Incidental Mutation 'R7345:P2ry1'
ID 570125
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 045379-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R7345 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 60910216-60916403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60911095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 78 (F78S)
Ref Sequence ENSEMBL: ENSMUSP00000029331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029331] [ENSMUST00000193201] [ENSMUST00000193943]
AlphaFold P49650
Predicted Effect possibly damaging
Transcript: ENSMUST00000029331
AA Change: F78S

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029331
Gene: ENSMUSG00000027765
AA Change: F78S

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: F78S

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142006
Gene: ENSMUSG00000027765
AA Change: F78S

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: F78S

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141371
Gene: ENSMUSG00000027765
AA Change: F78S

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:7tm_1 68 324 7.2e-47 PFAM
Meta Mutation Damage Score 0.1040 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks3 A G 16: 4,773,774 (GRCm39) M174T possibly damaging Het
Arhgap23 G A 11: 97,357,304 (GRCm39) R934Q possibly damaging Het
Atad5 T C 11: 79,986,832 (GRCm39) S640P probably damaging Het
B3galnt2 C T 13: 14,155,065 (GRCm39) probably null Het
B430305J03Rik T C 3: 61,271,539 (GRCm39) S69G unknown Het
Cd163 A T 6: 124,295,897 (GRCm39) N747I possibly damaging Het
Cep126 A G 9: 8,099,817 (GRCm39) S906P probably damaging Het
Cimip2b T C 4: 43,428,022 (GRCm39) D145G possibly damaging Het
Cyp4f39 G A 17: 32,705,753 (GRCm39) G318R probably damaging Het
D630003M21Rik C T 2: 158,059,129 (GRCm39) G257D probably damaging Het
Dcaf10 T C 4: 45,342,583 (GRCm39) L139P probably damaging Het
Dcc A G 18: 71,511,895 (GRCm39) V840A probably benign Het
Dnhd1 A T 7: 105,353,174 (GRCm39) I2776L probably benign Het
Fbxo24 G T 5: 137,619,523 (GRCm39) F234L probably damaging Het
Gm21190 T C 5: 15,732,902 (GRCm39) probably null Het
Grhl3 C T 4: 135,273,557 (GRCm39) R565Q probably damaging Het
Gtf3c1 A T 7: 125,244,842 (GRCm39) Y1731N probably damaging Het
Il1a C A 2: 129,146,693 (GRCm39) R133S probably benign Het
Ipo4 C T 14: 55,872,988 (GRCm39) R23Q probably benign Het
Klc3 G A 7: 19,128,814 (GRCm39) T481M probably benign Het
Map2k6 A T 11: 110,383,734 (GRCm39) I127F Het
Mapk8 A T 14: 33,130,068 (GRCm39) N63K probably damaging Het
Med13l T C 5: 118,880,825 (GRCm39) W1306R probably damaging Het
Megf6 C A 4: 154,351,772 (GRCm39) Q1162K probably benign Het
Myo5b A G 18: 74,841,095 (GRCm39) E992G possibly damaging Het
Ndst4 C T 3: 125,508,308 (GRCm39) T291M probably benign Het
Nek10 T A 14: 14,955,503 (GRCm38) F838L probably benign Het
Nrm A G 17: 36,175,476 (GRCm39) H194R probably damaging Het
Nup188 T C 2: 30,230,613 (GRCm39) S1384P probably benign Het
Olfml2a C A 2: 38,850,139 (GRCm39) D618E probably damaging Het
Or5p78 C T 7: 108,212,270 (GRCm39) T252I probably benign Het
Or8g23 A G 9: 38,971,875 (GRCm39) L29P probably damaging Het
Or8g24 G A 9: 38,989,630 (GRCm39) S137F probably damaging Het
Or9s18 A C 13: 65,300,557 (GRCm39) N173T possibly damaging Het
Pcdhb18 T C 18: 37,624,976 (GRCm39) F769L probably benign Het
Poc5 A G 13: 96,533,304 (GRCm39) E144G probably damaging Het
Pole T A 5: 110,451,769 (GRCm39) N870K possibly damaging Het
Polr2b T C 5: 77,496,966 (GRCm39) F1159L possibly damaging Het
Pramel32 T C 4: 88,546,416 (GRCm39) K309E possibly damaging Het
Rubcnl A G 14: 75,279,793 (GRCm39) Y392C probably benign Het
Sec31a T C 5: 100,533,129 (GRCm39) T539A probably damaging Het
Serpinh1 A C 7: 98,995,563 (GRCm39) S340A probably damaging Het
Slc1a5 T A 7: 16,530,085 (GRCm39) probably null Het
Soat2 A G 15: 102,071,013 (GRCm39) D469G probably benign Het
Speg T C 1: 75,361,479 (GRCm39) L70P probably damaging Het
Spred2 T C 11: 19,874,958 (GRCm39) probably null Het
Stac2 A C 11: 97,933,439 (GRCm39) S168A probably damaging Het
Stx1a T A 5: 135,066,042 (GRCm39) D31E probably benign Het
Timeless C T 10: 128,085,623 (GRCm39) T885M probably damaging Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tsen34 T C 7: 3,698,614 (GRCm39) Y253H probably damaging Het
Unc13b T C 4: 43,173,966 (GRCm39) V1598A unknown Het
Zfat A T 15: 67,976,892 (GRCm39) Y1086N probably damaging Het
Zfp551 G A 7: 12,150,522 (GRCm39) H296Y probably benign 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
R2078:P2ry1 UTSW 3 60,911,118 (GRCm39) missense probably damaging 0.97
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
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'- TCGCTTTGGGGAAACAGTAC -3'
(R):5'- CCAGAGACTTGAGAGGGTACAC -3'

Sequencing Primer
(F):5'- AGTACTGTCGCCTCAACTGCAG -3'
(R):5'- AGATGCTACCGTAGAGATTTACGTG -3'
Posted On 2019-09-13