Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:P2rx2'

374640

Institutional Source

Beutler Lab

Gene Symbol

P2rx2

Ensembl Gene

ENSMUSG00000029503

Gene Name

purinergic receptor P2X, ligand-gated ion channel, 2

Synonyms

P2x2, P2X2a

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110339812-110343212 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110341568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 167 (T167S)

Ref Sequence

ENSEMBL: ENSMUSP00000142567 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000058016
AA Change: T266S

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503
AA Change: T266S

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 benign
Transcript: ENSMUST00000112478
AA Change: T254S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108097
Gene: ENSMUSG00000029503
AA Change: T254S

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 benign
Transcript: ENSMUST00000186408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190060

Predicted Effect

probably benign
Transcript: ENSMUST00000195985
AA Change: T254S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503
AA Change: T254S

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

noncoding transcript
Transcript: ENSMUST00000199165

Predicted Effect

probably benign
Transcript: ENSMUST00000200037
AA Change: T254S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143554
Gene: ENSMUSG00000029503
AA Change: T254S

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 benign
Transcript: ENSMUST00000200214
AA Change: T167S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142567
Gene: ENSMUSG00000029503
AA Change: T167S

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

Meta Mutation Damage Score

0.0928

Coding Region Coverage

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

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,512		probably null	Het
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abcc12	T	A	8: 86,538,376	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172	W384L	probably damaging	Het
Acvr1	A	G	2: 58,477,711	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,784,316	M238K	probably benign	Het
BC005561	A	T	5: 104,517,750	D46V	possibly damaging	Het
Cd3eap	T	A	7: 19,357,759	Q141L	probably damaging	Het
Clmn	A	T	12: 104,797,094	I91N	probably damaging	Het
Cog8	A	T	8: 107,050,174	L523H	probably damaging	Het
Cpxm2	T	A	7: 132,059,747	K437M	probably benign	Het
Dhx57	A	T	17: 80,253,111	V999E	probably damaging	Het
Dnpep	T	C	1: 75,309,230		probably benign	Het
Dok3	G	A	13: 55,523,457	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,784,343	H275Y	probably benign	Het
Ednra	A	T	8: 77,667,383	N361K	probably damaging	Het
Ei24	A	T	9: 36,784,565	S210R	probably damaging	Het
Erich3	T	A	3: 154,764,804	V158E	unknown	Het
Fam193a	T	A	5: 34,466,205	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,808,828	V2304A	probably damaging	Het
Fcgbp	A	C	7: 28,086,344	D402A	probably benign	Het
Fkbp14	T	C	6: 54,585,945		probably benign	Het
Fnip1	G	A	11: 54,515,556	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,552,964	K289R	probably null	Het
Fuca2	A	T	10: 13,505,907	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,810,970	V116A	probably benign	Het
Gm10770	T	A	2: 150,178,896	K234*	probably null	Het
Gm9887	A	G	12: 69,371,989		probably benign	Het
Gtf3c2	A	G	5: 31,159,233		probably benign	Het
H2-M10.3	T	C	17: 36,366,636	D250G	probably damaging	Het
Hapln4	G	A	8: 70,084,492	V26M	possibly damaging	Het
Hook3	G	A	8: 26,038,029	A611V	probably damaging	Het
Hr	T	C	14: 70,571,972	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,609,416	S388P	probably damaging	Het
Itga3	T	A	11: 95,061,967	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,665,520	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,401,946	S132P	probably damaging	Het
Lama3	T	C	18: 12,498,678		probably benign	Het
Lama3	C	T	18: 12,539,793	A2481V	probably damaging	Het
Lce1e	A	T	3: 92,707,871	C56*	probably null	Het
Lmcd1	T	C	6: 112,287,871		probably benign	Het
Lrrc14	T	A	15: 76,713,362		probably null	Het
Map4k5	G	A	12: 69,818,438	P591L	probably benign	Het
Mapk13	C	A	17: 28,776,310	D168E	probably damaging	Het
Marf1	A	C	16: 14,132,665	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,254,281		probably null	Het
Mical3	T	C	6: 121,033,787	I411M	probably damaging	Het
Myo5a	A	T	9: 75,217,507	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,808,130	V1174A	probably benign	Het
Ncdn	A	T	4: 126,750,423	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,392,638	M408L	possibly damaging	Het
Nf1	T	C	11: 79,409,409	L249P	probably damaging	Het
Nlrp9b	T	A	7: 20,049,596		probably null	Het
Nxpe3	A	T	16: 55,849,633	Y370N	probably damaging	Het
Pcdhb19	G	T	18: 37,499,108	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,768,281	L722P	probably benign	Het
Pde6a	A	T	18: 61,245,592	I329F	probably damaging	Het
Pdpr	T	A	8: 111,101,951	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,486,312	D173G	probably benign	Het
Plcd4	A	G	1: 74,565,802		probably null	Het
Pou2f2	A	G	7: 25,097,108		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,366,702		probably benign	Het
Ppp1r42	T	C	1: 10,003,386		probably benign	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rab12	A	T	17: 66,498,108	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,470	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,492,421	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,103,911	K6*	probably null	Het
Rasgef1a	A	G	6: 118,089,139	M438V	probably benign	Het
Recql	T	G	6: 142,359,006		probably benign	Het
Rftn2	A	G	1: 55,172,039	V425A	probably benign	Het
Ror1	A	G	4: 100,409,804	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,806,054	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,320,002	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,690,980	I268R	probably damaging	Het
Sin3b	G	A	8: 72,744,948	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,412,654	M203T	possibly damaging	Het
Soat1	T	C	1: 156,432,328	N481S	probably damaging	Het
Sos2	G	A	12: 69,640,154	T206I	probably benign	Het
Sp100	G	T	1: 85,705,003	A132S	probably benign	Het
Spata31d1c	T	A	13: 65,035,790	L382*	probably null	Het
Stard9	T	A	2: 120,700,860	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,435,390	T286A	probably benign	Het
Tedc2	T	A	17: 24,217,936	K275M	probably damaging	Het
Ten1	A	T	11: 116,218,231	K242N	probably benign	Het
Tial1	C	T	7: 128,455,028	V1I	probably damaging	Het
Tle2	G	A	10: 81,588,891	R649H	possibly damaging	Het
Tmem178	A	G	17: 80,944,945	D86G	probably benign	Het
Trim29	T	A	9: 43,329,575	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 42,300,708	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,750,598	Q414H	possibly damaging	Het
Yars	A	T	4: 129,189,882		probably benign	Het
Yipf4	A	G	17: 74,494,092	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,645,866		probably benign	Het
Zfp426	T	C	9: 20,470,038	Y536C	probably damaging	Het
Zp2	T	G	7: 120,135,772	Y430S	probably damaging	Het

Other mutations in P2rx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02332:P2rx2	APN	5	110341805	missense	probably benign	0.22
IGL02523:P2rx2	APN	5	110342042	missense	probably damaging	0.98
IGL02535:P2rx2	APN	5	110342353	missense	probably benign	0.02
IGL02663:P2rx2	APN	5	110340249	missense	possibly damaging	0.84
IGL02663:P2rx2	APN	5	110340186	splice site	probably null
IGL02756:P2rx2	APN	5	110342410	splice site	probably benign
IGL03177:P2rx2	APN	5	110341613	missense	probably damaging	1.00
R0382:P2rx2	UTSW	5	110341179	missense	probably benign	0.25
R2092:P2rx2	UTSW	5	110341141	missense	probably damaging	1.00
R2104:P2rx2	UTSW	5	110341141	missense	probably damaging	1.00
R2226:P2rx2	UTSW	5	110342879	missense	probably damaging	0.98
R2395:P2rx2	UTSW	5	110341661	missense	probably damaging	1.00
R4854:P2rx2	UTSW	5	110340927	missense	probably damaging	0.99
R5125:P2rx2	UTSW	5	110342651	missense	possibly damaging	0.59
R5250:P2rx2	UTSW	5	110341588	missense	probably damaging	0.98
R5366:P2rx2	UTSW	5	110341828	missense	probably damaging	1.00
R5559:P2rx2	UTSW	5	110340561	missense	possibly damaging	0.90
R5827:P2rx2	UTSW	5	110340329	missense	probably benign	0.03
R7617:P2rx2	UTSW	5	110342084	missense	probably damaging	1.00
R7792:P2rx2	UTSW	5	110340344	missense	possibly damaging	0.90
R8690:P2rx2	UTSW	5	110342514	missense	probably damaging	1.00
R9274:P2rx2	UTSW	5	110341843	missense	probably damaging	1.00
R9398:P2rx2	UTSW	5	110340272	missense	probably benign	0.01
R9642:P2rx2	UTSW	5	110342012	missense	possibly damaging	0.89
R9664:P2rx2	UTSW	5	110340306	missense	probably benign	0.07
R9711:P2rx2	UTSW	5	110342522	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- CAGTGAGGTACTAGCACCAGTC -3'
(R):5'- CGACCAGTATGTAGGCATGTG -3'

Sequencing Primer
(F):5'- TCAATAATTGAGCGGGTGCC -3'
(R):5'- AGGCATGTGCTGGGAGC -3'

Posted On

2016-03-17