Incidental Mutation 'R3434:P2rx4'
ID 266344
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 040652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3434 (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: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,508,511 (GRCm39) A1008V probably damaging Het
Adora3 A G 3: 105,812,231 (GRCm39) K39R probably benign Het
Ankib1 A G 5: 3,742,760 (GRCm39) V1085A probably damaging Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Azin1 T C 15: 38,493,820 (GRCm39) I268V probably benign Het
Carm1 T C 9: 21,480,769 (GRCm39) F81S probably damaging Het
Ccnjl A G 11: 43,470,688 (GRCm39) Y152C probably damaging Het
Chrna3 T A 9: 54,931,610 (GRCm39) I61F possibly damaging Het
Clca3a2 G A 3: 144,514,522 (GRCm39) probably benign Het
Clstn2 T A 9: 97,336,768 (GRCm39) D903V probably benign Het
Dpysl3 C T 18: 43,494,126 (GRCm39) V70I probably benign Het
Drg2 A T 11: 60,352,218 (GRCm39) K180* probably null Het
Dync2h1 A C 9: 7,011,236 (GRCm39) H3659Q probably benign Het
Dysf A T 6: 84,047,870 (GRCm39) Y349F probably benign Het
Epb41l4b T C 4: 57,040,865 (GRCm39) N533D probably benign Het
Fam47e T A 5: 92,733,221 (GRCm39) V152D probably damaging Het
Fasn G A 11: 120,713,599 (GRCm39) A24V probably damaging Het
Fhl4 T C 10: 84,934,308 (GRCm39) T158A probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Hdlbp A T 1: 93,355,883 (GRCm39) M358K probably benign Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Lhx4 A G 1: 155,578,147 (GRCm39) Y332H probably damaging 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
Mrps23 A G 11: 88,100,940 (GRCm39) K44E probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or2ag13 A T 7: 106,472,976 (GRCm39) Y159N probably benign Het
Or4a67 T C 2: 88,598,413 (GRCm39) D82G probably damaging Het
Or5w11 T C 2: 87,459,418 (GRCm39) F204L probably benign Het
Phykpl A G 11: 51,489,482 (GRCm39) T363A probably benign Het
Pitpnm1 G A 19: 4,162,234 (GRCm39) A1047T probably damaging Het
Ppat A G 5: 77,065,912 (GRCm39) I402T probably damaging Het
Rpgr A G X: 10,042,841 (GRCm39) S656P probably benign Het
Rsbn1l T C 5: 21,110,928 (GRCm39) probably benign Het
Sacs A G 14: 61,449,752 (GRCm39) K3933E probably damaging Het
Scn7a T C 2: 66,505,847 (GRCm39) I1681V probably benign Het
Sel1l3 T C 5: 53,274,432 (GRCm39) D1016G probably benign Het
Sf3a3 C A 4: 124,618,870 (GRCm39) T277N possibly damaging Het
Slc35a5 A G 16: 44,964,396 (GRCm39) I279T probably benign Het
Slc39a10 T C 1: 46,874,877 (GRCm39) T142A probably benign Het
Tle3 T A 9: 61,321,376 (GRCm39) probably null Het
Tmem117 T C 15: 94,992,573 (GRCm39) I411T probably damaging Het
Ttn T C 2: 76,698,721 (GRCm39) T5A possibly damaging Het
Tubgcp3 T C 8: 12,708,381 (GRCm39) probably null Het
Ush2a C T 1: 188,465,955 (GRCm39) P2841L probably damaging Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K probably benign Het
Vmn2r91 A T 17: 18,330,370 (GRCm39) 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
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
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'- GGCTGCAGAAAACTTCACCC -3'
(R):5'- TGGATACCCATGATGCCTCC -3'

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