Incidental Mutation 'R2078:P2ry1'
ID 229261
Institutional Source Beutler Lab
Gene Symbol P2ry1
Ensembl Gene ENSMUSG00000027765
Gene Name purinergic receptor P2Y, G-protein coupled 1
Synonyms P2Y1, P2y1r, P2Y1 receptor
MMRRC Submission 040083-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R2078 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 60910216-60916403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60911118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 86 (I86V)
Ref Sequence ENSEMBL: ENSMUSP00000141371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029331] [ENSMUST00000193201] [ENSMUST00000193943]
AlphaFold P49650
Predicted Effect probably damaging
Transcript: ENSMUST00000029331
AA Change: I86V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029331
Gene: ENSMUSG00000027765
AA Change: I86V

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:7tm_1 68 324 4.8e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193201
AA Change: I86V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142006
Gene: ENSMUSG00000027765
AA Change: I86V

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:7tm_1 68 324 7.2e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193943
AA Change: I86V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141371
Gene: ENSMUSG00000027765
AA Change: I86V

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C A 1: 75,148,780 (GRCm39) G55C probably damaging Het
Acss3 T C 10: 106,802,902 (GRCm39) T448A possibly damaging Het
Atxn7 A G 14: 14,052,975 (GRCm38) N138D probably damaging Het
Cacna2d4 A T 6: 119,315,077 (GRCm39) D869V probably benign Het
Cps1 T G 1: 67,196,965 (GRCm39) Y339D probably damaging Het
Cps1 T C 1: 67,234,424 (GRCm39) I937T possibly damaging Het
Dlgap4 T C 2: 156,604,746 (GRCm39) S261P probably damaging Het
Dusp6 T C 10: 99,099,686 (GRCm39) Y45H probably damaging Het
Ebag9 A G 15: 44,500,200 (GRCm39) N157S probably damaging Het
Exoc4 A G 6: 33,887,522 (GRCm39) D770G probably benign Het
Ezr A G 17: 7,050,041 (GRCm39) M1T probably null Het
Fat4 A G 3: 38,943,822 (GRCm39) N905S probably damaging Het
Fcrlb C G 1: 170,735,650 (GRCm39) R208P probably damaging Het
Flnb T C 14: 7,927,466 (GRCm38) V1892A probably damaging Het
Gas2 G A 7: 51,547,073 (GRCm39) V75M probably benign Het
Gda T A 19: 21,378,036 (GRCm39) D267V probably damaging Het
Gper1 A T 5: 139,411,888 (GRCm39) I78F probably benign Het
Hectd1 A C 12: 51,795,325 (GRCm39) I2368S probably damaging Het
Katna1 C T 10: 7,619,333 (GRCm39) P114S probably benign Het
Lce3c G A 3: 92,852,758 (GRCm39) S73N unknown Het
Lrfn3 A T 7: 30,059,879 (GRCm39) D115E possibly damaging Het
Lrrc47 C A 4: 154,103,888 (GRCm39) T505K probably damaging Het
Mertk C T 2: 128,636,378 (GRCm39) T784I probably damaging Het
Mettl21e T A 1: 44,245,662 (GRCm39) I195F possibly damaging Het
Mff T C 1: 82,719,642 (GRCm39) S207P probably damaging Het
Mtmr6 A G 14: 60,529,436 (GRCm39) probably null Het
Myh9 T C 15: 77,648,112 (GRCm39) K1788R probably benign Het
Narf A G 11: 121,136,220 (GRCm39) T199A probably benign Het
Neurod6 A G 6: 55,655,954 (GRCm39) S228P probably benign Het
Notch4 A T 17: 34,787,689 (GRCm39) probably null Het
Nyap2 T C 1: 81,169,696 (GRCm39) L151P probably damaging Het
Or5b21 T A 19: 12,839,751 (GRCm39) V204E probably benign Het
Pafah1b2 G T 9: 45,880,127 (GRCm39) D183E probably damaging Het
Phldb1 T C 9: 44,619,276 (GRCm39) E179G probably damaging Het
Piezo2 T C 18: 63,250,791 (GRCm39) E436G probably damaging Het
Pkhd1l1 A G 15: 44,391,163 (GRCm39) I1514V probably benign Het
Plch1 A G 3: 63,609,364 (GRCm39) S948P probably benign Het
Rfc5 A G 5: 117,518,868 (GRCm39) V296A probably benign Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rsbn1 A G 3: 103,868,839 (GRCm39) D626G probably damaging Het
Sfswap A G 5: 129,593,171 (GRCm39) D346G possibly damaging Het
Slc38a11 A T 2: 65,160,728 (GRCm39) F289I possibly damaging Het
Terf2ip A G 8: 112,742,035 (GRCm39) N243S probably benign Het
Tmed5 A T 5: 108,272,471 (GRCm39) V209E probably damaging Het
Tmem63b A G 17: 45,974,462 (GRCm39) S603P possibly damaging Het
Tomm20 T C 8: 127,663,822 (GRCm39) M121V possibly damaging Het
Tspan33 G A 6: 29,709,970 (GRCm39) V45I probably benign Het
Usp17la A T 7: 104,508,600 (GRCm39) M1L probably benign Het
Vsig8 C A 1: 172,390,856 (GRCm39) D301E probably benign Het
Vwa8 T A 14: 79,145,597 (GRCm39) H91Q probably damaging Het
Other mutations in P2ry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02324:P2ry1 APN 3 60,911,199 (GRCm39) missense possibly damaging 0.83
IGL03008:P2ry1 APN 3 60,910,947 (GRCm39) missense probably benign 0.01
IGL03083:P2ry1 APN 3 60,911,736 (GRCm39) missense probably benign 0.21
IGL03238:P2ry1 APN 3 60,911,916 (GRCm39) missense probably damaging 0.97
R0255:P2ry1 UTSW 3 60,910,951 (GRCm39) missense probably benign
R2325:P2ry1 UTSW 3 60,910,999 (GRCm39) missense probably damaging 1.00
R2508:P2ry1 UTSW 3 60,910,900 (GRCm39) missense probably damaging 1.00
R3418:P2ry1 UTSW 3 60,911,133 (GRCm39) missense probably damaging 0.99
R3419:P2ry1 UTSW 3 60,911,133 (GRCm39) missense probably damaging 0.99
R3848:P2ry1 UTSW 3 60,910,880 (GRCm39) nonsense probably null
R4716:P2ry1 UTSW 3 60,910,893 (GRCm39) missense probably damaging 1.00
R4728:P2ry1 UTSW 3 60,911,641 (GRCm39) missense probably damaging 1.00
R4756:P2ry1 UTSW 3 60,911,898 (GRCm39) missense probably benign 0.00
R4797:P2ry1 UTSW 3 60,910,881 (GRCm39) missense probably benign 0.01
R5550:P2ry1 UTSW 3 60,911,232 (GRCm39) missense probably damaging 1.00
R6108:P2ry1 UTSW 3 60,911,596 (GRCm39) missense probably damaging 0.99
R6278:P2ry1 UTSW 3 60,911,215 (GRCm39) missense possibly damaging 0.85
R6816:P2ry1 UTSW 3 60,911,253 (GRCm39) missense probably benign 0.40
R7345:P2ry1 UTSW 3 60,911,095 (GRCm39) missense possibly damaging 0.62
R7473:P2ry1 UTSW 3 60,911,509 (GRCm39) missense probably damaging 0.97
R8029:P2ry1 UTSW 3 60,910,943 (GRCm39) missense possibly damaging 0.86
R9353:P2ry1 UTSW 3 60,911,916 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGAAACAGTACTGTCGCCTCAAC -3'
(R):5'- ACTTGAGAGGGTACACCACG -3'

Sequencing Primer
(F):5'- AGTACTGTCGCCTCAACTGCAG -3'
(R):5'- ACGCCACTGTACCTGTGTG -3'
Posted On 2014-09-17