Incidental Mutation 'IGL02095:P2ry6'
ID 279597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2ry6
Ensembl Gene ENSMUSG00000048779
Gene Name pyrimidinergic receptor P2Y, G-protein coupled, 6
Synonyms 2010204J23Rik, P2Y6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02095
Quality Score
Status
Chromosome 7
Chromosomal Location 100586837-100623856 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100588071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 96 (D96V)
Ref Sequence ENSEMBL: ENSMUSP00000055697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060174]
AlphaFold Q9ERK9
Predicted Effect probably damaging
Transcript: ENSMUST00000060174
AA Change: D96V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055697
Gene: ENSMUSG00000048779
AA Change: D96V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 33 270 2.6e-6 PFAM
Pfam:7tm_1 43 301 1.1e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209196
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,583 (GRCm39) Q794L probably benign Het
Acrbp C A 6: 125,030,919 (GRCm39) Y313* probably null Het
Adam9 A G 8: 25,486,745 (GRCm39) S178P probably benign Het
Adgrv1 T C 13: 81,727,909 (GRCm39) I244V possibly damaging Het
Atad5 A G 11: 79,985,533 (GRCm39) S207G probably benign Het
Atp10a A G 7: 58,457,141 (GRCm39) D880G probably damaging Het
Cadps2 A G 6: 23,427,309 (GRCm39) I573T probably benign Het
Camsap3 A G 8: 3,653,845 (GRCm39) D494G probably damaging Het
Cbfa2t3 T C 8: 123,360,232 (GRCm39) E438G probably damaging Het
Cisd2 T C 3: 135,116,980 (GRCm39) D37G possibly damaging Het
Cndp2 T C 18: 84,699,157 (GRCm39) E36G possibly damaging Het
Ddx54 G A 5: 120,761,856 (GRCm39) G544D possibly damaging Het
Dok2 G T 14: 71,015,301 (GRCm39) G343W possibly damaging Het
Dscaml1 A G 9: 45,359,001 (GRCm39) N87D probably damaging Het
Ehf T C 2: 103,097,336 (GRCm39) Y237C probably damaging Het
Exoc3 T C 13: 74,328,655 (GRCm39) T569A probably damaging Het
Fam151a T C 4: 106,605,072 (GRCm39) V478A probably damaging Het
Fam227b T A 2: 125,942,924 (GRCm39) H291L probably damaging Het
Fmn2 A G 1: 174,330,167 (GRCm39) T186A unknown Het
Ggnbp2 T C 11: 84,723,954 (GRCm39) Y660C probably damaging Het
Ggt5 G A 10: 75,444,637 (GRCm39) M318I probably benign Het
Gprc5d A G 6: 135,093,175 (GRCm39) I244T probably damaging Het
Gucy2e A G 11: 69,123,613 (GRCm39) S429P possibly damaging Het
Igf2r T C 17: 12,920,892 (GRCm39) D1341G probably damaging Het
Kcnq4 T C 4: 120,557,224 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,497 (GRCm39) D173G probably damaging Het
Lrrc27 C T 7: 138,810,169 (GRCm39) T380I probably benign Het
Lrrc4c A G 2: 97,459,749 (GRCm39) N125S probably benign Het
Mtor C T 4: 148,628,998 (GRCm39) R2217C probably damaging Het
Nfrkb C T 9: 31,322,527 (GRCm39) R866W probably damaging Het
Or10s1 T A 9: 39,985,967 (GRCm39) Y125* probably null Het
Or4d10b C A 19: 12,036,913 (GRCm39) V68F probably benign Het
Pcdh18 A T 3: 49,710,605 (GRCm39) S237T probably benign Het
Pck2 G A 14: 55,779,967 (GRCm39) R72Q probably benign Het
Pik3c2a C T 7: 115,945,423 (GRCm39) R1461Q probably damaging Het
Polr3a A G 14: 24,504,678 (GRCm39) V1130A possibly damaging Het
Ppm1d T A 11: 85,217,832 (GRCm39) D198E probably benign Het
Rasa1 T A 13: 85,364,274 (GRCm39) E1022D probably benign Het
Rbm25 T C 12: 83,718,748 (GRCm39) Y507H probably damaging Het
Rbm26 A T 14: 105,381,696 (GRCm39) I488K probably damaging Het
Ryr2 T A 13: 11,774,645 (GRCm39) E1170D probably damaging Het
Sdk2 T G 11: 113,725,656 (GRCm39) T1198P probably damaging Het
Sema3g C T 14: 30,949,781 (GRCm39) T654I probably benign Het
Spag9 A T 11: 93,999,408 (GRCm39) H1108L probably damaging Het
Trgc2 T A 13: 19,491,580 (GRCm39) probably benign Het
Ubap2 T C 4: 41,229,709 (GRCm39) N142S probably benign Het
Usp33 T C 3: 152,087,431 (GRCm39) F699L possibly damaging Het
Ythdc2 A G 18: 45,006,207 (GRCm39) probably benign Het
Other mutations in P2ry6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0195:P2ry6 UTSW 7 100,587,904 (GRCm39) missense probably damaging 1.00
R1669:P2ry6 UTSW 7 100,587,630 (GRCm39) missense probably damaging 0.99
R1688:P2ry6 UTSW 7 100,587,591 (GRCm39) missense probably damaging 1.00
R4607:P2ry6 UTSW 7 100,587,511 (GRCm39) missense probably damaging 1.00
R4608:P2ry6 UTSW 7 100,587,511 (GRCm39) missense probably damaging 1.00
R6027:P2ry6 UTSW 7 100,587,715 (GRCm39) missense probably benign
R6320:P2ry6 UTSW 7 100,587,603 (GRCm39) missense probably damaging 1.00
R6490:P2ry6 UTSW 7 100,587,580 (GRCm39) missense probably damaging 1.00
R7582:P2ry6 UTSW 7 100,587,784 (GRCm39) missense probably damaging 1.00
R9294:P2ry6 UTSW 7 100,588,133 (GRCm39) nonsense probably null
X0066:P2ry6 UTSW 7 100,588,188 (GRCm39) missense probably benign 0.00
Z1177:P2ry6 UTSW 7 100,587,490 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16