Incidental Mutation 'R9016:P2rx6'
ID 686026
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 068846-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9016 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17379729-17389879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17385304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 132 (H132Q)
Ref Sequence ENSEMBL: ENSMUSP00000023441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231806]
AlphaFold O54803
Predicted Effect possibly damaging
Transcript: ENSMUST00000023441
AA Change: H132Q

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758
AA Change: H132Q

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 385 7.9e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171002
AA Change: H132Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758
AA Change: H132Q

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 possibly damaging
Transcript: ENSMUST00000231806
AA Change: H132Q

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 C A 18: 74,932,154 (GRCm39) S264R probably damaging Het
Agap1 T C 1: 89,694,188 (GRCm39) probably null Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Apob C T 12: 8,035,408 (GRCm39) silent Het
Atg2a G C 19: 6,300,111 (GRCm39) A640P probably damaging Het
AW209491 G A 13: 14,812,193 (GRCm39) V349M probably damaging Het
Bmpr2 C T 1: 59,854,460 (GRCm39) T103I probably damaging Het
Btaf1 A C 19: 36,971,705 (GRCm39) E1231D probably benign Het
Btbd7 T C 12: 102,751,417 (GRCm39) R1116G probably damaging Het
Catsperg1 A T 7: 28,891,162 (GRCm39) M627K probably benign Het
Cdk7 G A 13: 100,854,126 (GRCm39) T121I probably benign Het
Csmd3 T A 15: 47,522,438 (GRCm39) T1833S Het
Dapk3 A T 10: 81,028,266 (GRCm39) R279W probably damaging Het
Dennd2b A C 7: 109,139,642 (GRCm39) D645E possibly damaging Het
Dnah9 T C 11: 65,998,856 (GRCm39) E1064G probably damaging Het
Dner T C 1: 84,673,226 (GRCm39) E75G probably benign Het
Dnmt1 T C 9: 20,847,855 (GRCm39) E229G possibly damaging Het
Fam171a1 G A 2: 3,227,434 (GRCm39) A856T probably benign Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fen1 A T 19: 10,178,306 (GRCm39) V46D probably damaging Het
Ffar3 T C 7: 30,554,454 (GRCm39) R289G probably damaging Het
Fhod3 G A 18: 25,243,136 (GRCm39) E1165K possibly damaging Het
Fras1 A T 5: 96,783,923 (GRCm39) H809L probably damaging Het
Gbp7 A T 3: 142,249,870 (GRCm39) E447V probably benign Het
Gja8 T C 3: 96,827,521 (GRCm39) D47G probably damaging Het
Gm5795 A G 14: 14,883,574 (GRCm39) K144E probably benign Het
Gm7298 A C 6: 121,758,800 (GRCm39) Q1139H possibly damaging Het
Gpa33 A T 1: 165,992,730 (GRCm39) Y281F probably damaging Het
H2-M10.5 G A 17: 37,084,226 (GRCm39) E63K possibly damaging Het
Hgf T C 5: 16,823,956 (GRCm39) W718R probably damaging Het
Ifna5 C G 4: 88,754,046 (GRCm39) D95E probably benign Het
Ifnar2 T C 16: 91,201,073 (GRCm39) L438P possibly damaging Het
Ints1 T C 5: 139,744,326 (GRCm39) T1479A probably benign Het
Kif1a C T 1: 92,953,395 (GRCm39) R1263H probably damaging Het
Ltbp2 T C 12: 84,856,467 (GRCm39) T686A probably benign Het
Med12l A T 3: 59,163,294 (GRCm39) E1307V probably damaging Het
Mtcl1 T A 17: 66,651,062 (GRCm39) T1468S probably damaging Het
Myo9a C T 9: 59,775,427 (GRCm39) Q1013* probably null Het
Nckap5 T C 1: 126,623,491 (GRCm39) M1V probably null Het
Nos3 G T 5: 24,588,639 (GRCm39) V1122F probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Odad1 T G 7: 45,585,988 (GRCm39) C128W probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or52n4 A T 7: 104,293,828 (GRCm39) C250* probably null Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
Pakap T C 4: 57,637,857 (GRCm39) C12R unknown Het
Pde6b T A 5: 108,536,592 (GRCm39) M96K possibly damaging Het
Polq T A 16: 36,843,159 (GRCm39) L231Q probably damaging Het
Pramel23 T C 4: 143,423,899 (GRCm39) I297V possibly damaging Het
Prrc2a G A 17: 35,378,844 (GRCm39) T399I unknown Het
Rapsn A G 2: 90,867,172 (GRCm39) D158G probably damaging Het
Rcor1 T A 12: 111,047,933 (GRCm39) probably benign Het
Sema4d G T 13: 51,867,794 (GRCm39) P186T probably damaging Het
Skic2 A C 17: 35,063,640 (GRCm39) L601R probably damaging Het
Slc4a7 G A 14: 14,773,241 (GRCm38) R737Q probably damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Sox15 T G 11: 69,546,529 (GRCm39) Y111D probably damaging Het
Spen C T 4: 141,200,938 (GRCm39) C2563Y probably damaging Het
Taf8 A T 17: 47,807,527 (GRCm39) D153E probably damaging Het
Tet3 G A 6: 83,345,253 (GRCm39) A1728V probably damaging Het
Tmem232 A T 17: 65,737,778 (GRCm39) D427E probably benign Het
Tmem53 T C 4: 117,125,451 (GRCm39) I188T probably benign Het
Tnc T G 4: 63,935,331 (GRCm39) D535A probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Tnik G A 3: 28,692,544 (GRCm39) G867R probably damaging Het
Uba3 A T 6: 97,162,694 (GRCm39) C367* probably null Het
Vmn1r235 G T 17: 21,481,969 (GRCm39) S98I possibly damaging Het
Vmn2r15 T C 5: 109,442,109 (GRCm39) E108G probably benign Het
Xrra1 T A 7: 99,525,462 (GRCm39) I127N probably benign Het
Zc3h18 G A 8: 123,129,963 (GRCm39) R447Q unknown Het
Zcwpw1 C A 5: 137,798,340 (GRCm39) P179Q probably damaging Het
Zfp526 C T 7: 24,925,264 (GRCm39) H508Y probably damaging Het
Zfp583 T C 7: 6,320,404 (GRCm39) K203E probably benign Het
Zfp979 A G 4: 147,697,504 (GRCm39) C402R possibly damaging Het
Zxdc A G 6: 90,359,254 (GRCm39) T629A 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
IGL03372:P2rx6 APN 16 17,385,356 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GATGGCTTTTCCCTCCTAGG -3'
(R):5'- TCTCCATGGATCCTGAGGAG -3'

Sequencing Primer
(F):5'- ATGGCTTTTCCCTCCTAGGTTGTAG -3'
(R):5'- GGATGCTGCACAGACAAGCTC -3'
Posted On 2021-10-11