Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:P2rx1'

508194

Institutional Source

Beutler Lab

Gene Symbol

P2rx1

Ensembl Gene

ENSMUSG00000020787

Gene Name

purinergic receptor P2X, ligand-gated ion channel, 1

Synonyms

RP-2, P2x, Pdcd3, P2X1 receptor

MMRRC Submission

044455-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72889929-72906026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72898974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 62 (I62V)

Ref Sequence

ENSEMBL: ENSMUSP00000090614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021141] [ENSMUST00000092938]

AlphaFold

P51576

Predicted Effect

probably benign
Transcript: ENSMUST00000021141
AA Change: I62V

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021141
Gene: ENSMUSG00000020787
AA Change: I62V

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	14	376	1.2e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092938
AA Change: I62V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090614
Gene: ENSMUSG00000020787
AA Change: I62V

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	14	182	1.1e-71	PFAM
Pfam:P2X_receptor	171	355	2.1e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148964

Meta Mutation Damage Score

0.0767

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,324 (GRCm39)	M370L	probably benign	Het
Aimp1	A	G	3: 132,373,265 (GRCm39)	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,824,950 (GRCm39)	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,135,622 (GRCm39)	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,520,157 (GRCm39)	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,598,772 (GRCm39)	N107S	possibly damaging	Het
Cdc7	G	A	5: 107,130,925 (GRCm39)	A428T	probably benign	Het
Cep290	A	G	10: 100,359,191 (GRCm39)	T974A	probably benign	Het
Cep350	A	T	1: 155,829,120 (GRCm39)	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,241,001 (GRCm39)	D8V	probably damaging	Het
Col6a4	T	C	9: 105,952,185 (GRCm39)	D571G	probably damaging	Het
Cpe	A	C	8: 65,070,645 (GRCm39)	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,444,231 (GRCm39)		probably null	Het
D5Ertd579e	A	C	5: 36,772,921 (GRCm39)	C491W	probably damaging	Het
Dek	A	G	13: 47,252,856 (GRCm39)	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,742,453 (GRCm39)	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,302,940 (GRCm39)	A1655T	probably benign	Het
Eva1b	A	G	4: 126,043,278 (GRCm39)	D106G	probably damaging	Het
Evc2	G	T	5: 37,581,923 (GRCm39)	S1189I	possibly damaging	Het
Faap100	A	T	11: 120,267,558 (GRCm39)	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,386,234 (GRCm39)	M249L	probably benign	Het
Gbp10	A	T	5: 105,366,326 (GRCm39)	L526Q	probably damaging	Het
Gm19402	A	C	10: 77,526,354 (GRCm39)		probably benign	Het
Gm2244	A	G	14: 19,590,865 (GRCm39)	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,870,666 (GRCm39)	N98K	probably damaging	Het
Golga4	C	T	9: 118,387,695 (GRCm39)	R616*	probably null	Het
Gpank1	T	A	17: 35,343,266 (GRCm39)	S226T	probably damaging	Het
Hipk3	T	C	2: 104,301,770 (GRCm39)	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Igf1r	T	G	7: 67,653,885 (GRCm39)	I141S	possibly damaging	Het
Jak2	T	A	19: 29,273,059 (GRCm39)	F628I	probably benign	Het
Kcp	C	A	6: 29,502,364 (GRCm39)	V227L	probably benign	Het
Knl1	T	G	2: 118,902,422 (GRCm39)	C1374W	probably damaging	Het
Larp6	A	T	9: 60,645,043 (GRCm39)	R394S	probably benign	Het
Lilra5	G	A	7: 4,245,114 (GRCm39)	G253R	probably damaging	Het
Map3k4	A	G	17: 12,482,945 (GRCm39)	S591P	probably damaging	Het
Mdfic2	T	C	6: 98,215,134 (GRCm39)	D163G	probably damaging	Het
Minar2	A	G	18: 59,205,296 (GRCm39)	K28R	probably benign	Het
Mrpl16	T	A	19: 11,750,332 (GRCm39)	I72K	probably damaging	Het
Nol11	C	G	11: 107,071,860 (GRCm39)	R244S	probably benign	Het
Nr2f1	T	C	13: 78,343,782 (GRCm39)	T161A	probably benign	Het
Nrdc	G	T	4: 108,895,203 (GRCm39)	V476F	probably damaging	Het
Or10j7	G	T	1: 173,011,477 (GRCm39)	H175N	probably damaging	Het
Or10z1	A	T	1: 174,078,395 (GRCm39)	S33T	possibly damaging	Het
Or13a22	T	A	7: 140,072,626 (GRCm39)	L25Q	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,777,843 (GRCm39)	H56L	probably benign	Het
Pcdhgc5	A	T	18: 37,953,674 (GRCm39)	Y316F	probably benign	Het
Pecam1	T	C	11: 106,576,065 (GRCm39)	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,635,299 (GRCm39)	Y87*	probably null	Het
Poldip2	A	G	11: 78,408,458 (GRCm39)		probably null	Het
Ppp2r5b	T	A	19: 6,280,566 (GRCm39)	Q304L	probably benign	Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Psg26	A	G	7: 18,216,753 (GRCm39)	F29L	probably benign	Het
Ptk6	A	T	2: 180,838,886 (GRCm39)	L289Q	probably null	Het
Ptprt	A	T	2: 161,743,417 (GRCm39)	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,808 (GRCm39)	F406S	probably damaging	Het
Rspo3	A	G	10: 29,375,926 (GRCm39)		probably null	Het
Septin8	G	T	11: 53,425,594 (GRCm39)		probably null	Het
Sirt2	A	C	7: 28,487,471 (GRCm39)	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,438,161 (GRCm39)	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,093,418 (GRCm39)	Q327*	probably null	Het
Susd3	T	A	13: 49,390,997 (GRCm39)	S98C	probably damaging	Het
Tada2b	G	A	5: 36,634,186 (GRCm39)	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045 (GRCm39)	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,380,740 (GRCm39)	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,231,297 (GRCm39)		probably null	Het
Vinac1	T	G	2: 128,879,719 (GRCm39)	T736P	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,406 (GRCm39)	T727A	probably benign	Het
Wdr48	C	T	9: 119,749,676 (GRCm39)	T531M	probably damaging	Het

Other mutations in P2rx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:P2rx1	APN	11	72,903,826 (GRCm39)	critical splice donor site	probably null
IGL01109:P2rx1	APN	11	72,899,041 (GRCm39)	missense	probably damaging	0.99
IGL02466:P2rx1	APN	11	72,900,410 (GRCm39)	critical splice acceptor site	probably null
IGL02524:P2rx1	APN	11	72,900,474 (GRCm39)	missense	probably damaging	1.00
IGL02536:P2rx1	APN	11	72,903,300 (GRCm39)	missense	probably damaging	1.00
PIT4382001:P2rx1	UTSW	11	72,900,026 (GRCm39)	missense	probably benign	0.09
R0479:P2rx1	UTSW	11	72,903,787 (GRCm39)	missense	probably damaging	1.00
R1238:P2rx1	UTSW	11	72,903,784 (GRCm39)	missense	probably damaging	1.00
R2156:P2rx1	UTSW	11	72,904,939 (GRCm39)	missense	probably benign	0.15
R4016:P2rx1	UTSW	11	72,900,799 (GRCm39)	missense	probably damaging	1.00
R5345:P2rx1	UTSW	11	72,900,056 (GRCm39)	missense	probably damaging	1.00
R5440:P2rx1	UTSW	11	72,899,329 (GRCm39)	missense	probably benign
R6172:P2rx1	UTSW	11	72,900,856 (GRCm39)	missense	probably damaging	0.99
R6348:P2rx1	UTSW	11	72,890,148 (GRCm39)	missense	probably benign
R7793:P2rx1	UTSW	11	72,900,079 (GRCm39)	nonsense	probably null
R8402:P2rx1	UTSW	11	72,904,715 (GRCm39)	missense	probably damaging	1.00
R8520:P2rx1	UTSW	11	72,899,779 (GRCm39)	missense	probably benign	0.10
R8723:P2rx1	UTSW	11	72,899,756 (GRCm39)	missense	probably benign	0.05
R8857:P2rx1	UTSW	11	72,903,197 (GRCm39)	intron	probably benign
R8903:P2rx1	UTSW	11	72,900,821 (GRCm39)	missense	probably benign	0.03
R8965:P2rx1	UTSW	11	72,900,051 (GRCm39)	missense	probably benign	0.00
R9007:P2rx1	UTSW	11	72,900,059 (GRCm39)	missense	probably damaging	0.96
Z1177:P2rx1	UTSW	11	72,904,725 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACTTGCGAACCAAAGAAATTCAG -3'
(R):5'- AGTCGCACAGTAAGGCAGAC -3'

Sequencing Primer
(F):5'- CGAACCAAAGAAATTCAGAAAGTATC -3'
(R):5'- ACTGAGGCCCAGAGAGC -3'

Posted On

2018-03-15