Incidental Mutation 'IGL02714:Gpr139'
ID 304691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr139
Ensembl Gene ENSMUSG00000066197
Gene Name G protein-coupled receptor 139
Synonyms LOC209776, GPRg1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02714
Quality Score
Status
Chromosome 7
Chromosomal Location 118739970-118783761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118744342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 81 (D81V)
Ref Sequence ENSEMBL: ENSMUSP00000081700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084650]
AlphaFold Q80UC8
Predicted Effect possibly damaging
Transcript: ENSMUST00000084650
AA Change: D81V

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081700
Gene: ENSMUSG00000066197
AA Change: D81V

DomainStartEndE-ValueType
Pfam:7tm_1 35 277 2.9e-18 PFAM
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 member of the rhodopsin family of G-protein-coupled receptors. The encoded protein is almost exclusively expressed in the central nervous system. L-tryptophan and L-phenylalanine may act as the physiologic ligands of the encoded protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcam T A 7: 19,492,732 (GRCm39) probably benign Het
Bod1l T C 5: 41,973,682 (GRCm39) D2544G probably benign Het
Cd86 T C 16: 36,441,290 (GRCm39) D59G possibly damaging Het
Ckmt2 A G 13: 92,006,427 (GRCm39) M306T possibly damaging Het
Dsc1 T C 18: 20,220,542 (GRCm39) E744G probably damaging Het
Lsg1 T C 16: 30,404,368 (GRCm39) probably null Het
Ly9 A G 1: 171,432,686 (GRCm39) V109A possibly damaging Het
Mcm3ap T A 10: 76,346,867 (GRCm39) S1806T probably benign Het
Met T A 6: 17,491,851 (GRCm39) Y204* probably null Het
Or8b35 T A 9: 37,904,382 (GRCm39) I198N possibly damaging Het
Ppp1r13l T C 7: 19,111,568 (GRCm39) S798P possibly damaging Het
Ppp2r5b C T 19: 6,284,737 (GRCm39) R42H probably damaging Het
Prg2 T A 2: 84,813,849 (GRCm39) I220N probably damaging Het
Prph A G 15: 98,954,747 (GRCm39) D271G probably damaging Het
Rassf9 T A 10: 102,348,424 (GRCm39) L9Q possibly damaging Het
Rpap3 A G 15: 97,594,458 (GRCm39) Y157H possibly damaging Het
Tacstd2 A T 6: 67,512,053 (GRCm39) I213N probably damaging Het
Tlr12 A G 4: 128,511,506 (GRCm39) L248P probably damaging Het
Trip11 A T 12: 101,850,260 (GRCm39) I1268N probably damaging Het
Zp1 C T 19: 10,895,976 (GRCm39) G220D probably damaging Het
Other mutations in Gpr139
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Gpr139 APN 7 118,783,510 (GRCm39) missense probably benign 0.10
IGL02103:Gpr139 APN 7 118,744,355 (GRCm39) missense possibly damaging 0.88
IGL02893:Gpr139 APN 7 118,744,366 (GRCm39) missense probably damaging 1.00
R0082:Gpr139 UTSW 7 118,744,268 (GRCm39) missense probably benign 0.11
R0542:Gpr139 UTSW 7 118,744,306 (GRCm39) missense probably benign
R1912:Gpr139 UTSW 7 118,744,102 (GRCm39) missense possibly damaging 0.62
R2148:Gpr139 UTSW 7 118,744,192 (GRCm39) missense probably benign 0.08
R4568:Gpr139 UTSW 7 118,744,028 (GRCm39) missense probably damaging 0.97
R4633:Gpr139 UTSW 7 118,743,628 (GRCm39) missense probably damaging 0.99
R5039:Gpr139 UTSW 7 118,744,165 (GRCm39) missense probably benign 0.45
R5186:Gpr139 UTSW 7 118,744,063 (GRCm39) missense probably benign 0.00
R5252:Gpr139 UTSW 7 118,744,427 (GRCm39) missense probably benign 0.13
R6518:Gpr139 UTSW 7 118,743,734 (GRCm39) missense probably damaging 1.00
R6861:Gpr139 UTSW 7 118,743,875 (GRCm39) missense probably benign 0.04
R7194:Gpr139 UTSW 7 118,743,896 (GRCm39) missense possibly damaging 0.66
R7213:Gpr139 UTSW 7 118,744,322 (GRCm39) missense probably benign
R7311:Gpr139 UTSW 7 118,744,089 (GRCm39) missense probably benign 0.06
R7390:Gpr139 UTSW 7 118,743,835 (GRCm39) missense probably benign 0.00
R7705:Gpr139 UTSW 7 118,743,866 (GRCm39) missense probably benign 0.06
R8101:Gpr139 UTSW 7 118,783,510 (GRCm39) missense probably benign 0.10
R8970:Gpr139 UTSW 7 118,744,034 (GRCm39) missense probably damaging 1.00
R9395:Gpr139 UTSW 7 118,743,811 (GRCm39) missense probably benign 0.04
RF008:Gpr139 UTSW 7 118,744,090 (GRCm39) missense probably benign 0.01
Z1177:Gpr139 UTSW 7 118,743,736 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16