Mutagenetix > Incidental Mutation

Incidental Mutation 'R3418:P2ry1'

266883

Institutional Source

Beutler Lab

Gene Symbol

P2ry1

Ensembl Gene

ENSMUSG00000027765

Gene Name

purinergic receptor P2Y, G-protein coupled 1

Synonyms

P2Y1, P2y1r, P2Y1 receptor

MMRRC Submission

040636-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R3418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60910216-60916403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60911133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 91 (F91L)

Ref Sequence

ENSEMBL: ENSMUSP00000141371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029331] [ENSMUST00000193201] [ENSMUST00000193943]

AlphaFold

P49650

Predicted Effect

probably damaging
Transcript: ENSMUST00000029331
AA Change: F91L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029331
Gene: ENSMUSG00000027765
AA Change: F91L

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:7tm_1	68	324	4.8e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193201
AA Change: F91L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142006
Gene: ENSMUSG00000027765
AA Change: F91L

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:7tm_1	68	324	7.2e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193943
AA Change: F91L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141371
Gene: ENSMUSG00000027765
AA Change: F91L

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:7tm_1	68	324	7.2e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194809

Meta Mutation Damage Score

0.2707

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (61/62)

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 functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for either one of two independently generated knock-out alleles exhibit decreased platelet aggregation, increased bleeding time, and resistance to induced thromboembolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Acaa1a	A	G	9: 119,178,556 (GRCm39)		probably null	Het
Agbl5	T	C	5: 31,062,067 (GRCm39)	S756P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Cdc16	C	T	8: 13,819,489 (GRCm39)	Q362*	probably null	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Cep170b	C	T	12: 112,704,902 (GRCm39)	Q887*	probably null	Het
Chd9	T	C	8: 91,763,219 (GRCm39)	I2348T	probably damaging	Het
Clec9a	A	G	6: 129,398,001 (GRCm39)		probably benign	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
D130040H23Rik	T	C	8: 69,755,579 (GRCm39)	I328T	probably benign	Het
Dido1	G	T	2: 180,302,728 (GRCm39)	D1725E	possibly damaging	Het
Dnajb14	A	G	3: 137,598,631 (GRCm39)	D123G	probably null	Het
Dock2	A	T	11: 34,580,587 (GRCm39)	M661K	probably damaging	Het
Esam	C	T	9: 37,448,426 (GRCm39)		probably null	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fat2	G	T	11: 55,169,824 (GRCm39)	H2978Q	probably benign	Het
Fbn1	T	C	2: 125,162,846 (GRCm39)	T2147A	possibly damaging	Het
Fdft1	T	C	14: 63,394,070 (GRCm39)	T214A	probably damaging	Het
Fhl5	T	C	4: 25,211,252 (GRCm39)	S147G	probably benign	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gcat	A	T	15: 78,926,297 (GRCm39)	T56S	possibly damaging	Het
Gemin5	A	T	11: 58,047,454 (GRCm39)		probably null	Het
Gm4736	A	T	6: 132,092,640 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,820,108 (GRCm39)	N368S	probably benign	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Htr1f	G	A	16: 64,746,260 (GRCm39)	P344L	probably damaging	Het
Ighv7-3	T	A	12: 114,116,919 (GRCm39)	Y81F	probably damaging	Het
Jakmip3	C	A	7: 138,619,474 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Khdrbs3	T	C	15: 68,921,224 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Myom2	T	G	8: 15,135,294 (GRCm39)	I499S	probably benign	Het
Nos2	T	A	11: 78,850,521 (GRCm39)	F1126L	possibly damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pou6f1	C	A	15: 100,478,805 (GRCm39)	V368L	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rbm45	A	G	2: 76,209,362 (GRCm39)	E392G	probably damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Rnf222	G	T	11: 68,783,982 (GRCm39)	R183L	probably damaging	Het
Robo1	C	T	16: 72,832,805 (GRCm39)	T1526I	probably benign	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Slc13a2	A	G	11: 78,291,666 (GRCm39)	F329S	probably benign	Het
Smc2	T	C	4: 52,476,850 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,446 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tgfbr2	T	C	9: 115,958,901 (GRCm39)	Y146C	probably damaging	Het
Tnfrsf11a	A	G	1: 105,737,130 (GRCm39)	D79G	possibly damaging	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Ubn1	A	G	16: 4,892,243 (GRCm39)		probably benign	Het
Ubp1	T	C	9: 113,780,754 (GRCm39)		probably null	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	Het

Other mutations in P2ry1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02324:P2ry1	APN	3	60,911,199 (GRCm39)	missense	possibly damaging	0.83
IGL03008:P2ry1	APN	3	60,910,947 (GRCm39)	missense	probably benign	0.01
IGL03083:P2ry1	APN	3	60,911,736 (GRCm39)	missense	probably benign	0.21
IGL03238:P2ry1	APN	3	60,911,916 (GRCm39)	missense	probably damaging	0.97
R0255:P2ry1	UTSW	3	60,910,951 (GRCm39)	missense	probably benign
R2078:P2ry1	UTSW	3	60,911,118 (GRCm39)	missense	probably damaging	0.97
R2325:P2ry1	UTSW	3	60,910,999 (GRCm39)	missense	probably damaging	1.00
R2508:P2ry1	UTSW	3	60,910,900 (GRCm39)	missense	probably damaging	1.00
R3419:P2ry1	UTSW	3	60,911,133 (GRCm39)	missense	probably damaging	0.99
R3848:P2ry1	UTSW	3	60,910,880 (GRCm39)	nonsense	probably null
R4716:P2ry1	UTSW	3	60,910,893 (GRCm39)	missense	probably damaging	1.00
R4728:P2ry1	UTSW	3	60,911,641 (GRCm39)	missense	probably damaging	1.00
R4756:P2ry1	UTSW	3	60,911,898 (GRCm39)	missense	probably benign	0.00
R4797:P2ry1	UTSW	3	60,910,881 (GRCm39)	missense	probably benign	0.01
R5550:P2ry1	UTSW	3	60,911,232 (GRCm39)	missense	probably damaging	1.00
R6108:P2ry1	UTSW	3	60,911,596 (GRCm39)	missense	probably damaging	0.99
R6278:P2ry1	UTSW	3	60,911,215 (GRCm39)	missense	possibly damaging	0.85
R6816:P2ry1	UTSW	3	60,911,253 (GRCm39)	missense	probably benign	0.40
R7345:P2ry1	UTSW	3	60,911,095 (GRCm39)	missense	possibly damaging	0.62
R7473:P2ry1	UTSW	3	60,911,509 (GRCm39)	missense	probably damaging	0.97
R8029:P2ry1	UTSW	3	60,910,943 (GRCm39)	missense	possibly damaging	0.86
R9353:P2ry1	UTSW	3	60,911,916 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACAGTACTGTCGCCTCAAC -3'
(R):5'- CAGAGACTTGAGAGGGTACACC -3'

Sequencing Primer
(F):5'- AGTACTGTCGCCTCAACTGCAG -3'
(R):5'- ACGCCACTGTACCTGTGTG -3'

Posted On

2015-02-18