Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:P2ry12'

592445

Institutional Source

Beutler Lab

Gene Symbol

P2ry12

Ensembl Gene

ENSMUSG00000036353

Gene Name

purinergic receptor P2Y, G-protein coupled 12

Synonyms

2900079B22Rik, P2Y12, 4921504D23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59216272-59262871 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59217757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 166 (M166L)

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

possibly damaging
Transcript: ENSMUST00000050360
AA Change: M166L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051353
Gene: ENSMUSG00000036353
AA Change: M166L

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: M166L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126819
Gene: ENSMUSG00000036353
AA Change: M166L

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: M166L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143036
Gene: ENSMUSG00000036353
AA Change: M166L

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: M166L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143521
Gene: ENSMUSG00000036353
AA Change: M166L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam6a	G	A	12: 113,544,576	G190S	probably benign	Het
Adnp	G	A	2: 168,183,447	R643*	probably null	Het
Akap6	A	G	12: 52,886,850	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,508,111	A480E	probably benign	Het
Ccdc175	T	A	12: 72,102,047	Q779L	possibly damaging	Het
D430042O09Rik	A	G	7: 125,850,377	D897G	probably benign	Het
Dnah7b	T	G	1: 46,234,164	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,344	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,684,087	N255K	probably benign	Het
Efhc1	G	T	1: 20,967,369	G257W	probably damaging	Het
Fars2	C	A	13: 36,205,043	L172I	probably benign	Het
Fat4	T	C	3: 38,891,697	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,428,030	N253Y	probably benign	Het
Foxd3	G	T	4: 99,656,914	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170	D120E	possibly damaging	Het
Ighv10-3	A	G	12: 114,523,679	C41R	probably damaging	Het
Kcnab3	A	G	11: 69,326,727	S16G	probably benign	Het
Keg1	T	G	19: 12,716,045	V154G	probably benign	Het
Lrrc45	G	A	11: 120,720,322	R602H	probably damaging	Het
Ltbp1	A	G	17: 75,291,297	D591G	possibly damaging	Het
Mmp10	T	A	9: 7,503,549	V140D	probably damaging	Het
Nat8f2	A	T	6: 85,868,212	M56K	probably benign	Het
Nckipsd	T	C	9: 108,814,954	F525L	probably damaging	Het
Olfr1328	A	G	4: 118,934,150	S233P	probably damaging	Het
Olfr1406	T	A	1: 173,183,553	K294*	probably null	Het
Olfr804	G	T	10: 129,705,286	S136I	possibly damaging	Het
Palm3	T	C	8: 84,029,445	S529P	possibly damaging	Het
Pdilt	A	T	7: 119,494,997	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,720,362	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,962,708	V166I		Het
Plxdc2	C	T	2: 16,712,083	S377L	probably benign	Het
Rc3h2	A	T	2: 37,405,332	V224E	possibly damaging	Het
Stk32c	T	A	7: 139,105,304	D428V	possibly damaging	Het
Ttn	T	C	2: 76,814,607	D12968G	probably damaging	Het
Tulp2	G	T	7: 45,521,027	V457F	possibly damaging	Het
Vcan	A	T	13: 89,691,789	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,129,455	Y118H	probably benign	Het
Zfat	A	C	15: 68,224,844	V40G	possibly damaging	Het

Other mutations in P2ry12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:P2ry12	APN	3	59217882	missense	probably damaging	1.00
IGL03075:P2ry12	APN	3	59218158	missense	probably damaging	1.00
IGL02796:P2ry12	UTSW	3	59217881	missense	probably damaging	1.00
R0707:P2ry12	UTSW	3	59217487	missense	probably damaging	1.00
R1274:P2ry12	UTSW	3	59217220	missense	possibly damaging	0.83
R1321:P2ry12	UTSW	3	59217225	missense	possibly damaging	0.94
R1513:P2ry12	UTSW	3	59218077	missense	probably damaging	1.00
R1781:P2ry12	UTSW	3	59217778	missense	probably benign	0.04
R2108:P2ry12	UTSW	3	59217353	missense	probably damaging	1.00
R3430:P2ry12	UTSW	3	59218027	missense	probably damaging	1.00
R4119:P2ry12	UTSW	3	59217841	missense	probably benign	0.00
R4499:P2ry12	UTSW	3	59217657	missense	probably damaging	0.97
R4501:P2ry12	UTSW	3	59217657	missense	probably damaging	0.97
R4670:P2ry12	UTSW	3	59217904	splice site	probably null
R4823:P2ry12	UTSW	3	59217897	missense	probably benign	0.00
R5643:P2ry12	UTSW	3	59218095	missense	possibly damaging	0.96
R5644:P2ry12	UTSW	3	59218095	missense	possibly damaging	0.96
R6246:P2ry12	UTSW	3	59217529	missense	probably benign	0.00
R6261:P2ry12	UTSW	3	59217907	missense	probably null	0.87
R6473:P2ry12	UTSW	3	59217511	missense	probably benign	0.06
R6484:P2ry12	UTSW	3	59217333	missense	probably damaging	1.00
R6654:P2ry12	UTSW	3	59218020	missense	probably damaging	1.00
R7151:P2ry12	UTSW	3	59217706	missense	probably benign	0.01
R7446:P2ry12	UTSW	3	59217211	makesense	probably null
R7984:P2ry12	UTSW	3	59217601	missense	probably damaging	1.00
R8164:P2ry12	UTSW	3	59217616	missense	possibly damaging	0.89
R8905:P2ry12	UTSW	3	59217576	missense	probably damaging	1.00
R9042:P2ry12	UTSW	3	59218035	missense	probably damaging	1.00
R9625:P2ry12	UTSW	3	59218075	missense	possibly damaging	0.93
R9651:P2ry12	UTSW	3	59227510	intron	probably benign
RF018:P2ry12	UTSW	3	59217412	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- CCTTGTTCTGACATAAGACCGATAG -3'
(R):5'- CTCTGAGAACCTTGGTGTGC -3'

Sequencing Primer
(F):5'- GACATAAGACCGATAGAGTTCTTTGG -3'
(R):5'- GGTGTGCCAAGTTACTTCAGTCAC -3'

Posted On

2019-11-12