Incidental Mutation 'R4883:P2rx7'
ID 375394
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 042491-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4883 (G1)
Quality Score 211
Status Not validated
Chromosome 5
Chromosomal Location 122781974-122829495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122819129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 517 (V517E)
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

DomainStartEndE-ValueType
Pfam:P2X_receptor 11 403 1e-149 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100737
AA Change: V517E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098303
Gene: ENSMUSG00000029468
AA Change: V517E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,217,457 (GRCm39) D133G probably damaging Het
Abcg4 G T 9: 44,190,616 (GRCm39) H55Q probably damaging Het
Acaca T A 11: 84,142,116 (GRCm39) V641E probably benign Het
Adam28 T C 14: 68,875,552 (GRCm39) I229V probably damaging Het
Adgrl3 T A 5: 81,837,493 (GRCm39) I793N probably damaging Het
Akr1d1 A T 6: 37,535,336 (GRCm39) D240V possibly damaging Het
Arhgef25 T C 10: 127,018,802 (GRCm39) D548G probably benign Het
Asl A G 5: 130,042,802 (GRCm39) probably null Het
Atg14 C T 14: 47,788,771 (GRCm39) R194Q probably damaging Het
BC004004 T A 17: 29,501,166 (GRCm39) F38L probably damaging Het
Btg1 T C 10: 96,453,259 (GRCm39) F25L probably benign Het
Btrc C T 19: 45,445,026 (GRCm39) P35S probably benign Het
Calcr T A 6: 3,714,705 (GRCm39) N142Y probably damaging Het
Ccdc138 A G 10: 58,397,818 (GRCm39) I553V probably benign Het
Ccdc198 T A 14: 49,482,560 (GRCm39) N52I probably damaging Het
Cdc42 T A 4: 137,056,115 (GRCm39) N132I probably benign Het
Ces1e A G 8: 93,950,716 (GRCm39) S22P probably benign Het
Clmn G T 12: 104,748,307 (GRCm39) D413E probably benign Het
Cramp1 T C 17: 25,201,293 (GRCm39) T730A probably benign Het
Dnah5 A T 15: 28,343,784 (GRCm39) M2395L probably benign Het
Ephx1 G T 1: 180,829,488 (GRCm39) S20Y possibly damaging Het
Exoc5 T G 14: 49,289,821 (GRCm39) E19A probably damaging Het
Fam120b T C 17: 15,623,294 (GRCm39) L424P probably benign Het
Fam89a G A 8: 125,467,823 (GRCm39) T163I possibly damaging Het
Fcrl2 G A 3: 87,166,922 (GRCm39) L24F possibly damaging Het
Fgd6 G T 10: 93,975,715 (GRCm39) V1377L probably benign Het
Glud1 T A 14: 34,057,347 (GRCm39) I337K possibly damaging Het
Gm6370 T A 5: 146,430,736 (GRCm39) I303N probably benign Het
Gm7995 T C 14: 42,133,383 (GRCm39) Y88H probably damaging Het
Gsdma3 T C 11: 98,520,393 (GRCm39) probably null Het
Gsdmc2 T C 15: 63,707,614 (GRCm39) D60G probably damaging Het
Hcn1 T A 13: 118,039,431 (GRCm39) probably null Het
Hectd1 A T 12: 51,831,030 (GRCm39) C936* probably null Het
Herc4 T A 10: 63,121,433 (GRCm39) S358T probably benign Het
Hk3 A G 13: 55,158,735 (GRCm39) C515R probably benign Het
Ighg1 A G 12: 113,291,138 (GRCm39) probably benign Het
Iqgap3 T A 3: 88,014,842 (GRCm39) C853S probably benign Het
Irx4 G A 13: 73,415,750 (GRCm39) A180T probably damaging Het
Kif20b A G 19: 34,943,522 (GRCm39) T1441A probably benign Het
Lifr A G 15: 7,215,106 (GRCm39) K738E possibly damaging Het
Lmntd2 A T 7: 140,792,531 (GRCm39) S218T probably damaging Het
Lnx1 A T 5: 74,768,530 (GRCm39) W353R probably benign Het
Lrfn3 G T 7: 30,055,238 (GRCm39) P569Q possibly damaging Het
Mamstr A G 7: 45,293,838 (GRCm39) I11V probably benign Het
Med31 T C 11: 72,104,975 (GRCm39) N32S possibly damaging Het
Mob3c A T 4: 115,690,928 (GRCm39) I173F probably benign Het
Morc3 A G 16: 93,667,250 (GRCm39) probably null Het
Mphosph9 T C 5: 124,437,108 (GRCm39) K412R probably damaging Het
Mtcl3 A T 10: 29,072,537 (GRCm39) N610Y probably damaging Het
Mthfd1l C T 10: 3,957,775 (GRCm39) P271S probably benign Het
Ncam1 C T 9: 49,453,183 (GRCm39) probably null Het
Ncbp3 T A 11: 72,960,578 (GRCm39) Y279N probably damaging Het
Ncoa6 G A 2: 155,248,687 (GRCm39) T1539I probably benign Het
Nedd4 G A 9: 72,647,515 (GRCm39) probably null Het
Neil1 A G 9: 57,054,206 (GRCm39) V38A probably damaging Het
Ngf T A 3: 102,427,961 (GRCm39) F237I probably damaging Het
Nol3 A G 8: 106,005,888 (GRCm39) Q94R possibly damaging Het
Obox1 A G 7: 15,290,263 (GRCm39) N202S probably damaging Het
Odc1 T A 12: 17,597,386 (GRCm39) N29K possibly damaging Het
Or2b7 C T 13: 21,739,658 (GRCm39) R178H probably benign Het
Or2h15 T C 17: 38,441,508 (GRCm39) T192A probably damaging Het
Or4a69 C T 2: 89,312,652 (GRCm39) V276I probably benign Het
Or52a20 A C 7: 103,365,914 (GRCm39) I38L probably benign Het
Parm1 A G 5: 91,741,775 (GRCm39) T48A possibly damaging Het
Pcdh9 T A 14: 94,126,164 (GRCm39) D2V possibly damaging Het
Pgm3 G T 9: 86,451,378 (GRCm39) T92N probably damaging Het
Plcg2 G T 8: 118,333,872 (GRCm39) G882* probably null Het
Ptpn14 C T 1: 189,582,997 (GRCm39) P615S probably damaging Het
Ptprk A T 10: 28,464,928 (GRCm39) Y1244F probably damaging Het
Rere G A 4: 150,700,510 (GRCm39) A1162T probably damaging Het
Rfx2 T C 17: 57,090,747 (GRCm39) E391G probably damaging Het
Sema4c A G 1: 36,591,097 (GRCm39) V414A probably damaging Het
Serpinb10 A T 1: 107,468,681 (GRCm39) N185I probably damaging Het
Shroom3 T G 5: 93,098,993 (GRCm39) M1410R probably benign Het
Slc13a1 A T 6: 24,134,356 (GRCm39) S176T probably benign Het
Sntb1 A T 15: 55,506,198 (GRCm39) Y458* probably null Het
Sorcs1 C T 19: 50,220,741 (GRCm39) V570I probably benign Het
Sp8 T A 12: 118,812,805 (GRCm39) V220E probably damaging Het
Spry1 C T 3: 37,696,868 (GRCm39) T37M possibly damaging Het
Sspo A T 6: 48,437,756 (GRCm39) H1305L probably benign Het
Tbc1d22a A G 15: 86,381,117 (GRCm39) D509G possibly damaging Het
Tmem108 A T 9: 103,376,276 (GRCm39) V391D possibly damaging Het
Tmem132d T A 5: 128,346,366 (GRCm39) H52L possibly damaging Het
Tmem132d T A 5: 128,346,364 (GRCm39) I53F probably damaging Het
Tnnt2 A T 1: 135,775,496 (GRCm39) R87* probably null Het
Ube3a A T 7: 58,893,198 (GRCm39) M1L probably benign Het
Unc79 A G 12: 103,060,592 (GRCm39) T1119A probably damaging Het
Usf3 A T 16: 44,039,942 (GRCm39) H1474L probably damaging Het
Vcpip1 G A 1: 9,817,423 (GRCm39) T320I probably damaging Het
Vmn1r56 A G 7: 5,199,443 (GRCm39) L58P probably damaging Het
Wdr53 A T 16: 32,075,796 (GRCm39) K334* probably null Het
Zbtb40 T A 4: 136,728,241 (GRCm39) R459W probably benign Het
Zfc3h1 T A 10: 115,246,547 (GRCm39) L878Q probably damaging Het
Zfp286 T C 11: 62,671,455 (GRCm39) D206G probably benign Het
Zfp46 T A 4: 136,017,792 (GRCm39) C209S probably damaging Het
Zup1 G T 10: 33,825,038 (GRCm39) T148K probably damaging Het
Other mutations in P2rx7
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATTCAGCTGCTCCATGAAGAGG -3'
(R):5'- TGAAGCCACTATACTGCCCC -3'

Sequencing Primer
(F):5'- CATGAAGAGGTGGCCCCTAAGTC -3'
(R):5'- TTGGGGAACTCCTTCCGGATC -3'
Posted On 2016-03-17