Incidental Mutation 'IGL03372:P2rx6'
ID420345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx6
Ensembl Gene ENSMUSG00000022758
Gene Namepurinergic receptor P2X, ligand-gated ion channel, 6
SynonymsP2rxl1, P2xm
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03372
Quality Score
Status
Chromosome16
Chromosomal Location17561885-17577800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 17567492 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 150 (E150K)
Ref Sequence ENSEMBL: ENSMUSP00000130079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000168383] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231806]
Predicted Effect probably damaging
Transcript: ENSMUST00000023441
AA Change: E150K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758
AA Change: E150K

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 385 7.9e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168383
AA Change: E150K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130079
Gene: ENSMUSG00000022758
AA Change: E150K

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 266 4.2e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171002
AA Change: E150K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758
AA Change: E150K

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 197 1e-65 PFAM
Pfam:P2X_receptor 185 362 7e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172164
SMART Domains Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756

DomainStartEndE-ValueType
Pfam:AA_permease_2 37 498 2.6e-46 PFAM
Pfam:AA_permease 41 423 4.5e-36 PFAM
transmembrane domain 508 530 N/A INTRINSIC
Pfam:AA_permease_C 540 590 1.5e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000231806
AA Change: E150K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutant mice exhibit a significant increase in thermal response latency during hot plate testing, and are resistant to metrazol-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 130,017,569 A1161V probably benign Het
Alpi A G 1: 87,100,628 probably benign Het
Asxl1 A T 2: 153,400,413 N961I probably damaging Het
Bcl2l10 A G 9: 75,348,047 I49V probably benign Het
Bod1l T C 5: 41,805,235 probably benign Het
Ccl20 A G 1: 83,117,876 M54V probably benign Het
Cep72 A C 13: 74,043,518 L200V possibly damaging Het
Clic4 T C 4: 135,218,614 D164G probably damaging Het
Col5a3 G A 9: 20,775,328 P1334S unknown Het
Dab2 T C 15: 6,429,549 L293P probably damaging Het
Ddx50 A T 10: 62,643,330 S140T probably benign Het
Dnah6 A T 6: 73,075,850 M2897K probably benign Het
Dnmt3a A G 12: 3,902,666 E721G probably damaging Het
Esyt3 A T 9: 99,336,056 probably benign Het
Fat4 G T 3: 38,889,134 K725N possibly damaging Het
Fezf1 T C 6: 23,246,910 I308V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gapdhs T C 7: 30,733,249 probably benign Het
Gm10109 A T 7: 44,221,702 probably benign Het
Gpd2 G A 2: 57,355,507 V405I probably damaging Het
Gtf2e1 T C 16: 37,535,715 probably benign Het
Iqca A G 1: 90,144,969 I63T possibly damaging Het
Kcmf1 A C 6: 72,849,563 L161R probably damaging Het
Kif19a G T 11: 114,779,218 V80L probably damaging Het
Kif21a A T 15: 90,956,376 M1179K probably benign Het
Krtap19-2 A G 16: 88,873,886 probably benign Het
Ksr2 T A 5: 117,702,718 I575N possibly damaging Het
L3mbtl1 A T 2: 162,971,157 probably benign Het
Larp1b A T 3: 41,024,527 H6L possibly damaging Het
Map4k2 T A 19: 6,342,249 probably benign Het
Mdh1b T C 1: 63,719,995 H146R possibly damaging Het
Morc2a T C 11: 3,681,813 probably benign Het
Mvd A G 8: 122,443,374 probably benign Het
Myo7b C T 18: 31,998,601 S514N probably damaging Het
Nav1 A T 1: 135,450,903 I1610K probably damaging Het
Nbas T C 12: 13,534,472 L2095P probably damaging Het
Nrros T C 16: 32,144,770 N115S probably damaging Het
Olfr472 T C 7: 107,903,370 Y218H probably damaging Het
Otud6b A C 4: 14,812,519 I276R possibly damaging Het
Pan2 T A 10: 128,315,127 L771Q probably benign Het
Pbrm1 T A 14: 31,085,019 N1087K probably benign Het
Pcdhb5 G T 18: 37,320,660 R31L probably benign Het
Proser3 A C 7: 30,543,568 S195A probably damaging Het
Rad50 T C 11: 53,695,294 K292E probably benign Het
Rbm27 G A 18: 42,305,716 R394H probably damaging Het
Samd9l A G 6: 3,375,314 I649T probably damaging Het
Skint3 G A 4: 112,255,906 probably benign Het
Slc4a4 T A 5: 89,156,426 L576Q probably damaging Het
Snx2 A G 18: 53,216,391 D408G probably damaging Het
Taar2 T C 10: 23,941,171 V203A probably benign Het
Tdrd6 C T 17: 43,625,568 V1530M probably damaging Het
Tsc2 A C 17: 24,619,470 L515R probably damaging Het
Unc13a A T 8: 71,655,709 M500K probably damaging Het
Vmn1r75 A G 7: 11,880,569 D76G probably benign Het
Whrn T C 4: 63,418,618 D127G probably damaging Het
Other mutations in P2rx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02029:P2rx6 APN 16 17568095 missense probably benign 0.00
IGL02928:P2rx6 APN 16 17565037 unclassified probably benign
R0504:P2rx6 UTSW 16 17567427 splice site probably benign
R0534:P2rx6 UTSW 16 17567904 missense probably damaging 1.00
R0538:P2rx6 UTSW 16 17568298 missense probably benign 0.08
R4232:P2rx6 UTSW 16 17570767 missense probably damaging 1.00
R4952:P2rx6 UTSW 16 17567444 missense probably damaging 1.00
R5108:P2rx6 UTSW 16 17562173 missense probably damaging 1.00
R6675:P2rx6 UTSW 16 17562168 missense probably benign 0.02
R6678:P2rx6 UTSW 16 17570956 missense probably benign 0.00
Z1176:P2rx6 UTSW 16 17568055 missense probably damaging 1.00
Posted On2016-08-02