Incidental Mutation 'R0534:P2rx6'
ID 49390
Institutional Source Beutler Lab
Gene Symbol P2rx6
Ensembl Gene ENSMUSG00000022758
Gene Name purinergic receptor P2X, ligand-gated ion channel, 6
Synonyms P2rxl1, P2xm
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0534 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17561885-17577800 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 17567904 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 199 (T199P)
Ref Sequence ENSEMBL: ENSMUSP00000156201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000063544] [ENSMUST00000168383] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231806]
AlphaFold O54803
Predicted Effect probably damaging
Transcript: ENSMUST00000023441
AA Change: T199P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758
AA Change: T199P

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 385 7.9e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063544
SMART Domains Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756

DomainStartEndE-ValueType
Pfam:AA_permease_2 37 436 1.4e-49 PFAM
Pfam:AA_permease 41 426 9.4e-38 PFAM
transmembrane domain 476 498 N/A INTRINSIC
transmembrane domain 508 530 N/A INTRINSIC
Pfam:AA_permease_C 540 590 1.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168383
AA Change: T199P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130079
Gene: ENSMUSG00000022758
AA Change: T199P

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 266 4.2e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171002
SMART Domains Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758

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: T199P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7631 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik T C 10: 116,112,802 E273G possibly damaging Het
4933425L06Rik C A 13: 105,082,254 S32* probably null Het
Cand2 A G 6: 115,787,236 M324V probably damaging Het
Cap1 C T 4: 122,862,719 V340M probably benign Het
Ccdc110 T C 8: 45,935,138 V44A possibly damaging Het
Cps1 A G 1: 67,143,900 D139G probably benign Het
Cwc27 T A 13: 104,631,616 E457V unknown Het
Cxxc1 C T 18: 74,218,891 P280S probably benign Het
Dopey2 T A 16: 93,762,505 L595Q probably benign Het
Dscam G T 16: 96,652,172 S1292R possibly damaging Het
E2f4 C A 8: 105,304,219 F353L probably damaging Het
Ep300 A G 15: 81,600,896 probably benign Het
Fads1 C T 19: 10,183,065 P5L probably benign Het
Fign T A 2: 63,980,791 H45L probably damaging Het
Flcn T A 11: 59,794,199 probably benign Het
Gm5141 A T 13: 62,774,594 F254I probably damaging Het
Gpbp1l1 T A 4: 116,591,268 N402K probably damaging Het
Gpr37 A T 6: 25,669,824 C340* probably null Het
Gtf3c2 A T 5: 31,158,132 probably benign Het
Hcfc2 T A 10: 82,738,408 F139I probably damaging Het
Hectd4 T C 5: 121,348,476 L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 45,337,235 probably benign Het
Igf2bp1 A G 11: 95,966,796 probably benign Het
Igsf9b T G 9: 27,333,062 probably null Het
Il23r G A 6: 67,426,588 A443V probably benign Het
Kcnv1 A G 15: 45,109,249 F413L probably damaging Het
Lipe C A 7: 25,388,186 A150S possibly damaging Het
Lrrcc1 T C 3: 14,557,273 S557P probably damaging Het
Mrpl54 C A 10: 81,266,853 W13L probably damaging Het
Myrf G C 19: 10,218,162 T428S probably benign Het
Npy1r C A 8: 66,705,018 Q327K probably damaging Het
Olfr64 C T 7: 103,893,231 R168H probably benign Het
Osbpl10 C T 9: 115,167,178 L139F probably damaging Het
Phyhip A T 14: 70,461,759 M1L possibly damaging Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Psmc1 T A 12: 100,120,130 I342N possibly damaging Het
Reln A T 5: 21,947,408 D2353E probably damaging Het
Rmdn3 T C 2: 119,146,370 E294G probably benign Het
Scnn1g A G 7: 121,767,424 M615V probably benign Het
Shcbp1l T A 1: 153,428,568 D124E possibly damaging Het
Sipa1l1 T C 12: 82,425,280 S1345P possibly damaging Het
Soga3 T A 10: 29,180,956 probably benign Het
St5 A T 7: 109,541,428 V197D probably damaging Het
Timp4 A G 6: 115,249,841 Y114H probably damaging Het
Tlr9 T A 9: 106,224,887 L459Q probably benign Het
Tmem104 C A 11: 115,200,828 T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 111,480,540 probably benign Het
Zfp622 A T 15: 25,984,568 I7F possibly 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
IGL03372:P2rx6 APN 16 17567492 missense probably damaging 0.99
R0504:P2rx6 UTSW 16 17567427 splice site probably benign
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
R9016:P2rx6 UTSW 16 17567440 missense possibly damaging 0.79
R9037:P2rx6 UTSW 16 17570443 missense possibly damaging 0.63
R9111:P2rx6 UTSW 16 17567763 missense probably benign 0.00
R9568:P2rx6 UTSW 16 17567436 critical splice acceptor site probably null
Z1176:P2rx6 UTSW 16 17568055 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTGTTCAACGGAACCCACAG -3'
(R):5'- TGGTGTATGGTCCTGAGAACCTGC -3'

Sequencing Primer
(F):5'- ACAGGACCTGTGAGATCTGG -3'
(R):5'- TGAGCTGCACAGGACACTG -3'
Posted On 2013-06-12