Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:P2rx4'

480993

Institutional Source

Beutler Lab

Gene Symbol

P2rx4

Ensembl Gene

ENSMUSG00000029470

Gene Name

purinergic receptor P2X, ligand-gated ion channel 4

Synonyms

D5Ertd444e, P2X4

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122845607-122867801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122863142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 232 (L232H)

Ref Sequence

ENSEMBL: ENSMUSP00000117193 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031429] [ENSMUST00000081554] [ENSMUST00000139631] [ENSMUST00000142664] [ENSMUST00000198560]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031429
AA Change: L232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031429
Gene: ENSMUSG00000029470
AA Change: L232H

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	13	381	3e-175	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000081554
AA Change: L205H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080269
Gene: ENSMUSG00000029470
AA Change: L205H

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	13	176	1.6e-72	PFAM
Pfam:P2X_receptor	170	361	2.7e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132062

Predicted Effect

probably damaging
Transcript: ENSMUST00000139631
AA Change: L205H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118163
Gene: ENSMUSG00000029470
AA Change: L205H

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	13	176	3.7e-73	PFAM
Pfam:P2X_receptor	171	301	4.6e-59	PFAM
Pfam:P2X_receptor	299	331	1.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139712

Predicted Effect

probably damaging
Transcript: ENSMUST00000142664
AA Change: L232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117193
Gene: ENSMUSG00000029470
AA Change: L232H

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	13	358	2.7e-151	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198560

SMART Domains

Protein: ENSMUSP00000142849
Gene: ENSMUSG00000029470

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	13	47	6.9e-9	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

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 purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in hypertension, abnormal artery morphology, abnormal nitric oxide homeostasis, and impaired flow induced vascular remodeling and vasodilation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,647,862 (GRCm39)	H1118L	probably benign	Het
Abca8b	A	G	11: 109,840,592 (GRCm39)		probably null	Het
Abcb5	A	T	12: 118,928,995 (GRCm39)		probably null	Het
Adcy6	A	T	15: 98,491,545 (GRCm39)	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,562,140 (GRCm39)	C312S	probably damaging	Het
Ano8	C	T	8: 71,937,478 (GRCm39)	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,886,187 (GRCm39)	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,715,935 (GRCm39)	L195P	probably damaging	Het
Cfap54	A	G	10: 92,874,943 (GRCm39)	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,831,689 (GRCm39)		probably benign	Het
Cyp4x1	T	C	4: 114,979,142 (GRCm39)	I152V	probably benign	Het
Dglucy	G	A	12: 100,808,959 (GRCm39)	R219Q	probably benign	Het
Disp3	G	T	4: 148,338,741 (GRCm39)	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,478,517 (GRCm39)	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,493,377 (GRCm39)	I105N	probably damaging	Het
Eepd1	C	T	9: 25,514,749 (GRCm39)	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,294 (GRCm39)	S155C	probably benign	Het
Gm10134	A	T	2: 28,396,258 (GRCm39)	E51V	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golga7	T	C	8: 23,740,281 (GRCm39)	E83G	probably benign	Het
Gpr12	T	C	5: 146,520,241 (GRCm39)	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,141,372 (GRCm39)	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,239,607 (GRCm39)	S3282P	unknown	Het
Ift74	C	A	4: 94,579,961 (GRCm39)	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,285 (GRCm39)	R420L	probably damaging	Het
Krt77	T	A	15: 101,771,290 (GRCm39)	I338F	probably damaging	Het
Limch1	A	T	5: 67,131,965 (GRCm39)	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,469,234 (GRCm39)	H270L	probably benign	Het
Myrf	A	T	19: 10,196,481 (GRCm39)	L504Q	probably null	Het
Nckipsd	A	G	9: 108,691,176 (GRCm39)	Q366R	probably benign	Het
Npy5r	A	T	8: 67,134,751 (GRCm39)	V14D	probably benign	Het
Nrap	T	A	19: 56,340,031 (GRCm39)	R830*	probably null	Het
Ogfrl1	A	T	1: 23,418,070 (GRCm39)	Y103N	probably damaging	Het
Or10g7	A	T	9: 39,905,519 (GRCm39)	R138*	probably null	Het
Pabpc2	A	T	18: 39,906,947 (GRCm39)	T71S	probably benign	Het
Paip2b	C	A	6: 83,785,867 (GRCm39)	S121I	probably damaging	Het
Pofut1	C	T	2: 153,103,149 (GRCm39)	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,101,004 (GRCm39)	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,584,261 (GRCm39)	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,501,725 (GRCm39)		probably null	Het
Psd3	C	T	8: 68,172,620 (GRCm39)	A894T	probably damaging	Het
Pygm	A	T	19: 6,448,073 (GRCm39)		probably null	Het
Pzp	A	T	6: 128,468,560 (GRCm39)	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,203,373 (GRCm39)	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,740,986 (GRCm39)	F575L	probably benign	Het
Rassf6	A	G	5: 90,765,627 (GRCm39)	L28S	probably damaging	Het
Rbp3	G	T	14: 33,676,857 (GRCm39)	K268N	probably damaging	Het
Rela	C	T	19: 5,697,092 (GRCm39)	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,473,894 (GRCm39)	S102R	probably damaging	Het
Scarf2	A	G	16: 17,624,243 (GRCm39)	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,429,403 (GRCm39)	I241T	probably damaging	Het
Septin7	T	C	9: 25,199,494 (GRCm39)	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,357,570 (GRCm39)	F191L	probably damaging	Het
Siglec15	C	A	18: 78,090,590 (GRCm39)	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,295,562 (GRCm39)	T520A	probably benign	Het
Slc26a11	C	A	11: 119,270,738 (GRCm39)	F553L	probably benign	Het
Smchd1	G	A	17: 71,672,404 (GRCm39)	P1596S	possibly damaging	Het
Taar7b	A	G	10: 23,876,246 (GRCm39)	H137R	probably damaging	Het
Thap12	T	A	7: 98,365,237 (GRCm39)	C468*	probably null	Het
Timp4	C	T	6: 115,224,315 (GRCm39)	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,065,003 (GRCm39)	K48E	probably damaging	Het
Trmt10a	T	A	3: 137,862,475 (GRCm39)	I255N	probably damaging	Het
Ttll10	T	C	4: 156,133,189 (GRCm39)		probably null	Het
Tut7	T	G	13: 59,937,023 (GRCm39)	Y806S	probably damaging	Het
Ube4b	A	G	4: 149,457,389 (GRCm39)	Y283H	probably damaging	Het
Ucp1	G	T	8: 84,020,567 (GRCm39)	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596 (GRCm39)		probably benign	Het
Vps13b	T	C	15: 35,875,918 (GRCm39)	S2768P	probably damaging	Het
Zfp101	T	A	17: 33,599,936 (GRCm39)	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464 (GRCm39)	V2527M	possibly damaging	Het
Zfp503	T	A	14: 22,035,630 (GRCm39)	T429S	possibly damaging	Het

Other mutations in P2rx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0709:P2rx4	UTSW	5	122,852,467 (GRCm39)	missense	probably damaging	1.00
R1081:P2rx4	UTSW	5	122,865,296 (GRCm39)	missense	probably damaging	0.98
R1464:P2rx4	UTSW	5	122,852,602 (GRCm39)	missense	probably damaging	0.97
R1464:P2rx4	UTSW	5	122,852,602 (GRCm39)	missense	probably damaging	0.97
R3434:P2rx4	UTSW	5	122,863,133 (GRCm39)	missense	probably damaging	1.00
R3435:P2rx4	UTSW	5	122,863,133 (GRCm39)	missense	probably damaging	1.00
R5090:P2rx4	UTSW	5	122,863,118 (GRCm39)	missense	probably damaging	1.00
R5318:P2rx4	UTSW	5	122,857,211 (GRCm39)	missense	probably null	1.00
R5888:P2rx4	UTSW	5	122,865,271 (GRCm39)	missense	probably damaging	1.00
R5888:P2rx4	UTSW	5	122,857,228 (GRCm39)	missense	probably benign
R6450:P2rx4	UTSW	5	122,865,304 (GRCm39)	missense	possibly damaging	0.88
R6478:P2rx4	UTSW	5	122,845,763 (GRCm39)	missense	probably damaging	0.99
R6847:P2rx4	UTSW	5	122,865,814 (GRCm39)	missense	probably damaging	1.00
X0064:P2rx4	UTSW	5	122,845,842 (GRCm39)	nonsense	probably null
X0066:P2rx4	UTSW	5	122,845,808 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGCTGCAGAAAACTTCACCC -3'
(R):5'- ATACCCATGATGCCTCCCTG -3'

Sequencing Primer
(F):5'- TCCATAACGAGATCTGGTGC -3'
(R):5'- CCTGTGGGGAAAGCAGG -3'

Posted On

2017-06-26