Incidental Mutation 'IGL02527:Asic3'
ID297141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asic3
Ensembl Gene ENSMUSG00000038276
Gene Nameacid-sensing (proton-gated) ion channel 3
SynonymsDRASIC, Accn3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL02527
Quality Score
Status
Chromosome5
Chromosomal Location24413392-24417835 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24416277 bp
ZygosityHeterozygous
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]
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: 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
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: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Cand1 A T 10: 119,206,807 M1126K probably damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dpep1 T C 8: 123,198,748 F47L probably damaging Het
Dppa4 G T 16: 48,289,093 R66L possibly damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Fggy A G 4: 95,697,069 K62E probably damaging Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Kcnk18 T C 19: 59,235,275 V284A probably damaging Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Manea A G 4: 26,336,619 probably null Het
Mybl1 T C 1: 9,690,148 H75R probably damaging Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Paxbp1 A T 16: 91,037,273 N208K possibly damaging Het
Prrc1 T A 18: 57,389,347 M417K probably benign Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M possibly damaging Het
Other mutations in Asic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Asic3 APN 5 24417721 missense probably benign 0.44
IGL02869:Asic3 APN 5 24416974 nonsense probably null
E0370:Asic3 UTSW 5 24413987 missense probably damaging 1.00
IGL03047:Asic3 UTSW 5 24413790 missense probably benign
R0011:Asic3 UTSW 5 24417492 unclassified probably benign
R0011:Asic3 UTSW 5 24417492 unclassified probably benign
R0245:Asic3 UTSW 5 24413838 missense probably damaging 1.00
R0270:Asic3 UTSW 5 24417702 missense probably benign 0.01
R1464:Asic3 UTSW 5 24413821 missense probably damaging 1.00
R1464:Asic3 UTSW 5 24413821 missense probably damaging 1.00
R1702:Asic3 UTSW 5 24415456 missense probably damaging 1.00
R1824:Asic3 UTSW 5 24413751 nonsense probably null
R3403:Asic3 UTSW 5 24416987 missense probably damaging 1.00
R3722:Asic3 UTSW 5 24416999 missense probably benign 0.08
R4383:Asic3 UTSW 5 24413934 missense probably damaging 1.00
R4573:Asic3 UTSW 5 24417192 missense probably damaging 1.00
R4794:Asic3 UTSW 5 24415897 missense probably damaging 0.96
R6701:Asic3 UTSW 5 24414129 missense possibly damaging 0.65
R7154:Asic3 UTSW 5 24413662 unclassified probably benign
R7569:Asic3 UTSW 5 24414048 missense probably benign 0.00
Posted On2015-04-16