Gpr125 - SNV Details



 Gene Information 
Gene Name Gpr125
Old Gene Names for Gpr125 Au044632 , 3830613o22rik
Gene Description G protein-coupled receptor 125 [Source:MGI Symbol;Acc:MGI:1917943]
MGI phenotype Homozygous mutant mice are fertile and grossly normal.
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; transmembrane signaling receptor activity; neuropeptide signaling pathway; external side of plasma membrane; protein binding; G-protein coupled receptor activity; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; biological_process
Homolog in other species GPR125
Omim http://omim.org/entry/612303
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EMB GROUP, EPITH GROUP, SALIVARYGLAND, THYROID, PLACENTA, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029090
Chromosome 5
Coordinate 50,006,930     (Assembly: GRCm38)    
Ref Base T
Codon Change Act/Gct
Var Base C
Zygosity Heterozygous
Read Depth 11
Allele Frequency
T:R0.55
C:V0.46
Amino Acid Position 236
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01665
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0.08
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000030971:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Immunoglobulin-like domain Ig-like_dom IPR007110 ENSMUSP00000030971 Prosite_profiles 231
329 Description available Search pathways
Immunoglobulin I-set Ig_I-set IPR013098 ENSMUSP00000030971 Pfam 236
328 Description available Search pathways

 Availability Details 
Availability Cryopreserved