Spermatogenic failure, QRICH2-related
Phenotype Details
- Phene ID
- 5935
- Name
- Spermatogenic failure, QRICH2-related
- Phene Name
- low sperm count and immotile sperm with multiple morphological abnormalities
- OMIA ID
- 2848
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1689 | Spermatogenic failure, QRICH2-related | 398298891 | 1 | 19 | NC_037346.1:g.55436710del | XM_002696205.5:c.4929del | XP_002696251.3:C1644Afs*52 |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
Molecular Genetics
Hiltpold et al. (2022) investigated a Brown Swiss bull with low semen quality: "The genome of this bull was sequenced at a 12× coverage to investigate a possible genetic cause. Comparing the sequence variant genotypes of this bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of the QRICH2 gene which encodes the glutamine rich 2 protein, as a compelling candidate causal variant. This 1-bp deletion causes a frameshift in translation and a premature termination codon (ENSBTAP00000018337.1:p.Cys1644AlafsTer52) [omia.variant:1689]." A second bull that carried the 1-bp deletion in the homozygous state also presented with low semen quality.