Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01534:P2rx7'

89884

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

P2rx7

Ensembl Gene

ENSMUSG00000029468

Gene Name

purinergic receptor P2X, ligand-gated ion channel, 7

Synonyms

P2X7R, P2X7 receptor, P2X(7)

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01534

Quality Score

Status

Chromosome

Chromosomal Location

122643911-122691432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 122676698 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 409 (I409L)

Ref Sequence

ENSEMBL: ENSMUSP00000098303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031425] [ENSMUST00000100737] [ENSMUST00000121489]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031425
AA Change: I409L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031425
Gene: ENSMUSG00000029468
AA Change: I409L

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	11	403	1e-149	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100737
AA Change: I409L

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

SMART Domains

Protein: ENSMUSP00000098303
Gene: ENSMUSG00000029468
AA Change: I409L

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	11	397	3.6e-158	PFAM
low complexity region	435	451	N/A	INTRINSIC
low complexity region	516	536	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121489
AA Change: I409L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112440
Gene: ENSMUSG00000029468
AA Change: I409L

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	11	403	3.5e-149	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199371

Coding Region Coverage

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 and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,368,081	L111P	possibly damaging	Het
Adck5	C	A	15: 76,594,726	H383Q	probably damaging	Het
Asns	T	A	6: 7,675,397	H535L	probably benign	Het
Atf5	A	G	7: 44,813,038	S221P	probably damaging	Het
Atr	T	C	9: 95,865,546	Y294H	probably damaging	Het
B230307C23Rik	A	G	16: 98,008,761		probably benign	Het
C1qtnf6	C	T	15: 78,525,216	E144K	probably benign	Het
Casp8ap2	C	T	4: 32,648,134		probably benign	Het
Cd48	C	A	1: 171,695,739	P50Q	possibly damaging	Het
Cnnm4	T	C	1: 36,499,515	Y593H	probably benign	Het
Col27a1	G	A	4: 63,225,782	R569Q	probably benign	Het
Cubn	A	T	2: 13,465,933	C549*	probably null	Het
Dsg1a	T	A	18: 20,340,996	M1042K	probably benign	Het
Dzip1	T	A	14: 118,877,239	T835S	probably damaging	Het
Eif3c	T	C	7: 126,557,695	T389A	probably benign	Het
Erlin2	G	T	8: 27,031,957	E177*	probably null	Het
Fam172a	T	A	13: 77,999,711		probably benign	Het
Gabrb1	T	A	5: 71,869,429	S91T	possibly damaging	Het
Grik3	T	C	4: 125,686,190	V576A	probably damaging	Het
Gtpbp2	T	A	17: 46,163,504	Y70N	probably damaging	Het
Idh3a	T	A	9: 54,601,222		probably benign	Het
Ift74	G	A	4: 94,679,944	R406H	probably benign	Het
Kcna7	C	A	7: 45,406,511	N50K	probably damaging	Het
Kcnd2	T	C	6: 21,726,145	S546P	probably benign	Het
Lrp4	G	A	2: 91,473,641	D134N	probably damaging	Het
Mcm2	A	G	6: 88,887,718		probably null	Het
Nlrp12	T	C	7: 3,239,833	Y683C	probably benign	Het
Olfr1104	A	G	2: 87,021,884	I220T	probably damaging	Het
Olfr114	A	T	17: 37,590,072	Y94N	possibly damaging	Het
Olfr1499	T	A	19: 13,815,302	H96L	probably benign	Het
Olfr1502	A	T	19: 13,861,919	N42I	probably damaging	Het
Olfr710	T	A	7: 106,944,339	I221F	probably damaging	Het
Pde10a	A	G	17: 8,944,970	N191S	probably damaging	Het
Rabggtb	A	G	3: 153,910,259		probably null	Het
Rgs4	A	T	1: 169,744,516	C71*	probably null	Het
Rnase10	T	C	14: 51,007,979	F5L	probably benign	Het
Scn11a	T	A	9: 119,780,822	T987S	probably benign	Het
Shox2	A	C	3: 66,978,363	D126E	probably benign	Het
Slc12a1	A	G	2: 125,217,910	D910G	probably damaging	Het
Slc15a1	C	T	14: 121,464,952	C594Y	possibly damaging	Het
Spock2	C	T	10: 60,127,061		probably benign	Het
Togaram1	G	T	12: 64,966,547	D191Y	probably damaging	Het
Triml2	T	C	8: 43,187,623	V172A	probably benign	Het
Tubb3	C	T	8: 123,420,966	R213C	probably benign	Het
Vmn2r4	A	T	3: 64,406,423	V379E	probably damaging	Het
Zfp446	C	T	7: 12,979,566	P153L	probably damaging	Het
Zfp608	A	T	18: 54,898,932	N645K	probably damaging	Het

Other mutations in P2rx7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01911:P2rx7	APN	5	122658768	missense	probably damaging	0.99
IGL02375:P2rx7	APN	5	122673656	splice site	probably benign
IGL02502:P2rx7	APN	5	122680987	missense	possibly damaging	0.92
IGL03102:P2rx7	APN	5	122663605	missense	possibly damaging	0.88
IGL03179:P2rx7	APN	5	122673700	missense	possibly damaging	0.66
ailing	UTSW	5	122673736	missense	probably benign
Enfermo	UTSW	5	122652789	missense	probably damaging	0.98
Incapacitated	UTSW	5	122673793	missense	probably damaging	0.99
Sickpuppy	UTSW	5	122681003	missense	probably damaging	0.96
PIT1430001:P2rx7	UTSW	5	122681216	missense	probably damaging	0.99
R0363:P2rx7	UTSW	5	122657030	nonsense	probably null
R0558:P2rx7	UTSW	5	122673798	missense	possibly damaging	0.83
R1186:P2rx7	UTSW	5	122670451	missense	probably damaging	1.00
R1709:P2rx7	UTSW	5	122670465	missense	possibly damaging	0.95
R1856:P2rx7	UTSW	5	122681032	missense	probably damaging	1.00
R1899:P2rx7	UTSW	5	122673736	missense	probably benign
R1905:P2rx7	UTSW	5	122680952	missense	probably damaging	1.00
R2082:P2rx7	UTSW	5	122644095	missense	possibly damaging	0.92
R2117:P2rx7	UTSW	5	122681266	missense	probably benign	0.00
R2205:P2rx7	UTSW	5	122681101	missense	probably damaging	1.00
R2446:P2rx7	UTSW	5	122680816	missense	probably benign
R3151:P2rx7	UTSW	5	122681266	missense	probably benign	0.00
R4052:P2rx7	UTSW	5	122666277	missense	probably damaging	1.00
R4883:P2rx7	UTSW	5	122681066	missense	probably damaging	1.00
R4930:P2rx7	UTSW	5	122670479	missense	probably damaging	1.00
R5194:P2rx7	UTSW	5	122673795	missense	probably benign	0.00
R5257:P2rx7	UTSW	5	122681003	missense	probably damaging	0.96
R5258:P2rx7	UTSW	5	122681003	missense	probably damaging	0.96
R5481:P2rx7	UTSW	5	122680820	missense	possibly damaging	0.89
R5656:P2rx7	UTSW	5	122673717	missense	probably damaging	0.99
R5738:P2rx7	UTSW	5	122652789	missense	probably damaging	0.98
R6587:P2rx7	UTSW	5	122664550	missense	probably damaging	1.00
R7098:P2rx7	UTSW	5	122673793	missense	probably damaging	0.99
R7120:P2rx7	UTSW	5	122681294	missense	probably benign
R7180:P2rx7	UTSW	5	122680820	missense	possibly damaging	0.89
R7358:P2rx7	UTSW	5	122666142	critical splice acceptor site	probably null
R7724:P2rx7	UTSW	5	122673373	missense	probably benign	0.07

Posted On

2013-12-03