Incidental Mutation 'IGL03394:Oxgr1'
ID 421195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oxgr1
Ensembl Gene ENSMUSG00000044819
Gene Name oxoglutarate (alpha-ketoglutarate) receptor 1
Synonyms P2Y15, Cysltr3, LOC239283, Gpr99, Gpr80
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03394
Quality Score
Status
Chromosome 14
Chromosomal Location 120256997-120279847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120260022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 62 (M62V)
Ref Sequence ENSEMBL: ENSMUSP00000055137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058213]
AlphaFold Q6IYF8
Predicted Effect possibly damaging
Transcript: ENSMUST00000058213
AA Change: M62V

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055137
Gene: ENSMUSG00000044819
AA Change: M62V

DomainStartEndE-ValueType
Pfam:7tm_1 50 302 3.8e-35 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 G protein-coupled receptor (GPCR) that belongs to the oxoglutarate receptor family within the GPCR superfamily. The encoded protein is activated by the citric acid intermediate, oxoglutarate, as well as several cysteinyl leukotrienes, including leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this gene leads to middle ear inflammation, changes in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced leukotriene E4 ligand (LTE4)-induced ear edema at low and intermediate doses and abnormal acid-base balance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,635,277 (GRCm39) L242P probably damaging Het
Adam22 T C 5: 8,217,379 (GRCm39) I139V probably benign Het
Ahr G T 12: 35,553,751 (GRCm39) Y789* probably null Het
Ankrd27 C A 7: 35,306,523 (GRCm39) probably null Het
Ano1 T C 7: 144,149,176 (GRCm39) probably null Het
Ap4e1 T A 2: 126,905,317 (GRCm39) M996K probably benign Het
Bglap T C 3: 88,291,312 (GRCm39) K42E probably benign Het
Ccdc30 A T 4: 119,216,779 (GRCm39) S220R probably damaging Het
Clic5 A G 17: 44,548,105 (GRCm39) N50S probably benign Het
Csnk2a1-ps3 A T 1: 156,352,792 (GRCm39) Q331L probably benign Het
Cyp20a1 T G 1: 60,405,840 (GRCm39) D211E probably damaging Het
Dctn1 G A 6: 83,168,266 (GRCm39) V408I possibly damaging Het
Exoc6 T C 19: 37,588,020 (GRCm39) I551T probably benign Het
Fat4 C T 3: 38,946,168 (GRCm39) T1687M probably damaging Het
Fat4 T A 3: 39,063,513 (GRCm39) C4490S probably damaging Het
Fras1 T A 5: 96,815,336 (GRCm39) I1351N probably damaging Het
Igkv2-116 T C 6: 68,129,327 (GRCm39) noncoding transcript Het
Iws1 T G 18: 32,221,301 (GRCm39) probably benign Het
Mlh1 A T 9: 111,097,311 (GRCm39) I61N probably damaging Het
Mtmr7 C T 8: 41,061,972 (GRCm39) V38M probably damaging Het
Myh7 G T 14: 55,212,818 (GRCm39) A1409D probably damaging Het
Myt1 A T 2: 181,439,638 (GRCm39) I387F probably damaging Het
Nars2 A G 7: 96,689,220 (GRCm39) N381D possibly damaging Het
Nsd3 T C 8: 26,165,765 (GRCm39) probably benign Het
Nup107 A G 10: 117,617,933 (GRCm39) S162P probably damaging Het
Oog2 T C 4: 143,920,576 (GRCm39) F3S probably benign Het
Or8b1b A G 9: 38,375,517 (GRCm39) Y60C probably damaging Het
Pcgf1 A G 6: 83,056,121 (GRCm39) Y75C probably damaging Het
Ppp3cc C A 14: 70,462,477 (GRCm39) E396* probably null Het
Ptx4 T A 17: 25,343,649 (GRCm39) C300S probably damaging Het
Rassf4 C T 6: 116,618,708 (GRCm39) V192I probably damaging Het
Rundc3b T C 5: 8,598,261 (GRCm39) T203A possibly damaging Het
Serpinb3c T C 1: 107,199,603 (GRCm39) D306G probably benign Het
Sipa1l2 T C 8: 126,218,398 (GRCm39) E313G possibly damaging Het
Snx5 G A 2: 144,095,674 (GRCm39) A329V probably damaging Het
Stx1b T C 7: 127,407,056 (GRCm39) D213G probably damaging Het
Tpd52l2 G A 2: 181,156,879 (GRCm39) V172I probably benign Het
Trim50 A T 5: 135,392,807 (GRCm39) I241F probably damaging Het
Ttn G A 2: 76,580,760 (GRCm39) H23378Y probably benign Het
Vmn1r193 T A 13: 22,403,939 (GRCm39) M18L probably benign Het
Vmn1r226 A G 17: 20,908,446 (GRCm39) N226S probably benign Het
Vmn2r14 T A 5: 109,367,702 (GRCm39) Q430L probably null Het
Xirp2 T A 2: 67,345,538 (GRCm39) V2593D probably damaging Het
Zfp169 A T 13: 48,643,400 (GRCm39) F576I possibly damaging Het
Zfp667 T C 7: 6,292,438 (GRCm39) probably null Het
Zzef1 A G 11: 72,777,601 (GRCm39) probably null Het
Other mutations in Oxgr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02167:Oxgr1 APN 14 120,259,342 (GRCm39) missense probably damaging 0.97
IGL02678:Oxgr1 APN 14 120,259,580 (GRCm39) missense probably damaging 1.00
IGL03387:Oxgr1 APN 14 120,260,199 (GRCm39) nonsense probably null
R1615:Oxgr1 UTSW 14 120,260,185 (GRCm39) missense probably benign 0.25
R2919:Oxgr1 UTSW 14 120,260,221 (GRCm39) start gained probably benign
R4223:Oxgr1 UTSW 14 120,260,025 (GRCm39) missense probably damaging 1.00
R4409:Oxgr1 UTSW 14 120,259,572 (GRCm39) missense possibly damaging 0.67
R4783:Oxgr1 UTSW 14 120,259,776 (GRCm39) missense probably benign
R5213:Oxgr1 UTSW 14 120,259,552 (GRCm39) nonsense probably null
R5226:Oxgr1 UTSW 14 120,259,665 (GRCm39) missense probably damaging 1.00
R6416:Oxgr1 UTSW 14 120,259,860 (GRCm39) missense probably damaging 0.99
R6491:Oxgr1 UTSW 14 120,259,419 (GRCm39) missense probably benign 0.01
R6670:Oxgr1 UTSW 14 120,259,669 (GRCm39) missense probably damaging 1.00
R6904:Oxgr1 UTSW 14 120,259,431 (GRCm39) missense possibly damaging 0.90
R7089:Oxgr1 UTSW 14 120,259,614 (GRCm39) missense probably damaging 1.00
R7819:Oxgr1 UTSW 14 120,260,281 (GRCm39) critical splice acceptor site probably null
R9672:Oxgr1 UTSW 14 120,259,454 (GRCm39) missense probably damaging 1.00
R9731:Oxgr1 UTSW 14 120,260,094 (GRCm39) missense probably benign 0.00
R9803:Oxgr1 UTSW 14 120,259,563 (GRCm39) missense possibly damaging 0.91
Posted On 2016-08-02