Incidental Mutation 'IGL01861:Gpr63'
ID178319
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 #IGL01861
Quality Score
Status
Chromosome4
Chromosomal Location24966407-25009233 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 25008545 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 423 (T423M)
Ref Sequence ENSEMBL: ENSMUSP00000039312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038920]
Predicted Effect probably damaging
Transcript: ENSMUST00000038920
AA Change: T423M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039312
Gene: ENSMUSG00000040372
AA Change: T423M

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc5 T C 17: 56,300,144 T34A possibly damaging Het
Atm C A 9: 53,494,612 R1252L probably null Het
Cd34 T C 1: 194,958,580 probably benign Het
Cmya5 A G 13: 93,089,748 V2944A probably damaging Het
Cntnap3 C T 13: 64,799,108 G169D probably damaging Het
Dnah7a T A 1: 53,640,349 T326S probably benign Het
Dnah7a C T 1: 53,584,449 probably benign Het
Fam133b A G 5: 3,564,242 probably benign Het
Fhod1 A G 8: 105,331,176 S906P probably damaging Het
Gli3 A G 13: 15,725,325 Y1099C probably damaging Het
Hpx A T 7: 105,592,186 Y339* probably null Het
Lingo2 A T 4: 35,709,526 D151E probably benign Het
Mill2 A T 7: 18,856,640 Q215L probably damaging Het
Naf1 T C 8: 66,864,533 probably benign Het
Ndufv1 A G 19: 4,008,803 V235A probably benign Het
Olfr890 T C 9: 38,143,750 I205T probably damaging Het
Pafah1b1 A T 11: 74,690,577 N22K possibly damaging Het
Prune1 G T 3: 95,265,557 R66S probably damaging Het
Ptcd1 A T 5: 145,158,777 I291N possibly damaging Het
Ptprk A G 10: 28,383,445 I294V possibly damaging Het
Rfx6 G A 10: 51,721,579 V471M probably damaging Het
Rnase6 C A 14: 51,130,291 Q47K probably benign Het
Skint5 T C 4: 113,559,824 probably benign Het
Srcap T A 7: 127,525,285 probably benign Het
Stap1 A G 5: 86,096,524 I217V possibly damaging Het
Taf1d T C 9: 15,308,739 probably null Het
Tecta T C 9: 42,373,362 H809R probably benign Het
Tex15 A G 8: 33,570,689 N49S probably damaging Het
Tubb4b-ps1 A G 5: 7,179,374 probably benign Het
Uhrf2 A G 19: 30,086,404 Y589C probably damaging Het
Zfp616 A T 11: 74,082,916 T4S possibly damaging Het
Zfp687 A T 3: 95,011,860 F200L probably damaging Het
Other mutations in Gpr63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Gpr63 APN 4 25008445 missense possibly damaging 0.78
IGL01673:Gpr63 APN 4 25008014 missense probably benign 0.04
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
Posted On2014-05-07