Mutagenetix > Incidental Mutation

Incidental Mutation 'R7180:P2rx7'

558899

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

045233-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7180 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122781974-122829495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122818883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 435 (D435G)

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

possibly damaging
Transcript: ENSMUST00000100737
AA Change: D435G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098303
Gene: ENSMUSG00000029468
AA Change: D435G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	C	4: 49,381,803 (GRCm39)	Y196*	probably null	Het
Agrn	C	T	4: 156,256,296 (GRCm39)	R1405H	probably benign	Het
Agtpbp1	G	A	13: 59,613,852 (GRCm39)	H1030Y	probably benign	Het
Ankrd37	C	T	8: 46,452,891 (GRCm39)		probably benign	Het
Ap1g2	G	C	14: 55,341,908 (GRCm39)	P218R	probably damaging	Het
Ap2a1	C	T	7: 44,573,228 (GRCm39)		probably null	Het
Apc2	T	A	10: 80,146,990 (GRCm39)	D681E	possibly damaging	Het
Arhgef5	T	A	6: 43,252,142 (GRCm39)	N964K	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Ccnf	T	A	17: 24,442,889 (GRCm39)	M773L	probably benign	Het
Ces1e	A	C	8: 93,941,772 (GRCm39)	S234A	probably damaging	Het
Ces1g	T	A	8: 94,029,576 (GRCm39)	E552V	probably benign	Het
Ctcfl	A	T	2: 172,947,770 (GRCm39)		probably null	Het
Dkk2	T	A	3: 131,791,953 (GRCm39)	S54T	probably damaging	Het
Dll1	A	G	17: 15,595,131 (GRCm39)	S49P	probably benign	Het
Dscam	C	A	16: 96,626,764 (GRCm39)	A382S	probably damaging	Het
Eif4a3l1	T	A	6: 136,306,535 (GRCm39)	I332N	probably damaging	Het
Eif5b	A	T	1: 38,088,155 (GRCm39)	M1020L	probably damaging	Het
Elp1	A	T	4: 56,796,535 (GRCm39)	S118R	probably damaging	Het
Enpp4	T	C	17: 44,412,928 (GRCm39)	D202G	probably benign	Het
Eps8	A	T	6: 137,456,072 (GRCm39)	I803N	possibly damaging	Het
Etv2	C	A	7: 30,335,074 (GRCm39)	G28V	probably damaging	Het
Fadd	A	T	7: 144,134,522 (GRCm39)	V121E	probably damaging	Het
Fam149b	T	C	14: 20,431,853 (GRCm39)	Y545H	probably benign	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Flg2	T	C	3: 93,110,140 (GRCm39)	S723P	unknown	Het
Gm4884	C	T	7: 40,693,633 (GRCm39)	T534I	possibly damaging	Het
Gpbar1	A	T	1: 74,317,792 (GRCm39)	I12F	possibly damaging	Het
Gpr151	A	T	18: 42,712,021 (GRCm39)	L219*	probably null	Het
Hdgfl2	T	A	17: 56,404,532 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,446,405 (GRCm39)	M200V	probably benign	Het
Idua	A	G	5: 108,828,761 (GRCm39)	N335S	probably benign	Het
Ifit1bl1	A	T	19: 34,571,302 (GRCm39)	F385Y	probably damaging	Het
Ift172	T	C	5: 31,411,606 (GRCm39)	D1624G	probably damaging	Het
Igsf9b	A	T	9: 27,233,964 (GRCm39)	T388S	possibly damaging	Het
Insyn2b	A	G	11: 34,369,873 (GRCm39)	K526E	probably damaging	Het
Jak2	A	G	19: 29,259,811 (GRCm39)	I237V	probably benign	Het
Kat5	C	A	19: 5,653,989 (GRCm39)	K398N	probably damaging	Het
Lmbrd2	T	A	15: 9,175,283 (GRCm39)	V398E	possibly damaging	Het
Lrp1	T	C	10: 127,392,834 (GRCm39)	N2744D	probably damaging	Het
Lrrd1	T	C	5: 3,901,459 (GRCm39)	I588T	probably damaging	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Magi1	T	A	6: 93,792,731 (GRCm39)	D169V	probably benign	Het
Mpdz	T	C	4: 81,253,988 (GRCm39)	E1048G	probably damaging	Het
Myh9	T	C	15: 77,692,110 (GRCm39)	I150V	probably benign	Het
Nckap1	A	T	2: 80,337,236 (GRCm39)	M1006K	probably benign	Het
Nkain1	C	T	4: 130,533,925 (GRCm38)	V132I	probably benign	Het
Npy6r	A	T	18: 44,409,223 (GRCm39)	M215L	probably benign	Het
Nr3c2	A	T	8: 77,635,592 (GRCm39)	Q231L	probably damaging	Het
Obox5	C	T	7: 15,491,849 (GRCm39)	P88L	probably benign	Het
Or10a48	A	G	7: 108,425,186 (GRCm39)	S7P	probably damaging	Het
Or9k7	T	C	10: 130,046,811 (GRCm39)	T63A	probably benign	Het
Pdzd2	T	A	15: 12,376,209 (GRCm39)	S1309C	probably damaging	Het
Pex5l	C	T	3: 33,078,840 (GRCm39)		probably null	Het
Pip	T	A	6: 41,824,565 (GRCm39)	C18S	probably damaging	Het
Pla2g7	C	T	17: 43,909,967 (GRCm39)	T157M	probably damaging	Het
Plce1	A	G	19: 38,768,229 (GRCm39)	Y2168C	probably damaging	Het
Rgs2	T	C	1: 143,877,886 (GRCm39)	T137A	probably benign	Het
Rpl32	T	A	6: 115,784,768 (GRCm39)	I31F	possibly damaging	Het
Ryr2	T	C	13: 11,701,864 (GRCm39)	Y2931C	probably damaging	Het
Slc4a4	G	A	5: 89,194,095 (GRCm39)	E192K	probably damaging	Het
Slc4a7	G	A	14: 14,765,580 (GRCm38)	A521T	probably damaging	Het
Smchd1	T	C	17: 71,701,818 (GRCm39)	E1058G	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Ssc5d	A	G	7: 4,939,600 (GRCm39)	T679A	probably benign	Het
Tas2r130	A	C	6: 131,607,211 (GRCm39)	S195A	probably benign	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Terf2ip	G	T	8: 112,738,052 (GRCm39)		probably benign	Het
Tm6sf2	G	A	8: 70,528,656 (GRCm39)	R136K	probably benign	Het
Tmprss15	A	G	16: 78,764,886 (GRCm39)	L858P	probably damaging	Het
Topaz1	A	G	9: 122,626,770 (GRCm39)	D1466G	possibly damaging	Het
Trip4	A	T	9: 65,764,627 (GRCm39)	L446Q	probably damaging	Het
Trpv3	G	T	11: 73,168,818 (GRCm39)	V93L	probably benign	Het
Ubl4b	A	T	3: 107,461,962 (GRCm39)	H99Q	probably damaging	Het
Unc45a	A	T	7: 79,979,569 (GRCm39)		probably null	Het
Vmn1r47	G	T	6: 89,999,335 (GRCm39)	A156S	probably damaging	Het
Vmn2r33	T	A	7: 7,566,896 (GRCm39)	H72L	probably benign	Het
Zeb1	G	A	18: 5,767,867 (GRCm39)	V793M	possibly damaging	Het
Zfp628	C	A	7: 4,924,063 (GRCm39)	Q762K	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
R1905:P2rx7	UTSW	5	122,819,015 (GRCm39)	missense	probably damaging	1.00
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
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'- GTTCTTAGCAGGCTTAACAGC -3'
(R):5'- GCACGAGCTTATGGAAGAGC -3'

Sequencing Primer
(F):5'- TTAACAGCAGCCCAGCCCTG -3'
(R):5'- TTCCTCCGGCAGCACAG -3'

Posted On

2019-06-26