Incidental Mutation 'IGL03083:P2ry1'
ID 417932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2ry1
Ensembl Gene ENSMUSG00000027765
Gene Name purinergic receptor P2Y, G-protein coupled 1
Synonyms P2Y1, P2y1r, P2Y1 receptor
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # IGL03083
Quality Score
Status
Chromosome 3
Chromosomal Location 60910216-60916403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60911736 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P49650
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: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T 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
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
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
Posted On 2016-08-02