Incidental Mutation 'R3435:P2rx4'
ID 267156
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 040653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3435 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 122845607-122867801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122863133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 202 (I202K)
Ref Sequence ENSEMBL: ENSMUSP00000118163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031429] [ENSMUST00000081554] [ENSMUST00000139631] [ENSMUST00000142664] [ENSMUST00000198560]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031429
AA Change: I229K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031429
Gene: ENSMUSG00000029470
AA Change: I229K

DomainStartEndE-ValueType
Pfam:P2X_receptor 13 381 3e-175 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000081554
AA Change: I202K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080269
Gene: ENSMUSG00000029470
AA Change: I202K

DomainStartEndE-ValueType
Pfam:P2X_receptor 13 176 1.6e-72 PFAM
Pfam:P2X_receptor 170 361 2.7e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132062
Predicted Effect probably damaging
Transcript: ENSMUST00000139631
AA Change: I202K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118163
Gene: ENSMUSG00000029470
AA Change: I202K

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 noncoding transcript
Transcript: ENSMUST00000139712
Predicted Effect probably damaging
Transcript: ENSMUST00000142664
AA Change: I229K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117193
Gene: ENSMUSG00000029470
AA Change: I229K

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

DomainStartEndE-ValueType
Pfam:P2X_receptor 13 47 6.9e-9 PFAM
Meta Mutation Damage Score 0.9634 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (33/33)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A C 2: 68,432,189 (GRCm39) D91A unknown Het
Abca9 T C 11: 110,045,256 (GRCm39) E359G probably benign Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Dnah1 T C 14: 31,038,631 (GRCm39) D150G probably damaging Het
Fam47e T A 5: 92,733,221 (GRCm39) V152D probably damaging Het
Gm19965 C A 1: 116,749,353 (GRCm39) H345N possibly damaging Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Iqgap3 A G 3: 88,001,911 (GRCm39) I384V probably benign Het
Lrrc57 T A 2: 120,439,862 (GRCm39) probably benign Het
Mafk C T 5: 139,786,062 (GRCm39) Q87* probably null Het
Mast2 A T 4: 116,165,292 (GRCm39) S1314T probably benign Het
Mast4 A G 13: 102,923,887 (GRCm39) I508T probably damaging Het
Mdn1 T C 4: 32,733,726 (GRCm39) probably null Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Neurl1a T C 19: 47,245,964 (GRCm39) V532A probably damaging Het
Nod2 A G 8: 89,390,637 (GRCm39) R293G possibly damaging Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or1j1 T A 2: 36,702,690 (GRCm39) Q138L probably benign Het
Osbpl3 A T 6: 50,325,050 (GRCm39) N149K possibly damaging Het
Pbxip1 T C 3: 89,354,543 (GRCm39) L354P probably damaging Het
Pld1 A T 3: 28,178,772 (GRCm39) M889L probably benign Het
Ppp2r2b T A 18: 42,874,174 (GRCm39) Q52L possibly damaging Het
Prob1 T C 18: 35,787,294 (GRCm39) E320G possibly damaging Het
Stard13 A T 5: 150,965,644 (GRCm39) L937Q probably damaging Het
Strn4 T C 7: 16,571,558 (GRCm39) S563P possibly damaging Het
Syne1 T C 10: 5,298,565 (GRCm39) D1114G probably damaging Het
Tmem117 T C 15: 94,992,573 (GRCm39) I411T probably damaging Het
Tmx3 T A 18: 90,546,028 (GRCm39) V203E probably damaging Het
Ttn T C 2: 76,709,062 (GRCm39) probably benign Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K 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
R5090:P2rx4 UTSW 5 122,863,118 (GRCm39) missense probably damaging 1.00
R5318:P2rx4 UTSW 5 122,857,211 (GRCm39) missense probably null 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'- AGGCTGCAGAAAACTTCACC -3'
(R):5'- ATACCCATGATGCCTCCCTG -3'

Sequencing Primer
(F):5'- TCCATAACGAGATCTGGTGC -3'
(R):5'- CCTGTGGGGAAAGCAGG -3'
Posted On 2015-02-18