Mutagenetix > Incidental Mutation

Incidental Mutation 'R8520:P2rx1'

658603

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

067947-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72889929-72906026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72899779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 128 (D128V)

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: D128V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021141
Gene: ENSMUSG00000020787
AA Change: D128V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092938
AA Change: D128V

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000090614
Gene: ENSMUSG00000020787
AA Change: D128V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,423 (GRCm39)	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,644,968 (GRCm39)	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,735,346 (GRCm39)	I151T	possibly damaging	Het
Adam28	C	T	14: 68,879,532 (GRCm39)	G172D	probably damaging	Het
Adcy6	A	G	15: 98,502,041 (GRCm39)	V191A	probably benign	Het
Ankrd52	T	C	10: 128,225,359 (GRCm39)	L911P	probably damaging	Het
C5ar1	A	G	7: 15,982,076 (GRCm39)	S315P	probably damaging	Het
Cubn	A	G	2: 13,313,331 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,941,277 (GRCm39)	S276P	probably benign	Het
Dnah14	T	A	1: 181,481,203 (GRCm39)	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,712,508 (GRCm39)	G171R	probably damaging	Het
Dusp13b	C	A	14: 21,793,538 (GRCm39)	G208*	probably null	Het
Ebf3	A	C	7: 136,802,853 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,171,270 (GRCm39)		probably null	Het
Fbxo27	A	G	7: 28,392,767 (GRCm39)	D16G	probably benign	Het
G6pc3	A	G	11: 102,083,934 (GRCm39)	S187G	probably benign	Het
Gucy2d	G	A	7: 98,121,513 (GRCm39)	V995I	probably null	Het
Hmcn2	C	A	2: 31,244,726 (GRCm39)	P728T	probably damaging	Het
Il1r2	T	C	1: 40,144,499 (GRCm39)	L62P	probably damaging	Het
Ints7	T	C	1: 191,314,603 (GRCm39)	S63P	probably damaging	Het
Lyset	T	A	12: 102,710,431 (GRCm39)		probably null	Het
Mcf2l	C	A	8: 12,930,089 (GRCm39)	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,590,586 (GRCm39)	I109S	probably benign	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,490,734 (GRCm39)		probably null	Het
Nanog	A	T	6: 122,690,475 (GRCm39)	L268F	possibly damaging	Het
Or12j5	T	A	7: 140,084,315 (GRCm39)	D19V	probably benign	Het
Or14a259	A	T	7: 86,013,471 (GRCm39)	C25S	probably benign	Het
Otud4	T	A	8: 80,385,896 (GRCm39)	N256K	probably damaging	Het
Pappa	G	A	4: 65,254,001 (GRCm39)	V1552I	probably benign	Het
Pax8	A	T	2: 24,333,034 (GRCm39)	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,412,204 (GRCm39)	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,169 (GRCm39)	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,947,911 (GRCm39)	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,450,910 (GRCm39)	N217K	probably benign	Het
Slc2a13	T	A	15: 91,457,105 (GRCm39)	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,526,506 (GRCm39)	M9T	probably benign	Het
Sord	G	A	2: 122,087,423 (GRCm39)	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,890,792 (GRCm39)	Q892*	probably null	Het
Thsd7b	T	A	1: 129,849,157 (GRCm39)	D956E	probably benign	Het
Topbp1	T	A	9: 103,186,176 (GRCm39)		probably null	Het
Tst	T	C	15: 78,289,453 (GRCm39)	E194G	probably damaging	Het
Ttk	T	A	9: 83,739,380 (GRCm39)	S484T	possibly damaging	Het
U2surp	A	G	9: 95,384,607 (GRCm39)	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,388,714 (GRCm39)	A500T	probably benign	Het
Utrn	A	T	10: 12,545,930 (GRCm39)	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,718,615 (GRCm39)	Q656L	probably damaging	Het
Wdr7	A	G	18: 64,120,231 (GRCm39)	N1424S	probably benign	Het
Xkr9	A	G	1: 13,771,603 (GRCm39)	D373G	probably benign	Het
Zfp984	T	A	4: 147,840,668 (GRCm39)	Y61F	probably benign	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
R6285:P2rx1	UTSW	11	72,898,974 (GRCm39)	missense	probably benign	0.22
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
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'- TGGACACTGGGACTTGTGAG -3'
(R):5'- TTCCATCTCAGGGTAGGTGACAG -3'

Sequencing Primer
(F):5'- ACTTGTGAGCTGGGCAGAG -3'
(R):5'- CAGGCAGGATGAGAGTGGC -3'

Posted On

2021-01-18