|Institutional Source||Beutler Lab|
|Gene Name||oxoglutarate (alpha-ketoglutarate) receptor 1|
|Synonyms||LOC239283, Gpr99, P2Y15, Cysltr3, Gpr80|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6416 (G1)|
|Chromosomal Location||120019585-120042435 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 120022448 bp (GRCm38)|
|Amino Acid Change||Asparagine to Aspartic acid at position 116 (N116D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055137 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058213]|
AA Change: N116D
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: N116D
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
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||
|Other mutations in Oxgr1||
(F):5'- CATCTGAACTGGTGAGGTCAAG -3'
(R):5'- TACATTTTCAAGATGCGGCCG -3'
(F):5'- TCAAGGCAAGCAGACCTATTG -3'
(R):5'- TCAAGATGCGGCCGTGGAG -3'