Incidental Mutation 'R1781:P2ry12'
ID 195262
Institutional Source Beutler Lab
Gene Symbol P2ry12
Ensembl Gene ENSMUSG00000036353
Gene Name purinergic receptor P2Y, G-protein coupled 12
Synonyms P2Y12, 2900079B22Rik, 4921504D23Rik
MMRRC Submission 039812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R1781 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 59123693-59170292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59125199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 159 (F159L)
Ref Sequence ENSEMBL: ENSMUSP00000143521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040325] [ENSMUST00000050360] [ENSMUST00000164225] [ENSMUST00000170388] [ENSMUST00000196583] [ENSMUST00000199609] [ENSMUST00000199659] [ENSMUST00000199675]
AlphaFold Q9CPV9
Predicted Effect probably benign
Transcript: ENSMUST00000040325
SMART Domains Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 161 1.71e-24 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:Med12-LCEWAV 282 730 2.6e-207 PFAM
low complexity region 744 758 N/A INTRINSIC
low complexity region 853 872 N/A INTRINSIC
low complexity region 1455 1466 N/A INTRINSIC
low complexity region 1728 1742 N/A INTRINSIC
low complexity region 1769 1783 N/A INTRINSIC
Pfam:Med12-PQL 1803 2029 2.3e-14 PFAM
low complexity region 2055 2076 N/A INTRINSIC
low complexity region 2083 2101 N/A INTRINSIC
low complexity region 2116 2136 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050360
AA Change: F159L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000051353
Gene: ENSMUSG00000036353
AA Change: F159L

DomainStartEndE-ValueType
Pfam:7tm_1 48 304 1.3e-40 PFAM
low complexity region 322 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164225
SMART Domains Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 161 1.71e-24 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:Med12-LCEWAV 283 765 5e-187 PFAM
low complexity region 779 793 N/A INTRINSIC
low complexity region 888 907 N/A INTRINSIC
low complexity region 1490 1501 N/A INTRINSIC
low complexity region 1763 1777 N/A INTRINSIC
low complexity region 1804 1818 N/A INTRINSIC
Pfam:Med12-PQL 1840 2063 9.7e-66 PFAM
low complexity region 2090 2111 N/A INTRINSIC
low complexity region 2118 2136 N/A INTRINSIC
low complexity region 2151 2171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170388
AA Change: F159L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000126819
Gene: ENSMUSG00000036353
AA Change: F159L

DomainStartEndE-ValueType
Pfam:7tm_1 23 304 1.5e-31 PFAM
low complexity region 322 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196583
AA Change: F159L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143036
Gene: ENSMUSG00000036353
AA Change: F159L

DomainStartEndE-ValueType
Pfam:7tm_1 48 304 1.3e-40 PFAM
low complexity region 322 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199609
AA Change: F159L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143521
Gene: ENSMUSG00000036353
AA Change: F159L

DomainStartEndE-ValueType
Pfam:7tm_1 23 304 1.5e-31 PFAM
low complexity region 322 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199659
SMART Domains Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 161 1.71e-24 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:Med12-LCEWAV 282 765 5.5e-209 PFAM
low complexity region 779 793 N/A INTRINSIC
low complexity region 888 907 N/A INTRINSIC
low complexity region 1490 1501 N/A INTRINSIC
low complexity region 1761 1775 N/A INTRINSIC
low complexity region 1802 1816 N/A INTRINSIC
Pfam:Med12-PQL 1836 2062 1.7e-15 PFAM
low complexity region 2088 2130 N/A INTRINSIC
low complexity region 2144 2164 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199675
SMART Domains Protein: ENSMUSP00000143706
Gene: ENSMUSG00000036353

DomainStartEndE-ValueType
PDB:4PY0|A 2 116 5e-59 PDB
SCOP:d1l9ha_ 3 116 8e-9 SMART
Meta Mutation Damage Score 0.0904 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.1%
Validation Efficiency 97% (88/91)
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 is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in impaired platelet activation, increased bleeding time and delayed thrombus formation in injured arteries. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,932,117 (GRCm39) K211E probably damaging Het
Abca13 T A 11: 9,219,194 (GRCm39) L376Q probably damaging Het
Abca17 T C 17: 24,486,531 (GRCm39) T1499A possibly damaging Het
Anks6 A C 4: 47,043,639 (GRCm39) N363K possibly damaging Het
Apob T A 12: 8,059,603 (GRCm39) I2695N possibly damaging Het
Arhgef18 C T 8: 3,430,495 (GRCm39) R123W probably damaging Het
Atg14 T A 14: 47,786,607 (GRCm39) probably null Het
Atg2a A T 19: 6,306,243 (GRCm39) I1368F probably damaging Het
Btbd9 A G 17: 30,732,567 (GRCm39) S373P probably damaging Het
Ccdc83 T C 7: 89,899,749 (GRCm39) E41G probably damaging Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdh8 T C 8: 99,917,094 (GRCm39) probably null Het
Cdh8 A T 8: 100,006,290 (GRCm39) I99N probably damaging Het
Cdr2 G A 7: 120,557,268 (GRCm39) P419L probably benign Het
Cds1 T A 5: 101,960,416 (GRCm39) I289K possibly damaging Het
Cherp G A 8: 73,221,615 (GRCm39) T394I probably damaging Het
Cyp4f17 T G 17: 32,742,993 (GRCm39) I222S possibly damaging Het
Dcc A G 18: 71,511,788 (GRCm39) S856P probably benign Het
Dcp1a C T 14: 30,235,032 (GRCm39) T221I probably benign Het
Ddx10 A G 9: 53,118,845 (GRCm39) S475P probably damaging Het
Dennd5b G T 6: 148,928,896 (GRCm39) A759E probably damaging Het
Disp2 G A 2: 118,623,042 (GRCm39) G1258D probably damaging Het
Fhdc1 A T 3: 84,356,111 (GRCm39) D444E probably damaging Het
Fhod1 T C 8: 106,074,421 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,800 (GRCm39) K8R probably benign Het
Gk5 C T 9: 96,015,508 (GRCm39) T108I possibly damaging Het
Gm8214 C A 1: 183,414,129 (GRCm39) noncoding transcript Het
Gnl1 A T 17: 36,298,638 (GRCm39) I434F probably damaging Het
Golga2 T C 2: 32,196,588 (GRCm39) Y986H probably damaging Het
Gpr21 T C 2: 37,407,550 (GRCm39) V32A probably benign Het
Grb14 A T 2: 64,805,899 (GRCm39) probably null Het
H6pd A T 4: 150,080,388 (GRCm39) F144L probably damaging Het
Hunk A G 16: 90,229,448 (GRCm39) Y27C probably damaging Het
Ints7 C T 1: 191,328,396 (GRCm39) T223M possibly damaging Het
Kcnmb2 T C 3: 32,233,152 (GRCm39) probably null Het
Lilra6 A T 7: 3,918,066 (GRCm39) L26H probably benign Het
Mc4r A T 18: 66,992,918 (GRCm39) V65E probably damaging Het
Mgam G A 6: 40,646,797 (GRCm39) G708R probably damaging Het
Mllt6 A G 11: 97,563,395 (GRCm39) D326G probably benign Het
Myo7a A T 7: 97,722,331 (GRCm39) V1198D probably damaging Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Nlrp4b G C 7: 10,449,266 (GRCm39) V123L probably benign Het
Ntpcr T A 8: 126,472,141 (GRCm39) L150Q probably damaging Het
Obscn C T 11: 58,997,163 (GRCm39) E1513K probably damaging Het
Ola1 T C 2: 72,987,099 (GRCm39) K178E possibly damaging Het
Opalin T C 19: 41,056,070 (GRCm39) probably null Het
Or10g6 A G 9: 39,934,541 (GRCm39) N284S probably damaging Het
Or13a20 A T 7: 140,232,419 (GRCm39) I176F probably damaging Het
Or2ad1 C T 13: 21,326,934 (GRCm39) V98I probably benign Het
Or2w2 C T 13: 21,757,711 (GRCm39) G305D probably damaging Het
Or3a10 A T 11: 73,935,786 (GRCm39) F105I probably damaging Het
Or51ah3 C T 7: 103,209,773 (GRCm39) P30S probably benign Het
Or52ae9 T C 7: 103,390,028 (GRCm39) M140V probably benign Het
Or52e15 A T 7: 104,645,315 (GRCm39) F265L possibly damaging Het
Or5p62 A G 7: 107,771,090 (GRCm39) V287A probably benign Het
Or7a35 T C 10: 78,853,159 (GRCm39) M1T probably null Het
Paqr7 T C 4: 134,234,592 (GRCm39) probably null Het
Parp1 T C 1: 180,415,578 (GRCm39) S466P probably benign Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh1 T C 18: 38,322,977 (GRCm39) D952G probably damaging Het
Pde6c T C 19: 38,140,146 (GRCm39) S336P possibly damaging Het
Pgk2 T C 17: 40,519,398 (GRCm39) D10G probably benign Het
Phf20l1 A G 15: 66,504,674 (GRCm39) T771A probably damaging Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Plekhm1 A G 11: 103,285,682 (GRCm39) L251P probably damaging Het
Prex2 A T 1: 11,270,179 (GRCm39) N1288I probably benign Het
Sarnp T C 10: 128,669,191 (GRCm39) L16P probably damaging Het
Scgb3a2 T C 18: 43,900,033 (GRCm39) probably benign Het
Scn11a A T 9: 119,584,148 (GRCm39) I1489N probably damaging Het
Scn3a A T 2: 65,302,729 (GRCm39) L1239Q probably damaging Het
Shisa9 T C 16: 12,085,521 (GRCm39) S377P probably benign Het
Slc22a30 T A 19: 8,313,136 (GRCm39) T550S probably damaging Het
Slc25a11 T C 11: 70,535,651 (GRCm39) T296A probably benign Het
Slc35f1 T A 10: 52,938,532 (GRCm39) probably null Het
Slc6a13 A G 6: 121,311,811 (GRCm39) E396G probably damaging Het
Spata31d1c T C 13: 65,183,985 (GRCm39) I509T probably benign Het
Srsf9 C A 5: 115,465,481 (GRCm39) Y9* probably null Het
Tasor2 T C 13: 3,634,759 (GRCm39) T683A possibly damaging Het
Tbx20 T C 9: 24,636,795 (GRCm39) I431V probably benign Het
Tespa1 G A 10: 130,184,119 (GRCm39) G67S probably benign Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Trip12 A T 1: 84,708,342 (GRCm39) F1739I probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 G A 17: 31,187,524 (GRCm39) R196H probably damaging Het
Vezf1 G T 11: 87,972,447 (GRCm39) M269I probably benign Het
Vmn1r35 A T 6: 66,656,550 (GRCm39) M40K probably benign Het
Vmn1r9 G T 6: 57,048,300 (GRCm39) C125F probably benign Het
Vmn2r12 C A 5: 109,239,594 (GRCm39) G323V probably benign Het
Vmn2r79 A T 7: 86,651,555 (GRCm39) H318L probably benign Het
Zfhx3 T A 8: 109,520,167 (GRCm39) S430T probably benign Het
Other mutations in P2ry12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:P2ry12 APN 3 59,125,303 (GRCm39) missense probably damaging 1.00
IGL03075:P2ry12 APN 3 59,125,579 (GRCm39) missense probably damaging 1.00
IGL02796:P2ry12 UTSW 3 59,125,302 (GRCm39) missense probably damaging 1.00
R0707:P2ry12 UTSW 3 59,124,908 (GRCm39) missense probably damaging 1.00
R1274:P2ry12 UTSW 3 59,124,641 (GRCm39) missense possibly damaging 0.83
R1321:P2ry12 UTSW 3 59,124,646 (GRCm39) missense possibly damaging 0.94
R1513:P2ry12 UTSW 3 59,125,498 (GRCm39) missense probably damaging 1.00
R2108:P2ry12 UTSW 3 59,124,774 (GRCm39) missense probably damaging 1.00
R3430:P2ry12 UTSW 3 59,125,448 (GRCm39) missense probably damaging 1.00
R4119:P2ry12 UTSW 3 59,125,262 (GRCm39) missense probably benign 0.00
R4499:P2ry12 UTSW 3 59,125,078 (GRCm39) missense probably damaging 0.97
R4501:P2ry12 UTSW 3 59,125,078 (GRCm39) missense probably damaging 0.97
R4670:P2ry12 UTSW 3 59,125,325 (GRCm39) splice site probably null
R4823:P2ry12 UTSW 3 59,125,318 (GRCm39) missense probably benign 0.00
R5643:P2ry12 UTSW 3 59,125,516 (GRCm39) missense possibly damaging 0.96
R5644:P2ry12 UTSW 3 59,125,516 (GRCm39) missense possibly damaging 0.96
R6246:P2ry12 UTSW 3 59,124,950 (GRCm39) missense probably benign 0.00
R6261:P2ry12 UTSW 3 59,125,328 (GRCm39) missense probably null 0.87
R6473:P2ry12 UTSW 3 59,124,932 (GRCm39) missense probably benign 0.06
R6484:P2ry12 UTSW 3 59,124,754 (GRCm39) missense probably damaging 1.00
R6654:P2ry12 UTSW 3 59,125,441 (GRCm39) missense probably damaging 1.00
R7151:P2ry12 UTSW 3 59,125,127 (GRCm39) missense probably benign 0.01
R7446:P2ry12 UTSW 3 59,124,632 (GRCm39) makesense probably null
R7676:P2ry12 UTSW 3 59,125,178 (GRCm39) missense possibly damaging 0.81
R7984:P2ry12 UTSW 3 59,125,022 (GRCm39) missense probably damaging 1.00
R8164:P2ry12 UTSW 3 59,125,037 (GRCm39) missense possibly damaging 0.89
R8905:P2ry12 UTSW 3 59,124,997 (GRCm39) missense probably damaging 1.00
R9042:P2ry12 UTSW 3 59,125,456 (GRCm39) missense probably damaging 1.00
R9625:P2ry12 UTSW 3 59,125,496 (GRCm39) missense possibly damaging 0.93
R9651:P2ry12 UTSW 3 59,134,931 (GRCm39) intron probably benign
RF018:P2ry12 UTSW 3 59,124,833 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- ATCAAGGCAGGCGTTCAGTGAC -3'
(R):5'- TCACGAACAGCTTGGCAATGAGG -3'

Sequencing Primer
(F):5'- TCCTTCACGTAGAACAGGGTG -3'
(R):5'- AGGATTTTCTTTCAGATCCGCAG -3'
Posted On 2014-05-23