Mutagenetix > Incidental Mutation

Incidental Mutation 'R2156:P2rx1'

234842

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

040159-MU

Accession Numbers

Essential gene?

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

Stock #

R2156 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72889929-72906026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72904939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 369 (M369T)

Ref Sequence

ENSEMBL: ENSMUSP00000090614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021141] [ENSMUST00000092937] [ENSMUST00000092938]

AlphaFold

P51576

Predicted Effect

probably benign
Transcript: ENSMUST00000021141
AA Change: M396T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021141
Gene: ENSMUSG00000020787
AA Change: M396T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092937

SMART Domains

Protein: ENSMUSP00000090613
Gene: ENSMUSG00000020785

Domain	Start	End	E-Value	Type
S_TKc	128	409	7.77e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000092938
AA Change: M369T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000090614
Gene: ENSMUSG00000020787
AA Change: M369T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180695

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,313,134 (GRCm39)		probably null	Het
Acaa2	T	C	18: 74,926,476 (GRCm39)		probably null	Het
Adam7	T	C	14: 68,748,792 (GRCm39)	Q485R	probably benign	Het
Adcy4	T	G	14: 56,006,627 (GRCm39)	T1069P	probably benign	Het
Arsj	T	C	3: 126,232,337 (GRCm39)	L361P	probably damaging	Het
Birc2	A	C	9: 7,826,939 (GRCm39)	L349R	probably damaging	Het
C1qa	T	C	4: 136,623,727 (GRCm39)	Y159C	probably damaging	Het
Cdh13	A	G	8: 119,963,703 (GRCm39)	K428E	probably damaging	Het
Cenpe	T	C	3: 134,953,235 (GRCm39)	M1563T	probably benign	Het
Col10a1	T	C	10: 34,271,696 (GRCm39)	V556A	probably benign	Het
Creg2	G	A	1: 39,662,338 (GRCm39)	L265F	probably damaging	Het
Cyp1a2	T	A	9: 57,589,433 (GRCm39)	D127V	probably damaging	Het
Cyp3a44	A	T	5: 145,740,480 (GRCm39)	Y53*	probably null	Het
Cyth1	C	T	11: 118,073,634 (GRCm39)	R233Q	probably damaging	Het
Dnmbp	G	A	19: 43,890,346 (GRCm39)	H474Y	possibly damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ercc2	G	A	7: 19,120,717 (GRCm39)	R206H	possibly damaging	Het
Evx2	T	A	2: 74,486,360 (GRCm39)	H343L	probably damaging	Het
Fcrl2	T	A	3: 87,164,648 (GRCm39)	I293F	probably benign	Het
Gcnt4	A	G	13: 97,082,974 (GRCm39)	E90G	probably damaging	Het
Gid8	T	G	2: 180,358,751 (GRCm39)	C139G	probably benign	Het
Gm11938	C	A	11: 99,493,933 (GRCm39)	C54F	probably damaging	Het
Gm3336	G	A	8: 71,174,509 (GRCm39)	V158I	probably benign	Het
Gucy1b1	T	C	3: 81,968,327 (GRCm39)	N60D	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hsp90ab1	A	G	17: 45,880,629 (GRCm39)	F361L	possibly damaging	Het
Igf2bp3	A	T	6: 49,085,858 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,775,118 (GRCm39)	I772N	probably damaging	Het
Iqca1	A	G	1: 90,017,238 (GRCm39)	L390P	possibly damaging	Het
Itgb2	C	T	10: 77,396,082 (GRCm39)	R586W	probably benign	Het
Itih1	A	G	14: 30,655,432 (GRCm39)	S588P	possibly damaging	Het
Iyd	T	A	10: 3,497,166 (GRCm39)		probably null	Het
Kl	A	G	5: 150,912,425 (GRCm39)	K725E	probably benign	Het
Layn	T	A	9: 50,968,697 (GRCm39)	M349L	probably benign	Het
Map3k5	T	C	10: 19,900,683 (GRCm39)	Y286H	probably damaging	Het
Med4	C	T	14: 73,755,472 (GRCm39)		probably benign	Het
Mfn1	T	A	3: 32,588,400 (GRCm39)	N42K	possibly damaging	Het
Mindy2	T	C	9: 70,563,874 (GRCm39)	D152G	probably benign	Het
Mrc2	A	G	11: 105,238,682 (GRCm39)		probably null	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Msh6	G	A	17: 88,293,568 (GRCm39)	W774*	probably null	Het
Mtch1	A	T	17: 29,561,841 (GRCm39)	V121E	probably damaging	Het
Mtg2	G	T	2: 179,725,923 (GRCm39)	E178*	probably null	Het
Nbas	A	T	12: 13,491,510 (GRCm39)	N1461Y	probably damaging	Het
Ndfip2	A	G	14: 105,525,204 (GRCm39)	T65A	probably benign	Het
Ninl	G	T	2: 150,786,503 (GRCm39)	Q1146K	probably damaging	Het
Notch1	T	C	2: 26,350,873 (GRCm39)	D2089G	possibly damaging	Het
Notch3	C	T	17: 32,366,818 (GRCm39)	V906M	probably damaging	Het
Or51l14	A	G	7: 103,101,371 (GRCm39)	I276V	probably benign	Het
Or6b6	A	G	7: 106,570,775 (GRCm39)	Y259H	probably damaging	Het
Osmr	A	T	15: 6,873,891 (GRCm39)	Y169N	probably benign	Het
Ovgp1	T	C	3: 105,885,033 (GRCm39)	V124A	possibly damaging	Het
Pde4dip	T	C	3: 97,631,534 (GRCm39)	Q1125R	probably damaging	Het
Podn	A	T	4: 107,878,892 (GRCm39)	V180E	probably damaging	Het
Pold1	A	T	7: 44,188,542 (GRCm39)	V475E	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Satb1	G	T	17: 52,047,438 (GRCm39)	Q595K	probably benign	Het
Scaf8	T	A	17: 3,214,407 (GRCm39)		probably null	Het
Semp2l1	T	A	1: 32,585,128 (GRCm39)	M261L	probably benign	Het
Serpinb3a	C	T	1: 106,975,202 (GRCm39)		probably null	Het
Slc22a26	T	C	19: 7,779,480 (GRCm39)	D112G	probably damaging	Het
Slc25a23	A	G	17: 57,352,562 (GRCm39)	F441L	probably benign	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slc6a15	T	C	10: 103,229,269 (GRCm39)	Y103H	probably damaging	Het
Slx4	A	G	16: 3,804,223 (GRCm39)	S864P	probably benign	Het
Snap91	T	C	9: 86,707,130 (GRCm39)	E220G	probably damaging	Het
Spam1	T	C	6: 24,796,267 (GRCm39)	F73L	probably damaging	Het
Sphkap	C	T	1: 83,255,710 (GRCm39)	V393M	probably benign	Het
Spred2	T	C	11: 19,971,241 (GRCm39)	Y370H	probably damaging	Het
Sqle	T	C	15: 59,195,578 (GRCm39)		probably null	Het
Srrm2	A	G	17: 24,037,237 (GRCm39)	T1390A	probably benign	Het
Tas1r2	A	G	4: 139,396,352 (GRCm39)	R564G	possibly damaging	Het
Tbl2	G	T	5: 135,185,374 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,901 (GRCm39)	D606G	possibly damaging	Het
Tdpoz3	T	A	3: 93,734,087 (GRCm39)	L254H	probably damaging	Het
Trpm1	A	T	7: 63,884,736 (GRCm39)	I806F	probably damaging	Het
Ttc22	A	G	4: 106,496,237 (GRCm39)	D429G	probably benign	Het
Ube2o	C	A	11: 116,471,972 (GRCm39)	G90C	probably damaging	Het
Usp34	T	A	11: 23,332,602 (GRCm39)	F1110I	probably damaging	Het
Vmn2r82	T	C	10: 79,214,722 (GRCm39)	L235P	probably damaging	Het
Vps35	A	G	8: 86,013,129 (GRCm39)	V116A	probably benign	Het
Wdfy3	A	G	5: 102,046,291 (GRCm39)		probably null	Het
Zeb2	T	C	2: 44,878,821 (GRCm39)	K1138E	probably benign	Het
Zfp513	G	A	5: 31,357,866 (GRCm39)	T169I	probably benign	Het
Zfp629	T	C	7: 127,211,551 (GRCm39)	D86G	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
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
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'- GTTCAAGTATGCGGAGGACATG -3'
(R):5'- AAGTGTGGATCTGGACCCAG -3'

Sequencing Primer
(F):5'- AGGTGAGCTTCATCTTCTTGAGCTC -3'
(R):5'- AGAGCTCTGGATTCCAATGTC -3'

Posted On

2014-10-01