Incidental Mutation 'IGL03387:Oxgr1'
ID420902
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oxgr1
Ensembl Gene ENSMUSG00000044819
Gene Nameoxoglutarate (alpha-ketoglutarate) receptor 1
SynonymsLOC239283, Gpr99, P2Y15, Cysltr3, Gpr80
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03387
Quality Score
Status
Chromosome14
Chromosomal Location120019585-120042435 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 120022787 bp
ZygosityHeterozygous
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]
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
4930402H24Rik A G 2: 130,717,280 Y822H probably damaging Het
Adcy2 A C 13: 68,730,367 I384S probably damaging Het
Atxn7 T C 14: 14,087,273 probably benign Het
Blm A T 7: 80,494,147 V848D probably damaging Het
Cul1 G T 6: 47,501,209 L175F probably damaging Het
Cyp4a29 A G 4: 115,251,171 H364R possibly damaging Het
Ddx60 A G 8: 62,012,449 D1380G probably damaging Het
Det1 A T 7: 78,843,624 C211S possibly damaging Het
F5 A C 1: 164,193,232 Q1092P probably damaging Het
Fam117b A C 1: 59,952,960 Y256S probably benign Het
Fbxl13 A G 5: 21,523,798 probably null Het
Galnt7 A G 8: 57,526,178 I637T probably benign Het
H2-T24 T A 17: 36,006,779 K120N unknown Het
Hes2 A G 4: 152,159,812 K18R probably damaging Het
Icam5 A T 9: 21,033,801 Q220L probably benign Het
Kdm8 G A 7: 125,455,106 A170T probably benign Het
Krt40 G A 11: 99,539,885 A321V probably damaging Het
Mapkbp1 T A 2: 119,998,498 V45D probably damaging Het
Mbip A G 12: 56,335,812 Y290H probably damaging Het
Mical1 A G 10: 41,478,199 Y48C probably damaging Het
Mslnl T C 17: 25,744,077 S300P probably benign Het
Nanog T C 6: 122,711,772 L104P probably damaging Het
Olfr1218 A T 2: 89,055,113 H104Q probably damaging Het
Olfr1313 T A 2: 112,071,662 Y307F probably benign Het
Olfr1333 T C 4: 118,830,041 Y132C probably damaging Het
Olfr668 A T 7: 104,925,373 N130K probably benign Het
Pam16 A T 16: 4,616,807 probably benign Het
Plcb1 A T 2: 134,813,686 probably benign Het
Slc25a32 A T 15: 39,105,964 V58E probably benign Het
Slc2a12 G T 10: 22,665,235 V330F probably damaging Het
Slit1 T C 19: 41,603,442 E1247G possibly damaging Het
Supt5 A T 7: 28,320,083 C519S possibly damaging Het
Szt2 A G 4: 118,364,725 probably benign Het
Tas2r118 A G 6: 23,969,181 W294R possibly damaging Het
Tex21 A T 12: 76,198,920 M534K probably damaging Het
Tmem132c T C 5: 127,563,720 I985T probably benign Het
Tmem87b T C 2: 128,823,099 V61A probably benign Het
Trhr2 G A 8: 122,358,481 probably benign Het
Ttc28 A G 5: 111,233,342 D1209G probably benign Het
Uchl5 A G 1: 143,802,202 E148G probably benign Het
Wdr62 T C 7: 30,270,774 I203V possibly damaging Het
Wnk1 T C 6: 119,954,187 I799V possibly damaging Het
Other mutations in Oxgr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02167:Oxgr1 APN 14 120021930 missense probably damaging 0.97
IGL02678:Oxgr1 APN 14 120022168 missense probably damaging 1.00
IGL03394:Oxgr1 APN 14 120022610 missense possibly damaging 0.65
R1615:Oxgr1 UTSW 14 120022773 missense probably benign 0.25
R2919:Oxgr1 UTSW 14 120022809 start gained probably benign
R4223:Oxgr1 UTSW 14 120022613 missense probably damaging 1.00
R4409:Oxgr1 UTSW 14 120022160 missense possibly damaging 0.67
R4783:Oxgr1 UTSW 14 120022364 missense probably benign
R5213:Oxgr1 UTSW 14 120022140 nonsense probably null
R5226:Oxgr1 UTSW 14 120022253 missense probably damaging 1.00
R6416:Oxgr1 UTSW 14 120022448 missense probably damaging 0.99
R6491:Oxgr1 UTSW 14 120022007 missense probably benign 0.01
R6670:Oxgr1 UTSW 14 120022257 missense probably damaging 1.00
R6904:Oxgr1 UTSW 14 120022019 missense possibly damaging 0.90
R7089:Oxgr1 UTSW 14 120022202 missense probably damaging 1.00
R7819:Oxgr1 UTSW 14 120022869 critical splice acceptor site probably null
Posted On2016-08-02