Incidental Mutation 'IGL01673:Gpr63'
ID103559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr63
Ensembl Gene ENSMUSG00000040372
Gene NameG protein-coupled receptor 63
SynonymsPSP24beta
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01673
Quality Score
Status
Chromosome4
Chromosomal Location24966407-25009233 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25008014 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 246 (Q246L)
Ref Sequence ENSEMBL: ENSMUSP00000039312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038920]
Predicted Effect probably benign
Transcript: ENSMUST00000038920
AA Change: Q246L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000039312
Gene: ENSMUSG00000040372
AA Change: Q246L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 98 392 1.3e-8 PFAM
Pfam:7tm_1 104 377 1.9e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151006
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cpz A T 5: 35,512,547 V262E probably benign Het
Cyp4f14 A G 17: 32,911,151 probably null Het
Ddx46 G T 13: 55,653,048 V339F probably damaging Het
Gpn1 T G 5: 31,494,835 C21W probably damaging Het
Hsp90b1 T A 10: 86,693,432 M658L probably damaging Het
Immp2l T C 12: 41,068,321 S4P probably benign Het
Krtap9-5 A T 11: 99,949,551 *359C probably null Het
Lgals7 A G 7: 28,866,196 probably benign Het
Mak G T 13: 41,048,223 probably null Het
Mrps18c A G 5: 100,798,806 R13G possibly damaging Het
Myo7a A G 7: 98,054,708 V1946A probably benign Het
Nfyc T C 4: 120,779,110 probably benign Het
Nkx2-4 C T 2: 147,083,914 V343M possibly damaging Het
Olfr1105 T C 2: 87,033,387 Y278C probably damaging Het
Olfr924 T C 9: 38,849,020 V302A probably benign Het
Rapgef4 G T 2: 72,241,437 S743I probably damaging Het
Tcf7 A G 11: 52,256,996 C210R probably damaging Het
Ubqln3 T A 7: 104,142,398 I162F probably benign Het
Vmn1r216 A G 13: 23,099,471 Q108R probably damaging Het
Vmn1r74 A T 7: 11,847,390 I206F possibly damaging Het
Wdr64 T C 1: 175,800,356 I872T possibly damaging Het
Other mutations in Gpr63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Gpr63 APN 4 25008445 missense possibly damaging 0.78
IGL01861:Gpr63 APN 4 25008545 missense probably damaging 0.98
IGL02082:Gpr63 APN 4 25008564 utr 3 prime probably benign
R0003:Gpr63 UTSW 4 25007651 missense probably damaging 1.00
R0554:Gpr63 UTSW 4 25007447 missense probably benign
R0729:Gpr63 UTSW 4 25007480 missense probably benign 0.02
R1506:Gpr63 UTSW 4 25008227 missense probably damaging 1.00
R3103:Gpr63 UTSW 4 25007353 missense probably benign 0.00
R3694:Gpr63 UTSW 4 25007993 missense probably damaging 1.00
R4021:Gpr63 UTSW 4 25008470 missense possibly damaging 0.77
R4807:Gpr63 UTSW 4 25007446 missense probably benign
R4967:Gpr63 UTSW 4 25008368 nonsense probably null
R5047:Gpr63 UTSW 4 25008202 missense probably benign 0.44
R5325:Gpr63 UTSW 4 25007294 missense probably benign 0.00
R5382:Gpr63 UTSW 4 25007952 missense probably benign
R7047:Gpr63 UTSW 4 25007320 missense probably benign 0.00
R7216:Gpr63 UTSW 4 25008038 missense probably damaging 1.00
R8317:Gpr63 UTSW 4 25008223 missense probably damaging 1.00
R8387:Gpr63 UTSW 4 25008301 missense possibly damaging 0.64
Posted On2014-01-21