Incidental Mutation 'R5318:P2rx4'
ID 405911
Institutional Source Beutler Lab
Gene Symbol P2rx4
Ensembl Gene ENSMUSG00000029470
Gene Name purinergic receptor P2X, ligand-gated ion channel 4
Synonyms D5Ertd444e, P2X4
MMRRC Submission 042901-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5318 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 122845607-122867801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122857211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 149 (C149Y)
Ref Sequence ENSEMBL: ENSMUSP00000117193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031429] [ENSMUST00000081554] [ENSMUST00000139631] [ENSMUST00000142664] [ENSMUST00000198560]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000031429
AA Change: C149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031429
Gene: ENSMUSG00000029470
AA Change: C149Y

DomainStartEndE-ValueType
Pfam:P2X_receptor 13 381 3e-175 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000081554
AA Change: C149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080269
Gene: ENSMUSG00000029470
AA Change: C149Y

DomainStartEndE-ValueType
Pfam:P2X_receptor 13 176 1.6e-72 PFAM
Pfam:P2X_receptor 170 361 2.7e-85 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000139631
AA Change: C149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118163
Gene: ENSMUSG00000029470
AA Change: C149Y

DomainStartEndE-ValueType
Pfam:P2X_receptor 13 176 3.7e-73 PFAM
Pfam:P2X_receptor 171 301 4.6e-59 PFAM
Pfam:P2X_receptor 299 331 1.8e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142664
AA Change: C149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117193
Gene: ENSMUSG00000029470
AA Change: C149Y

DomainStartEndE-ValueType
Pfam:P2X_receptor 13 358 2.7e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152337
Predicted Effect probably benign
Transcript: ENSMUST00000198560
SMART Domains Protein: ENSMUSP00000142849
Gene: ENSMUSG00000029470

DomainStartEndE-ValueType
Pfam:P2X_receptor 13 47 6.9e-9 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in hypertension, abnormal artery morphology, abnormal nitric oxide homeostasis, and impaired flow induced vascular remodeling and vasodilation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G A 17: 35,878,883 (GRCm39) E74K possibly damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankfn1 A G 11: 89,282,754 (GRCm39) S298P probably damaging Het
Arfgef2 A C 2: 166,715,891 (GRCm39) K1393N probably damaging Het
Atp4a T A 7: 30,414,754 (GRCm39) V181E probably damaging Het
Bin3 A G 14: 70,371,961 (GRCm39) D134G possibly damaging Het
Cabs1 A G 5: 88,128,425 (GRCm39) T359A possibly damaging Het
Cblb A T 16: 52,006,561 (GRCm39) K754N possibly damaging Het
Ccdc153 A T 9: 44,157,062 (GRCm39) R135* probably null Het
Cel T C 2: 28,447,720 (GRCm39) E398G possibly damaging Het
Clip1 G A 5: 123,751,147 (GRCm39) probably benign Het
Dnase2b C A 3: 146,288,210 (GRCm39) R295L probably benign Het
Dnm3 G A 1: 161,839,376 (GRCm39) Q194* probably null Het
Dtx2 T A 5: 136,040,954 (GRCm39) S120T possibly damaging Het
Fat3 A T 9: 16,287,925 (GRCm39) S533T probably damaging Het
Foxred2 T C 15: 77,836,598 (GRCm39) I306V probably benign Het
Gdpd5 A T 7: 99,102,234 (GRCm39) T278S probably benign Het
Gli2 T A 1: 118,772,200 (GRCm39) T502S probably damaging Het
Gm21830 A T 2: 67,263,158 (GRCm39) probably null Het
Gm5617 T A 9: 48,407,211 (GRCm39) I115N possibly damaging Het
Gpr75 G T 11: 30,842,459 (GRCm39) A455S probably benign Het
Grik3 A G 4: 125,587,929 (GRCm39) E683G probably damaging Het
Grin2b T C 6: 135,710,916 (GRCm39) I877V probably damaging Het
Gsg1l2 G T 11: 67,673,347 (GRCm39) C109F possibly damaging Het
H2-Q4 G A 17: 35,602,287 (GRCm39) V341I possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Kif5c A G 2: 49,561,840 (GRCm39) K68R probably benign Het
Lct T A 1: 128,232,109 (GRCm39) H580L probably damaging Het
Lrrtm4 A G 6: 79,999,495 (GRCm39) I302M probably damaging Het
Mef2b A T 8: 70,619,493 (GRCm39) R228W probably damaging Het
Mtus2 T A 5: 148,013,382 (GRCm39) D58E probably benign Het
Myh15 T G 16: 48,930,834 (GRCm39) S603A probably damaging Het
Or1x2 T C 11: 50,918,420 (GRCm39) V197A probably benign Het
Or8d1 C T 9: 38,766,744 (GRCm39) P129S probably damaging Het
Or8s2 A G 15: 98,276,523 (GRCm39) I156T possibly damaging Het
Pramel51 A T 12: 88,142,998 (GRCm39) C207S probably benign Het
Proca1 T A 11: 78,092,683 (GRCm39) V43E possibly damaging Het
Rftn1 G T 17: 50,301,486 (GRCm39) N454K probably benign Het
Rrp15 T C 1: 186,453,743 (GRCm39) T235A probably benign Het
Serpina6 T C 12: 103,620,221 (GRCm39) E176G possibly damaging Het
Shprh T G 10: 11,042,301 (GRCm39) I761M probably benign Het
Smg1 A T 7: 117,759,427 (GRCm39) probably benign Het
Snupn T C 9: 56,864,345 (GRCm39) S15P probably damaging Het
Tbc1d15 A T 10: 115,044,874 (GRCm39) Y509* probably null Het
Tcf4 T C 18: 69,598,501 (GRCm39) V72A probably benign Het
Tdrd3 T C 14: 87,714,899 (GRCm39) probably null Het
Tm9sf4 T A 2: 153,029,576 (GRCm39) V175D probably benign Het
Vmn1r201 T C 13: 22,659,092 (GRCm39) L102P probably damaging Het
Wdfy4 T A 14: 32,800,300 (GRCm39) N1788I possibly damaging Het
Xpc A C 6: 91,469,992 (GRCm39) V744G probably damaging Het
Xrcc6 T C 15: 81,921,708 (GRCm39) F178L probably damaging Het
Zbed6 A G 1: 133,585,853 (GRCm39) S495P possibly damaging Het
Zfyve26 A G 12: 79,317,624 (GRCm39) V1196A probably benign Het
Other mutations in P2rx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0709:P2rx4 UTSW 5 122,852,467 (GRCm39) missense probably damaging 1.00
R1081:P2rx4 UTSW 5 122,865,296 (GRCm39) missense probably damaging 0.98
R1464:P2rx4 UTSW 5 122,852,602 (GRCm39) missense probably damaging 0.97
R1464:P2rx4 UTSW 5 122,852,602 (GRCm39) missense probably damaging 0.97
R3434:P2rx4 UTSW 5 122,863,133 (GRCm39) missense probably damaging 1.00
R3435:P2rx4 UTSW 5 122,863,133 (GRCm39) missense probably damaging 1.00
R5090:P2rx4 UTSW 5 122,863,118 (GRCm39) missense probably damaging 1.00
R5888:P2rx4 UTSW 5 122,865,271 (GRCm39) missense probably damaging 1.00
R5888:P2rx4 UTSW 5 122,857,228 (GRCm39) missense probably benign
R5994:P2rx4 UTSW 5 122,863,142 (GRCm39) missense probably damaging 1.00
R6450:P2rx4 UTSW 5 122,865,304 (GRCm39) missense possibly damaging 0.88
R6478:P2rx4 UTSW 5 122,845,763 (GRCm39) missense probably damaging 0.99
R6847:P2rx4 UTSW 5 122,865,814 (GRCm39) missense probably damaging 1.00
X0064:P2rx4 UTSW 5 122,845,842 (GRCm39) nonsense probably null
X0066:P2rx4 UTSW 5 122,845,808 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GTCACTTCAGCAGACGTGTG -3'
(R):5'- TACTCGTGACCCGACTCATG -3'

Sequencing Primer
(F):5'- TTCAGCAGACGTGTGGCCAG -3'
(R):5'- CTCATGGAACAAGAGTGC -3'
Posted On 2016-07-22