|Institutional Source||Beutler Lab|
|Gene Name||pyrimidinergic receptor P2Y, G-protein coupled, 6|
|Is this an essential gene?||Probably non essential (E-score: 0.065)|
|Stock #||R4608 (G1)|
|Chromosomal Location||100937630-100974649 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 100938304 bp|
|Amino Acid Change||Tyrosine to Histidine at position 283 (Y283H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055697 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060174]|
|Predicted Effect||probably damaging
AA Change: Y283H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y283H
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7179|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, which is a G-protein coupled receptor, is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. It is proposed that this receptor mediates inflammatory responses. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal macrophage, endothelial, and vascular smooth muscle response to UTP and UDP. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in P2ry6||
(F):5'- CAAACACATTGCAGCCAGTG -3'
(R):5'- CTTGTTATTGTCGCATGGCC -3'
(F):5'- CAGCCAGTGCCCCAGGG -3'
(R):5'- CTGTGTCGCCAGGATGG -3'