Incidental Mutation 'R5226:Oxgr1'
ID 402633
Institutional Source Beutler Lab
Gene Symbol Oxgr1
Ensembl Gene ENSMUSG00000044819
Gene Name oxoglutarate (alpha-ketoglutarate) receptor 1
Synonyms P2Y15, Cysltr3, LOC239283, Gpr99, Gpr80
MMRRC Submission 042799-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5226 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 120256997-120279847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120259665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 181 (S181P)
Ref Sequence ENSEMBL: ENSMUSP00000055137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058213]
AlphaFold Q6IYF8
Predicted Effect probably damaging
Transcript: ENSMUST00000058213
AA Change: S181P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055137
Gene: ENSMUSG00000044819
AA Change: S181P

DomainStartEndE-ValueType
Pfam:7tm_1 50 302 3.8e-35 PFAM
Meta Mutation Damage Score 0.2756 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (66/66)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,056,706 (GRCm39) K98E possibly damaging Het
4933414I15Rik A T 11: 50,833,416 (GRCm39) M62K unknown Het
Akr1d1 T A 6: 37,512,949 (GRCm39) probably null Het
Ankrd63 T C 2: 118,533,736 (GRCm39) probably benign Het
Atad5 T C 11: 79,985,888 (GRCm39) V325A probably damaging Het
Atp13a5 G T 16: 29,067,031 (GRCm39) N1025K probably damaging Het
Atrnl1 G T 19: 57,638,767 (GRCm39) V302L probably benign Het
Bend7 C A 2: 4,757,789 (GRCm39) S277* probably null Het
Btnl7-ps A T 17: 34,752,261 (GRCm39) noncoding transcript Het
Cbx4 T C 11: 118,972,754 (GRCm39) Y207C probably damaging Het
Ctla2b C T 13: 61,044,146 (GRCm39) W63* probably null Het
Cux1 T C 5: 136,399,027 (GRCm39) T170A probably benign Het
Cyp3a57 T C 5: 145,302,507 (GRCm39) V101A probably benign Het
Dao A T 5: 114,159,094 (GRCm39) T267S probably benign Het
Dsp A G 13: 38,370,746 (GRCm39) D883G probably damaging Het
Dynlt4 A G 4: 116,985,290 (GRCm39) T38A possibly damaging Het
Eif4g3 C A 4: 137,824,105 (GRCm39) P36T possibly damaging Het
Elf3 G A 1: 135,184,977 (GRCm39) L70F probably benign Het
Epb41l4a C T 18: 33,943,366 (GRCm39) D510N probably damaging Het
Gcn1 T C 5: 115,726,126 (GRCm39) S594P probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Gpr132 T C 12: 112,815,768 (GRCm39) T353A probably benign Het
Kntc1 A G 5: 123,932,235 (GRCm39) D1343G probably benign Het
L3mbtl4 T A 17: 69,071,717 (GRCm39) probably null Het
Lrit2 A G 14: 36,794,310 (GRCm39) E458G probably damaging Het
Man1c1 A T 4: 134,305,680 (GRCm39) I348N probably damaging Het
Map4k2 A G 19: 6,396,534 (GRCm39) probably benign Het
Nt5c2 A C 19: 46,887,068 (GRCm39) Y203D probably damaging Het
Parn A G 16: 13,443,416 (GRCm39) C400R probably benign Het
Pcdhgb7 T C 18: 37,885,577 (GRCm39) V249A probably benign Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plcg2 A T 8: 118,304,613 (GRCm39) I273F possibly damaging Het
Plin1 A G 7: 79,372,447 (GRCm39) V64A probably damaging Het
Ppfia4 C A 1: 134,232,024 (GRCm39) probably null Het
Prkg2 A C 5: 99,124,321 (GRCm39) D376E possibly damaging Het
Ptgir T A 7: 16,642,645 (GRCm39) I82N probably damaging Het
Pum2 C T 12: 8,763,458 (GRCm39) P205L possibly damaging Het
Rab26 T A 17: 24,753,107 (GRCm39) probably benign Het
Recql4 T C 15: 76,594,329 (GRCm39) E63G probably benign Het
Rora T A 9: 69,271,423 (GRCm39) probably benign Het
Rp1 A C 1: 4,418,256 (GRCm39) M952R probably benign Het
Rpap3 T A 15: 97,601,104 (GRCm39) R44S possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc12a2 C A 18: 58,012,092 (GRCm39) P72T probably damaging Het
Slc1a3 C T 15: 8,671,709 (GRCm39) V416M probably damaging Het
Slfn4 A T 11: 83,078,375 (GRCm39) M388L possibly damaging Het
Snrnp48 G A 13: 38,389,093 (GRCm39) A49T probably benign Het
Tlx2 C T 6: 83,045,911 (GRCm39) G228D possibly damaging Het
Tmem132a A G 19: 10,844,508 (GRCm39) V30A possibly damaging Het
Tnfrsf23 C A 7: 143,239,522 (GRCm39) L24F possibly damaging Het
Ubr2 A T 17: 47,294,196 (GRCm39) N312K probably benign Het
Vmn1r115 C T 7: 20,578,169 (GRCm39) V248I probably damaging Het
Vmn2r80 A G 10: 79,029,874 (GRCm39) T567A probably benign Het
Vps13c A G 9: 67,852,835 (GRCm39) T2372A probably benign Het
Wnt10b G T 15: 98,674,495 (GRCm39) H81N probably damaging Het
Zfp948 A G 17: 21,808,505 (GRCm39) T566A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTTAAAGCAGCTGTGGGTC -3'
(R):5'- ATTTCATGTGCAAGTTCATCCGC -3'

Sequencing Primer
(F):5'- CAGCTGTGGGTCCGAGG -3'
(R):5'- TTCAACCTCTACAGCAGCATTC -3'
Posted On 2016-07-22