Incidental Mutation 'R5257:P2rx7'
ID 399757
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 042855-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5257 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 122781974-122829495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122819066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 496 (E496G)
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: E496G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098303
Gene: ENSMUSG00000029468
AA Change: E496G

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
Meta Mutation Damage Score 0.1961 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 97% (63/65)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,199,684 (GRCm39) T128S possibly damaging Het
Abca16 T G 7: 120,035,992 (GRCm39) probably null Het
Acp3 T C 9: 104,186,674 (GRCm39) I266V probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Asf1b C T 8: 84,695,896 (GRCm39) T179I probably benign Het
Astn1 A G 1: 158,440,102 (GRCm39) K890R probably damaging Het
Card11 G A 5: 140,862,180 (GRCm39) P1039L possibly damaging Het
Cep43 T C 17: 8,391,775 (GRCm39) S152P probably benign Het
Chsy3 A G 18: 59,542,866 (GRCm39) E668G possibly damaging Het
Cnot8 T A 11: 58,008,348 (GRCm39) N271K possibly damaging Het
Dcaf5 G T 12: 80,444,493 (GRCm39) P200H probably damaging Het
Dkk4 C A 8: 23,117,031 (GRCm39) L215I probably damaging Het
Dnhd1 C T 7: 105,323,244 (GRCm39) T584I probably benign Het
Dock3 T C 9: 106,874,124 (GRCm39) Y449C probably damaging Het
Dsg1a A G 18: 20,453,988 (GRCm39) D31G probably damaging Het
Foxi2 C T 7: 135,012,256 (GRCm39) T48M probably benign Het
Gdf3 T C 6: 122,583,345 (GRCm39) M341V probably damaging Het
Gm21738 A G 14: 19,415,942 (GRCm38) L199S probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Igkv4-80 T A 6: 68,993,811 (GRCm39) T27S probably benign Het
Ipo9 A T 1: 135,313,173 (GRCm39) C1019S probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Ktn1 T A 14: 47,904,820 (GRCm39) H199Q probably benign Het
Kyat3 A G 3: 142,440,337 (GRCm39) M354V probably benign Het
Lbhd1 A G 19: 8,861,453 (GRCm39) probably benign Het
Llgl1 G C 11: 60,602,389 (GRCm39) probably null Het
Lyzl6 T A 11: 103,525,899 (GRCm39) I74F probably damaging Het
Mfsd4b2 T A 10: 39,798,017 (GRCm39) M113L probably benign Het
Mslnl T C 17: 25,965,139 (GRCm39) Y502H probably benign Het
Nckap5 A G 1: 125,952,245 (GRCm39) S1372P probably damaging Het
Nle1 T C 11: 82,795,772 (GRCm39) D225G probably damaging Het
Or5au1 T C 14: 52,273,341 (GRCm39) T76A possibly damaging Het
Padi4 C T 4: 140,473,515 (GRCm39) V641M probably benign Het
Phf11d T C 14: 59,590,160 (GRCm39) I221V possibly damaging Het
Pla2g2c G A 4: 138,458,856 (GRCm39) probably benign Het
Prdm16 A T 4: 154,451,671 (GRCm39) D179E possibly damaging Het
Psca A T 15: 74,588,240 (GRCm39) I56F probably damaging Het
Ptrhd1 A G 12: 4,286,481 (GRCm39) Y124C probably damaging Het
Sardh T C 2: 27,134,271 (GRCm39) T82A probably damaging Het
Sesn1 C T 10: 41,770,984 (GRCm39) P172S probably benign Het
Setd4 T C 16: 93,393,221 (GRCm39) T57A probably damaging Het
Skint5 T C 4: 113,434,859 (GRCm39) T1037A unknown Het
Slc18a3 T C 14: 32,185,777 (GRCm39) D202G probably damaging Het
Slc44a5 G A 3: 153,948,760 (GRCm39) C176Y probably damaging Het
Slc6a5 G A 7: 49,579,740 (GRCm39) V373M probably damaging Het
Sorbs3 T C 14: 70,422,483 (GRCm39) I523V probably benign Het
Sspo T C 6: 48,453,428 (GRCm39) V2872A probably damaging Het
Stard9 T A 2: 120,529,824 (GRCm39) L2027H probably damaging Het
Tex2 T A 11: 106,458,585 (GRCm39) probably benign Het
Tfdp1 C T 8: 13,419,529 (GRCm39) T86M possibly damaging Het
Ttc6 A T 12: 57,749,061 (GRCm39) D1331V possibly damaging Het
Vps13b A G 15: 35,794,567 (GRCm39) T2326A possibly damaging Het
Wnk1 A G 6: 120,014,149 (GRCm39) S149P probably benign Het
Zfp521 G A 18: 13,980,035 (GRCm39) S126F probably damaging Het
Zfp958 A T 8: 4,678,456 (GRCm39) E160D probably benign 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
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
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'- TGATGGGTCTGGAAACTTGAC -3'
(R):5'- GGCATAGCACCTGTAAGCAC -3'

Sequencing Primer
(F):5'- GACTTTTTCAGAGACCCCAGATGG -3'
(R):5'- ATAGCACCTGTAAGCACGGTGTC -3'
Posted On 2016-07-06