Incidental Mutation 'IGL03387:Oxgr1'
ID 420902
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 # IGL03387
Quality Score
Status
Chromosome 14
Chromosomal Location 120256997-120279847 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 120260199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 3 (E3*)
Ref Sequence ENSEMBL: ENSMUSP00000055137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058213]
AlphaFold Q6IYF8
Predicted Effect probably null
Transcript: ENSMUST00000058213
AA Change: E3*
SMART Domains Protein: ENSMUSP00000055137
Gene: ENSMUSG00000044819
AA Change: E3*

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A C 13: 68,878,486 (GRCm39) I384S probably damaging Het
Atxn7 T C 14: 14,087,273 (GRCm38) probably benign Het
Blm A T 7: 80,143,895 (GRCm39) V848D probably damaging Het
Cul1 G T 6: 47,478,143 (GRCm39) L175F probably damaging Het
Cyp4a29 A G 4: 115,108,368 (GRCm39) H364R possibly damaging Het
Ddx60 A G 8: 62,465,483 (GRCm39) D1380G probably damaging Het
Det1 A T 7: 78,493,372 (GRCm39) C211S possibly damaging Het
Dnaaf9 A G 2: 130,559,200 (GRCm39) Y822H probably damaging Het
F5 A C 1: 164,020,801 (GRCm39) Q1092P probably damaging Het
Fam117b A C 1: 59,992,119 (GRCm39) Y256S probably benign Het
Fbxl13 A G 5: 21,728,796 (GRCm39) probably null Het
Galnt7 A G 8: 57,979,212 (GRCm39) I637T probably benign Het
H2-T24 T A 17: 36,317,671 (GRCm39) K120N unknown Het
Hes2 A G 4: 152,244,269 (GRCm39) K18R probably damaging Het
Icam5 A T 9: 20,945,097 (GRCm39) Q220L probably benign Het
Kdm8 G A 7: 125,054,278 (GRCm39) A170T probably benign Het
Krt40 G A 11: 99,430,711 (GRCm39) A321V probably damaging Het
Mapkbp1 T A 2: 119,828,979 (GRCm39) V45D probably damaging Het
Mbip A G 12: 56,382,597 (GRCm39) Y290H probably damaging Het
Mical1 A G 10: 41,354,195 (GRCm39) Y48C probably damaging Het
Mslnl T C 17: 25,963,051 (GRCm39) S300P probably benign Het
Nanog T C 6: 122,688,731 (GRCm39) L104P probably damaging Het
Or10ak11 T C 4: 118,687,238 (GRCm39) Y132C probably damaging Het
Or4c113 A T 2: 88,885,457 (GRCm39) H104Q probably damaging Het
Or4f60 T A 2: 111,902,007 (GRCm39) Y307F probably benign Het
Or52n2c A T 7: 104,574,580 (GRCm39) N130K probably benign Het
Pam16 A T 16: 4,434,671 (GRCm39) probably benign Het
Plcb1 A T 2: 134,655,606 (GRCm39) probably benign Het
Slc25a32 A T 15: 38,969,359 (GRCm39) V58E probably benign Het
Slc2a12 G T 10: 22,541,134 (GRCm39) V330F probably damaging Het
Slit1 T C 19: 41,591,881 (GRCm39) E1247G possibly damaging Het
Supt5 A T 7: 28,019,508 (GRCm39) C519S possibly damaging Het
Szt2 A G 4: 118,221,922 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,180 (GRCm39) W294R possibly damaging Het
Tex21 A T 12: 76,245,694 (GRCm39) M534K probably damaging Het
Tmem132c T C 5: 127,640,784 (GRCm39) I985T probably benign Het
Tmem87b T C 2: 128,665,019 (GRCm39) V61A probably benign Het
Trhr2 G A 8: 123,085,220 (GRCm39) probably benign Het
Ttc28 A G 5: 111,381,208 (GRCm39) D1209G probably benign Het
Uchl5 A G 1: 143,677,940 (GRCm39) E148G probably benign Het
Wdr62 T C 7: 29,970,199 (GRCm39) I203V possibly damaging Het
Wnk1 T C 6: 119,931,148 (GRCm39) I799V possibly damaging 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
IGL03394:Oxgr1 APN 14 120,260,022 (GRCm39) missense possibly damaging 0.65
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