Gpr98 - SNV Details



 Human Rare Diseases 
Usher syndrome type 2

 Gene Information 
Gene Name Gpr98
Old Gene Names for Gpr98 Mass1
Gene Description G protein-coupled receptor 98 [Source:MGI Symbol;Acc:MGI:1274784]
MGI phenotype Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.
Uniprot Name
CCDS Name
Gene GO
inner ear development; inner ear receptor stereocilium organization; myosin binding; stereocilia ankle link complex; membrane; nervous system development; cytoplasm; transmembrane signaling receptor activity; photoreceptor cell maintenance; cell communication; neurological system process; detection of mechanical stimulus involved in sensory perception of sound; neuropeptide signaling pathway; protein binding; maintenance of organ identity; cell surface; single organismal cell-cell adhesion; integral component of membrane; sensory perception of sound; extracellular vesicular exosome; visual perception; G-protein coupled receptor activity; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; extracellular region; sensory perception of light stimulus; plasma membrane; receptor complex; calcium ion binding
Homolog in other species GPR98
Omim http://omim.org/entry/602851
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000069170
Chromosome 13
Coordinate 81,509,542     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:R0.68
G:V0.32
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL00471
Median Base Quality 34
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 0.58
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved