Incidental Mutation 'IGL02103:Gpr139'
ID279856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr139
Ensembl Gene ENSMUSG00000066197
Gene NameG protein-coupled receptor 139
SynonymsLOC209776, GPRg1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02103
Quality Score
Status
Chromosome7
Chromosomal Location119140747-119184603 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119145132 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 77 (F77L)
Ref Sequence ENSEMBL: ENSMUSP00000081700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084650]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084650
AA Change: F77L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081700
Gene: ENSMUSG00000066197
AA Change: F77L

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,612,364 T206M probably benign Het
Adcy3 T A 12: 4,134,390 V22D possibly damaging Het
Alb G A 5: 90,464,131 E140K probably benign Het
Aph1a G A 3: 95,895,813 V193I probably damaging Het
Asb2 G A 12: 103,333,496 R178* probably null Het
Celf3 A T 3: 94,486,801 Q137L probably damaging Het
Cmya5 T C 13: 93,092,127 D2151G probably benign Het
Cuedc1 T A 11: 88,188,799 S353T probably damaging Het
Dlg5 A C 14: 24,144,346 L1709R probably damaging Het
Dst T C 1: 34,190,118 I1939T possibly damaging Het
Emx2 A T 19: 59,461,698 N149I probably benign Het
Fancm A G 12: 65,095,784 D472G probably benign Het
Fasn T C 11: 120,811,936 Y1700C probably damaging Het
Fat2 T A 11: 55,289,296 R1406S probably damaging Het
Fat4 C A 3: 38,889,199 T747K probably damaging Het
Fer A G 17: 64,138,928 M795V probably benign Het
Gm5916 A G 9: 36,128,674 L6P probably damaging Het
Kcnu1 T C 8: 25,905,948 S654P possibly damaging Het
Kdm5c T A X: 152,248,766 F408L probably damaging Het
Kel A G 6: 41,702,389 S147P probably benign Het
Klra5 A T 6: 129,911,344 probably null Het
Mastl A G 2: 23,139,998 S239P probably benign Het
Med18 A T 4: 132,459,666 V174D probably damaging Het
Mgat4a A T 1: 37,462,926 M247K possibly damaging Het
Mx2 A C 16: 97,544,595 D71A probably damaging Het
Nxt1 G T 2: 148,675,644 E102* probably null Het
Olfr125 A G 17: 37,835,278 Q93R possibly damaging Het
Olfr410 A G 11: 74,335,036 F65S probably damaging Het
Olfr828 T C 9: 18,815,709 N195S probably damaging Het
Pcdhb16 T A 18: 37,480,108 V707E probably benign Het
Pdzrn4 T A 15: 92,769,887 V640E probably damaging Het
Piwil4 T C 9: 14,725,986 probably null Het
Pla2g4a A T 1: 149,901,199 D55E probably damaging Het
Plekhg2 C A 7: 28,360,076 R1276L probably damaging Het
Psd4 G A 2: 24,400,528 W539* probably null Het
Rae1 G A 2: 173,003,513 E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 F512I probably damaging Het
Rfx6 A G 10: 51,726,856 D823G possibly damaging Het
Samt3 A T X: 86,047,153 Q217L probably damaging Het
Selenbp2 A G 3: 94,698,131 N134S probably null Het
Selenoo T C 15: 89,099,970 V663A probably damaging Het
Sp4 G T 12: 118,299,549 T254N probably damaging Het
Spdya A G 17: 71,578,247 K232R probably benign Het
Stom A T 2: 35,320,389 V201E probably benign Het
Sycp3 A G 10: 88,466,472 K108R possibly damaging Het
Usp2 A G 9: 44,089,128 probably benign Het
Vmn1r226 T C 17: 20,687,664 S53P probably damaging Het
Vmn2r14 C T 5: 109,224,483 G47D probably damaging Het
Vwf T G 6: 125,646,355 L1805W probably damaging Het
Washc3 A T 10: 88,201,825 Q22L probably damaging Het
Wdr81 T A 11: 75,444,720 D1761V probably damaging Het
Other mutations in Gpr139
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Gpr139 APN 7 119184287 missense probably benign 0.10
IGL02714:Gpr139 APN 7 119145119 missense possibly damaging 0.90
IGL02893:Gpr139 APN 7 119145143 missense probably damaging 1.00
R0082:Gpr139 UTSW 7 119145045 missense probably benign 0.11
R0542:Gpr139 UTSW 7 119145083 missense probably benign
R1912:Gpr139 UTSW 7 119144879 missense possibly damaging 0.62
R2148:Gpr139 UTSW 7 119144969 missense probably benign 0.08
R4568:Gpr139 UTSW 7 119144805 missense probably damaging 0.97
R4633:Gpr139 UTSW 7 119144405 missense probably damaging 0.99
R5039:Gpr139 UTSW 7 119144942 missense probably benign 0.45
R5186:Gpr139 UTSW 7 119144840 missense probably benign 0.00
R5252:Gpr139 UTSW 7 119145204 missense probably benign 0.13
R6518:Gpr139 UTSW 7 119144511 missense probably damaging 1.00
R6861:Gpr139 UTSW 7 119144652 missense probably benign 0.04
R7194:Gpr139 UTSW 7 119144673 missense possibly damaging 0.66
R7213:Gpr139 UTSW 7 119145099 missense probably benign
R7311:Gpr139 UTSW 7 119144866 missense probably benign 0.06
R7390:Gpr139 UTSW 7 119144612 missense probably benign 0.00
R7705:Gpr139 UTSW 7 119144643 missense probably benign 0.06
R8101:Gpr139 UTSW 7 119184287 missense probably benign 0.10
RF008:Gpr139 UTSW 7 119144867 missense probably benign 0.01
Z1177:Gpr139 UTSW 7 119144513 missense possibly damaging 0.91
Posted On2015-04-16