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
Gene GO
inner ear development; inner ear receptor stereocilium organization; myosin binding; stereocilia ankle link complex; membrane; nervous system development; integral to membrane; 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; cell-cell adhesion; sensory perception of sound; 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; calcium ion binding
Homolog in other species GPR98
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000069170
Chromosome 13
Coordinate 81,559,195     (Assembly: GRCm38)    
Ref Base T
Codon Change aAt/aGt
Var Base C
Zygosity Heterozygous
Read Depth 13
Allele Frequency
Amino Acid Position 1364
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL02270
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.06
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved