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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |