Incidental Mutation 'IGL02029:P2rx6'
ID 184291
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 # IGL02029
Quality Score
Status
Chromosome 16
Chromosomal Location 17379729-17389879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17385959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 236 (S236F)
Ref Sequence ENSEMBL: ENSMUSP00000130079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000063544] [ENSMUST00000168383] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231615] [ENSMUST00000231806] [ENSMUST00000232385] [ENSMUST00000232226]
AlphaFold O54803
Predicted Effect probably benign
Transcript: ENSMUST00000023441
AA Change: S236F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758
AA Change: S236F

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 benign
Transcript: ENSMUST00000168383
AA Change: S236F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000130079
Gene: ENSMUSG00000022758
AA Change: S236F

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
AA Change: S209F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758
AA Change: S209F

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: ENSMUST00000231615
Predicted Effect probably benign
Transcript: ENSMUST00000231806
AA Change: S236F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000232385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232429
Predicted Effect probably benign
Transcript: ENSMUST00000232226
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 126,916,152 (GRCm39) V221A unknown Het
Akr1c13 T A 13: 4,255,361 (GRCm39) Y317* probably null Het
Bicd2 T A 13: 49,522,975 (GRCm39) I30N probably damaging Het
Cadm2 G T 16: 66,544,182 (GRCm39) N291K probably damaging Het
Ccdc61 C T 7: 18,637,423 (GRCm39) C68Y probably damaging Het
Ccnl2 A G 4: 155,906,319 (GRCm39) S351G probably benign Het
Cdcp1 A G 9: 123,012,899 (GRCm39) probably benign Het
Clhc1 T C 11: 29,510,798 (GRCm39) S256P probably benign Het
Fam83h T C 15: 75,878,287 (GRCm39) E37G probably damaging Het
Fancd2 C T 6: 113,547,936 (GRCm39) L938F probably benign Het
Fbn2 G T 18: 58,342,675 (GRCm39) A68E probably benign Het
Fcrl1 T A 3: 87,283,794 (GRCm39) probably benign Het
Ganc A G 2: 120,290,338 (GRCm39) T892A probably benign Het
Gramd1a C T 7: 30,832,249 (GRCm39) R596H possibly damaging Het
Limk1 A T 5: 134,686,808 (GRCm39) Y518* probably null Het
Map1a A G 2: 121,133,779 (GRCm39) T1294A possibly damaging Het
Marchf3 G A 18: 56,940,753 (GRCm39) P126S probably benign Het
Ntn5 A G 7: 45,336,015 (GRCm39) I149V probably benign Het
Nup43 T C 10: 7,543,347 (GRCm39) F8L possibly damaging Het
Or5b122 A T 19: 13,563,468 (GRCm39) M267L probably benign Het
Or5be3 A G 2: 86,864,245 (GRCm39) F107L probably benign Het
Peg10 G T 6: 4,754,473 (GRCm39) probably benign Het
Runx2 T A 17: 44,969,574 (GRCm39) R238* probably null Het
Serpinb9d A T 13: 33,380,512 (GRCm39) I133L possibly damaging Het
Snph A G 2: 151,435,527 (GRCm39) V434A probably damaging Het
Trp53rkb C A 2: 166,637,314 (GRCm39) P90Q probably damaging Het
Ttn C A 2: 76,580,148 (GRCm39) E21836* probably null Het
Tut7 A G 13: 59,932,702 (GRCm39) probably benign Het
Ube3c T A 5: 29,824,326 (GRCm39) F507I probably damaging Het
Ugt1a6a T C 1: 88,066,403 (GRCm39) S70P probably benign Het
Zfp354b C T 11: 50,814,664 (GRCm39) C87Y probably benign Het
Zfp462 G T 4: 55,079,395 (GRCm39) probably benign Het
Other mutations in P2rx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-05-07