Incidental Mutation 'R6278:P2ry1'
ID 507763
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 044448-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R6278 (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 A at 60911215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 118 (I118N)
Ref Sequence ENSEMBL: ENSMUSP00000141371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029331] [ENSMUST00000193201] [ENSMUST00000193943]
AlphaFold P49650
Predicted Effect possibly damaging
Transcript: ENSMUST00000029331
AA Change: I118N

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029331
Gene: ENSMUSG00000027765
AA Change: I118N

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: I118N

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142006
Gene: ENSMUSG00000027765
AA Change: I118N

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: I118N

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141371
Gene: ENSMUSG00000027765
AA Change: I118N

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency 100% (49/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T C 7: 119,373,072 (GRCm39) S192P probably damaging Het
Amy1 T A 3: 113,355,339 (GRCm39) Y348F probably damaging Het
Brpf3 C A 17: 29,040,258 (GRCm39) P893H probably benign Het
Cage1 T C 13: 38,200,395 (GRCm39) T702A possibly damaging Het
Cdk11b A G 4: 155,734,060 (GRCm39) probably benign Het
Cdk5rap3 T C 11: 96,802,729 (GRCm39) Y207C probably damaging Het
Cenpc1 T C 5: 86,183,394 (GRCm39) K465R probably damaging Het
Cldn14 A C 16: 93,716,486 (GRCm39) L120R possibly damaging Het
Cyp2c69 A T 19: 39,831,507 (GRCm39) C435* probably null Het
Dmxl2 T A 9: 54,323,046 (GRCm39) E1446V probably damaging Het
Dnah17 T A 11: 118,017,116 (GRCm39) D208V probably damaging Het
Eif4g3 G T 4: 137,915,394 (GRCm39) G1430V possibly damaging Het
Eif5 T A 12: 111,509,227 (GRCm39) D284E probably benign Het
Fam47e T C 5: 92,710,376 (GRCm39) L125P probably damaging Het
Far1 A G 7: 113,167,344 (GRCm39) I476M probably benign Het
Fsip2 A T 2: 82,819,242 (GRCm39) I4992L probably benign Het
Gli3 T A 13: 15,899,698 (GRCm39) N1028K possibly damaging Het
Gucy1a1 T C 3: 82,004,941 (GRCm39) K615E probably damaging Het
Gykl1 G T 18: 52,828,280 (GRCm39) S496I probably benign Het
Hmcn1 C T 1: 150,573,170 (GRCm39) probably null Het
Itga2 T A 13: 114,982,424 (GRCm39) H1027L probably benign Het
Kif24 A T 4: 41,423,498 (GRCm39) V251E probably damaging Het
Nupr1 T C 7: 126,224,518 (GRCm39) Y30C probably damaging Het
Or5b119 T A 19: 13,457,119 (GRCm39) M148L probably benign Het
Or5g29 A G 2: 85,421,342 (GRCm39) I153V probably benign Het
Or5w14 A T 2: 87,541,815 (GRCm39) L145* probably null Het
Or8g26 T A 9: 39,095,594 (GRCm39) I40N probably damaging Het
Pcdh1 C T 18: 38,332,263 (GRCm39) V247M probably benign Het
Pdia5 A G 16: 35,250,293 (GRCm39) V222A possibly damaging Het
Plce1 G A 19: 38,713,495 (GRCm39) probably null Het
Ppm1m T C 9: 106,074,427 (GRCm39) R239G probably damaging Het
Pramel30 C T 4: 144,056,837 (GRCm39) P7S probably damaging Het
Prkcz A T 4: 155,352,652 (GRCm39) F492I probably damaging Het
Rpl6 T C 5: 121,346,912 (GRCm39) I269T possibly damaging Het
Scoc T C 8: 84,184,965 (GRCm39) S2G unknown Het
Spesp1 A T 9: 62,179,921 (GRCm39) M329K probably benign Het
Ston2 T C 12: 91,615,104 (GRCm39) K435E probably damaging Het
Synj2 A T 17: 6,026,149 (GRCm39) L69F probably damaging Het
Tigd5 T C 15: 75,781,842 (GRCm39) I68T probably damaging Het
Tmcc2 A T 1: 132,286,720 (GRCm39) M577K probably damaging Het
Tmem131l A T 3: 83,849,798 (GRCm39) I263N possibly damaging Het
Trip13 T C 13: 74,061,439 (GRCm39) E408G probably benign Het
Txnl4b T C 8: 110,295,735 (GRCm39) probably null Het
Ube2o T C 11: 116,430,369 (GRCm39) E1123G probably damaging Het
Vmn1r123 A G 7: 20,896,774 (GRCm39) H222R possibly damaging Het
Vmn2r73 G T 7: 85,522,140 (GRCm39) H66Q probably benign Het
Zc3h13 T A 14: 75,567,863 (GRCm39) V1052D 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
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'- AATGTGCCCTGACCAAGACC -3'
(R):5'- ACCAGCACGCTGACATAAATGG -3'

Sequencing Primer
(F):5'- GACCAAGACCGGTTTCCAGTTC -3'
(R):5'- CACGCTGACATAAATGGCATTCTTC -3'
Posted On 2018-03-15