Mutagenetix > Incidental Mutation

Incidental Mutation 'R2108:P2ry12'

232232

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

040112-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R2108 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59123693-59170292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59124774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 300 (D300E)

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

probably damaging
Transcript: ENSMUST00000050360
AA Change: D300E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051353
Gene: ENSMUSG00000036353
AA Change: D300E

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 damaging
Transcript: ENSMUST00000170388
AA Change: D300E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126819
Gene: ENSMUSG00000036353
AA Change: D300E

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 damaging
Transcript: ENSMUST00000196583
AA Change: D300E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143036
Gene: ENSMUSG00000036353
AA Change: D300E

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 damaging
Transcript: ENSMUST00000199609
AA Change: D300E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143521
Gene: ENSMUSG00000036353
AA Change: D300E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd10	A	G	16: 45,552,303 (GRCm39)	M190T	probably benign	Het
Abhd5	A	G	9: 122,207,005 (GRCm39)	Y250C	probably damaging	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Adamtsl2	A	G	2: 26,985,570 (GRCm39)	M485V	probably benign	Het
Adamtsl4	G	T	3: 95,588,357 (GRCm39)	P577H	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Apc	T	C	18: 34,402,282 (GRCm39)	Y141H	probably damaging	Het
Arsi	A	T	18: 61,049,443 (GRCm39)	T109S	possibly damaging	Het
Asb3	G	A	11: 31,031,355 (GRCm39)		probably null	Het
Atm	T	C	9: 53,355,297 (GRCm39)	D2899G	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Bub1	T	C	2: 127,661,255 (GRCm39)	K279E	probably damaging	Het
C3	A	T	17: 57,530,974 (GRCm39)		probably null	Het
Cabcoco1	T	C	10: 68,267,153 (GRCm39)	K185E	probably benign	Het
Cadm2	A	T	16: 66,528,357 (GRCm39)	I326N	probably benign	Het
Ccr3	T	C	9: 123,829,336 (GRCm39)	S224P	possibly damaging	Het
Cdhr4	A	G	9: 107,874,843 (GRCm39)	T638A	probably damaging	Het
Cfap46	T	C	7: 139,263,677 (GRCm39)	I4V	probably benign	Het
Csf2rb2	A	T	15: 78,176,744 (GRCm39)	V216E	probably damaging	Het
Csmd3	A	T	15: 47,868,257 (GRCm39)	D754E	possibly damaging	Het
Dnaaf1	T	C	8: 120,309,471 (GRCm39)		probably null	Het
Dnah11	A	C	12: 117,984,088 (GRCm39)	Y2466D	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
E2f7	T	C	10: 110,616,763 (GRCm39)	Y668H	probably benign	Het
Ehmt1	A	T	2: 24,727,630 (GRCm39)	S735T	probably damaging	Het
Eomes	T	C	9: 118,307,920 (GRCm39)	F65L	probably benign	Het
Ercc6l2	T	C	13: 64,019,802 (GRCm39)		probably benign	Het
Fbrsl1	A	T	5: 110,526,300 (GRCm39)	L439Q	probably damaging	Het
Fyco1	C	T	9: 123,626,581 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,291,950 (GRCm39)	T229A	probably benign	Het
Gm7735	G	A	16: 88,966,433 (GRCm39)	G19D	unknown	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpr6	T	A	10: 40,946,649 (GRCm39)	Y311F	possibly damaging	Het
Gprc6a	A	T	10: 51,491,304 (GRCm39)	V744E	probably damaging	Het
Grin3a	C	T	4: 49,665,510 (GRCm39)	D1042N	possibly damaging	Het
Gstm3	A	G	3: 107,873,450 (GRCm39)	C174R	probably damaging	Het
Hectd4	A	G	5: 121,471,487 (GRCm39)	E2670G	possibly damaging	Het
Hsd3b6	A	T	3: 98,713,503 (GRCm39)	Y265*	probably null	Het
Hus1	T	A	11: 8,961,110 (GRCm39)	M1L	probably null	Het
Idi2l	G	A	13: 8,991,764 (GRCm39)	P221S	possibly damaging	Het
Ifi213	T	G	1: 173,396,668 (GRCm39)		probably null	Het
Igf2r	A	C	17: 12,917,138 (GRCm39)	N1587K	probably benign	Het
Ints1	A	T	5: 139,753,505 (GRCm39)	V709E	probably damaging	Het
Ints8	C	A	4: 11,235,552 (GRCm39)	R359L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrp1b	C	T	2: 41,000,769 (GRCm39)	E2152K	probably damaging	Het
Lrp2	A	T	2: 69,336,968 (GRCm39)	V1268D	possibly damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nfxl1	C	A	5: 72,671,675 (GRCm39)		probably null	Het
Nrp2	T	A	1: 62,783,436 (GRCm39)	I179N	probably damaging	Het
Nup153	A	G	13: 46,846,986 (GRCm39)		probably null	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or2g7	G	T	17: 38,378,746 (GRCm39)	R228L	possibly damaging	Het
Or5p54	A	T	7: 107,554,709 (GRCm39)	H287L	probably benign	Het
Or6c6c	A	T	10: 129,541,490 (GRCm39)	I248L	probably benign	Het
Or8g27	A	T	9: 39,129,318 (GRCm39)	I222F	probably damaging	Het
Pkhd1	C	A	1: 20,623,798 (GRCm39)	G766*	probably null	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Prkcq	A	T	2: 11,237,380 (GRCm39)	Y53F	probably damaging	Het
Psg18	T	C	7: 18,084,799 (GRCm39)	E99G	probably damaging	Het
Ptprz1	T	A	6: 23,033,476 (GRCm39)	H1921Q	probably damaging	Het
Rcc1l	A	G	5: 134,184,629 (GRCm39)	V391A	probably benign	Het
Sdr42e1	C	T	8: 118,391,763 (GRCm39)	V11I	probably damaging	Het
Slc12a3	C	A	8: 95,067,158 (GRCm39)	N404K	probably damaging	Het
Slc38a4	T	C	15: 96,906,878 (GRCm39)	M287V	probably benign	Het
Slc6a8	A	T	X: 72,720,492 (GRCm39)	I96F	possibly damaging	Het
Smyd2	A	G	1: 189,629,623 (GRCm39)	S136P	probably damaging	Het
Sox11	A	G	12: 27,391,702 (GRCm39)	Y236H	probably damaging	Het
Tbc1d2	G	A	4: 46,637,652 (GRCm39)	P198L	possibly damaging	Het
Tcof1	G	T	18: 60,968,845 (GRCm39)	A256E	probably damaging	Het
Tenm4	A	G	7: 96,555,497 (GRCm39)	Y2726C	probably damaging	Het
Tnfsf14	T	A	17: 57,497,867 (GRCm39)	R122W	probably damaging	Het
Tril	T	C	6: 53,796,068 (GRCm39)	T385A	probably damaging	Het
Trrap	A	G	5: 144,762,684 (GRCm39)	T2386A	probably benign	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Uba7	A	G	9: 107,856,487 (GRCm39)	M595V	probably benign	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vmn2r69	T	C	7: 85,059,404 (GRCm39)	I502V	probably benign	Het
Vps13d	C	A	4: 144,801,617 (GRCm39)	G419C	probably damaging	Het
Zbtb25	A	T	12: 76,396,880 (GRCm39)	M114K	probably benign	Het
Zcchc4	A	G	5: 52,953,474 (GRCm39)	Y161C	probably damaging	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	Het
Zfp326	A	G	5: 106,062,646 (GRCm39)		probably benign	Het
Zfp395	T	A	14: 65,630,565 (GRCm39)	S372T	probably benign	Het
Zfp423	T	A	8: 88,507,806 (GRCm39)	E825V	possibly damaging	Het
Zfp445	A	T	9: 122,681,305 (GRCm39)	Y879N	probably benign	Het
Zfp451	A	G	1: 33,818,248 (GRCm39)	I77T	possibly damaging	Het
Zfp85	A	T	13: 67,897,003 (GRCm39)	S356R	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
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'- GTCTGGATATTAAAGACTGAAGCAGC -3'
(R):5'- CAAGGGGTTCAGCCAAAGTTC -3'

Sequencing Primer
(F):5'- TGAAGCAGCCCCTTGGGTAATG -3'
(R):5'- GGGTTCAGCCAAAGTTCCCAAG -3'

Posted On

2014-09-18