Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:P2rx1'

43302

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

038679-MU

Accession Numbers

Essential gene?

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

Stock #

R0479 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

72889929-72906026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72903787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 283 (V283A)

Ref Sequence

ENSEMBL: ENSMUSP00000090614 (fasta)

Gene Model

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

AlphaFold

P51576

Predicted Effect

probably damaging
Transcript: ENSMUST00000021141
AA Change: V310A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021141
Gene: ENSMUSG00000020787
AA Change: V310A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092938
AA Change: V283A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090614
Gene: ENSMUSG00000020787
AA Change: V283A

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: ENSMUST00000156243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180695

Meta Mutation Damage Score

0.1259

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,159,712 (GRCm39)	V269A	probably benign	Het
Acsl1	G	A	8: 46,984,109 (GRCm39)	G543R	probably damaging	Het
Adam18	T	C	8: 25,141,838 (GRCm39)	N244D	probably benign	Het
Adgra3	C	T	5: 50,147,607 (GRCm39)	V478M	probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Arhgef10	A	T	8: 15,041,070 (GRCm39)	E723V	probably damaging	Het
Arid3a	C	A	10: 79,787,128 (GRCm39)	N519K	possibly damaging	Het
Atrn	T	A	2: 130,841,085 (GRCm39)	Y1162*	probably null	Het
Cacng5	T	A	11: 107,768,777 (GRCm39)	N172Y	probably benign	Het
Cct8	C	T	16: 87,284,594 (GRCm39)	V198M	probably damaging	Het
Cep192	G	A	18: 67,991,089 (GRCm39)	S1857N	probably damaging	Het
Cherp	A	T	8: 73,216,991 (GRCm39)	D657E	possibly damaging	Het
Clca3a2	T	G	3: 144,796,610 (GRCm39)	D199A	probably damaging	Het
Cops7b	A	G	1: 86,532,798 (GRCm39)	T219A	probably benign	Het
Crb1	C	T	1: 139,126,352 (GRCm39)	M1392I	probably damaging	Het
Csf3r	A	C	4: 125,937,616 (GRCm39)	E833D	probably damaging	Het
Cutc	A	G	19: 43,756,655 (GRCm39)	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,451,449 (GRCm39)	L17P	probably damaging	Het
D5Ertd615e	T	A	5: 45,320,796 (GRCm39)		noncoding transcript	Het
Ddx60	G	T	8: 62,422,691 (GRCm39)	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,226,497 (GRCm39)	T268I	probably damaging	Het
Dgke	T	C	11: 88,943,296 (GRCm39)	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,746,513 (GRCm39)		probably benign	Het
Dll3	A	G	7: 28,000,974 (GRCm39)	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,556,861 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,176,861 (GRCm39)	F1461L	probably damaging	Het
Enpep	A	G	3: 129,106,323 (GRCm39)	V301A	possibly damaging	Het
Eny2	T	A	15: 44,299,000 (GRCm39)		probably null	Het
Esr1	A	G	10: 4,947,911 (GRCm39)	D488G	probably damaging	Het
Ets1	A	G	9: 32,641,476 (GRCm39)	K110E	probably damaging	Het
Eya2	T	A	2: 165,557,876 (GRCm39)	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,314,608 (GRCm39)	D223A	possibly damaging	Het
Fbh1	A	G	2: 11,763,230 (GRCm39)	Y475H	probably damaging	Het
Fbxo39	T	C	11: 72,208,419 (GRCm39)	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,306,740 (GRCm39)	V23A	probably damaging	Het
Foxp3	A	G	X: 7,453,583 (GRCm39)	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,522,867 (GRCm39)	F250S	probably damaging	Het
Gaa	A	G	11: 119,172,062 (GRCm39)	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,030,377 (GRCm39)	V816A	probably benign	Het
Glb1l3	T	A	9: 26,740,389 (GRCm39)	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,483,942 (GRCm39)	E101G	possibly damaging	Het
Hydin	A	C	8: 111,325,720 (GRCm39)	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627 (GRCm39)	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683 (GRCm39)	Y29C	probably damaging	Het
Ints7	T	A	1: 191,346,666 (GRCm39)		probably null	Het
Iqub	T	C	6: 24,505,809 (GRCm39)	E33G	probably benign	Het
Itgb1bp2	T	A	X: 100,492,806 (GRCm39)	C10S	probably damaging	Het
Katnip	T	C	7: 125,442,518 (GRCm39)	L809S	probably benign	Het
Kcnd1	T	A	X: 7,697,461 (GRCm39)	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,051,812 (GRCm39)	L135P	probably damaging	Het
Ksr1	T	C	11: 78,916,109 (GRCm39)	D574G	probably damaging	Het
Lama5	C	T	2: 179,826,250 (GRCm39)	R2331H	probably benign	Het
Larp1	C	A	11: 57,933,646 (GRCm39)	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,771,992 (GRCm39)		probably benign	Het
Lmbrd1	T	A	1: 24,785,878 (GRCm39)		probably benign	Het
Methig1	A	T	15: 100,272,825 (GRCm39)	K53*	probably null	Het
Mfap3	T	A	11: 57,420,469 (GRCm39)	I150N	probably damaging	Het
Mug1	A	T	6: 121,817,186 (GRCm39)	Q85L	probably benign	Het
Npl	A	G	1: 153,391,155 (GRCm39)	V200A	probably damaging	Het
Nuf2	A	T	1: 169,326,503 (GRCm39)		probably benign	Het
Obscn	A	G	11: 59,003,533 (GRCm39)	V1255A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5h18	C	T	16: 58,847,491 (GRCm39)	V260M	possibly damaging	Het
Or8b51	T	C	9: 38,569,478 (GRCm39)	D70G	probably damaging	Het
Pex2	C	A	3: 5,626,355 (GRCm39)	L151F	probably damaging	Het
Pias1	A	G	9: 62,800,400 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,257,105 (GRCm39)		probably benign	Het
Pogz	A	G	3: 94,783,947 (GRCm39)	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,553,309 (GRCm39)		probably null	Het
Prl	G	A	13: 27,248,911 (GRCm39)	D189N	probably damaging	Het
Prpf6	A	G	2: 181,292,920 (GRCm39)	N794S	probably benign	Het
Prr36	G	A	8: 4,263,930 (GRCm39)	Q579*	probably null	Het
Ptprq	A	T	10: 107,479,855 (GRCm39)	Y1138*	probably null	Het
Rabepk	A	T	2: 34,675,592 (GRCm39)	H179Q	probably damaging	Het
Rest	T	C	5: 77,430,598 (GRCm39)	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,441,175 (GRCm39)		probably benign	Het
Rnpepl1	T	C	1: 92,846,587 (GRCm39)		probably benign	Het
Ro60	A	T	1: 143,633,489 (GRCm39)	D536E	possibly damaging	Het
Sacs	T	A	14: 61,428,928 (GRCm39)	L329Q	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Setd5	A	T	6: 113,091,994 (GRCm39)	I272F	probably damaging	Het
Sgk1	G	T	10: 21,872,209 (GRCm39)	A262S	probably benign	Het
Skint2	G	A	4: 112,481,238 (GRCm39)	V34I	possibly damaging	Het
Skint5	G	C	4: 113,512,869 (GRCm39)	Q888E	unknown	Het
Slc4a3	T	C	1: 75,528,472 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,047,519 (GRCm39)	E133G	probably damaging	Het
Spryd3	G	A	15: 102,038,835 (GRCm39)	R129*	probably null	Het
Stag1	T	A	9: 100,810,144 (GRCm39)	N782K	probably benign	Het
Stam	T	C	2: 14,122,306 (GRCm39)	L132P	probably damaging	Het
Stard9	T	A	2: 120,528,077 (GRCm39)	S1445T	probably damaging	Het
Syt5	C	T	7: 4,546,108 (GRCm39)	R94Q	probably benign	Het
Tbc1d23	A	T	16: 56,992,177 (GRCm39)	H594Q	probably damaging	Het
Tecta	T	A	9: 42,249,235 (GRCm39)	I1871F	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Thrb	T	C	14: 18,033,643 (GRCm38)	F469L	probably damaging	Het
Tyr	T	C	7: 87,142,429 (GRCm39)	S44G	possibly damaging	Het
Usp20	T	A	2: 30,907,487 (GRCm39)	V673E	probably benign	Het
Usp28	T	C	9: 48,948,513 (GRCm39)	S873P	probably damaging	Het
Usp43	C	T	11: 67,788,100 (GRCm39)	V306M	possibly damaging	Het
Wdr17	G	T	8: 55,104,456 (GRCm39)		probably null	Het
Wsb2	T	G	5: 117,514,744 (GRCm39)		probably benign	Het
Xkrx	A	T	X: 133,051,715 (GRCm39)	L312Q	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
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
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'- TCACCATTCTCCTTGAGCAATGCTG -3'
(R):5'- GGGAAAGTCAAACCTGCCTCCTAC -3'

Sequencing Primer
(F):5'- CTTGAGCAATGCTGGAGGG -3'
(R):5'- CAGGTCAGTAAACCTGAGCTTTG -3'

Posted On

2013-05-23