Incidental Mutation 'IGL01651:Asic2'
| ID |
102838 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01651
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
80770989-81859222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80784856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 310
(D310G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021045]
[ENSMUST00000066197]
|
| AlphaFold |
Q925H0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021045
AA Change: D361G
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021045
Gene: ENSMUSG00000020704
AA Change: D361G
| 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: D310G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067095
Gene: ENSMUSG00000020704
AA Change: D310G
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
T |
C |
2: 181,136,531 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,633,458 (GRCm39) |
V2980E |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,506,569 (GRCm39) |
L457P |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,439,391 (GRCm39) |
S599G |
unknown |
Het |
| Col25a1 |
G |
A |
3: 130,360,134 (GRCm39) |
M487I |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,138,855 (GRCm39) |
F885I |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,933,975 (GRCm39) |
V154A |
probably damaging |
Het |
| Golga3 |
A |
C |
5: 110,340,771 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
T |
C |
9: 65,031,394 (GRCm39) |
V491A |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,564,628 (GRCm39) |
D877V |
possibly damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,351,123 (GRCm39) |
D162G |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,608,727 (GRCm39) |
|
probably null |
Het |
| Ndufv2 |
T |
C |
17: 66,396,466 (GRCm39) |
N47S |
possibly damaging |
Het |
| Npepl1 |
T |
A |
2: 173,956,181 (GRCm39) |
|
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,907 (GRCm39) |
D199V |
probably damaging |
Het |
| Otud7b |
C |
T |
3: 96,060,807 (GRCm39) |
Q441* |
probably null |
Het |
| Pard3b |
A |
C |
1: 62,518,963 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,494,495 (GRCm39) |
E143G |
probably damaging |
Het |
| Pphln1 |
C |
A |
15: 93,386,864 (GRCm39) |
Q321K |
probably damaging |
Het |
| Rnf121 |
A |
G |
7: 101,691,862 (GRCm39) |
S2P |
probably damaging |
Het |
| Slc25a42 |
G |
A |
8: 70,639,250 (GRCm39) |
R276C |
possibly damaging |
Het |
| Smgc |
T |
C |
15: 91,743,986 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
C |
T |
1: 156,129,397 (GRCm39) |
M104I |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,027,632 (GRCm39) |
N457K |
probably benign |
Het |
| Zfp474 |
T |
C |
18: 52,771,655 (GRCm39) |
S103P |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,348 (GRCm39) |
N127S |
probably benign |
Het |
|
| Other mutations in Asic2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5005:Asic2
|
UTSW |
11 |
80,774,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation