Incidental Mutation 'IGL03083:P2ry1'
ID417932
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? Possibly non essential (E-score: 0.310) question?
Stock #IGL03083
Quality Score
Status
Chromosome3
Chromosomal Location61002795-61008982 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61004315 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 292 (T292A)
Ref Sequence ENSEMBL: ENSMUSP00000141371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029331] [ENSMUST00000193201] [ENSMUST00000193943]
Predicted Effect probably benign
Transcript: ENSMUST00000029331
AA Change: T292A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029331
Gene: ENSMUSG00000027765
AA Change: T292A

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:7tm_1 68 324 4.8e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193201
AA Change: T292A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142006
Gene: ENSMUSG00000027765
AA Change: T292A

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:7tm_1 68 324 7.2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193943
AA Change: T292A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141371
Gene: ENSMUSG00000027765
AA Change: T292A

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,138,612 probably null Het
Acadsb A C 7: 131,441,193 probably benign Het
Ankk1 A G 9: 49,421,866 L106P probably benign Het
Ankrd24 G A 10: 81,638,649 A72T probably benign Het
Ankrd35 A T 3: 96,684,801 Q801L probably damaging Het
Avil A G 10: 127,016,324 I659M probably benign Het
Ccnc A G 4: 21,742,683 D170G possibly damaging Het
Cfap57 T C 4: 118,584,739 K711E probably damaging Het
Dctn1 T C 6: 83,197,484 probably benign Het
Dpp6 T C 5: 27,709,550 probably null Het
Efhb A T 17: 53,399,059 W817R probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fer1l4 A G 2: 156,039,366 probably benign Het
Fgf8 T C 19: 45,737,228 N137S probably damaging Het
Fndc3b T C 3: 27,467,427 D533G probably benign Het
Fshb A G 2: 107,057,467 V69A probably benign Het
Galnt7 A T 8: 57,526,189 H633Q probably damaging Het
Gm5458 A G 14: 19,602,383 probably null Het
Hfe2 T A 3: 96,528,606 D393E probably benign Het
Hpca A C 4: 129,118,526 F72L probably damaging Het
Inpp5d A T 1: 87,711,141 D552V probably damaging Het
Lepr C T 4: 101,814,679 Q967* probably null Het
Lgr5 A G 10: 115,453,032 V497A probably benign Het
Matr3 A G 18: 35,572,418 K132R probably damaging Het
Mib1 T G 18: 10,752,029 probably null Het
Mios T A 6: 8,215,156 N117K probably damaging Het
Nab1 T C 1: 52,490,270 D156G probably benign Het
Nfxl1 C T 5: 72,540,662 probably benign Het
Nutm2 G A 13: 50,467,444 G15E probably damaging Het
Oca2 A G 7: 56,295,484 H280R probably benign Het
Olfr118 C A 17: 37,672,660 C212* probably null Het
Olfr464 T C 11: 87,914,088 I273V probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pidd1 A G 7: 141,440,456 probably null Het
Pitpnm2 T C 5: 124,133,382 E376G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2a T C 11: 69,745,046 probably null Het
Sbno2 A T 10: 80,057,534 M1311K probably damaging Het
Senp7 A G 16: 56,171,865 N701S probably benign Het
Sirpa T A 2: 129,629,928 I211N probably damaging Het
Slc9a4 A G 1: 40,629,402 E735G probably benign Het
Sorbs1 C T 19: 40,314,376 M790I probably damaging Het
Sult1e1 T A 5: 87,590,124 M33L probably benign Het
Tapbpl G A 6: 125,228,228 probably null Het
Top1 A G 2: 160,703,578 T289A probably damaging Het
Trim58 T A 11: 58,651,390 M392K probably benign Het
Uaca A G 9: 60,863,663 I371V probably benign Het
Vmn1r54 T C 6: 90,269,872 I256T possibly damaging Het
Wdr19 T C 5: 65,230,976 I668T probably benign Het
Other mutations in P2ry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02324:P2ry1 APN 3 61003778 missense possibly damaging 0.83
IGL03008:P2ry1 APN 3 61003526 missense probably benign 0.01
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 On2016-08-02