Incidental Mutation 'IGL03102:P2rx7'
ID 418768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx7
Ensembl Gene ENSMUSG00000029468
Gene Name purinergic receptor P2X, ligand-gated ion channel, 7
Synonyms P2X(7), P2X7R, P2X7 receptor
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03102
Quality Score
Status
Chromosome 5
Chromosomal Location 122781974-122829495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122801668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 188 (F188L)
Ref Sequence ENSEMBL: ENSMUSP00000112440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031425] [ENSMUST00000100737] [ENSMUST00000121489]
AlphaFold Q9Z1M0
Predicted Effect probably benign
Transcript: ENSMUST00000031425
AA Change: F188L

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031425
Gene: ENSMUSG00000029468
AA Change: F188L

DomainStartEndE-ValueType
Pfam:P2X_receptor 11 403 1e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100737
AA Change: F188L

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000098303
Gene: ENSMUSG00000029468
AA Change: F188L

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 possibly damaging
Transcript: ENSMUST00000121489
AA Change: F188L

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112440
Gene: ENSMUSG00000029468
AA Change: F188L

DomainStartEndE-ValueType
Pfam:P2X_receptor 11 403 3.5e-149 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199371
Coding Region Coverage
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 T C 7: 80,744,804 (GRCm39) probably null Het
Alyref G A 11: 120,488,591 (GRCm39) P79L possibly damaging Het
Arhgap28 T C 17: 68,203,231 (GRCm39) D74G probably damaging Het
Atp1a4 T A 1: 172,058,718 (GRCm39) D909V probably damaging Het
Cdc5l A T 17: 45,718,857 (GRCm39) D586E probably damaging Het
Chd3 G T 11: 69,252,022 (GRCm39) Y79* probably null Het
Cnot3 C A 7: 3,659,155 (GRCm39) S467* probably null Het
Col18a1 A T 10: 76,903,457 (GRCm39) probably benign Het
Col19a1 C A 1: 24,367,134 (GRCm39) G483C probably damaging Het
Col5a3 A C 9: 20,715,931 (GRCm39) probably null Het
Dctn5 A T 7: 121,732,382 (GRCm39) N9I probably benign Het
Emc10 T A 7: 44,141,413 (GRCm39) N225I probably damaging Het
Fam219b A G 9: 57,447,981 (GRCm39) Y158C probably damaging Het
Fras1 T C 5: 96,874,394 (GRCm39) V2273A probably benign Het
Frem3 T A 8: 81,339,661 (GRCm39) H651Q possibly damaging Het
Gm4076 T A 13: 85,275,438 (GRCm39) noncoding transcript Het
Gpr35 A T 1: 92,910,299 (GRCm39) T4S probably benign Het
Ifnab T G 4: 88,609,062 (GRCm39) T135P possibly damaging Het
Jag1 T C 2: 136,926,608 (GRCm39) I979V probably benign Het
Kank1 G T 19: 25,403,282 (GRCm39) M1097I probably damaging Het
Kcnq3 A G 15: 65,900,637 (GRCm39) V206A probably damaging Het
Kel T C 6: 41,679,917 (GRCm39) K91R probably benign Het
Kirrel1 G T 3: 86,990,807 (GRCm39) R672S probably damaging Het
Kmt2d A G 15: 98,753,424 (GRCm39) M143T probably benign Het
Kpna1 A G 16: 35,833,289 (GRCm39) I122V probably damaging Het
Lrpap1 A G 5: 35,250,694 (GRCm39) S353P probably damaging Het
Mtfr1l T A 4: 134,259,543 (GRCm39) Q11L probably damaging Het
Muc5b G A 7: 141,416,806 (GRCm39) V3251M probably benign Het
Mup8 C T 4: 60,219,746 (GRCm39) D174N probably benign Het
Nup155 A T 15: 8,176,768 (GRCm39) E1015D probably benign Het
Or10ak14 C A 4: 118,611,131 (GRCm39) L201F probably benign Het
Or9i14 T C 19: 13,792,735 (GRCm39) Y73C probably damaging Het
Pacrg A G 17: 11,058,719 (GRCm39) F13L probably benign Het
Palb2 A T 7: 121,723,722 (GRCm39) S676T possibly damaging Het
Pdia6 T A 12: 17,331,040 (GRCm39) probably null Het
Pfkm A T 15: 98,024,266 (GRCm39) I425F possibly damaging Het
Pikfyve C T 1: 65,291,626 (GRCm39) R1282* probably null Het
Pole C T 5: 110,444,939 (GRCm39) L432F probably damaging Het
Pramel25 T C 4: 143,520,116 (GRCm39) V120A possibly damaging Het
Prr5 G T 15: 84,650,508 (GRCm39) probably benign Het
Prxl2b T C 4: 154,981,058 (GRCm39) probably benign Het
Psat1 A G 19: 15,883,487 (GRCm39) Y343H probably damaging Het
Ptprj C T 2: 90,309,312 (GRCm39) R51K probably benign Het
Qars1 A G 9: 108,386,118 (GRCm39) D103G probably benign Het
Rims2 A T 15: 39,322,989 (GRCm39) I768F possibly damaging Het
Robo4 T A 9: 37,315,481 (GRCm39) V275E probably damaging Het
Ryr2 A G 13: 11,650,468 (GRCm39) probably benign Het
Sez6l T C 5: 112,623,269 (GRCm39) H94R probably benign Het
Slco1c1 T A 6: 141,490,553 (GRCm39) N211K possibly damaging Het
Strbp T C 2: 37,476,515 (GRCm39) probably benign Het
Tceanc2 T A 4: 107,004,878 (GRCm39) H90L probably damaging Het
Tdrkh A T 3: 94,331,844 (GRCm39) T90S possibly damaging Het
Tiam2 A G 17: 3,559,823 (GRCm39) D1288G probably damaging Het
Tln1 T C 4: 43,532,861 (GRCm39) D2447G possibly damaging Het
Tmem63c G A 12: 87,112,323 (GRCm39) V141M probably benign Het
Tpp2 T A 1: 43,995,649 (GRCm39) V268E probably damaging Het
Tprkb T A 6: 85,901,400 (GRCm39) C13S probably benign Het
Traf3ip3 T C 1: 192,877,385 (GRCm39) T184A probably damaging Het
Trpc6 T A 9: 8,649,302 (GRCm39) M504K probably benign Het
Ttn G T 2: 76,597,567 (GRCm39) S18036* probably null Het
Wdfy4 A T 14: 32,688,392 (GRCm39) C2914S probably damaging Het
Ylpm1 T A 12: 85,096,032 (GRCm39) probably benign Het
Zfp644 T C 5: 106,785,134 (GRCm39) H471R probably damaging Het
Zfp747l1 T C 7: 126,983,951 (GRCm39) T384A probably benign Het
Zfyve16 C T 13: 92,648,325 (GRCm39) E910K possibly 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
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
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
Posted On 2016-08-02