Mutagenetix > Incidental Mutation

Incidental Mutation 'R4930:P2rx7'

381148

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

042531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122781974-122829495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122808542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 308 (T308M)

Ref Sequence

ENSEMBL: ENSMUSP00000112440 (fasta)

Gene Model

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

AlphaFold

Q9Z1M0

Predicted Effect

probably damaging
Transcript: ENSMUST00000031425
AA Change: T308M

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

SMART Domains

Protein: ENSMUSP00000031425
Gene: ENSMUSG00000029468
AA Change: T308M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100737
AA Change: T308M

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

SMART Domains

Protein: ENSMUSP00000098303
Gene: ENSMUSG00000029468
AA Change: T308M

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 damaging
Transcript: ENSMUST00000121489
AA Change: T308M

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

SMART Domains

Protein: ENSMUSP00000112440
Gene: ENSMUSG00000029468
AA Change: T308M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199371

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

99% (88/89)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	T	12: 72,953,008 (GRCm39)	E242K	possibly damaging	Het
A930011G23Rik	A	G	5: 99,370,263 (GRCm39)	M499T	possibly damaging	Het
Abcb8	G	A	5: 24,605,779 (GRCm39)	V196M	possibly damaging	Het
Ahnak	T	C	19: 8,988,331 (GRCm39)	M3205T	possibly damaging	Het
Ankrd1	A	G	19: 36,092,433 (GRCm39)	Y265H	probably damaging	Het
Apeh	A	G	9: 107,965,024 (GRCm39)	S446P	probably benign	Het
Apip	C	A	2: 102,922,226 (GRCm39)	Y197*	probably null	Het
Arhgef11	T	G	3: 87,635,901 (GRCm39)	V925G	probably damaging	Het
Arid4b	T	C	13: 14,362,062 (GRCm39)	V929A	probably damaging	Het
Asah2	T	A	19: 32,030,306 (GRCm39)	D122V	probably benign	Het
B2m	A	T	2: 121,982,128 (GRCm39)	D116V	possibly damaging	Het
Bhmt-ps1	A	G	4: 26,369,184 (GRCm39)		noncoding transcript	Het
Cacna1g	T	A	11: 94,334,899 (GRCm39)	I803F	probably damaging	Het
Ccdc43	A	T	11: 102,581,111 (GRCm39)	V113E	probably damaging	Het
Cenpj	A	T	14: 56,772,238 (GRCm39)	Y388*	probably null	Het
Chd3	G	A	11: 69,245,034 (GRCm39)		probably benign	Het
Chil3	C	T	3: 106,071,524 (GRCm39)	D47N	possibly damaging	Het
Colgalt2	A	G	1: 152,375,710 (GRCm39)	T361A	possibly damaging	Het
Cops3	C	A	11: 59,726,193 (GRCm39)		probably benign	Het
Crb2	G	T	2: 37,673,326 (GRCm39)	G74V	probably damaging	Het
Cspg4b	G	T	13: 113,464,196 (GRCm39)	G1453C	probably damaging	Het
Cyp20a1	A	T	1: 60,405,878 (GRCm39)	Y224F	probably damaging	Het
Diaph3	A	G	14: 87,378,602 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,550,904 (GRCm39)	Y3127*	probably null	Het
Eef1akmt3	A	C	10: 126,877,224 (GRCm39)	S14A	possibly damaging	Het
Ehf	C	A	2: 103,097,202 (GRCm39)	R250L	probably damaging	Het
Eps8l1	G	A	7: 4,463,915 (GRCm39)	R13Q	possibly damaging	Het
Frem2	A	C	3: 53,563,736 (GRCm39)	V257G	possibly damaging	Het
Gc	T	C	5: 89,587,448 (GRCm39)	T259A	probably benign	Het
Gm4952	A	T	19: 12,604,376 (GRCm39)	N263Y	probably benign	Het
Gpcpd1	T	A	2: 132,388,794 (GRCm39)	H326L	probably damaging	Het
Helz	T	C	11: 107,510,994 (GRCm39)	F617L	probably damaging	Het
Hoxb4	T	C	11: 96,209,662 (GRCm39)	Y23H	probably damaging	Het
Hsf4	T	A	8: 105,999,330 (GRCm39)		probably null	Het
Ift56	A	T	6: 38,368,475 (GRCm39)	Y174F	probably damaging	Het
Ighv1-81	T	C	12: 115,883,924 (GRCm39)	D109G	probably damaging	Het
Irx4	T	C	13: 73,417,032 (GRCm39)	V476A	probably benign	Het
Katnb1	T	A	8: 95,823,922 (GRCm39)		probably null	Het
L3mbtl1	A	G	2: 162,807,692 (GRCm39)	Y490C	probably damaging	Het
Lemd2	A	G	17: 27,412,806 (GRCm39)		probably null	Het
Lrrc38	A	T	4: 143,096,438 (GRCm39)	T250S	probably damaging	Het
Map3k8	A	T	18: 4,349,215 (GRCm39)	Y34*	probably null	Het
Mgst1	T	A	6: 138,130,507 (GRCm39)	F79I	probably benign	Het
Midn	T	C	10: 79,991,189 (GRCm39)	S357P	probably benign	Het
Mmp3	T	A	9: 7,447,640 (GRCm39)	D208E	probably benign	Het
Mrps26	A	G	2: 130,406,862 (GRCm39)	E163G	probably damaging	Het
Mycbpap	A	T	11: 94,393,983 (GRCm39)	M371K	probably benign	Het
Mynn	A	C	3: 30,661,191 (GRCm39)	N91T	probably damaging	Het
Nek11	A	G	9: 105,177,265 (GRCm39)	L292P	probably damaging	Het
Nid1	A	T	13: 13,684,596 (GRCm39)	R1228W	probably damaging	Het
Nphs2	T	C	1: 156,148,499 (GRCm39)	Y121H	probably damaging	Het
Or1f19	T	G	16: 3,410,299 (GRCm39)	L13R	probably damaging	Het
Or4p7	G	A	2: 88,222,284 (GRCm39)	R231H	probably benign	Het
Or5ac22	C	A	16: 59,135,236 (GRCm39)	C178F	probably damaging	Het
Or5ap2	T	A	2: 85,680,237 (GRCm39)	I147N	probably benign	Het
Or5d38	A	C	2: 87,954,684 (GRCm39)	I215S	probably benign	Het
Or7e176	T	C	9: 20,171,313 (GRCm39)	I59T	probably damaging	Het
Or9q2	T	C	19: 13,772,915 (GRCm39)	H20R	probably benign	Het
Prdx6	C	T	1: 161,069,263 (GRCm39)		probably benign	Het
Rad54b	T	A	4: 11,615,579 (GRCm39)	D862E	probably damaging	Het
Ripor1	A	G	8: 106,343,814 (GRCm39)	Y344C	probably damaging	Het
Rnf112	T	C	11: 61,344,291 (GRCm39)	M43V	probably benign	Het
Rp1l1	A	G	14: 64,269,655 (GRCm39)	N1747S	probably benign	Het
Rps27	A	G	3: 90,120,306 (GRCm39)	V22A	probably damaging	Het
Spaca1	A	G	4: 34,044,236 (GRCm39)	V86A	possibly damaging	Het
Spdef	A	G	17: 27,937,136 (GRCm39)	Y156H	probably damaging	Het
Specc1	A	C	11: 62,009,784 (GRCm39)	E433D	possibly damaging	Het
Srpra	T	A	9: 35,126,326 (GRCm39)	F506L	probably benign	Het
Stxbp5	A	G	10: 9,636,610 (GRCm39)		probably benign	Het
Syne1	C	T	10: 5,002,777 (GRCm39)	R8046Q	probably damaging	Het
Tbx5	T	A	5: 120,021,090 (GRCm39)	S365R	probably benign	Het
Terb1	G	T	8: 105,174,580 (GRCm39)	P698Q	probably benign	Het
Tmbim7	T	A	5: 3,711,948 (GRCm39)	Y27*	probably null	Het
Tmem106c	C	A	15: 97,862,909 (GRCm39)	A60E	possibly damaging	Het
Ttc6	T	A	12: 57,720,609 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,562,714 (GRCm39)	I28747V	possibly damaging	Het
Unc13a	C	T	8: 72,083,148 (GRCm39)		probably null	Het
Wdr81	T	C	11: 75,342,750 (GRCm39)	D839G	probably benign	Het
Wfdc15a	G	C	2: 164,041,725 (GRCm39)	Q33E	probably benign	Het
Zfp456	T	C	13: 67,515,065 (GRCm39)	R214G	probably benign	Het
Zfp457	T	A	13: 67,442,164 (GRCm39)	Y137F	probably damaging	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
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'- CACTCATTCAGGTCCAGAGG -3'
(R):5'- CTCCTAGCATACCCCATGTG -3'

Sequencing Primer
(F):5'- TTTGCCCTCCATTAAGATCTAGAATG -3'
(R):5'- CCATGTGGGTAGCACAGAGC -3'

Posted On

2016-04-15