Incidental Mutation 'IGL03372:P2rx6'
ID 420345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx6
Ensembl Gene ENSMUSG00000022758
Gene Name purinergic receptor P2X, ligand-gated ion channel, 6
Synonyms P2rxl1, P2xm
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03372
Quality Score
Status
Chromosome 16
Chromosomal Location 17379729-17389879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17385356 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O54803
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: 129,911,362 (GRCm39) A1161V probably benign Het
Alpi A G 1: 87,028,350 (GRCm39) probably benign Het
Asxl1 A T 2: 153,242,333 (GRCm39) N961I probably damaging Het
Bcl2l10 A G 9: 75,255,329 (GRCm39) I49V probably benign Het
Bod1l T C 5: 41,962,578 (GRCm39) probably benign Het
Ccl20 A G 1: 83,095,597 (GRCm39) M54V probably benign Het
Cep72 A C 13: 74,191,637 (GRCm39) L200V possibly damaging Het
Clic4 T C 4: 134,945,925 (GRCm39) D164G probably damaging Het
Col5a3 G A 9: 20,686,624 (GRCm39) P1334S unknown Het
Dab2 T C 15: 6,459,030 (GRCm39) L293P probably damaging Het
Ddx50 A T 10: 62,479,109 (GRCm39) S140T probably benign Het
Dnah6 A T 6: 73,052,833 (GRCm39) M2897K probably benign Het
Dnmt3a A G 12: 3,952,666 (GRCm39) E721G probably damaging Het
Esyt3 A T 9: 99,218,109 (GRCm39) probably benign Het
Fat4 G T 3: 38,943,283 (GRCm39) K725N possibly damaging Het
Fezf1 T C 6: 23,246,909 (GRCm39) I308V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gapdhs T C 7: 30,432,674 (GRCm39) probably benign Het
Gm10109 A T 7: 43,871,126 (GRCm39) probably benign Het
Gpd2 G A 2: 57,245,519 (GRCm39) V405I probably damaging Het
Gtf2e1 T C 16: 37,356,077 (GRCm39) probably benign Het
Iqca1 A G 1: 90,072,691 (GRCm39) I63T possibly damaging Het
Kcmf1 A C 6: 72,826,546 (GRCm39) L161R probably damaging Het
Kif19a G T 11: 114,670,044 (GRCm39) V80L probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Krtap19-2 A G 16: 88,670,774 (GRCm39) probably benign Het
Ksr2 T A 5: 117,840,783 (GRCm39) I575N possibly damaging Het
L3mbtl1 A T 2: 162,813,077 (GRCm39) probably benign Het
Larp1b A T 3: 40,978,962 (GRCm39) H6L possibly damaging Het
Map4k2 T A 19: 6,392,279 (GRCm39) probably benign Het
Mdh1b T C 1: 63,759,154 (GRCm39) H146R possibly damaging Het
Morc2a T C 11: 3,631,813 (GRCm39) probably benign Het
Mvd A G 8: 123,170,113 (GRCm39) probably benign Het
Myo7b C T 18: 32,131,654 (GRCm39) S514N probably damaging Het
Nav1 A T 1: 135,378,641 (GRCm39) I1610K probably damaging Het
Nbas T C 12: 13,584,473 (GRCm39) L2095P probably damaging Het
Nrros T C 16: 31,963,588 (GRCm39) N115S probably damaging Het
Or5p52 T C 7: 107,502,577 (GRCm39) Y218H probably damaging Het
Otud6b A C 4: 14,812,519 (GRCm39) I276R possibly damaging Het
Pan2 T A 10: 128,150,996 (GRCm39) L771Q probably benign Het
Pbrm1 T A 14: 30,806,976 (GRCm39) N1087K probably benign Het
Pcdhb5 G T 18: 37,453,713 (GRCm39) R31L probably benign Het
Proser3 A C 7: 30,242,993 (GRCm39) S195A probably damaging Het
Rad50 T C 11: 53,586,121 (GRCm39) K292E probably benign Het
Rbm27 G A 18: 42,438,781 (GRCm39) R394H probably damaging Het
Samd9l A G 6: 3,375,314 (GRCm39) I649T probably damaging Het
Skint3 G A 4: 112,113,103 (GRCm39) probably benign Het
Slc4a4 T A 5: 89,304,285 (GRCm39) L576Q probably damaging Het
Snx2 A G 18: 53,349,463 (GRCm39) D408G probably damaging Het
Taar2 T C 10: 23,817,069 (GRCm39) V203A probably benign Het
Tdrd6 C T 17: 43,936,459 (GRCm39) V1530M probably damaging Het
Tsc2 A C 17: 24,838,444 (GRCm39) L515R probably damaging Het
Unc13a A T 8: 72,108,353 (GRCm39) M500K probably damaging Het
Vmn1r75 A G 7: 11,614,496 (GRCm39) D76G probably benign Het
Whrn T C 4: 63,336,855 (GRCm39) D127G probably damaging Het
Other mutations in P2rx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02029:P2rx6 APN 16 17,385,959 (GRCm39) missense probably benign 0.00
IGL02928:P2rx6 APN 16 17,382,901 (GRCm39) unclassified probably benign
R0504:P2rx6 UTSW 16 17,385,291 (GRCm39) splice site probably benign
R0534:P2rx6 UTSW 16 17,385,768 (GRCm39) missense probably damaging 1.00
R0538:P2rx6 UTSW 16 17,386,162 (GRCm39) missense probably benign 0.08
R4232:P2rx6 UTSW 16 17,388,631 (GRCm39) missense probably damaging 1.00
R4952:P2rx6 UTSW 16 17,385,308 (GRCm39) missense probably damaging 1.00
R5108:P2rx6 UTSW 16 17,380,037 (GRCm39) missense probably damaging 1.00
R6675:P2rx6 UTSW 16 17,380,032 (GRCm39) missense probably benign 0.02
R6678:P2rx6 UTSW 16 17,388,820 (GRCm39) missense probably benign 0.00
R9016:P2rx6 UTSW 16 17,385,304 (GRCm39) missense possibly damaging 0.79
R9037:P2rx6 UTSW 16 17,388,307 (GRCm39) missense possibly damaging 0.63
R9111:P2rx6 UTSW 16 17,385,627 (GRCm39) missense probably benign 0.00
R9568:P2rx6 UTSW 16 17,385,300 (GRCm39) critical splice acceptor site probably null
Z1176:P2rx6 UTSW 16 17,385,919 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02