Mutagenetix > Incidental Mutation

Incidental Mutation 'R6478:P2rx4'

516901

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

044610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6478 (G1)

Quality Score

82.0076

Status

Validated

Chromosome

Chromosomal Location

122845607-122867801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122845763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 16 (D16G)

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 benign
Transcript: ENSMUST00000031429
AA Change: D16G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000031429
Gene: ENSMUSG00000029470
AA Change: D16G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000081554
AA Change: D16G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080269
Gene: ENSMUSG00000029470
AA Change: D16G

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

probably damaging
Transcript: ENSMUST00000139631
AA Change: D16G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118163
Gene: ENSMUSG00000029470
AA Change: D16G

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

probably damaging
Transcript: ENSMUST00000142664
AA Change: D16G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117193
Gene: ENSMUSG00000029470
AA Change: D16G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195963

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198560
AA Change: D16G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142849
Gene: ENSMUSG00000029470
AA Change: D16G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (75/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	A	11: 119,901,817 (GRCm39)	S803C	probably benign	Het
Abcc9	C	T	6: 142,625,034 (GRCm39)	A454T	probably damaging	Het
Abr	T	C	11: 76,343,158 (GRCm39)	E565G	probably damaging	Het
Adam33	C	A	2: 130,893,266 (GRCm39)	R753L	probably benign	Het
Adgre1	A	G	17: 57,708,955 (GRCm39)	T49A	possibly damaging	Het
Ankra2	A	T	13: 98,404,950 (GRCm39)	H153L	probably damaging	Het
Ankrd26	T	G	6: 118,488,599 (GRCm39)	E1353D	probably benign	Het
Ankrd52	T	G	10: 128,215,200 (GRCm39)		probably null	Het
Arhgef10l	T	A	4: 140,270,068 (GRCm39)	T619S	possibly damaging	Het
Armh4	A	G	14: 50,010,789 (GRCm39)	V306A	possibly damaging	Het
Asgr1	T	C	11: 69,947,720 (GRCm39)	V130A	possibly damaging	Het
Atg10	C	A	13: 91,085,466 (GRCm39)	C161F	probably damaging	Het
Atm	A	T	9: 53,401,554 (GRCm39)	N1438K	probably damaging	Het
BC107364	T	A	3: 96,343,322 (GRCm39)		probably null	Het
Bcar3	G	T	3: 122,220,225 (GRCm39)	A41S	probably benign	Het
Btbd6	A	G	12: 112,940,932 (GRCm39)		probably benign	Het
Cchcr1	A	G	17: 35,835,600 (GRCm39)	T318A	possibly damaging	Het
Celsr1	A	T	15: 85,809,719 (GRCm39)	I2221N	probably damaging	Het
Cept1	C	T	3: 106,440,761 (GRCm39)	W48*	probably null	Het
Cfap161	T	A	7: 83,442,484 (GRCm39)	I85L	probably benign	Het
Clasp1	A	T	1: 118,439,910 (GRCm39)	R640*	probably null	Het
Col5a1	T	A	2: 27,842,448 (GRCm39)	I441N	unknown	Het
Col9a1	C	A	1: 24,224,486 (GRCm39)	L223I	unknown	Het
Dnah2	T	C	11: 69,406,836 (GRCm39)	D223G	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpy19l1	A	T	9: 24,361,992 (GRCm39)	M129K	possibly damaging	Het
Ecpas	A	T	4: 58,810,785 (GRCm39)	I1524N	probably damaging	Het
Fcgbpl1	C	G	7: 27,854,798 (GRCm39)	P1808R	probably damaging	Het
Fcrl1	C	A	3: 87,296,946 (GRCm39)	H318Q	probably benign	Het
Fer1l5	A	G	1: 36,441,612 (GRCm39)	N609S	probably damaging	Het
Fkbp4	C	T	6: 128,410,194 (GRCm39)	E256K	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Glrx	G	A	13: 75,995,418 (GRCm39)		probably null	Het
Gm7356	A	T	17: 14,221,726 (GRCm39)	M101K	probably damaging	Het
Gstp2	A	T	19: 4,090,499 (GRCm39)	I162N	probably benign	Het
Hectd3	A	C	4: 116,856,783 (GRCm39)	K443N	probably damaging	Het
Hmcn1	T	A	1: 150,540,535 (GRCm39)	R2925W	probably damaging	Het
Hspa1a	G	T	17: 35,189,282 (GRCm39)	N540K	probably damaging	Het
Ints6	A	T	14: 62,938,235 (GRCm39)	M649K	probably benign	Het
Katnb1	T	C	8: 95,822,084 (GRCm39)	V270A	possibly damaging	Het
Kctd3	A	G	1: 188,704,561 (GRCm39)	S737P	probably benign	Het
Klra10	T	C	6: 130,249,507 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,448,013 (GRCm39)	D1353G	unknown	Het
Lrrk1	A	G	7: 65,912,481 (GRCm39)	V1693A	probably damaging	Het
Mpnd	A	T	17: 56,316,575 (GRCm39)	I85F	probably damaging	Het
Myo3b	A	G	2: 70,179,304 (GRCm39)	T1173A	probably benign	Het
Myof	G	A	19: 37,892,279 (GRCm39)	P1158L	probably damaging	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ncor2	A	G	5: 125,187,069 (GRCm39)		probably benign	Het
Npepps	C	T	11: 97,149,099 (GRCm39)		probably null	Het
Opn5	T	A	17: 42,891,640 (GRCm39)	I266F	probably benign	Het
Or4a74	T	G	2: 89,439,790 (GRCm39)	I219L	probably damaging	Het
Padi2	G	T	4: 140,644,948 (GRCm39)	V61L	probably benign	Het
Pkd1l1	G	A	11: 8,813,911 (GRCm39)	T1480I	probably benign	Het
Plcb1	T	C	2: 135,177,371 (GRCm39)	S568P	probably damaging	Het
Rassf10	A	G	7: 112,554,914 (GRCm39)	E505G	probably damaging	Het
Rcan2	A	G	17: 44,147,225 (GRCm39)	E21G	probably benign	Het
Rhob	G	T	12: 8,549,585 (GRCm39)	C16*	probably null	Het
Ryr3	T	C	2: 112,490,413 (GRCm39)	N3807S	probably damaging	Het
Sass6	T	A	3: 116,415,046 (GRCm39)	N519K	probably benign	Het
Slco1a8	A	T	6: 141,939,368 (GRCm39)	N208K	possibly damaging	Het
Smad9	A	T	3: 54,689,864 (GRCm39)	D28V	probably damaging	Het
Spmip8	A	T	8: 96,047,894 (GRCm39)		probably null	Het
Tex14	G	T	11: 87,405,199 (GRCm39)	G704C	probably benign	Het
Tmc3	A	G	7: 83,271,524 (GRCm39)	N892S	probably benign	Het
Tnfaip2	T	A	12: 111,412,097 (GRCm39)	L166Q	probably damaging	Het
Triml2	A	G	8: 43,638,165 (GRCm39)		probably null	Het
Trio	A	G	15: 27,856,193 (GRCm39)	V666A	probably benign	Het
Tshz2	G	T	2: 169,726,584 (GRCm39)	L393F	probably damaging	Het
Ttn	T	G	2: 76,672,115 (GRCm39)		probably benign	Het
Tubb5	A	G	17: 36,146,734 (GRCm39)	Y159H	probably damaging	Het
Umodl1	A	G	17: 31,178,129 (GRCm39)	Y35C	probably damaging	Het
Utp4	T	C	8: 107,631,078 (GRCm39)		probably null	Het
Vmn1r60	A	T	7: 5,547,864 (GRCm39)	C79S	probably damaging	Het
Wnt5b	T	C	6: 119,410,751 (GRCm39)	T230A	probably damaging	Het
Zfp618	A	T	4: 63,050,943 (GRCm39)	I575F	probably damaging	Het
Zmym6	G	T	4: 127,017,176 (GRCm39)	V894L	possibly damaging	Het
Zpbp	T	C	11: 11,412,318 (GRCm39)		probably benign	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
R5994:P2rx4	UTSW	5	122,863,142 (GRCm39)	missense	probably damaging	1.00
R6450:P2rx4	UTSW	5	122,865,304 (GRCm39)	missense	possibly damaging	0.88
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'- CCTTTGAGAGGGTCACGAGTTG -3'
(R):5'- CCAGTGTCCTGTTCAAGCTG -3'

Sequencing Primer
(F):5'- TCACGAGTTGGGGCGTCAC -3'
(R):5'- CCTGTTCAAGCTGGTTCCAGG -3'

Posted On

2018-05-21