Incidental Mutation 'IGL02527:Asic3'
ID 297141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asic3
Ensembl Gene ENSMUSG00000038276
Gene Name acid-sensing ion channel 3
Synonyms Accn3, DRASIC
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL02527
Quality Score
Status
Chromosome 5
Chromosomal Location 24618449-24622836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24621275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 332 (M332V)
Ref Sequence ENSEMBL: ENSMUSP00000143083 (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
AA Change: M332V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276
AA Change: M332V

DomainStartEndE-ValueType
Pfam:ASC 21 458 2.5e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196296
AA Change: M332V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276
AA Change: M332V

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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000198442
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,638,392 (GRCm39) V868A probably damaging Het
Adam25 T A 8: 41,206,785 (GRCm39) I17K possibly damaging Het
Arap2 A T 5: 62,906,650 (GRCm39) M123K probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cand1 A T 10: 119,042,712 (GRCm39) M1126K probably damaging Het
Capn3 A G 2: 120,334,966 (GRCm39) T818A probably damaging Het
Cda G A 4: 138,070,832 (GRCm39) Q104* probably null Het
Cfhr4 T C 1: 139,680,783 (GRCm39) N245S probably damaging Het
Cpeb1 T C 7: 81,009,635 (GRCm39) D234G probably damaging Het
Cpq A G 15: 33,302,509 (GRCm39) Y220C probably damaging Het
Diaph3 T C 14: 87,047,795 (GRCm39) K1026R possibly damaging Het
Dpep1 T C 8: 123,925,487 (GRCm39) F47L probably damaging Het
Dppa4 G T 16: 48,109,456 (GRCm39) R66L possibly damaging Het
Elac1 C A 18: 73,880,304 (GRCm39) E31* probably null Het
Fggy A G 4: 95,585,306 (GRCm39) K62E probably damaging Het
Ficd T A 5: 113,875,027 (GRCm39) M32K probably benign Het
Foxd4 A G 19: 24,877,178 (GRCm39) S341P probably benign Het
Gnb4 G T 3: 32,644,015 (GRCm39) T181K probably benign Het
Grin2b T A 6: 135,900,389 (GRCm39) Y164F probably damaging Het
Hmmr A G 11: 40,598,932 (GRCm39) L564P probably damaging Het
Hsd17b4 G A 18: 50,293,231 (GRCm39) V257I probably benign Het
Itga10 C A 3: 96,562,940 (GRCm39) probably benign Het
Kcnk18 T C 19: 59,223,707 (GRCm39) V284A probably damaging Het
Klf11 T A 12: 24,705,322 (GRCm39) S259T probably benign Het
Kmt2d C T 15: 98,739,628 (GRCm39) probably benign Het
Manea A G 4: 26,336,619 (GRCm39) probably null Het
Mybl1 T C 1: 9,760,373 (GRCm39) H75R probably damaging Het
Neb G A 2: 52,153,959 (GRCm39) T2384M probably damaging Het
Neb A G 2: 52,039,225 (GRCm39) I6938T probably benign Het
Ntrk3 T C 7: 78,101,697 (GRCm39) D412G probably benign Het
Olah T C 2: 3,343,979 (GRCm39) E211G probably damaging Het
Or10ag2 T C 2: 87,249,181 (GRCm39) L261S probably damaging Het
Paxbp1 A T 16: 90,834,161 (GRCm39) N208K possibly damaging Het
Prrc1 T A 18: 57,522,419 (GRCm39) M417K probably benign Het
Ptprq G A 10: 107,522,424 (GRCm39) T543M probably benign Het
Rasal1 T C 5: 120,804,469 (GRCm39) V447A probably damaging Het
Rbl1 T C 2: 157,035,968 (GRCm39) E287G probably benign Het
Rusf1 T A 7: 127,875,403 (GRCm39) T317S possibly damaging Het
Tec A G 5: 72,936,758 (GRCm39) probably null Het
Tex26 A G 5: 149,380,407 (GRCm39) D61G probably damaging Het
Tgfb1i1 G A 7: 127,851,734 (GRCm39) probably benign Het
Tmem132c T C 5: 127,436,675 (GRCm39) Y55H possibly damaging Het
Tmem63a T A 1: 180,780,539 (GRCm39) probably null Het
Umod C T 7: 119,068,690 (GRCm39) G452D probably damaging Het
Vcan G A 13: 89,838,776 (GRCm39) T2256I possibly damaging Het
Vmn1r31 A T 6: 58,449,778 (GRCm39) I29K probably benign Het
Vmn2r117 A G 17: 23,696,199 (GRCm39) Y403H possibly damaging Het
Vmn2r124 A T 17: 18,286,764 (GRCm39) probably null Het
Vmn2r65 T A 7: 84,595,724 (GRCm39) K320M possibly damaging Het
Other mutations in Asic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Asic3 APN 5 24,622,719 (GRCm39) missense probably benign 0.44
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
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
Posted On 2015-04-16