Incidental Mutation 'R6484:P2ry12'
ID 517238
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 044616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R6484 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 59123693-59170292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59124754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 307 (L307P)
Ref Sequence ENSEMBL: ENSMUSP00000143521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040325] [ENSMUST00000050360] [ENSMUST00000164225] [ENSMUST00000170388] [ENSMUST00000196583] [ENSMUST00000199609] [ENSMUST00000199675] [ENSMUST00000199659]
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 damaging
Transcript: ENSMUST00000050360
AA Change: L307P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051353
Gene: ENSMUSG00000036353
AA Change: L307P

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 damaging
Transcript: ENSMUST00000170388
AA Change: L307P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126819
Gene: ENSMUSG00000036353
AA Change: L307P

DomainStartEndE-ValueType
Pfam:7tm_1 23 304 1.5e-31 PFAM
low complexity region 322 335 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196583
AA Change: L307P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143036
Gene: ENSMUSG00000036353
AA Change: L307P

DomainStartEndE-ValueType
Pfam:7tm_1 48 304 1.3e-40 PFAM
low complexity region 322 335 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199609
AA Change: L307P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143521
Gene: ENSMUSG00000036353
AA Change: L307P

DomainStartEndE-ValueType
Pfam:7tm_1 23 304 1.5e-31 PFAM
low complexity region 322 335 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
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.7%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 A T 8: 80,416,952 (GRCm39) M353K probably damaging Het
Adgre4 G A 17: 56,109,036 (GRCm39) V348M possibly damaging Het
Alg8 T C 7: 97,032,135 (GRCm39) V228A probably benign Het
Bltp2 T C 11: 78,169,921 (GRCm39) V1548A probably damaging Het
Btbd8 T C 5: 107,651,451 (GRCm39) S115P probably benign Het
Car8 A G 4: 8,189,362 (GRCm39) F151L probably benign Het
CN725425 A G 15: 91,144,775 (GRCm39) Q546R probably benign Het
Col17a1 C T 19: 47,658,868 (GRCm39) V414M possibly damaging Het
Col6a3 C A 1: 90,719,645 (GRCm39) probably null Het
Cyp51 G A 5: 4,136,627 (GRCm39) T389M probably benign Het
Cyren G A 6: 34,851,551 (GRCm39) S101L probably damaging Het
Dazap1 A G 10: 80,113,481 (GRCm39) T126A probably benign Het
Dscc1 T A 15: 54,943,686 (GRCm39) K395* probably null Het
Dthd1 A G 5: 62,971,675 (GRCm39) N166S probably benign Het
Eefsec C G 6: 88,274,770 (GRCm39) W398S probably damaging Het
Enpep T A 3: 129,115,130 (GRCm39) H214L probably damaging Het
Esf1 T C 2: 140,000,458 (GRCm39) I443V probably benign Het
Espl1 T C 15: 102,231,935 (GRCm39) V1984A possibly damaging Het
Hip1 A G 5: 135,468,983 (GRCm39) S280P probably damaging Het
Il12rb1 C T 8: 71,262,348 (GRCm39) probably null Het
Itgax T A 7: 127,732,890 (GRCm39) C255S probably benign Het
Kifc5b T C 17: 27,143,746 (GRCm39) V506A probably damaging Het
Klf3 A G 5: 64,980,372 (GRCm39) E54G probably damaging Het
Lrig3 A G 10: 125,832,478 (GRCm39) probably null Het
Mctp1 A G 13: 76,836,744 (GRCm39) I104V probably benign Het
Mdga2 T C 12: 66,676,843 (GRCm39) E552G possibly damaging Het
Mpc1 A G 17: 8,515,788 (GRCm39) E160G possibly damaging Het
Myh10 T A 11: 68,590,293 (GRCm39) I76N probably damaging Het
Myh7b A T 2: 155,470,563 (GRCm39) I1032F probably benign Het
Olfml2a G A 2: 38,849,780 (GRCm39) V499I probably damaging Het
Or2h1 T A 17: 37,404,158 (GRCm39) I203F probably benign Het
Or4f58 A T 2: 111,851,764 (GRCm39) L145* probably null Het
Or5b105 A G 19: 13,080,431 (GRCm39) V79A probably benign Het
Pappa C A 4: 65,232,896 (GRCm39) A1345D probably damaging Het
Phox2b A G 5: 67,255,044 (GRCm39) I135T possibly damaging Het
Poln C T 5: 34,286,857 (GRCm39) A104T probably benign Het
Prkce A G 17: 86,798,237 (GRCm39) D342G probably benign Het
Ptchd3 T A 11: 121,733,764 (GRCm39) F885I possibly damaging Het
Rcbtb2 A T 14: 73,414,490 (GRCm39) S434C probably damaging Het
Rfc1 A G 5: 65,451,020 (GRCm39) V356A probably benign Het
Rln1 A G 19: 29,311,902 (GRCm39) F32S probably benign Het
Ryr2 A G 13: 11,677,269 (GRCm39) L3194P possibly damaging Het
Sat2 T C 11: 69,513,353 (GRCm39) V34A probably damaging Het
Scgb3a2 T C 18: 43,899,784 (GRCm39) I24T possibly damaging Het
Slc35e2 T G 4: 155,697,104 (GRCm39) V206G probably damaging Het
Slit3 A T 11: 35,552,125 (GRCm39) M890L probably benign Het
Sorl1 A G 9: 41,887,703 (GRCm39) L2042P probably damaging Het
Ssbp1 T A 6: 40,451,600 (GRCm39) V9E probably damaging Het
Tbc1d23 C T 16: 56,998,379 (GRCm39) V520M probably damaging Het
Thumpd2 T C 17: 81,361,617 (GRCm39) E203G probably benign Het
Tlr11 A G 14: 50,600,135 (GRCm39) D707G probably damaging Het
Tlr12 T A 4: 128,509,847 (GRCm39) D801V probably damaging Het
Tnrc6b T G 15: 80,763,525 (GRCm39) N342K possibly damaging Het
Vmn1r191 A C 13: 22,362,918 (GRCm39) F279V probably benign Het
Vmn2r13 A T 5: 109,304,540 (GRCm39) C630* probably null Het
Zbtb1 C T 12: 76,432,665 (GRCm39) T217I probably damaging Het
Zfp385b ATCTTCTTCTTCT ATCTTCTTCTTCTTCT 2: 77,549,992 (GRCm39) probably benign Het
Zzef1 C T 11: 72,786,097 (GRCm39) P2090S probably damaging 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
R1781:P2ry12 UTSW 3 59,125,199 (GRCm39) missense probably benign 0.04
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
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'- CTTGGAGCAGTCTGGATATTAAAGAC -3'
(R):5'- GGTTCAGCCAAAGTTCCCAAG -3'

Sequencing Primer
(F):5'- TATTAAAGACTGAAGCAGCCCCTTG -3'
(R):5'- ACGTCAAGGTTTTCATCATCATTGC -3'
Posted On 2018-05-21