Mutagenetix > Incidental Mutation

Incidental Mutation 'R1905:P2rx7'

214269

Institutional Source

Beutler Lab

Gene Symbol

P2rx7

Ensembl Gene

ENSMUSG00000029468

Gene Name

purinergic receptor P2X, ligand-gated ion channel, 7

Synonyms

P2X(7), P2X7R, P2X7 receptor

MMRRC Submission

039924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1905 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122781974-122829495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122819015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 479 (C479Y)

Ref Sequence

ENSEMBL: ENSMUSP00000098303 (fasta)

Gene Model

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

AlphaFold

Q9Z1M0

Predicted Effect

probably benign
Transcript: ENSMUST00000031425

SMART Domains

Protein: ENSMUSP00000031425
Gene: ENSMUSG00000029468

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100737
AA Change: C479Y

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

SMART Domains

Protein: ENSMUSP00000098303
Gene: ENSMUSG00000029468
AA Change: C479Y

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

probably benign
Transcript: ENSMUST00000121489

SMART Domains

Protein: ENSMUSP00000112440
Gene: ENSMUSG00000029468

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199371

Meta Mutation Damage Score

0.2045

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.1%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	T	13: 119,606,216 (GRCm39)	V153L	possibly damaging	Het
Adamts17	T	A	7: 66,697,220 (GRCm39)	C631*	probably null	Het
Adamts19	A	G	18: 59,166,017 (GRCm39)	R1070G	possibly damaging	Het
Aldh1a1	A	G	19: 20,595,362 (GRCm39)	E97G	probably damaging	Het
Bola2	T	A	7: 126,295,410 (GRCm39)	V40E	probably damaging	Het
Ccar1	A	G	10: 62,612,437 (GRCm39)	S243P	possibly damaging	Het
Cd80	A	T	16: 38,294,539 (GRCm39)	I141F	probably damaging	Het
Ceacam23	T	A	7: 17,607,477 (GRCm39)		noncoding transcript	Het
Chn2	T	C	6: 54,263,106 (GRCm39)	C92R	probably damaging	Het
Ciao2a	A	G	9: 66,039,929 (GRCm39)	K82R	probably benign	Het
Clk1	A	T	1: 58,461,101 (GRCm39)		probably benign	Het
Clock	T	C	5: 76,414,735 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 65,051,578 (GRCm39)	V26A	probably benign	Het
Csf3r	A	T	4: 125,936,538 (GRCm39)	K651N	probably benign	Het
Cul4a	T	C	8: 13,183,171 (GRCm39)	M322T	probably benign	Het
Cx3cl1	A	G	8: 95,506,687 (GRCm39)	T231A	probably benign	Het
Cyp2c68	A	T	19: 39,724,026 (GRCm39)	C213S	probably benign	Het
Dhx16	T	G	17: 36,199,247 (GRCm39)	S814A	probably benign	Het
Dnah1	T	C	14: 30,986,587 (GRCm39)	I3659V	probably benign	Het
Dock6	A	T	9: 21,740,870 (GRCm39)	V906D	probably benign	Het
Ep400	G	A	5: 110,818,814 (GRCm39)	T2738I	probably damaging	Het
Erbb4	A	T	1: 68,114,569 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,404,836 (GRCm39)	R70H	probably damaging	Het
Fam13a	T	C	6: 58,930,475 (GRCm39)	Q479R	probably damaging	Het
Fcgr4	A	T	1: 170,856,874 (GRCm39)	Q247L	probably damaging	Het
Flnc	T	A	6: 29,459,459 (GRCm39)	C2520S	probably damaging	Het
Foxn1	A	G	11: 78,262,636 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,813,772 (GRCm39)	P3364S	possibly damaging	Het
Fzd8	C	T	18: 9,213,803 (GRCm39)	T295I	probably damaging	Het
Gm4744	G	A	6: 40,928,736 (GRCm39)		probably benign	Het
Gm4871	G	T	5: 144,966,859 (GRCm39)	A208D	probably damaging	Het
Gm527	A	G	12: 64,967,797 (GRCm39)	N73S	possibly damaging	Het
Gm5414	T	C	15: 101,533,075 (GRCm39)	I451V	probably damaging	Het
Golm1	A	T	13: 59,790,065 (GRCm39)	V245E	probably benign	Het
Grik1	A	T	16: 87,693,754 (GRCm39)	Y879*	probably null	Het
Grn	C	A	11: 102,327,276 (GRCm39)	P241Q	probably damaging	Het
H2-T7	T	C	17: 36,453,833 (GRCm39)		noncoding transcript	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hmcn1	A	C	1: 150,868,606 (GRCm39)	I66S	probably damaging	Het
Hykk	T	A	9: 54,853,667 (GRCm39)	Y330N	probably benign	Het
Khdc1c	A	G	1: 21,439,281 (GRCm39)	N89S	probably benign	Het
Lcor	A	G	19: 41,572,013 (GRCm39)	D256G	possibly damaging	Het
Lrrc72	T	A	12: 36,258,661 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,808,719 (GRCm39)	S130A	probably benign	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Mfng	T	C	15: 78,657,286 (GRCm39)	T63A	probably damaging	Het
Mre11a	G	A	9: 14,710,923 (GRCm39)	D206N	probably benign	Het
Myh10	A	G	11: 68,662,694 (GRCm39)		probably benign	Het
Myt1	A	G	2: 181,439,549 (GRCm39)	D357G	probably damaging	Het
Nacad	T	A	11: 6,552,540 (GRCm39)	H217L	probably benign	Het
Ncoa1	A	G	12: 4,345,433 (GRCm39)	V638A	probably damaging	Het
Nlrp3	T	G	11: 59,439,862 (GRCm39)	F480V	probably damaging	Het
Nos1ap	A	G	1: 170,146,127 (GRCm39)	W476R	possibly damaging	Het
Nr1h4	T	A	10: 89,316,421 (GRCm39)	T220S	possibly damaging	Het
Ntf5	G	T	7: 45,065,176 (GRCm39)	V103L	probably damaging	Het
Ntm	C	A	9: 29,090,393 (GRCm39)	D109Y	probably damaging	Het
Or7e178	C	T	9: 20,226,142 (GRCm39)	E17K	probably benign	Het
Pappa2	T	A	1: 158,631,073 (GRCm39)		probably null	Het
Pgap1	A	C	1: 54,551,120 (GRCm39)	I520R	probably benign	Het
Pikfyve	G	A	1: 65,231,454 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,622,991 (GRCm39)	S744P	probably benign	Het
Pramel6	A	G	2: 87,339,526 (GRCm39)	R97G	probably damaging	Het
Pramel6	G	T	2: 87,339,527 (GRCm39)	R97M	probably damaging	Het
Psme4	T	C	11: 30,760,922 (GRCm39)	V397A	probably damaging	Het
Ptk2b	T	C	14: 66,396,119 (GRCm39)	D783G	probably damaging	Het
Ptma-ps1	T	A	7: 23,763,306 (GRCm39)	L17*	probably null	Het
Ralgapa2	C	A	2: 146,229,621 (GRCm39)	R1053L	probably damaging	Het
Sap130	C	T	18: 31,813,620 (GRCm39)	P559L	possibly damaging	Het
Sap30	T	C	8: 57,940,345 (GRCm39)	S86G	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3f	G	T	9: 107,561,575 (GRCm39)	Q500K	probably damaging	Het
Serpinb3d	T	C	1: 107,007,014 (GRCm39)	I231M	possibly damaging	Het
Sf3a1	T	A	11: 4,126,678 (GRCm39)	N563K	probably benign	Het
Sipa1l3	A	G	7: 29,038,592 (GRCm39)	S352P	possibly damaging	Het
Slc6a12	G	T	6: 121,324,402 (GRCm39)	E9*	probably null	Het
Srebf1	T	C	11: 60,095,319 (GRCm39)	D400G	probably damaging	Het
Swsap1	T	C	9: 21,867,988 (GRCm39)	Y87H	probably damaging	Het
Tanc2	G	A	11: 105,813,689 (GRCm39)	G1711D	possibly damaging	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Tdrd9	T	A	12: 112,030,061 (GRCm39)		probably benign	Het
Tdrp	T	C	8: 14,004,079 (GRCm39)	D86G	probably damaging	Het
Tmem92	A	T	11: 94,669,501 (GRCm39)	M106K	probably benign	Het
Tmf1	A	T	6: 97,138,440 (GRCm39)	C764S	possibly damaging	Het
Ttc21a	G	T	9: 119,795,823 (GRCm39)	R1219L	possibly damaging	Het
Ttn	C	T	2: 76,593,792 (GRCm39)	G18870D	probably damaging	Het
Tubgcp6	T	C	15: 88,984,811 (GRCm39)	Y1732C	probably damaging	Het
Vmn1r28	A	G	6: 58,242,912 (GRCm39)	T252A	probably benign	Het
Xirp2	A	G	2: 67,346,700 (GRCm39)	I2980M	probably damaging	Het
Zc2hc1c	A	G	12: 85,337,288 (GRCm39)	D315G	probably benign	Het

Other mutations in P2rx7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:P2rx7	APN	5	122,814,761 (GRCm39)	missense	probably damaging	1.00
IGL01911:P2rx7	APN	5	122,796,831 (GRCm39)	missense	probably damaging	0.99
IGL02375:P2rx7	APN	5	122,811,719 (GRCm39)	splice site	probably benign
IGL02502:P2rx7	APN	5	122,819,050 (GRCm39)	missense	possibly damaging	0.92
IGL03102:P2rx7	APN	5	122,801,668 (GRCm39)	missense	possibly damaging	0.88
IGL03179:P2rx7	APN	5	122,811,763 (GRCm39)	missense	possibly damaging	0.66
ailing	UTSW	5	122,811,799 (GRCm39)	missense	probably benign
Enfermo	UTSW	5	122,790,852 (GRCm39)	missense	probably damaging	0.98
Incapacitated	UTSW	5	122,811,856 (GRCm39)	missense	probably damaging	0.99
Sickpuppy	UTSW	5	122,819,066 (GRCm39)	missense	probably damaging	0.96
Stumped	UTSW	5	122,790,789 (GRCm39)	critical splice acceptor site	probably null
BB009:P2rx7	UTSW	5	122,782,245 (GRCm39)	missense	probably benign	0.01
BB019:P2rx7	UTSW	5	122,782,245 (GRCm39)	missense	probably benign	0.01
PIT1430001:P2rx7	UTSW	5	122,819,279 (GRCm39)	missense	probably damaging	0.99
R0363:P2rx7	UTSW	5	122,795,093 (GRCm39)	nonsense	probably null
R0558:P2rx7	UTSW	5	122,811,861 (GRCm39)	missense	possibly damaging	0.83
R1186:P2rx7	UTSW	5	122,808,514 (GRCm39)	missense	probably damaging	1.00
R1709:P2rx7	UTSW	5	122,808,528 (GRCm39)	missense	possibly damaging	0.95
R1856:P2rx7	UTSW	5	122,819,095 (GRCm39)	missense	probably damaging	1.00
R1899:P2rx7	UTSW	5	122,811,799 (GRCm39)	missense	probably benign
R2082:P2rx7	UTSW	5	122,782,158 (GRCm39)	missense	possibly damaging	0.92
R2117:P2rx7	UTSW	5	122,819,329 (GRCm39)	missense	probably benign	0.00
R2205:P2rx7	UTSW	5	122,819,164 (GRCm39)	missense	probably damaging	1.00
R2446:P2rx7	UTSW	5	122,818,879 (GRCm39)	missense	probably benign
R3151:P2rx7	UTSW	5	122,819,329 (GRCm39)	missense	probably benign	0.00
R4052:P2rx7	UTSW	5	122,804,340 (GRCm39)	missense	probably damaging	1.00
R4883:P2rx7	UTSW	5	122,819,129 (GRCm39)	missense	probably damaging	1.00
R4930:P2rx7	UTSW	5	122,808,542 (GRCm39)	missense	probably damaging	1.00
R5194:P2rx7	UTSW	5	122,811,858 (GRCm39)	missense	probably benign	0.00
R5257:P2rx7	UTSW	5	122,819,066 (GRCm39)	missense	probably damaging	0.96
R5258:P2rx7	UTSW	5	122,819,066 (GRCm39)	missense	probably damaging	0.96
R5481:P2rx7	UTSW	5	122,818,883 (GRCm39)	missense	possibly damaging	0.89
R5656:P2rx7	UTSW	5	122,811,780 (GRCm39)	missense	probably damaging	0.99
R5738:P2rx7	UTSW	5	122,790,852 (GRCm39)	missense	probably damaging	0.98
R6587:P2rx7	UTSW	5	122,802,613 (GRCm39)	missense	probably damaging	1.00
R7098:P2rx7	UTSW	5	122,811,856 (GRCm39)	missense	probably damaging	0.99
R7120:P2rx7	UTSW	5	122,819,357 (GRCm39)	missense	probably benign
R7180:P2rx7	UTSW	5	122,818,883 (GRCm39)	missense	possibly damaging	0.89
R7358:P2rx7	UTSW	5	122,804,205 (GRCm39)	critical splice acceptor site	probably null
R7724:P2rx7	UTSW	5	122,811,436 (GRCm39)	missense	probably benign	0.07
R7932:P2rx7	UTSW	5	122,782,245 (GRCm39)	missense	probably benign	0.01
R8240:P2rx7	UTSW	5	122,793,096 (GRCm39)	missense	probably damaging	1.00
R8425:P2rx7	UTSW	5	122,808,521 (GRCm39)	missense	probably damaging	0.96
R9140:P2rx7	UTSW	5	122,790,789 (GRCm39)	critical splice acceptor site	probably null
R9331:P2rx7	UTSW	5	122,818,961 (GRCm39)	missense	probably benign	0.01
R9623:P2rx7	UTSW	5	122,790,860 (GRCm39)	missense	probably damaging	1.00
Z1177:P2rx7	UTSW	5	122,801,704 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGATGGGTCTGGAAACTTGAC -3'
(R):5'- GCATAGCACCTGTAAGCACG -3'

Sequencing Primer
(F):5'- GACTTTTTCAGAGACCCCAGATGG -3'
(R):5'- ATAGCACCTGTAAGCACGGTGTC -3'

Posted On

2014-07-14