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

122845607-122867801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122852467 bp (GRCm39)

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: 14,436,358 (GRCm39)	D137V	probably damaging	Het
Aar2	C	T	2: 156,408,930 (GRCm39)	P378L	probably damaging	Het
Abcc5	A	T	16: 20,195,342 (GRCm39)	H718Q	possibly damaging	Het
Ace	G	T	11: 105,872,364 (GRCm39)	L319F	probably damaging	Het
Angpt4	C	A	2: 151,776,434 (GRCm39)	P321T	possibly damaging	Het
Atrip	T	C	9: 108,896,171 (GRCm39)	N282S	probably benign	Het
AW554918	A	C	18: 25,596,711 (GRCm39)	S525R	probably damaging	Het
Ccdc136	T	A	6: 29,414,969 (GRCm39)	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,200,719 (GRCm39)	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,863,127 (GRCm39)	H223R	probably benign	Het
Cd109	T	C	9: 78,579,260 (GRCm39)	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,790,616 (GRCm39)		probably benign	Het
Copb2	A	T	9: 98,445,220 (GRCm39)		probably benign	Het
Csrnp3	C	T	2: 65,852,907 (GRCm39)	S445L	probably damaging	Het
Cxcl13	G	T	5: 96,106,530 (GRCm39)	C34F	probably damaging	Het
Dars2	T	C	1: 160,874,498 (GRCm39)	E397G	probably benign	Het
Dlg5	C	T	14: 24,196,323 (GRCm39)	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,606,222 (GRCm39)		probably benign	Het
Eif4a1	C	A	11: 69,561,078 (GRCm39)	A76S	probably damaging	Het
Fam162b	T	A	10: 51,463,347 (GRCm39)	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,167,057 (GRCm39)	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359 (GRCm39)	F152L	probably damaging	Het
Galnt2	G	A	8: 125,070,085 (GRCm39)	G534D	probably benign	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,697,906 (GRCm39)	V74E	probably damaging	Het
Gprc5a	T	A	6: 135,055,948 (GRCm39)	S132T	probably damaging	Het
Hk3	G	A	13: 55,162,543 (GRCm39)	R47C	probably damaging	Het
Hrnr	A	T	3: 93,239,815 (GRCm39)	Q3351L	unknown	Het
Icam1	T	A	9: 20,930,423 (GRCm39)	F92L	probably damaging	Het
Ifi213	C	T	1: 173,417,366 (GRCm39)	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,275,888 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,526,048 (GRCm39)	V487A	possibly damaging	Het
Kalrn	A	G	16: 33,855,924 (GRCm39)	V204A	probably damaging	Het
Krt16	T	C	11: 100,137,280 (GRCm39)		probably benign	Het
Loxhd1	G	A	18: 77,492,665 (GRCm39)	V1369I	probably benign	Het
Med13	T	A	11: 86,210,422 (GRCm39)	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,234,962 (GRCm39)	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,877,732 (GRCm39)	D461V	unknown	Het
Nek6	T	A	2: 38,447,858 (GRCm39)	S41T	probably damaging	Het
Nudt22	T	C	19: 6,970,874 (GRCm39)	E232G	probably damaging	Het
Numbl	C	A	7: 26,973,415 (GRCm39)	F192L	probably damaging	Het
Or4c105	C	T	2: 88,648,226 (GRCm39)	T237I	probably benign	Het
Or7g12	T	A	9: 18,899,422 (GRCm39)	I46K	probably damaging	Het
Phka1	T	A	X: 101,629,710 (GRCm39)	I478F	probably damaging	Het
Pkn2	G	A	3: 142,536,281 (GRCm39)	T200I	probably damaging	Het
Plcg1	T	A	2: 160,593,698 (GRCm39)		probably null	Het
Polg2	C	T	11: 106,659,239 (GRCm39)	G425R	probably damaging	Het
Ptprm	G	T	17: 67,251,327 (GRCm39)		probably null	Het
Reg1	G	A	6: 78,405,101 (GRCm39)	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,084,367 (GRCm39)	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,265,603 (GRCm39)	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,836,985 (GRCm39)	V28M	possibly damaging	Het
Snap29	A	G	16: 17,224,012 (GRCm39)	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,469 (GRCm39)		probably benign	Het
Sorcs3	G	A	19: 48,475,845 (GRCm39)	A235T	probably benign	Het
Sp100	T	A	1: 85,622,002 (GRCm39)	N362K	probably damaging	Het
Sqor	A	T	2: 122,641,775 (GRCm39)	I32F	probably benign	Het
Stx6	C	T	1: 155,069,040 (GRCm39)	R189C	probably damaging	Het
Tchp	T	C	5: 114,855,514 (GRCm39)	I298T	probably damaging	Het
Themis	A	G	10: 28,637,570 (GRCm39)	I225V	probably benign	Het
Timm50	A	T	7: 28,006,366 (GRCm39)	V245E	probably damaging	Het
Tnxb	A	G	17: 34,908,328 (GRCm39)	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Tradd	T	C	8: 105,987,276 (GRCm39)	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Ttn	T	C	2: 76,729,747 (GRCm39)		probably benign	Het
Ttr	A	T	18: 20,803,034 (GRCm39)		probably null	Het
Ubp1	A	G	9: 113,773,999 (GRCm39)	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,263,166 (GRCm39)	N98K	probably damaging	Het
Yipf5	A	G	18: 40,340,825 (GRCm39)	S176P	probably benign	Het
Zpbp2	C	T	11: 98,444,763 (GRCm39)	T97I	probably damaging	Het

Other mutations in P2rx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- CATCTCCTGGAGCTTGTGACTGTG -3'
(R):5'- AACCAGCAAGGTGCTTCCTGTG -3'

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

Posted On

2013-07-30