Mutagenetix > Incidental Mutation

Incidental Mutation 'R6108:P2ry1'

485591

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

044258-MU

Accession Numbers

Essential gene?

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

Stock #

R6108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60910216-60916403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60911596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 245 (I245N)

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: I245N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029331
Gene: ENSMUSG00000027765
AA Change: I245N

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: I245N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142006
Gene: ENSMUSG00000027765
AA Change: I245N

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: I245N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141371
Gene: ENSMUSG00000027765
AA Change: I245N

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,539,814 (GRCm39)	F5702L	probably damaging	Het
Aptx	G	A	4: 40,694,986 (GRCm39)	Q117*	probably null	Het
Axin1	T	A	17: 26,362,214 (GRCm39)	M186K	probably damaging	Het
Btbd2	A	T	10: 80,481,365 (GRCm39)	L249Q	probably damaging	Het
Caprin1	C	T	2: 103,606,362 (GRCm39)	V293I	possibly damaging	Het
Ccdc136	C	A	6: 29,412,449 (GRCm39)	H334Q	probably benign	Het
Ccdc180	A	G	4: 45,911,389 (GRCm39)	N568S	possibly damaging	Het
Cenpf	A	T	1: 189,394,210 (GRCm39)	F515L	probably benign	Het
Chrm2	T	A	6: 36,500,230 (GRCm39)	V29E	probably damaging	Het
Cnot1	A	G	8: 96,457,048 (GRCm39)	L1956P	probably damaging	Het
Cyp2d22	T	C	15: 82,256,106 (GRCm39)	K176R	possibly damaging	Het
Dnah7a	A	T	1: 53,496,004 (GRCm39)	I3151N	probably damaging	Het
Dsg1a	T	A	18: 20,473,304 (GRCm39)	D792E	probably benign	Het
Fam167b	A	T	4: 129,472,101 (GRCm39)	L23*	probably null	Het
Fermt3	C	A	19: 6,991,782 (GRCm39)	R143L	probably benign	Het
Gfm2	A	G	13: 97,285,930 (GRCm39)	I140V	possibly damaging	Het
Gna14	A	G	19: 16,580,707 (GRCm39)	T182A	probably damaging	Het
Hmcn1	A	G	1: 150,506,978 (GRCm39)	V3738A	possibly damaging	Het
Hspa4	C	T	11: 53,152,539 (GRCm39)	G810D	probably damaging	Het
Igf2bp3	A	G	6: 49,094,308 (GRCm39)	I154T	probably damaging	Het
Il1rap	G	A	16: 26,541,457 (GRCm39)	S566N	probably damaging	Het
Kcnb1	G	A	2: 166,947,060 (GRCm39)	T596M	probably damaging	Het
Kcnn1	A	C	8: 71,307,800 (GRCm39)	S81A	probably benign	Het
Lmod1	G	A	1: 135,291,849 (GRCm39)	G235R	probably benign	Het
Mei1	A	T	15: 81,959,389 (GRCm39)	R185S	possibly damaging	Het
Mmrn1	G	A	6: 60,952,960 (GRCm39)	V414M	possibly damaging	Het
Mon2	C	A	10: 122,868,600 (GRCm39)	M484I	probably benign	Het
Nae1	A	T	8: 105,254,034 (GRCm39)	D99E	probably benign	Het
Nsun7	T	A	5: 66,453,142 (GRCm39)	I619N	probably damaging	Het
Nudt12	C	A	17: 59,314,744 (GRCm39)	R280L	probably damaging	Het
Or1l4	T	C	2: 37,091,778 (GRCm39)	V175A	possibly damaging	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Plek	T	A	11: 16,940,058 (GRCm39)	Y217F	probably damaging	Het
Plpp1	A	T	13: 113,003,399 (GRCm39)	I208F	possibly damaging	Het
Ptges3-ps	C	T	6: 85,821,537 (GRCm39)		noncoding transcript	Het
Ptprf	A	G	4: 118,080,453 (GRCm39)	L1267P	probably benign	Het
Ptprz1	A	T	6: 23,045,658 (GRCm39)	S2143C	probably damaging	Het
Scn9a	T	C	2: 66,314,393 (GRCm39)	D1764G	probably damaging	Het
Serpinb5	T	A	1: 106,809,458 (GRCm39)	L288Q	probably damaging	Het
Slc6a20b	T	G	9: 123,425,251 (GRCm39)	M539L	probably benign	Het
Slfnl1	A	G	4: 120,390,558 (GRCm39)	T70A	probably benign	Het
Smtn	C	A	11: 3,479,608 (GRCm39)	L486F	probably damaging	Het
Sptbn2	G	A	19: 4,781,420 (GRCm39)		probably null	Het
Tas2r144	C	A	6: 42,192,691 (GRCm39)	L144I	possibly damaging	Het
Tjp3	C	T	10: 81,116,980 (GRCm39)	R183K	probably benign	Het
Tnip3	A	G	6: 65,502,395 (GRCm39)		probably null	Het
Tspan12	T	A	6: 21,772,770 (GRCm39)	M212L	probably benign	Het
Ttn	T	A	2: 76,708,385 (GRCm39)		probably benign	Het
Vmn1r71	T	C	7: 10,482,545 (GRCm39)	M48V	probably benign	Het
Vmn2r10	A	G	5: 109,143,667 (GRCm39)	F761S	probably damaging	Het
Vmn2r106	G	A	17: 20,488,638 (GRCm39)	P587L	probably benign	Het
Wdr72	A	G	9: 74,058,950 (GRCm39)	T348A	probably damaging	Het
Xrn1	A	T	9: 95,856,480 (GRCm39)	L333F	possibly damaging	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
R3418:P2ry1	UTSW	3	60,911,133 (GRCm39)	missense	probably damaging	0.99
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
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'- TCTTCTACTCTGGCACTGGGAC -3'
(R):5'- GTCCACACAGCTGTTGAGAC -3'

Sequencing Primer
(F):5'- CTGGGACTCGGAAAAACAAAACTGTC -3'
(R):5'- CACAGCTGTTGAGACTTGCTAGAC -3'

Posted On

2017-08-16