Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:P2rx4'

457785

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

044089-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122845607-122867801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122865271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 299 (Y299D)

Ref Sequence

ENSEMBL: ENSMUSP00000031429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031429] [ENSMUST00000081554] [ENSMUST00000111668] [ENSMUST00000139631] [ENSMUST00000142664] [ENSMUST00000198560]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031429
AA Change: Y299D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031429
Gene: ENSMUSG00000029470
AA Change: Y299D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081554
AA Change: Y272D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080269
Gene: ENSMUSG00000029470
AA Change: Y272D

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 benign
Transcript: ENSMUST00000111668

SMART Domains

Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471

Domain	Start	End	E-Value	Type
low complexity region	124	144	N/A	INTRINSIC
S_TKc	165	446	1.53e-92	SMART
low complexity region	464	472	N/A	INTRINSIC
low complexity region	526	539	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132062

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139631
AA Change: Y272D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118163
Gene: ENSMUSG00000029470
AA Change: Y272D

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: Y299D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117193
Gene: ENSMUSG00000029470
AA Change: Y299D

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

Meta Mutation Damage Score

0.9118

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,089,095 (GRCm39)	V503E	possibly damaging	Het
Alk	C	A	17: 72,181,938 (GRCm39)	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,492,453 (GRCm39)	I208N	possibly damaging	Het
Asap2	T	A	12: 21,268,191 (GRCm39)	I319N	probably damaging	Het
Atp11b	T	C	3: 35,891,696 (GRCm39)	I1036T	probably benign	Het
B4gat1	T	C	19: 5,089,560 (GRCm39)	F186L	probably benign	Het
C3	T	A	17: 57,521,831 (GRCm39)	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,525,902 (GRCm39)	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,487,614 (GRCm39)	G266R	probably damaging	Het
Cd63	T	A	10: 128,748,160 (GRCm39)		probably null	Het
Chd7	G	A	4: 8,866,382 (GRCm39)	M851I	probably damaging	Het
Chst13	T	A	6: 90,286,554 (GRCm39)	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,258,014 (GRCm39)	T179A	probably benign	Het
Dclre1b	A	T	3: 103,711,053 (GRCm39)	V286E	probably damaging	Het
Defb45	G	A	2: 152,435,154 (GRCm39)		probably benign	Het
Dlg1	T	C	16: 31,610,704 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,901,002 (GRCm39)	V321A	probably benign	Het
Dytn	A	T	1: 63,716,396 (GRCm39)	V59E	possibly damaging	Het
Efcab3	T	C	11: 104,612,227 (GRCm39)		probably benign	Het
Eif2ak1	A	G	5: 143,823,733 (GRCm39)	I393M	probably damaging	Het
Fam83g	A	T	11: 61,593,420 (GRCm39)	E318V	probably benign	Het
Fbxo34	T	A	14: 47,767,176 (GRCm39)	F179I	probably damaging	Het
Fmo5	T	A	3: 97,549,041 (GRCm39)	Y230N	probably benign	Het
Fzd9	T	G	5: 135,278,317 (GRCm39)		probably null	Het
Gata2	T	C	6: 88,177,722 (GRCm39)	S251P	probably benign	Het
Gigyf1	A	G	5: 137,523,959 (GRCm39)	D1043G	probably damaging	Het
Gm10322	T	A	10: 59,452,125 (GRCm39)	S81T	probably benign	Het
Gm15517	A	T	7: 43,910,066 (GRCm39)		probably benign	Het
Haus4	T	C	14: 54,781,676 (GRCm39)	T232A	probably benign	Het
Hgfac	A	T	5: 35,202,751 (GRCm39)	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,772,118 (GRCm39)	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 88,054,077 (GRCm39)	R195L	probably benign	Het
Kcnn2	A	T	18: 45,725,412 (GRCm39)	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,798,122 (GRCm39)	F879S	probably damaging	Het
Kndc1	T	C	7: 139,475,133 (GRCm39)	F11L	probably benign	Het
Kpna7	A	G	5: 144,926,605 (GRCm39)	F449S	probably damaging	Het
Krt77	G	T	15: 101,773,888 (GRCm39)	N255K	probably benign	Het
Lair1	A	T	7: 4,013,844 (GRCm39)	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,490,211 (GRCm39)	V1318A	probably damaging	Het
Marchf10	A	T	11: 105,292,972 (GRCm39)	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,256,969 (GRCm39)	M169K	probably benign	Het
Mdc1	T	A	17: 36,158,712 (GRCm39)	V364E	probably benign	Het
Mfsd11	T	C	11: 116,762,210 (GRCm39)	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,798,031 (GRCm39)	D108A	probably benign	Het
Mink1	A	T	11: 70,500,885 (GRCm39)		probably benign	Het
Mmp25	T	C	17: 23,850,048 (GRCm39)	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,168,870 (GRCm39)	V52I	probably benign	Het
Msh4	C	T	3: 153,573,360 (GRCm39)		probably null	Het
Muc5b	T	G	7: 141,412,158 (GRCm39)	S1701R	unknown	Het
Naalad2	A	T	9: 18,241,937 (GRCm39)	S656T	probably benign	Het
Ncapd2	T	C	6: 125,164,052 (GRCm39)	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,389,420 (GRCm39)	S347T	possibly damaging	Het
Ndufb11b	T	C	15: 81,864,872 (GRCm39)	S38P	probably benign	Het
Nipal4	T	C	11: 46,042,166 (GRCm39)	T172A	probably damaging	Het
Nrros	T	C	16: 31,961,905 (GRCm39)	K652R	probably benign	Het
Nrxn3	G	T	12: 89,478,855 (GRCm39)	A983S	possibly damaging	Het
Or4a76	T	A	2: 89,461,143 (GRCm39)	Y33F	probably damaging	Het
Or4ac1-ps1	T	C	2: 88,370,588 (GRCm39)		noncoding transcript	Het
Or4c115	T	A	2: 88,928,269 (GRCm39)	M1L	probably damaging	Het
Or4k77	T	C	2: 111,199,088 (GRCm39)	M37T	probably benign	Het
Or51m1	A	G	7: 103,578,239 (GRCm39)	T70A	possibly damaging	Het
Or8g24	A	T	9: 38,989,263 (GRCm39)	Y259*	probably null	Het
Or8k37	A	C	2: 86,469,488 (GRCm39)	L188R	probably damaging	Het
Pcsk6	A	T	7: 65,693,372 (GRCm39)	L7F	probably null	Het
Pdss2	T	C	10: 43,097,793 (GRCm39)		silent	Het
Pfkl	A	G	10: 77,827,204 (GRCm39)	V494A	possibly damaging	Het
Prep	G	T	10: 44,943,460 (GRCm39)	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,328,101 (GRCm39)	F188S	probably damaging	Het
Ripor3	T	C	2: 167,839,207 (GRCm39)	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,054,069 (GRCm39)		probably null	Het
Rnf24	A	G	2: 131,164,165 (GRCm39)		probably benign	Het
Rps18-ps6	G	A	13: 97,896,901 (GRCm39)	R66*	probably null	Het
Scn3a	A	G	2: 65,327,742 (GRCm39)	M916T	probably benign	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sh2b3	C	G	5: 121,967,084 (GRCm39)	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,960,585 (GRCm39)	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,638,324 (GRCm39)	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,247,351 (GRCm39)	E448V	probably damaging	Het
Slit1	C	A	19: 41,731,735 (GRCm39)	C38F	probably damaging	Het
Spock3	T	A	8: 63,808,334 (GRCm39)	N410K	unknown	Het
Supt20	G	T	3: 54,619,628 (GRCm39)	W370L	probably benign	Het
Tas2r139	T	A	6: 42,118,430 (GRCm39)	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,031,311 (GRCm39)	V111I	probably benign	Het
Thsd7b	T	A	1: 130,138,057 (GRCm39)	Y1578*	probably null	Het
Tln2	T	A	9: 67,136,685 (GRCm39)	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,490,185 (GRCm39)	V363I	probably damaging	Het
Ttc32	A	G	12: 9,085,870 (GRCm39)	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,412,550 (GRCm39)	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,295,780 (GRCm39)	T106I	probably damaging	Het
Zfp677	T	A	17: 21,618,520 (GRCm39)	C526S	probably damaging	Het
Zfp831	T	G	2: 174,485,420 (GRCm39)	S32A	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	122,857,228 (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'- CACATTAACTAGGAGGCTGACC -3'
(R):5'- GGGATGATGTCAAACTTGCCAG -3'

Sequencing Primer
(F):5'- TGGAGCAACTCGTTAACC -3'
(R):5'- ATGTCAAACTTGCCAGCCTGG -3'

Posted On

2017-02-15