Mutagenetix > Incidental Mutation

Incidental Mutation 'R5643:P2ry12'

440827

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

043291-MU

Accession Numbers

Essential gene?

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

Stock #

R5643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59123693-59170292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59125516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 53 (M53K)

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

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

possibly damaging
Transcript: ENSMUST00000050360
AA Change: M53K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051353
Gene: ENSMUSG00000036353
AA Change: M53K

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

possibly damaging
Transcript: ENSMUST00000170388
AA Change: M53K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126819
Gene: ENSMUSG00000036353
AA Change: M53K

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

possibly damaging
Transcript: ENSMUST00000196583
AA Change: M53K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143036
Gene: ENSMUSG00000036353
AA Change: M53K

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

possibly damaging
Transcript: ENSMUST00000199609
AA Change: M53K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143521
Gene: ENSMUSG00000036353
AA Change: M53K

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

possibly damaging
Transcript: ENSMUST00000199675
AA Change: M53K

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143706
Gene: ENSMUSG00000036353
AA Change: M53K

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

0.4408

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (110/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,021 (GRCm39)	K3102E	possibly damaging	Het
Akap13	T	C	7: 75,351,902 (GRCm39)		probably null	Het
Akp3	A	T	1: 87,055,485 (GRCm39)	T511S	unknown	Het
Alkal2	T	A	12: 30,934,889 (GRCm39)	L36Q	probably damaging	Het
Arhgef17	A	T	7: 100,529,218 (GRCm39)	V523E	probably damaging	Het
Asah1	G	T	8: 41,813,332 (GRCm39)	T27K	possibly damaging	Het
Bag2	A	G	1: 33,786,034 (GRCm39)	V96A	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
C4b	T	C	17: 34,961,391 (GRCm39)	I189M	probably benign	Het
Calcr	A	G	6: 3,708,538 (GRCm39)	I216T	probably damaging	Het
Cdk5rap2	T	A	4: 70,184,970 (GRCm39)	D1160V	probably damaging	Het
Cep128	A	T	12: 91,315,625 (GRCm39)	I87K	probably damaging	Het
Cep170b	C	G	12: 112,707,275 (GRCm39)	H1256Q	probably benign	Het
Chd2	A	T	7: 73,134,232 (GRCm39)	V705E	probably damaging	Het
Clec12b	T	A	6: 129,356,923 (GRCm39)	I172L	probably benign	Het
Cobl	A	T	11: 12,256,948 (GRCm39)		probably benign	Het
Col5a2	T	A	1: 45,429,202 (GRCm39)	D972V	probably damaging	Het
Csrp1	A	T	1: 135,678,797 (GRCm39)	N174I	probably damaging	Het
Dnah7a	T	A	1: 53,444,866 (GRCm39)	H3946L	probably benign	Het
Dnajc21	A	T	15: 10,462,001 (GRCm39)	D133E	probably benign	Het
Dvl3	T	A	16: 20,345,026 (GRCm39)	I353N	probably damaging	Het
Elavl3	A	T	9: 21,930,029 (GRCm39)	S292T	probably benign	Het
Ephb2	T	C	4: 136,498,923 (GRCm39)	N52S	probably damaging	Het
Gaa	T	A	11: 119,171,361 (GRCm39)	M671K	possibly damaging	Het
Gabrg3	T	C	7: 56,423,032 (GRCm39)	D222G	possibly damaging	Het
Gk5	C	T	9: 96,022,709 (GRCm39)	Q182*	probably null	Het
Gm14403	A	T	2: 177,199,054 (GRCm39)	H50L	possibly damaging	Het
Gzma	T	C	13: 113,234,794 (GRCm39)	T66A	probably damaging	Het
Hint2	T	C	4: 43,656,445 (GRCm39)		probably benign	Het
Hnmt	A	T	2: 23,904,251 (GRCm39)	W137R	probably damaging	Het
Hoga1	T	C	19: 42,048,402 (GRCm39)	V90A	probably benign	Het
Idua	A	T	5: 108,828,090 (GRCm39)		probably benign	Het
Kif1a	A	C	1: 92,983,489 (GRCm39)	S669R	probably damaging	Het
Klhdc7b	A	T	15: 89,271,862 (GRCm39)	M915L	possibly damaging	Het
Klhl41	A	G	2: 69,500,815 (GRCm39)	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,633,420 (GRCm39)	C186S	probably damaging	Het
Lmo7	A	G	14: 102,166,772 (GRCm39)		probably benign	Het
Lrriq1	T	C	10: 103,051,301 (GRCm39)	M484V	probably benign	Het
Lzts1	A	G	8: 69,591,729 (GRCm39)	S140P	possibly damaging	Het
Mgat5b	T	A	11: 116,864,226 (GRCm39)	V464E	probably damaging	Het
Mms19	A	T	19: 41,944,305 (GRCm39)	D298E	possibly damaging	Het
Muc5ac	T	C	7: 141,347,452 (GRCm39)		probably null	Het
Mycbp2	T	A	14: 103,524,770 (GRCm39)	K597I	probably damaging	Het
Myo18a	C	A	11: 77,745,513 (GRCm39)	D1619E	probably benign	Het
Nfx1	T	C	4: 40,984,973 (GRCm39)	W366R	probably null	Het
Nipbl	C	T	15: 8,388,391 (GRCm39)	V410I	probably benign	Het
Or14j10	T	A	17: 37,935,323 (GRCm39)	I68F	probably benign	Het
Or4c101	T	A	2: 88,389,849 (GRCm39)	M1K	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52h1	T	C	7: 103,829,091 (GRCm39)	I175V	probably benign	Het
Or5b95	A	T	19: 12,658,336 (GRCm39)	Y288F	probably damaging	Het
Or7g32	A	T	9: 19,388,853 (GRCm39)	M231K	probably benign	Het
Or8u10	T	C	2: 85,915,503 (GRCm39)	N206S	probably damaging	Het
Otog	A	T	7: 45,936,871 (GRCm39)	T1527S	probably damaging	Het
Pask	A	G	1: 93,265,065 (GRCm39)		probably null	Het
Pcca	G	A	14: 123,124,481 (GRCm39)	C684Y	probably damaging	Het
Pcdhb10	A	G	18: 37,546,219 (GRCm39)	T432A	possibly damaging	Het
Peak1	T	C	9: 56,166,039 (GRCm39)	N630D	probably damaging	Het
Plbd2	A	T	5: 120,631,231 (GRCm39)		probably null	Het
Plekhg5	T	C	4: 152,188,797 (GRCm39)	V200A	probably benign	Het
Pola2	A	G	19: 6,011,198 (GRCm39)	V42A	probably benign	Het
Ppfibp2	T	A	7: 107,337,097 (GRCm39)	W572R	probably damaging	Het
Ppp6r1	C	T	7: 4,636,771 (GRCm39)	E679K	probably benign	Het
Pramel11	A	T	4: 143,622,337 (GRCm39)	H339Q	probably damaging	Het
Prdx3	G	A	19: 60,859,963 (GRCm39)	A70V	probably damaging	Het
Prkd2	T	C	7: 16,577,717 (GRCm39)	F57L	probably benign	Het
Prodh2	A	G	7: 30,206,171 (GRCm39)	T324A	possibly damaging	Het
Ptdss1	T	C	13: 67,120,604 (GRCm39)	F267L	probably damaging	Het
Rai14	T	A	15: 10,593,137 (GRCm39)	H169L	probably benign	Het
Rere	A	G	4: 150,701,700 (GRCm39)	H1360R	probably damaging	Het
Rfc3	C	T	5: 151,573,444 (GRCm39)	V40I	probably benign	Het
Rims1	T	A	1: 22,577,590 (GRCm39)	T219S	probably damaging	Het
Rnf169	T	C	7: 99,576,338 (GRCm39)	R289G	possibly damaging	Het
Senp7	T	C	16: 56,004,512 (GRCm39)		silent	Het
Sfmbt2	A	T	2: 10,573,184 (GRCm39)	I571F	probably damaging	Het
Slc11a2	C	A	15: 100,301,068 (GRCm39)	K328N	probably benign	Het
Slc25a10	A	G	11: 120,387,202 (GRCm39)		probably benign	Het
Slc38a8	T	C	8: 120,207,488 (GRCm39)	*433W	probably null	Het
Slco1a5	A	C	6: 142,183,320 (GRCm39)		probably null	Het
Smc6	T	A	12: 11,339,995 (GRCm39)	N434K	probably benign	Het
Syndig1	A	T	2: 149,741,428 (GRCm39)	I5F	possibly damaging	Het
Syt5	T	C	7: 4,546,018 (GRCm39)	Q124R	probably benign	Het
Taok3	A	C	5: 117,344,785 (GRCm39)	M171L	probably benign	Het
Tbrg1	T	C	9: 37,560,709 (GRCm39)	D389G	probably benign	Het
Tcaf2	G	A	6: 42,619,707 (GRCm39)	R107C	possibly damaging	Het
Tex14	C	A	11: 87,426,452 (GRCm39)	H1159Q	probably damaging	Het
Tmprss11d	T	A	5: 86,474,388 (GRCm39)	M190L	probably benign	Het
Ttn	T	A	2: 76,768,867 (GRCm39)	T2856S	probably damaging	Het
Ubr4	T	A	4: 139,171,998 (GRCm39)	M2997K	probably damaging	Het
Unc5c	C	T	3: 141,383,886 (GRCm39)	A88V	probably damaging	Het
Use1	T	C	8: 71,820,398 (GRCm39)		probably benign	Het
Vmn1r43	T	C	6: 89,847,354 (GRCm39)	N44S	probably damaging	Het
Vmn1r89	T	A	7: 12,954,146 (GRCm39)	V294D	possibly damaging	Het
Vmn2r11	A	T	5: 109,194,869 (GRCm39)	V819E	probably damaging	Het
Vmn2r120	T	A	17: 57,831,977 (GRCm39)	M271L	probably benign	Het
Vmn2r52	T	C	7: 9,905,059 (GRCm39)	Y260C	probably damaging	Het
Vmn2r67	T	A	7: 84,799,151 (GRCm39)	R519*	probably null	Het
Vmn2r69	T	A	7: 85,056,404 (GRCm39)	D578V	probably damaging	Het
Vmn2r85	T	C	10: 130,262,343 (GRCm39)	Y132C	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp318	T	A	17: 46,720,170 (GRCm39)		probably benign	Het
Zfp810	A	T	9: 22,194,467 (GRCm39)	S74T	probably benign	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
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'- TCTTCAGGTAGCGGTCAATGG -3'
(R):5'- TACAGGACCATGGATGTGCC -3'

Sequencing Primer
(F):5'- GTAGCGGTCAATGGTTATCAAC -3'
(R):5'- ATGTGCCTGGTGTCAACAC -3'

Posted On

2016-11-08