Incidental Mutation 'R4383:Asic3'
ID 325404
Institutional Source Beutler Lab
Gene Symbol Asic3
Ensembl Gene ENSMUSG00000038276
Gene Name acid-sensing ion channel 3
Synonyms Accn3, DRASIC
MMRRC Submission 041123-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R4383 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24618449-24622836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24618932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 75 (T75A)
Ref Sequence ENSEMBL: ENSMUSP00000143083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000049346] [ENSMUST00000073076] [ENSMUST00000115077] [ENSMUST00000196296]
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 damaging
Transcript: ENSMUST00000049346
AA Change: T75A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276
AA Change: T75A

DomainStartEndE-ValueType
Pfam:ASC 21 458 2.5e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073076
SMART Domains Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:ABC_membrane 130 407 3.6e-48 PFAM
AAA 481 668 8.58e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115077
SMART Domains Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:ABC_membrane 130 407 1.1e-56 PFAM
AAA 481 668 8.58e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136459
Predicted Effect probably benign
Transcript: ENSMUST00000151535
SMART Domains Protein: ENSMUSP00000114767
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
Pfam:Zeta_toxin 6 68 7.5e-9 PFAM
Pfam:ABC_tran 8 124 1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196296
AA Change: T75A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276
AA Change: T75A

DomainStartEndE-ValueType
Pfam:ASC 21 459 4e-155 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197210
Predicted Effect probably benign
Transcript: ENSMUST00000198166
Predicted Effect probably benign
Transcript: ENSMUST00000198442
Meta Mutation Damage Score 0.3974 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 89% (32/36)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
Arih2 T G 9: 108,521,476 (GRCm39) M1L probably benign Het
Baat C T 4: 49,499,731 (GRCm39) A192T probably damaging Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Clca3a2 T C 3: 144,512,081 (GRCm39) I552V probably benign Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Des T C 1: 75,337,413 (GRCm39) F118L possibly damaging Het
Ermard T C 17: 15,280,128 (GRCm39) S130P possibly damaging Het
Fbxl5 A G 5: 43,920,305 (GRCm39) probably benign Het
Gad2 G A 2: 22,575,422 (GRCm39) V509I probably benign Het
Inmt C A 6: 55,148,203 (GRCm39) C142F probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kmt2c A T 5: 25,556,060 (GRCm39) D1228E possibly damaging Het
Marf1 T A 16: 13,960,505 (GRCm39) Y513F possibly damaging Het
Msh2 G A 17: 87,996,566 (GRCm39) E425K probably benign Het
Or6n2 T C 1: 173,897,043 (GRCm39) Y60H probably benign Het
Poc1b A G 10: 98,992,161 (GRCm39) D326G probably damaging Het
Rbp3 G C 14: 33,677,253 (GRCm39) E400D probably benign Het
Rsf1 A G 7: 97,334,683 (GRCm39) K1272R possibly damaging Het
Sec24c G A 14: 20,740,841 (GRCm39) V620M probably damaging Het
Trim3 C T 7: 105,267,606 (GRCm39) A264T probably damaging Het
Ubr2 G C 17: 47,250,313 (GRCm39) H1545D probably benign Het
Vps13a A T 19: 16,678,529 (GRCm39) C1151S probably damaging Het
Zap70 C T 1: 36,820,042 (GRCm39) R471W probably damaging Het
Zfp329 G A 7: 12,545,584 (GRCm39) probably benign Het
Zfp606 A T 7: 12,227,928 (GRCm39) Y625F probably damaging 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
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
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'- TGCTCCAGCCATGAAACCTC -3'
(R):5'- TGTGCCATGTCAAAAGTCGGAC -3'

Sequencing Primer
(F):5'- GACAGGCCTCAGACATCCG -3'
(R):5'- CATGTCAAAAGTCGGACTGGGC -3'
Posted On 2015-07-06