Incidental Mutation 'R0011:Asic3'
ID 98979
Institutional Source Beutler Lab
Gene Symbol Asic3
Ensembl Gene ENSMUSG00000038276
Gene Name acid-sensing ion channel 3
Synonyms Accn3, DRASIC
MMRRC Submission 038306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R0011 (G1)
Quality Score 56
Status Validated
Chromosome 5
Chromosomal Location 24618449-24622836 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 24622490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000049346] [ENSMUST00000196296] [ENSMUST00000198990]
AlphaFold Q6X1Y6
Predicted Effect probably benign
Transcript: ENSMUST00000030814
SMART Domains Protein: ENSMUSP00000030814
Gene: ENSMUSG00000028969

DomainStartEndE-ValueType
S_TKc 4 286 6.11e-101 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049346
SMART Domains Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276

DomainStartEndE-ValueType
Pfam:ASC 21 458 2.5e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196296
SMART Domains Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276

DomainStartEndE-ValueType
Pfam:ASC 21 459 4e-155 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198241
Predicted Effect probably benign
Transcript: ENSMUST00000198442
Predicted Effect probably benign
Transcript: ENSMUST00000198990
SMART Domains Protein: ENSMUSP00000142413
Gene: ENSMUSG00000028969

DomainStartEndE-ValueType
Pfam:Pkinase 4 101 9.7e-23 PFAM
Pfam:Pkinase_Tyr 4 102 2.7e-13 PFAM
Pfam:Pkinase 97 254 6.6e-30 PFAM
Pfam:Pkinase_Tyr 102 200 9.4e-6 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced latency to onset of pain responses, increased sensitivity to light touch, but decreased sensitivity to noxious pinch and responses of acid- and noxious heat-sensitive nociceptors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,380,213 (GRCm39) Y344C probably damaging Het
Alox15 A G 11: 70,240,422 (GRCm39) V253A possibly damaging Het
Ank3 A G 10: 69,815,281 (GRCm39) probably benign Het
Art3 T A 5: 92,551,471 (GRCm39) Y17N probably damaging Het
Bach2 G T 4: 32,244,655 (GRCm39) probably benign Het
Brip1 C A 11: 86,077,824 (GRCm39) K201N possibly damaging Het
Ccdc88a T C 11: 29,324,364 (GRCm39) F6S probably damaging Het
Cdcp3 T A 7: 130,831,722 (GRCm39) L389Q probably damaging Het
Celsr2 A G 3: 108,320,718 (GRCm39) I698T probably benign Het
Cenpf A G 1: 189,382,903 (GRCm39) S2664P probably benign Het
Cfap54 A T 10: 92,901,087 (GRCm39) C156S probably damaging Het
Cops4 C A 5: 100,675,847 (GRCm39) Q28K probably benign Het
Cyb5a T A 18: 84,895,947 (GRCm39) probably benign Het
Diaph3 A T 14: 87,103,844 (GRCm39) C847S probably damaging Het
Dnah3 T C 7: 119,618,924 (GRCm39) K1648R probably damaging Het
Dnai7 T A 6: 145,124,781 (GRCm39) M515L probably damaging Het
Emilin2 C T 17: 71,580,863 (GRCm39) G621E probably benign Het
Enpp1 T A 10: 24,545,900 (GRCm39) K228* probably null Het
Epg5 T C 18: 77,991,698 (GRCm39) C132R probably benign Het
Epha7 G A 4: 28,962,564 (GRCm39) D961N probably benign Het
G6pc2 C A 2: 69,056,909 (GRCm39) probably benign Het
Gm7361 C T 5: 26,463,876 (GRCm39) probably benign Het
Grin2c T C 11: 115,146,576 (GRCm39) Y476C probably damaging Het
Hnrnpul1 T G 7: 25,442,340 (GRCm39) probably benign Het
Igf2bp1 T C 11: 95,896,410 (GRCm39) D17G probably damaging Het
Insrr T C 3: 87,716,923 (GRCm39) C688R possibly damaging Het
Itgb2l T C 16: 96,228,861 (GRCm39) probably benign Het
Kidins220 T A 12: 25,049,351 (GRCm39) V322E probably damaging Het
Klk1 C T 7: 43,878,959 (GRCm39) T149I probably benign Het
Mbd3l1 A G 9: 18,395,863 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Mtr T C 13: 12,252,938 (GRCm39) probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Npy4r C T 14: 33,868,680 (GRCm39) V203M probably damaging Het
Or8g52 T A 9: 39,630,923 (GRCm39) N133K probably benign Het
Pik3r4 C A 9: 105,521,836 (GRCm39) T134K probably benign Het
Rdh19 T A 10: 127,692,780 (GRCm39) L149Q probably damaging Het
Sema3e C T 5: 14,194,025 (GRCm39) R85* probably null Het
Shtn1 A G 19: 59,020,650 (GRCm39) S191P possibly damaging Het
Slc39a11 A T 11: 113,138,659 (GRCm39) F279L probably benign Het
Slc4a1 T C 11: 102,247,936 (GRCm39) K353E possibly damaging Het
Slc6a18 A T 13: 73,813,738 (GRCm39) M515K possibly damaging Het
Snapc4 A G 2: 26,254,825 (GRCm39) I1225T probably benign Het
Spidr A T 16: 15,784,467 (GRCm39) W534R probably benign Het
Tmem202 T A 9: 59,432,084 (GRCm39) N81I probably benign Het
Tnfrsf1b T G 4: 144,949,536 (GRCm39) R297S possibly damaging Het
Trim55 A G 3: 19,725,163 (GRCm39) T227A probably benign Het
Trim58 A T 11: 58,533,946 (GRCm39) T167S probably benign Het
Trp53i11 A T 2: 93,029,698 (GRCm39) probably benign Het
Ttn T C 2: 76,640,699 (GRCm39) H5356R probably damaging Het
Tyrp1 C T 4: 80,759,030 (GRCm39) T301I probably damaging Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Wscd1 T C 11: 71,679,654 (GRCm39) V509A probably damaging Het
Zfp251 A G 15: 76,738,754 (GRCm39) V108A probably benign Het
Other mutations in Asic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Asic3 APN 5 24,622,719 (GRCm39) missense probably benign 0.44
IGL02527:Asic3 APN 5 24,621,275 (GRCm39) missense probably benign 0.00
IGL02869:Asic3 APN 5 24,621,972 (GRCm39) nonsense probably null
E0370:Asic3 UTSW 5 24,618,985 (GRCm39) missense probably damaging 1.00
IGL03047:Asic3 UTSW 5 24,618,788 (GRCm39) missense probably benign
R0011:Asic3 UTSW 5 24,622,490 (GRCm39) unclassified probably benign
R0245:Asic3 UTSW 5 24,618,836 (GRCm39) missense probably damaging 1.00
R0270:Asic3 UTSW 5 24,622,700 (GRCm39) missense probably benign 0.01
R1464:Asic3 UTSW 5 24,618,819 (GRCm39) missense probably damaging 1.00
R1464:Asic3 UTSW 5 24,618,819 (GRCm39) missense probably damaging 1.00
R1702:Asic3 UTSW 5 24,620,454 (GRCm39) missense probably damaging 1.00
R1824:Asic3 UTSW 5 24,618,749 (GRCm39) nonsense probably null
R3403:Asic3 UTSW 5 24,621,985 (GRCm39) missense probably damaging 1.00
R3722:Asic3 UTSW 5 24,621,997 (GRCm39) missense probably benign 0.08
R4383:Asic3 UTSW 5 24,618,932 (GRCm39) missense probably damaging 1.00
R4573:Asic3 UTSW 5 24,622,190 (GRCm39) missense probably damaging 1.00
R4794:Asic3 UTSW 5 24,620,895 (GRCm39) missense probably damaging 0.96
R6701:Asic3 UTSW 5 24,619,127 (GRCm39) missense possibly damaging 0.65
R7154:Asic3 UTSW 5 24,618,660 (GRCm39) unclassified probably benign
R7569:Asic3 UTSW 5 24,619,046 (GRCm39) missense probably benign 0.00
R7956:Asic3 UTSW 5 24,621,975 (GRCm39) missense possibly damaging 0.61
R9233:Asic3 UTSW 5 24,618,837 (GRCm39) missense probably damaging 1.00
R9564:Asic3 UTSW 5 24,620,875 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- ATGGGACTGTTTATCGGAGCCAGC -3'
(R):5'- CCTTGTCACGAGGTAACAGGTACG -3'

Sequencing Primer
(F):5'- TCCCCAGGTTTTTCAAGACAGAG -3'
(R):5'- CTTGGTGACAGCACTGGGAG -3'
Posted On 2014-01-10