Incidental Mutation 'R4232:P2rx6'
ID 320932
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 041051-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4232 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17379729-17389879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17388631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 335 (L335P)
Ref Sequence ENSEMBL: ENSMUSP00000132727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000063544] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231283] [ENSMUST00000232226] [ENSMUST00000232186] [ENSMUST00000231645] [ENSMUST00000231806] [ENSMUST00000231552] [ENSMUST00000231615] [ENSMUST00000232336] [ENSMUST00000232385]
AlphaFold O54803
Predicted Effect probably damaging
Transcript: ENSMUST00000023441
AA Change: L362P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758
AA Change: L362P

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 noncoding transcript
Transcript: ENSMUST00000116648
Predicted Effect probably damaging
Transcript: ENSMUST00000171002
AA Change: L335P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758
AA Change: L335P

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 benign
Transcript: ENSMUST00000231283
Predicted Effect probably benign
Transcript: ENSMUST00000232226
Predicted Effect probably benign
Transcript: ENSMUST00000232186
Predicted Effect probably benign
Transcript: ENSMUST00000231645
Predicted Effect probably benign
Transcript: ENSMUST00000231806
Predicted Effect probably benign
Transcript: ENSMUST00000231552
Predicted Effect probably benign
Transcript: ENSMUST00000231615
Predicted Effect probably benign
Transcript: ENSMUST00000232336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232429
Predicted Effect probably benign
Transcript: ENSMUST00000232385
Meta Mutation Damage Score 0.7382 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Aven A G 2: 112,458,113 (GRCm39) D167G probably damaging Het
Celsr2 A G 3: 108,321,088 (GRCm39) F575L probably benign Het
Cflar A T 1: 58,780,152 (GRCm39) Q249L possibly damaging Het
Col7a1 G A 9: 108,801,881 (GRCm39) probably null Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah1 T C 14: 31,026,873 (GRCm39) N717S probably benign Het
Dnaja3 T A 16: 4,517,735 (GRCm39) N322K possibly damaging Het
Dnajb3 A G 1: 88,132,974 (GRCm39) S143P possibly damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Dvl3 A G 16: 20,342,983 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,493,661 (GRCm39) D177E possibly damaging Het
Galnt7 T C 8: 58,106,000 (GRCm39) I5V probably benign Het
Garin3 C A 11: 46,298,232 (GRCm39) T512K possibly damaging Het
Helz2 A T 2: 180,871,695 (GRCm39) L2639Q probably damaging Het
Hnrnpr T C 4: 136,066,500 (GRCm39) M394T probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kif14 T A 1: 136,444,101 (GRCm39) C1364* probably null Het
Macf1 T C 4: 123,326,185 (GRCm39) E5104G probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mrtfa T A 15: 80,907,796 (GRCm39) K29M probably damaging Het
Mtbp CATGA CATGAATGA 15: 55,484,073 (GRCm39) probably null Het
Nfkb1 A G 3: 135,309,531 (GRCm39) V521A probably damaging Het
Or2b7 T C 13: 21,739,631 (GRCm39) D187G probably damaging Het
Or7g32 G T 9: 19,389,022 (GRCm39) L175M probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pgpep1l T C 7: 67,886,827 (GRCm39) T161A probably benign Het
Prss40 A G 1: 34,599,873 (GRCm39) V38A probably benign Het
Ptk2 C A 15: 73,181,698 (GRCm39) R104L possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rtp4 A G 16: 23,431,833 (GRCm39) N122D possibly damaging Het
Samd8 A G 14: 21,830,213 (GRCm39) Y213C probably benign Het
Shcbp1 T A 8: 4,786,372 (GRCm39) T577S probably benign Het
Tiprl A G 1: 165,050,156 (GRCm39) V153A probably damaging Het
Tmprss7 A T 16: 45,476,936 (GRCm39) D775E probably damaging Het
Tnr T C 1: 159,713,785 (GRCm39) S738P possibly damaging Het
Tsc22d4 T C 5: 137,749,632 (GRCm39) probably null Het
Ttc21a A T 9: 119,771,684 (GRCm39) H161L probably benign Het
Ubqln3 T A 7: 103,791,010 (GRCm39) E360V probably benign Het
Ugt1a10 C A 1: 87,983,932 (GRCm39) D243E probably benign Het
Vmn2r19 G A 6: 123,306,871 (GRCm39) V460I probably benign Het
Vmn2r58 T A 7: 41,487,011 (GRCm39) Y628F possibly damaging Het
Wnk1 A T 6: 119,926,222 (GRCm39) S1588T possibly damaging Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Zfp831 G C 2: 174,547,447 (GRCm39) W1543C possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGGTCTCTTAGGCAGGGAAG -3'
(R):5'- CTGGCTCGGTCTATGAACTG -3'

Sequencing Primer
(F):5'- CTCTTAGGCAGGGAAGTTCGC -3'
(R):5'- CTCGGTCTATGAACTGTTGGTAGTC -3'
Posted On 2015-06-12