Mutagenetix > Incidental Mutation

Incidental Mutation 'R7151:P2ry12'

554111

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

045253-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59123693-59170292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59125127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 183 (F183L)

Ref Sequence

ENSEMBL: ENSMUSP00000051353 (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

Domain	Start	End	E-Value	Type
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: F183L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000051353
Gene: ENSMUSG00000036353
AA Change: F183L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: F183L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000126819
Gene: ENSMUSG00000036353
AA Change: F183L

Domain	Start	End	E-Value	Type
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: F183L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143036
Gene: ENSMUSG00000036353
AA Change: F183L

Domain	Start	End	E-Value	Type
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: F183L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143521
Gene: ENSMUSG00000036353
AA Change: F183L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
PDB:4PY0\|A	2	116	5e-59	PDB
SCOP:d1l9ha_	3	116	8e-9	SMART

Meta Mutation Damage Score

0.0668

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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 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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	A	2: 32,630,618 (GRCm39)	Q52L	unknown	Het
Acsl1	A	G	8: 46,966,634 (GRCm39)	D202G	probably damaging	Het
Adam3	A	T	8: 25,185,271 (GRCm39)	C476S	probably damaging	Het
Adam34	T	A	8: 44,104,499 (GRCm39)	E382V	probably benign	Het
Akap5	G	A	12: 76,375,023 (GRCm39)	V152I	probably benign	Het
Aldh5a1	C	T	13: 25,121,382 (GRCm39)	W57*	probably null	Het
Angptl2	C	T	2: 33,133,922 (GRCm39)	Q415*	probably null	Het
Bnc1	G	T	7: 81,623,055 (GRCm39)	T724N	possibly damaging	Het
Brca2	T	C	5: 150,464,901 (GRCm39)	V1555A	probably benign	Het
Btn1a1	T	A	13: 23,643,483 (GRCm39)	D322V	probably damaging	Het
Chsy3	T	A	18: 59,542,357 (GRCm39)	D498E	possibly damaging	Het
Ddx24	T	C	12: 103,390,347 (GRCm39)	T215A	probably benign	Het
Dhx57	A	T	17: 80,580,476 (GRCm39)	V492E	probably damaging	Het
Dnhd1	G	A	7: 105,359,234 (GRCm39)	R3523Q	probably benign	Het
Dock3	T	A	9: 106,841,916 (GRCm39)	D971V	possibly damaging	Het
Ercc8	T	C	13: 108,323,816 (GRCm39)		probably null	Het
Erich5	T	A	15: 34,471,095 (GRCm39)	L108Q	probably damaging	Het
F5	A	T	1: 164,029,230 (GRCm39)	Y1743F	probably damaging	Het
Gale	T	C	4: 135,694,503 (GRCm39)	V243A	probably damaging	Het
Gspt1	T	A	16: 11,071,692 (GRCm39)	Q57L	probably benign	Het
Gtf3a	C	A	5: 146,888,085 (GRCm39)	Q129K	probably benign	Het
Heyl	T	C	4: 123,140,254 (GRCm39)	V271A	probably benign	Het
Hsd17b4	T	C	18: 50,261,437 (GRCm39)	F7L	probably damaging	Het
Hspa12a	T	C	19: 58,810,594 (GRCm39)	T150A	probably benign	Het
Ift140	T	A	17: 25,274,699 (GRCm39)	D790E	probably damaging	Het
Igkv4-69	T	A	6: 69,260,917 (GRCm39)	Y70F	probably damaging	Het
Il1rap	T	C	16: 26,530,878 (GRCm39)	Y405H	probably damaging	Het
Insyn2a	A	C	7: 134,520,374 (GRCm39)	I52S	probably damaging	Het
Irf2bpl	G	T	12: 86,930,127 (GRCm39)	P182Q	probably benign	Het
Itm2b	C	A	14: 73,605,829 (GRCm39)		probably benign	Het
Kcnc2	T	C	10: 112,294,414 (GRCm39)	V106A	possibly damaging	Het
Krt87	C	A	15: 101,387,529 (GRCm39)	D170Y	probably damaging	Het
Lca5	T	A	9: 83,280,693 (GRCm39)	Y369F	probably benign	Het
Mgat5	T	A	1: 127,373,999 (GRCm39)	D466E	probably damaging	Het
Mier3	C	T	13: 111,851,302 (GRCm39)	P428L	probably benign	Het
Myo6	T	C	9: 80,152,418 (GRCm39)	Y167H	unknown	Het
Neu2	A	G	1: 87,524,297 (GRCm39)	E94G	probably benign	Het
Nlrp9a	A	T	7: 26,256,672 (GRCm39)	K97*	probably null	Het
Npdc1	A	G	2: 25,299,120 (GRCm39)	M306V	probably damaging	Het
Odf2l	A	T	3: 144,832,827 (GRCm39)	N95I	probably benign	Het
Or10j3	A	G	1: 173,031,633 (GRCm39)	K237E	probably damaging	Het
Or13d1	G	T	4: 52,970,665 (GRCm39)	V15L	probably benign	Het
Or5t16	A	G	2: 86,819,385 (GRCm39)	V45A	probably benign	Het
Or7g21	A	G	9: 19,033,037 (GRCm39)	Y259C	possibly damaging	Het
Proser3	A	G	7: 30,239,749 (GRCm39)	F452L	possibly damaging	Het
Ptgfrn	G	T	3: 100,987,511 (GRCm39)	Y117*	probably null	Het
Rab3gap2	G	T	1: 184,980,250 (GRCm39)	V360F	probably benign	Het
Rp1l1	A	T	14: 64,266,475 (GRCm39)	D687V	possibly damaging	Het
Rxfp2	T	G	5: 149,966,572 (GRCm39)	N103K	probably benign	Het
Scfd2	T	A	5: 74,558,326 (GRCm39)	Q517L	possibly damaging	Het
Scnn1b	G	A	7: 121,517,109 (GRCm39)	A582T	probably damaging	Het
Serpinb6e	T	C	13: 34,021,818 (GRCm39)	E170G	probably damaging	Het
Serpinb8	T	A	1: 107,533,527 (GRCm39)	V194E	probably damaging	Het
Sgcz	T	A	8: 38,006,833 (GRCm39)	H191L	possibly damaging	Het
Sirt1	A	T	10: 63,159,775 (GRCm39)	L435Q	probably damaging	Het
Sorcs1	G	A	19: 50,301,420 (GRCm39)	P315S	probably damaging	Het
Spdef	T	A	17: 27,939,134 (GRCm39)	S71C	possibly damaging	Het
Spta1	T	A	1: 174,025,317 (GRCm39)	H727Q	probably damaging	Het
Srsf1	C	T	11: 87,940,084 (GRCm39)	Q199*	probably null	Het
Stard9	A	T	2: 120,526,623 (GRCm39)	D960V	probably benign	Het
Tcp10c	A	T	17: 13,576,166 (GRCm39)	I49F	possibly damaging	Het
Tgm2	T	C	2: 157,971,315 (GRCm39)	N308S	possibly damaging	Het
Tiam2	A	G	17: 3,498,660 (GRCm39)	D812G	probably benign	Het
Tph1	A	T	7: 46,311,541 (GRCm39)	V67D	possibly damaging	Het
Trps1	C	T	15: 50,685,793 (GRCm39)	R794H	possibly damaging	Het
Ttn	C	T	2: 76,683,505 (GRCm39)	A906T		Het
Vmn1r124	G	A	7: 20,994,184 (GRCm39)	P120L	probably benign	Het
Vmn2r92	A	T	17: 18,387,005 (GRCm39)	T115S	probably benign	Het
Wdr11	A	G	7: 129,208,376 (GRCm39)	D377G	probably damaging	Het
Wdr55	G	T	18: 36,895,989 (GRCm39)	A251S	possibly damaging	Het
Zbtb7b	C	T	3: 89,288,209 (GRCm39)	R203H	probably benign	Het
Zfp109	A	T	7: 23,929,231 (GRCm39)	H67Q	probably benign	Het
Zfp462	G	A	4: 55,051,271 (GRCm39)	C2248Y	probably damaging	Het
Zyg11b	T	C	4: 108,102,119 (GRCm39)	H534R	possibly damaging	Het

Other mutations in P2ry12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TAGGGAATCCGTGCAAAGTG -3'
(R):5'- CATTGACCGCTACCTGAAGAC -3'

Sequencing Primer
(F):5'- CAGCAATGATGATGAAAACCTTGAC -3'
(R):5'- GCTACCTGAAGACCACCAGG -3'

Posted On

2019-05-15