Incidental Mutation 'R5005:Asic2'
ID 390148
Institutional Source Beutler Lab
Gene Symbol Asic2
Ensembl Gene ENSMUSG00000020704
Gene Name acid-sensing ion channel 2
Synonyms BNaC1a, Mdeg, BNC1, Accn1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5005 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 80770989-81859222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80774252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 455 (Y455C)
Ref Sequence ENSEMBL: ENSMUSP00000067095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021045] [ENSMUST00000066197]
AlphaFold Q925H0
Predicted Effect probably damaging
Transcript: ENSMUST00000021045
AA Change: Y506C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021045
Gene: ENSMUSG00000020704
AA Change: Y506C

DomainStartEndE-ValueType
low complexity region 23 38 N/A INTRINSIC
Pfam:ASC 61 504 6.7e-94 PFAM
low complexity region 507 523 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000066197
AA Change: Y455C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067095
Gene: ENSMUSG00000020704
AA Change: Y455C

DomainStartEndE-ValueType
Pfam:ASC 20 454 3.3e-177 PFAM
low complexity region 456 472 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
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, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased mechanoreceptor and spiral ganglion electrophysiology and decreased pressure-induced blood vessel constriction. Mice homozygous for a different knock-out allele exhibit retinal degeneration and abnormal eye electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 T C 11: 83,230,218 (GRCm39) V412A probably damaging Het
Bbx T C 16: 50,086,714 (GRCm39) K61E probably damaging Het
Cd207 T C 6: 83,651,367 (GRCm39) E196G possibly damaging Het
Chn1 T A 2: 73,490,130 (GRCm39) Q49L possibly damaging Het
Cpd A G 11: 76,704,396 (GRCm39) I406T probably damaging Het
D630003M21Rik C T 2: 158,053,563 (GRCm39) V642I possibly damaging Het
Dnah7b C T 1: 46,281,188 (GRCm39) L2750F probably damaging Het
Epyc A G 10: 97,510,562 (GRCm39) T122A probably benign Het
Kcnt1 A G 2: 25,791,358 (GRCm39) H567R probably damaging Het
Magi2 A G 5: 20,739,444 (GRCm39) D729G probably damaging Het
Myh4 G T 11: 67,144,241 (GRCm39) V1204L probably benign Het
Noa1 T C 5: 77,456,873 (GRCm39) Y344C probably damaging Het
Or1j19 A G 2: 36,677,370 (GRCm39) M278V probably benign Het
Or4c102 A G 2: 88,422,348 (GRCm39) M67V probably benign Het
Pex1 T C 5: 3,672,310 (GRCm39) S718P probably damaging Het
Plxnb1 T A 9: 108,935,647 (GRCm39) V1061E probably benign Het
Rdh16f1 A G 10: 127,624,546 (GRCm39) Q128R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Slc26a9 A T 1: 131,693,625 (GRCm39) Q705L probably damaging Het
Tas2r143 T A 6: 42,377,658 (GRCm39) C163S probably benign Het
Tigd2 A G 6: 59,188,131 (GRCm39) T333A probably benign Het
Urb2 T C 8: 124,757,920 (GRCm39) V1209A probably damaging Het
Vmn2r71 T A 7: 85,273,352 (GRCm39) V722D probably damaging Het
Other mutations in Asic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01651:Asic2 APN 11 80,784,856 (GRCm39) missense probably damaging 0.99
IGL02420:Asic2 APN 11 80,772,479 (GRCm39) missense probably benign 0.05
IGL02451:Asic2 APN 11 80,782,563 (GRCm39) splice site probably benign
LCD18:Asic2 UTSW 11 80,876,570 (GRCm39) intron probably benign
R0682:Asic2 UTSW 11 80,777,506 (GRCm39) missense possibly damaging 0.67
R0718:Asic2 UTSW 11 80,862,282 (GRCm39) splice site probably benign
R0784:Asic2 UTSW 11 80,784,815 (GRCm39) missense possibly damaging 0.92
R2679:Asic2 UTSW 11 81,042,780 (GRCm39) missense probably benign 0.13
R2883:Asic2 UTSW 11 80,784,839 (GRCm39) missense possibly damaging 0.61
R2991:Asic2 UTSW 11 81,858,863 (GRCm39) missense probably benign
R4722:Asic2 UTSW 11 81,859,009 (GRCm39) start codon destroyed probably null 0.00
R4770:Asic2 UTSW 11 80,862,318 (GRCm39) missense probably benign 0.07
R4900:Asic2 UTSW 11 81,464,280 (GRCm39) intron probably benign
R5056:Asic2 UTSW 11 80,862,429 (GRCm39) missense possibly damaging 0.64
R5344:Asic2 UTSW 11 80,862,413 (GRCm39) missense probably damaging 1.00
R5490:Asic2 UTSW 11 80,780,646 (GRCm39) missense probably benign 0.02
R5722:Asic2 UTSW 11 81,858,806 (GRCm39) missense probably benign 0.07
R6072:Asic2 UTSW 11 80,784,914 (GRCm39) missense probably damaging 0.97
R6589:Asic2 UTSW 11 80,777,430 (GRCm39) missense possibly damaging 0.79
R7068:Asic2 UTSW 11 81,043,081 (GRCm39) missense probably benign 0.01
R7226:Asic2 UTSW 11 80,862,340 (GRCm39) missense probably damaging 1.00
R7593:Asic2 UTSW 11 81,858,657 (GRCm39) missense probably benign 0.01
R7869:Asic2 UTSW 11 81,858,824 (GRCm39) missense probably damaging 1.00
R8747:Asic2 UTSW 11 81,043,233 (GRCm39) missense possibly damaging 0.46
R8772:Asic2 UTSW 11 81,858,713 (GRCm39) missense probably benign 0.20
R8821:Asic2 UTSW 11 81,858,726 (GRCm39) missense probably damaging 1.00
R8831:Asic2 UTSW 11 81,858,726 (GRCm39) missense probably damaging 1.00
R8989:Asic2 UTSW 11 81,043,180 (GRCm39) missense probably benign 0.01
R9155:Asic2 UTSW 11 80,784,872 (GRCm39) missense probably benign 0.00
R9188:Asic2 UTSW 11 81,042,738 (GRCm39) missense probably benign 0.00
Z1176:Asic2 UTSW 11 81,858,496 (GRCm39) missense probably benign 0.05
Z1176:Asic2 UTSW 11 80,780,658 (GRCm39) missense possibly damaging 0.55
Z1177:Asic2 UTSW 11 81,043,066 (GRCm39) missense possibly damaging 0.94
Z1177:Asic2 UTSW 11 81,042,916 (GRCm39) missense probably benign 0.00
Z1177:Asic2 UTSW 11 80,784,837 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- CTCCCTCTCTGTGATGTAGGAC -3'
(R):5'- TGGCTAGTGACTTACTCGGC -3'

Sequencing Primer
(F):5'- CCTCTCTGTGATGTAGGACAAGTC -3'
(R):5'- TACTCGGCTCTCATTGTCAATGGAAG -3'
Posted On 2016-06-06