Mutagenetix > Incidental Mutation

Incidental Mutation 'R2092:P2rx2'

231827

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

040097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110487678-110491078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110489007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 203 (D203N)

Ref Sequence

ENSEMBL: ENSMUSP00000142567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007296] [ENSMUST00000058016] [ENSMUST00000112478] [ENSMUST00000112481] [ENSMUST00000185691] [ENSMUST00000195985] [ENSMUST00000200037] [ENSMUST00000200214] [ENSMUST00000186408]

AlphaFold

Q8K3P1

Predicted Effect

probably benign
Transcript: ENSMUST00000007296

SMART Domains

Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080

Domain	Start	End	E-Value	Type
POLBc	267	870	9.42e-97	SMART
Blast:POLBc	903	970	1e-28	BLAST
Blast:POLBc	1014	1073	2e-22	BLAST
Blast:POLBc	1195	1266	7e-21	BLAST
low complexity region	1275	1294	N/A	INTRINSIC
Blast:DUF1744	1401	1430	2e-7	BLAST
DUF1744	1524	1924	1.9e-236	SMART
coiled coil region	1936	1963	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058016
AA Change: D302N

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

SMART Domains

Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503
AA Change: D302N

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

probably damaging
Transcript: ENSMUST00000112478
AA Change: D290N

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

SMART Domains

Protein: ENSMUSP00000108097
Gene: ENSMUSG00000029503
AA Change: D290N

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: ENSMUST00000112481

SMART Domains

Protein: ENSMUSP00000108100
Gene: ENSMUSG00000007080

Domain	Start	End	E-Value	Type
Pfam:DUF1744	13	48	2.7e-13	PFAM
coiled coil region	60	87	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152495

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 damaging
Transcript: ENSMUST00000195985
AA Change: D290N

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

SMART Domains

Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503
AA Change: D290N

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 damaging
Transcript: ENSMUST00000200037
AA Change: D290N

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

SMART Domains

Protein: ENSMUSP00000143554
Gene: ENSMUSG00000029503
AA Change: D290N

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

probably damaging
Transcript: ENSMUST00000200214
AA Change: D203N

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

SMART Domains

Protein: ENSMUSP00000142567
Gene: ENSMUSG00000029503
AA Change: D203N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190060

Predicted Effect

probably benign
Transcript: ENSMUST00000186408

Meta Mutation Damage Score

0.9031

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,651,896 (GRCm39)	C1321*	probably null	Het
Abca8b	A	G	11: 109,857,534 (GRCm39)	F673L	possibly damaging	Het
Adam19	T	G	11: 45,951,731 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,024,041 (GRCm39)	T313A	possibly damaging	Het
Akap13	A	T	7: 75,260,318 (GRCm39)	I178F	probably benign	Het
Alb	G	GA	5: 90,611,842 (GRCm39)		probably null	Het
Bod1l	A	G	5: 41,988,860 (GRCm39)	S416P	probably damaging	Het
Casr	A	T	16: 36,330,405 (GRCm39)	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,131,737 (GRCm39)	N152S	probably benign	Het
Chrdl2	T	A	7: 99,670,184 (GRCm39)	C102*	probably null	Het
Col4a4	G	A	1: 82,476,667 (GRCm39)	S554L	unknown	Het
Col6a4	T	C	9: 105,937,530 (GRCm39)	K1392R	probably damaging	Het
Dab1	T	G	4: 104,535,974 (GRCm39)	Y128D	probably damaging	Het
Dars1	A	T	1: 128,301,755 (GRCm39)	M293K	probably damaging	Het
Dlec1	T	C	9: 118,950,912 (GRCm39)	F493L	possibly damaging	Het
Dmbt1	G	T	7: 130,651,748 (GRCm39)	W330L	probably damaging	Het
Dnah11	A	T	12: 117,976,451 (GRCm39)	M831K	possibly damaging	Het
Dock7	T	C	4: 98,897,545 (GRCm39)	N715S	possibly damaging	Het
Edc4	T	A	8: 106,614,160 (GRCm39)	L12Q	probably damaging	Het
Edem2	T	C	2: 155,550,969 (GRCm39)	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fto	C	A	8: 92,136,315 (GRCm39)	Y194*	probably null	Het
Gnptab	T	G	10: 88,276,167 (GRCm39)	Y1151*	probably null	Het
Grm1	A	G	10: 10,564,969 (GRCm39)	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,275,614 (GRCm39)	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,549,427 (GRCm39)	D70G	probably damaging	Het
Irx4	C	A	13: 73,413,605 (GRCm39)	T25K	probably damaging	Het
Kif22	C	T	7: 126,632,802 (GRCm39)	D195N	probably damaging	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Lyz1	C	T	10: 117,124,504 (GRCm39)	R144Q	probably benign	Het
Macf1	T	A	4: 123,276,971 (GRCm39)	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myh9	G	A	15: 77,648,550 (GRCm39)	Q80*	probably null	Het
Myo6	G	T	9: 80,152,964 (GRCm39)	R199L	probably damaging	Het
Naglu	G	A	11: 100,967,546 (GRCm39)	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,869,465 (GRCm39)	F140S	probably benign	Het
Or4p8	A	G	2: 88,727,611 (GRCm39)	F110S	probably damaging	Het
Or52ab7	G	A	7: 102,978,316 (GRCm39)	V208M	probably damaging	Het
Or52z1	A	T	7: 103,437,279 (GRCm39)	F68L	possibly damaging	Het
Or5b102	T	A	19: 13,041,166 (GRCm39)	Y130*	probably null	Het
Or5p81	CAAATA	CA	7: 108,266,869 (GRCm39)		probably null	Het
Or8g21	A	T	9: 38,906,485 (GRCm39)	L82Q	probably damaging	Het
Otop1	A	T	5: 38,457,110 (GRCm39)	I290F	probably damaging	Het
Pcdhb10	T	A	18: 37,547,240 (GRCm39)	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,729,616 (GRCm39)	H423R	probably benign	Het
Ptk2	A	T	15: 73,108,040 (GRCm39)	Y56*	probably null	Het
Rapgef3	T	C	15: 97,658,604 (GRCm39)	D134G	probably damaging	Het
Scaf11	A	C	15: 96,313,708 (GRCm39)	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,363,720 (GRCm39)	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,858,002 (GRCm39)	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,870,950 (GRCm39)	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,704,610 (GRCm39)	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,948,614 (GRCm39)	D555E	probably benign	Het
Smc5	T	C	19: 23,216,263 (GRCm39)	I446V	probably benign	Het
St6gal2	T	C	17: 55,817,267 (GRCm39)	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,000,141 (GRCm39)	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,121,340 (GRCm39)	L187P	probably damaging	Het
Tg	A	G	15: 66,721,456 (GRCm39)	I322V	probably null	Het
Thap12	T	C	7: 98,365,656 (GRCm39)	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,299,949 (GRCm39)	S22P	probably damaging	Het
Ttc3	C	T	16: 94,243,691 (GRCm39)	P1232S	probably benign	Het
Upk3a	A	G	15: 84,902,286 (GRCm39)	T38A	probably damaging	Het
Utrn	A	T	10: 12,554,442 (GRCm39)	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,534,578 (GRCm39)	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,538,885 (GRCm39)	T35A	possibly damaging	Het
Xkr7	C	T	2: 152,895,983 (GRCm39)	S279L	probably damaging	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp641	G	T	15: 98,191,593 (GRCm39)	T31N	probably benign	Het
Zfp74	G	A	7: 29,653,349 (GRCm39)		probably benign	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
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
R9711:P2rx2	UTSW	5	110,490,388 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- TGTCAAAGCTGTCAGTCTGAG -3'
(R):5'- TTGACACCTGGTCCCATGAC -3'

Sequencing Primer
(F):5'- TGAGGACTGTGGCACTCGAAC -3'
(R):5'- GAAATGACTAGCTCTCTGGACCTTTG -3'

Posted On

2014-09-18