Incidental Mutation 'IGL02324:P2ry1'
ID288381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2ry1
Ensembl Gene ENSMUSG00000027765
Gene Namepurinergic receptor P2Y, G-protein coupled 1
SynonymsP2Y1, P2Y1 receptor
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #IGL02324
Quality Score
Status
Chromosome3
Chromosomal Location61002795-61008982 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 61003778 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 113 (N113Y)
Ref Sequence ENSEMBL: ENSMUSP00000141371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029331] [ENSMUST00000193201] [ENSMUST00000193943]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029331
AA Change: N113Y

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029331
Gene: ENSMUSG00000027765
AA Change: N113Y

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:7tm_1 68 324 4.8e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000193201
AA Change: N113Y

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142006
Gene: ENSMUSG00000027765
AA Change: N113Y

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:7tm_1 68 324 7.2e-47 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000193943
AA Change: N113Y

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141371
Gene: ENSMUSG00000027765
AA Change: N113Y

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:7tm_1 68 324 7.2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194809
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 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 functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for either one of two independently generated knock-out alleles exhibit decreased platelet aggregation, increased bleeding time, and resistance to induced thromboembolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T A 3: 151,497,874 C124S probably damaging Het
Aldh1a7 T C 19: 20,727,004 N42S probably damaging Het
Arhgef1 T C 7: 24,923,815 L667P probably damaging Het
C1qb C A 4: 136,880,500 R184L possibly damaging Het
Cacna1s A G 1: 136,075,176 probably benign Het
Cdk20 A G 13: 64,437,920 E244G probably benign Het
Copg2 C A 6: 30,863,534 probably null Het
Cyp2d40 A T 15: 82,760,948 probably benign Het
Cyp2j6 A G 4: 96,525,933 I365T probably damaging Het
Dhx29 A G 13: 112,927,808 K6E probably damaging Het
Dpp10 T A 1: 123,367,802 T539S probably benign Het
Ehbp1 A T 11: 22,096,048 I542K probably damaging Het
Fat1 A G 8: 45,040,556 Y3913C probably damaging Het
Flt4 C T 11: 49,645,995 T1264I probably benign Het
Fmnl1 A G 11: 103,179,538 D51G probably damaging Het
Gm17093 A G 14: 44,518,350 T25A unknown Het
Gpatch2 A G 1: 187,225,739 E97G probably damaging Het
Hcn1 T C 13: 117,902,886 L446P unknown Het
Hpse2 A T 19: 42,931,599 L354I probably damaging Het
Hspa4 A G 11: 53,300,058 probably null Het
Krtap16-1 C T 11: 99,986,303 V92M probably damaging Het
Med23 A T 10: 24,897,341 Q281L probably damaging Het
Megf8 T C 7: 25,340,448 S963P probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mycbp2 A G 14: 103,242,207 S1217P probably damaging Het
Myocd C A 11: 65,178,658 L785F probably benign Het
Nell2 T C 15: 95,229,101 T798A probably damaging Het
Nfat5 T C 8: 107,366,176 probably benign Het
Olfm5 T C 7: 104,154,095 probably null Het
Olfr385 A G 11: 73,589,255 V161A probably benign Het
Pan3 A G 5: 147,530,123 probably null Het
Pappa A G 4: 65,196,808 R714G probably damaging Het
Plcd1 A G 9: 119,072,642 F579L probably damaging Het
Ptprb T C 10: 116,319,333 V664A probably benign Het
Slc27a5 T A 7: 12,997,560 Q168L probably benign Het
Spag8 T C 4: 43,651,781 E395G probably damaging Het
Stfa2l1 T C 16: 36,161,768 Y70H probably damaging Het
Taf2 T C 15: 55,028,376 N1017S probably benign Het
Tnfrsf25 C A 4: 152,119,322 Q296K probably damaging Het
Trpm3 T A 19: 22,698,779 I103N probably benign Het
Other mutations in P2ry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03008:P2ry1 APN 3 61003526 missense probably benign 0.01
IGL03083:P2ry1 APN 3 61004315 missense probably benign 0.21
IGL03238:P2ry1 APN 3 61004495 missense probably damaging 0.97
R0255:P2ry1 UTSW 3 61003530 missense probably benign
R2078:P2ry1 UTSW 3 61003697 missense probably damaging 0.97
R2325:P2ry1 UTSW 3 61003578 missense probably damaging 1.00
R2508:P2ry1 UTSW 3 61003479 missense probably damaging 1.00
R3418:P2ry1 UTSW 3 61003712 missense probably damaging 0.99
R3419:P2ry1 UTSW 3 61003712 missense probably damaging 0.99
R3848:P2ry1 UTSW 3 61003459 nonsense probably null
R4716:P2ry1 UTSW 3 61003472 missense probably damaging 1.00
R4728:P2ry1 UTSW 3 61004220 missense probably damaging 1.00
R4756:P2ry1 UTSW 3 61004477 missense probably benign 0.00
R4797:P2ry1 UTSW 3 61003460 missense probably benign 0.01
R5550:P2ry1 UTSW 3 61003811 missense probably damaging 1.00
R6108:P2ry1 UTSW 3 61004175 missense probably damaging 0.99
R6278:P2ry1 UTSW 3 61003794 missense possibly damaging 0.85
R6816:P2ry1 UTSW 3 61003832 missense probably benign 0.40
R7345:P2ry1 UTSW 3 61003674 missense possibly damaging 0.62
R7473:P2ry1 UTSW 3 61004088 missense probably damaging 0.97
Posted On2015-04-16