Mutagenetix > Incidental Mutation

Incidental Mutation 'R9711:P2rx2'

730147

Institutional Source

Beutler Lab

Gene Symbol

P2rx2

Ensembl Gene

ENSMUSG00000029503

Gene Name

purinergic receptor P2X, ligand-gated ion channel, 2

Synonyms

P2X2a, P2x2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110487678-110491078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110490388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 109 (E109G)

Ref Sequence

ENSEMBL: ENSMUSP00000054233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058016] [ENSMUST00000112478] [ENSMUST00000185691] [ENSMUST00000186408] [ENSMUST00000195985] [ENSMUST00000200037] [ENSMUST00000200214]

AlphaFold

Q8K3P1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058016
AA Change: E109G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503
AA Change: E109G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:P2X_receptor	27	388	1.5e-149	PFAM
low complexity region	419	436	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112478
AA Change: E97G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108097
Gene: ENSMUSG00000029503
AA Change: E97G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:P2X_receptor	27	395	4e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185691

SMART Domains

Protein: ENSMUSP00000139397
Gene: ENSMUSG00000072754

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Colipase-like	26	85	3.8e-19	PFAM
Pfam:Colipase-like	66	155	3.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186408

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195985
AA Change: E97G

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503
AA Change: E97G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:P2X_receptor	27	393	7.4e-144	PFAM
low complexity region	419	436	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200037
AA Change: E97G

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143554
Gene: ENSMUSG00000029503
AA Change: E97G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:P2X_receptor	27	388	5.5e-149	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200214
AA Change: E10G

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142567
Gene: ENSMUSG00000029503
AA Change: E10G

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	1	306	1.3e-117	PFAM
low complexity region	332	349	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous mutant mice are viable and show no gross pathology. Mice show abnormal ventilatory and electrophysiological responses to hypoxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,275,388 (GRCm39)	D430G	probably damaging	Het
Adgrf1	T	C	17: 43,621,580 (GRCm39)	S606P	possibly damaging	Het
Afap1	A	G	5: 36,141,540 (GRCm39)	N475D	probably damaging	Het
Ahnak2	A	G	12: 112,739,468 (GRCm39)	S1535P	possibly damaging	Het
Akt1	G	T	12: 112,624,885 (GRCm39)	H194N	possibly damaging	Het
Api5	T	A	2: 94,251,812 (GRCm39)	Q396L	possibly damaging	Het
Aplp2	T	C	9: 31,083,303 (GRCm39)	N148S	probably benign	Het
Asb3	A	G	11: 31,031,400 (GRCm39)	Y340C	probably damaging	Het
Bbox1	A	T	2: 110,098,581 (GRCm39)	M332K	probably damaging	Het
Cabin1	A	T	10: 75,579,090 (GRCm39)	S449T	probably benign	Het
Carns1	A	G	19: 4,216,007 (GRCm39)	V725A	possibly damaging	Het
Cdkn1b	A	G	6: 134,898,058 (GRCm39)	K59R	possibly damaging	Het
Cdv3	A	T	9: 103,233,539 (GRCm39)	I212K	probably damaging	Het
Clec14a	T	A	12: 58,314,432 (GRCm39)	I397F	probably damaging	Het
Cnnm1	A	G	19: 43,483,469 (GRCm39)	I950V	possibly damaging	Het
Ddi2	A	G	4: 141,422,734 (GRCm39)	M326T	probably benign	Het
Dhx30	T	C	9: 109,914,103 (GRCm39)	T1065A	probably benign	Het
Eif3c	A	T	7: 126,146,674 (GRCm39)	M808K	possibly damaging	Het
Evi2	G	T	11: 79,406,971 (GRCm39)	H201Q	possibly damaging	Het
Exoc4	A	G	6: 33,452,991 (GRCm39)	T494A	unknown	Het
Fam83f	T	A	15: 80,574,819 (GRCm39)	M242K	probably damaging	Het
Fat4	T	C	3: 39,055,374 (GRCm39)	Y4198H	probably benign	Het
Fcgbp	C	A	7: 27,793,000 (GRCm39)	N1001K	probably benign	Het
Gda	G	T	19: 21,400,449 (GRCm39)	A164E	probably damaging	Het
Gm19410	T	C	8: 36,279,493 (GRCm39)	V1786A	possibly damaging	Het
Gm45871	A	G	18: 90,609,069 (GRCm39)	N82S	probably benign	Het
Gnas	T	A	2: 174,141,392 (GRCm39)	S580T	unknown	Het
Gprin1	G	A	13: 54,886,714 (GRCm39)	P520L	probably benign	Het
Gramd4	C	T	15: 86,014,751 (GRCm39)	R433C	probably damaging	Het
Ighv5-12	T	A	12: 113,665,958 (GRCm39)	T47S	probably benign	Het
Itprid1	T	G	6: 55,864,018 (GRCm39)	S115A	probably damaging	Het
Kdm5a	T	A	6: 120,367,658 (GRCm39)	L451Q	probably damaging	Het
Kif12	T	A	4: 63,084,126 (GRCm39)	R624S	probably benign	Het
Lepr	T	A	4: 101,592,851 (GRCm39)	Y155*	probably null	Het
Lnx2	T	A	5: 146,961,376 (GRCm39)	I519F	probably damaging	Het
Marchf7	T	A	2: 60,060,175 (GRCm39)	S101T	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Morc2a	T	A	11: 3,600,381 (GRCm39)	M1K	probably null	Het
Mtus1	T	C	8: 41,536,222 (GRCm39)	N498S	probably damaging	Het
Mxd1	T	A	6: 86,645,554 (GRCm39)	R46W	probably damaging	Het
Ndufa11	G	C	17: 57,024,843 (GRCm39)	A2P	possibly damaging	Het
Necab2	C	T	8: 120,198,513 (GRCm39)	H362Y	probably damaging	Het
Nphp4	G	A	4: 152,623,434 (GRCm39)	V703I	possibly damaging	Het
Nup54	T	C	5: 92,582,218 (GRCm39)	N31S	unknown	Het
Or13a23-ps1	T	A	7: 140,118,497 (GRCm39)	S22R	probably benign	Het
Or1ad6	T	C	11: 50,860,316 (GRCm39)	L157P	probably damaging	Het
Or1e34	A	T	11: 73,778,696 (GRCm39)	C167*	probably null	Het
Or8b4	A	C	9: 37,830,066 (GRCm39)	T38P	probably damaging	Het
Pcdha7	T	C	18: 37,107,409 (GRCm39)	S145P	probably damaging	Het
Pdlim5	A	T	3: 141,948,529 (GRCm39)	V586E	probably damaging	Het
Pex5l	T	C	3: 33,136,204 (GRCm39)	E5G	probably benign	Het
Plch1	T	A	3: 63,615,176 (GRCm39)	D774V	probably damaging	Het
Plekhg3	A	T	12: 76,611,726 (GRCm39)	D335V	possibly damaging	Het
Pop1	A	G	15: 34,530,227 (GRCm39)	H905R	probably benign	Het
Ppm1k	T	C	6: 57,492,720 (GRCm39)	T189A	probably damaging	Het
Pramel13	A	G	4: 144,122,517 (GRCm39)	L9P	probably damaging	Het
Recql5	A	G	11: 115,784,367 (GRCm39)	V911A	probably damaging	Het
Rnf145	T	A	11: 44,415,830 (GRCm39)	L15*	probably null	Het
Rpl13a	A	G	7: 44,776,673 (GRCm39)	V29A	probably benign	Het
Rps6ka5	A	G	12: 100,540,250 (GRCm39)	V491A	probably benign	Het
Setbp1	T	C	18: 78,900,142 (GRCm39)	H1175R	probably benign	Het
Setd5	T	C	6: 113,093,063 (GRCm39)	S372P	probably damaging	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc36a2	T	C	11: 55,070,169 (GRCm39)	N136S	probably benign	Het
Spag1	G	A	15: 36,190,683 (GRCm39)		probably null	Het
Spon1	A	C	7: 113,387,685 (GRCm39)	T81P	probably damaging	Het
Sv2b	A	T	7: 74,856,238 (GRCm39)	D17E	probably benign	Het
Tasor2	A	G	13: 3,649,667 (GRCm39)	V44A	probably benign	Het
Tax1bp1	C	T	6: 52,704,215 (GRCm39)	T65I	probably damaging	Het
Tenm2	C	A	11: 35,915,341 (GRCm39)	K2065N	probably damaging	Het
Ticam2	T	C	18: 46,693,658 (GRCm39)	D143G	probably damaging	Het
Tmem132d	T	C	5: 127,869,579 (GRCm39)	E585G	possibly damaging	Het
Tnfrsf8	C	T	4: 145,019,668 (GRCm39)		probably null	Het
Trim44	C	T	2: 102,230,813 (GRCm39)	G73R	unknown	Het
Trpc3	C	T	3: 36,692,713 (GRCm39)	D760N	possibly damaging	Het
Tspan9	T	A	6: 127,942,715 (GRCm39)	M171L	probably benign	Het
Ugt2b37	A	G	5: 87,402,532 (GRCm39)	F33S	possibly damaging	Het
Vav2	A	T	2: 27,159,027 (GRCm39)	V734E	probably damaging	Het
Vmn1r214	A	G	13: 23,218,508 (GRCm39)	M1V	probably null	Het
Vmn1r24	A	T	6: 57,932,804 (GRCm39)	V238E	probably damaging	Het
Vmn2r107	A	G	17: 20,577,262 (GRCm39)	Q420R	probably damaging	Het
Vmn2r31	G	A	7: 7,387,085 (GRCm39)	P829S	probably damaging	Het
Xpo6	A	G	7: 125,712,873 (GRCm39)	F703L	probably benign	Het
Zfp442	T	A	2: 150,250,207 (GRCm39)	H565L	possibly damaging	Het
Zfp950	A	T	19: 61,116,000 (GRCm39)	D2E	probably damaging	Het
Zfp992	T	A	4: 146,551,345 (GRCm39)	S355R	probably damaging	Het
Zwilch	A	T	9: 64,063,303 (GRCm39)	F309Y	probably damaging	Het

Other mutations in P2rx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02332:P2rx2	APN	5	110,489,671 (GRCm39)	missense	probably benign	0.22
IGL02523:P2rx2	APN	5	110,489,908 (GRCm39)	missense	probably damaging	0.98
IGL02535:P2rx2	APN	5	110,490,219 (GRCm39)	missense	probably benign	0.02
IGL02663:P2rx2	APN	5	110,488,052 (GRCm39)	splice site	probably null
IGL02663:P2rx2	APN	5	110,488,115 (GRCm39)	missense	possibly damaging	0.84
IGL02756:P2rx2	APN	5	110,490,276 (GRCm39)	splice site	probably benign
IGL03177:P2rx2	APN	5	110,489,479 (GRCm39)	missense	probably damaging	1.00
R0382:P2rx2	UTSW	5	110,489,045 (GRCm39)	missense	probably benign	0.25
R2092:P2rx2	UTSW	5	110,489,007 (GRCm39)	missense	probably damaging	1.00
R2104:P2rx2	UTSW	5	110,489,007 (GRCm39)	missense	probably damaging	1.00
R2226:P2rx2	UTSW	5	110,490,745 (GRCm39)	missense	probably damaging	0.98
R2395:P2rx2	UTSW	5	110,489,527 (GRCm39)	missense	probably damaging	1.00
R4854:P2rx2	UTSW	5	110,488,793 (GRCm39)	missense	probably damaging	0.99
R4863:P2rx2	UTSW	5	110,489,434 (GRCm39)	missense	probably benign	0.23
R5125:P2rx2	UTSW	5	110,490,517 (GRCm39)	missense	possibly damaging	0.59
R5250:P2rx2	UTSW	5	110,489,454 (GRCm39)	missense	probably damaging	0.98
R5366:P2rx2	UTSW	5	110,489,694 (GRCm39)	missense	probably damaging	1.00
R5559:P2rx2	UTSW	5	110,488,427 (GRCm39)	missense	possibly damaging	0.90
R5827:P2rx2	UTSW	5	110,488,195 (GRCm39)	missense	probably benign	0.03
R7617:P2rx2	UTSW	5	110,489,950 (GRCm39)	missense	probably damaging	1.00
R7792:P2rx2	UTSW	5	110,488,210 (GRCm39)	missense	possibly damaging	0.90
R8690:P2rx2	UTSW	5	110,490,380 (GRCm39)	missense	probably damaging	1.00
R9274:P2rx2	UTSW	5	110,489,709 (GRCm39)	missense	probably damaging	1.00
R9398:P2rx2	UTSW	5	110,488,138 (GRCm39)	missense	probably benign	0.01
R9642:P2rx2	UTSW	5	110,489,878 (GRCm39)	missense	possibly damaging	0.89
R9664:P2rx2	UTSW	5	110,488,172 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TAGGTTTTCCCAGACCACCC -3'
(R):5'- GGGCTTTAGGAGAGGGATATCC -3'

Sequencing Primer
(F):5'- GCATGTTCCCAGGGTCTG -3'
(R):5'- GCTACCAGGATAGCGAAA -3'

Posted On

2022-10-06