Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:P2rx4'

62650

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

038892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0709 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

122707544-122729738 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122714404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 47 (V47A)

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: V47A

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

SMART Domains

Protein: ENSMUSP00000031429
Gene: ENSMUSG00000029470
AA Change: V47A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000081554
AA Change: V47A

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

SMART Domains

Protein: ENSMUSP00000080269
Gene: ENSMUSG00000029470
AA Change: V47A

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: V47A

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

SMART Domains

Protein: ENSMUSP00000118163
Gene: ENSMUSG00000029470
AA Change: V47A

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: V47A

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

SMART Domains

Protein: ENSMUSP00000117193
Gene: ENSMUSG00000029470
AA Change: V47A

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

Meta Mutation Damage Score

0.4848

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in P2rx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1081:P2rx4	UTSW	5	122727233	missense	probably damaging	0.98
R1464:P2rx4	UTSW	5	122714539	missense	probably damaging	0.97
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'- CATCTCCTGGAGCTTGTGACTGTG -3'
(R):5'- AACCAGCAAGGTGCTTCCTGTG -3'

Sequencing Primer
(F):5'- TGGCTGACCACAGCGTTC -3'
(R):5'- TGTACAGATGTAGACAGCAAGAC -3'

Posted On

2013-07-30