Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:P2rx4'

165310

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

039518-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122707544-122729738 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 122714539 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 92 (P92Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031429 (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: P92Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031429
Gene: ENSMUSG00000029470
AA Change: P92Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081554
AA Change: P92Q

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080269
Gene: ENSMUSG00000029470
AA Change: P92Q

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

possibly damaging
Transcript: ENSMUST00000139631
AA Change: P92Q

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118163
Gene: ENSMUSG00000029470
AA Change: P92Q

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

possibly damaging
Transcript: ENSMUST00000142664
AA Change: P92Q

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117193
Gene: ENSMUSG00000029470
AA Change: P92Q

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

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: 99.5%
3x: 98.0%
10x: 91.0%
20x: 72.6%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	G	2: 111,225,403		probably null	Het
6030469F06Rik	A	G	12: 31,184,915		noncoding transcript	Het
Adamts8	T	A	9: 30,951,377	W86R	probably benign	Het
Adh1	A	G	3: 138,288,747		probably null	Het
Adipor2	A	T	6: 119,361,843	W150R	probably damaging	Het
Aff4	T	A	11: 53,372,524	S124T	probably damaging	Het
Ahnak	G	T	19: 9,004,896	K1181N	probably damaging	Het
Alkbh5	A	G	11: 60,539,047	I209V	probably benign	Het
Ankrd11	T	C	8: 122,892,724	E1442G	probably damaging	Het
Apba2	T	A	7: 64,695,549	D162E	probably benign	Het
Asic3	G	A	5: 24,413,821	G37E	probably damaging	Het
AU040320	A	T	4: 126,792,031	K133N	possibly damaging	Het
C1qtnf7	A	G	5: 43,609,139	S34G	probably benign	Het
Ccdc148	T	A	2: 58,906,362	R463*	probably null	Het
Ccdc148	T	C	2: 58,934,443	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,748,698	I142T	probably benign	Het
Chrna10	G	A	7: 102,114,247	P114S	probably damaging	Het
Chst10	A	G	1: 38,865,691	I311T	probably damaging	Het
Cpne9	T	C	6: 113,294,737	Y353H	probably damaging	Het
Cubn	G	T	2: 13,325,288	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,905,565	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,538,406	T117A	probably damaging	Het
Ddah1	A	T	3: 145,853,274	K96*	probably null	Het
Ddx5	A	C	11: 106,784,885	D326E	probably benign	Het
Dlg2	T	C	7: 91,968,198	S323P	probably damaging	Het
Dnaaf1	C	T	8: 119,579,310	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,695,173	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,214,167	T642A	probably benign	Het
Dnajc18	A	G	18: 35,680,847	S290P	possibly damaging	Het
Dscam	T	A	16: 96,801,253	H663L	possibly damaging	Het
Emc1	A	G	4: 139,370,937	N740S	probably damaging	Het
Enpp2	C	T	15: 54,863,812	G541D	probably damaging	Het
Fam234b	C	T	6: 135,228,492	T485I	probably benign	Het
Fbxl13	A	T	5: 21,483,991	I773K	probably benign	Het
Fmo4	A	G	1: 162,794,355	F429S	possibly damaging	Het
Frem1	T	C	4: 83,011,879	S277G	probably damaging	Het
Gaa	A	G	11: 119,272,984	I221V	probably benign	Het
Gm12794	T	A	4: 101,941,306	L158Q	probably damaging	Het
Gm6614	C	T	6: 141,992,517	W225*	probably null	Het
H2afy	A	T	13: 56,083,136	S310T	probably damaging	Het
Helz2	T	C	2: 181,239,654	E345G	probably damaging	Het
Ifna4	G	T	4: 88,842,000	R47I	probably damaging	Het
Igsf21	C	A	4: 140,034,525	A281S	probably benign	Het
Ikzf3	T	A	11: 98,516,905	I37L	probably benign	Het
Jag1	T	C	2: 137,115,648	E48G	probably damaging	Het
Jarid2	G	T	13: 44,848,381	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,485,404	L125P	probably damaging	Het
Kif21b	A	G	1: 136,156,153	K713E	possibly damaging	Het
Layn	T	A	9: 51,057,586	S286C	probably damaging	Het
Lepr	T	A	4: 101,735,681	D164E	probably benign	Het
Map3k1	T	C	13: 111,755,871	H950R	possibly damaging	Het
Map4k5	C	A	12: 69,805,350	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 120,021,261	S895T	probably benign	Het
Naca	T	A	10: 128,048,288	M2157K	probably damaging	Het
Nav2	T	C	7: 49,362,204	I61T	probably damaging	Het
Nkx2-5	C	A	17: 26,839,279	A234S	probably benign	Het
Nol8	G	A	13: 49,676,788	S1116N	probably benign	Het
Nppa	T	C	4: 148,000,847	S5P	probably benign	Het
Nup210	A	G	6: 91,053,569	V123A	possibly damaging	Het
Olfr532	G	T	7: 140,419,373	N133K	probably benign	Het
Osbpl11	A	G	16: 33,229,085	K604R	probably damaging	Het
Osbpl1a	C	T	18: 12,914,558	S113N	probably benign	Het
Pde9a	A	T	17: 31,473,162	Q148L	probably benign	Het
Phf21b	T	A	15: 84,804,959	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,461,841	F977I	probably damaging	Het
Pp2d1	T	G	17: 53,515,987	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,866,566	E415G	probably damaging	Het
Prkg1	A	G	19: 30,578,870	S559P	probably damaging	Het
Prss45	A	T	9: 110,840,951	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,572,591	N849K	probably damaging	Het
Rnf121	A	G	7: 102,031,575	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,461,911	N502S	probably damaging	Het
Sap25	T	A	5: 137,642,360	Y167*	probably null	Het
Sdk2	G	A	11: 113,830,080	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,635,553	V302A	probably benign	Het
Skor1	T	A	9: 63,140,111	M865L	possibly damaging	Het
Slc35g1	C	A	19: 38,403,217	L316I	probably benign	Het
Spint4	T	A	2: 164,698,648	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,547,234	D178V	probably benign	Het
Tbc1d2	T	A	4: 46,606,491	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,181,223		probably null	Het
Teddm2	C	T	1: 153,850,531	W146*	probably null	Het
Ttn	T	A	2: 76,758,994	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274	T102A	probably damaging	Het
Uxs1	G	A	1: 43,764,916	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,505,256	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,279,178	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,265,232	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,223,932	L137F	probably benign	Het
Vps13b	C	T	15: 35,709,484	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,596,269	H347R	probably benign	Het
Wnk2	G	A	13: 49,081,975	P655S	probably damaging	Het
Zan	T	G	5: 137,419,929	D2969A	unknown	Het
Zbtb24	A	G	10: 41,455,079	H334R	probably damaging	Het
Zfp108	A	G	7: 24,260,548	D188G	probably benign	Het
Zfp784	A	T	7: 5,035,801	C253S	possibly damaging	Het
Zfr	T	G	15: 12,146,372	C336W	probably damaging	Het

Other mutations in P2rx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0709:P2rx4	UTSW	5	122714404	missense	probably damaging	1.00
R1081:P2rx4	UTSW	5	122727233	missense	probably damaging	0.98
R1464:P2rx4	UTSW	5	122714539	missense	probably damaging	0.97
R3434:P2rx4	UTSW	5	122725070	missense	probably damaging	1.00
R3435:P2rx4	UTSW	5	122725070	missense	probably damaging	1.00
R5090:P2rx4	UTSW	5	122725055	missense	probably damaging	1.00
R5318:P2rx4	UTSW	5	122719148	missense	probably null	1.00
R5888:P2rx4	UTSW	5	122719165	missense	probably benign
R5888:P2rx4	UTSW	5	122727208	missense	probably damaging	1.00
R5994:P2rx4	UTSW	5	122725079	missense	probably damaging	1.00
R6450:P2rx4	UTSW	5	122727241	missense	possibly damaging	0.88
R6478:P2rx4	UTSW	5	122707700	missense	probably damaging	0.99
R6847:P2rx4	UTSW	5	122727751	missense	probably damaging	1.00
X0064:P2rx4	UTSW	5	122707779	nonsense	probably null
X0066:P2rx4	UTSW	5	122707745	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TCAGATACTCCTCTGTGTCAGGTCG -3'
(R):5'- GGAGCCAGCTACATTACTACAGCG -3'

Sequencing Primer
(F):5'- GACTTTACTGTTCCTGTGACCTAC -3'
(R):5'- GCGCTGTAAAGCTCTCAAG -3'

Posted On

2014-03-28