Incidental Mutation 'R2991:Asic2'
ID |
477461 |
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 # |
R2991 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
80770989-81859222 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 81858863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 50
(V50L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066197]
|
AlphaFold |
Q925H0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066197
AA Change: V50L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067095 Gene: ENSMUSG00000020704 AA Change: V50L
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
T |
A |
9: 30,832,690 (GRCm39) |
T282S |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,823,521 (GRCm39) |
M324V |
possibly damaging |
Het |
Cdcp3 |
A |
T |
7: 130,848,429 (GRCm39) |
D861V |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,607,547 (GRCm39) |
V427D |
probably damaging |
Het |
Col3a1 |
C |
A |
1: 45,374,939 (GRCm39) |
|
probably benign |
Het |
Esp24 |
A |
T |
17: 39,350,894 (GRCm39) |
E31D |
possibly damaging |
Het |
Igkv14-100 |
T |
A |
6: 68,496,335 (GRCm39) |
L76* |
probably null |
Het |
Itsn2 |
T |
C |
12: 4,708,474 (GRCm39) |
V843A |
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,741,946 (GRCm39) |
S663P |
probably benign |
Het |
Lsg1 |
T |
C |
16: 30,380,547 (GRCm39) |
N630S |
probably damaging |
Het |
Lypd8l |
C |
T |
11: 58,501,516 (GRCm39) |
V156I |
possibly damaging |
Het |
Msh4 |
A |
G |
3: 153,611,497 (GRCm39) |
V42A |
probably benign |
Het |
Nkx6-1 |
T |
C |
5: 101,807,401 (GRCm39) |
Y327C |
probably damaging |
Het |
Or9i1b |
G |
A |
19: 13,896,675 (GRCm39) |
C97Y |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,114,539 (GRCm39) |
S369P |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,704,137 (GRCm39) |
I600V |
probably benign |
Het |
Plekhg6 |
T |
C |
6: 125,347,432 (GRCm39) |
E479G |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rgmb |
A |
T |
17: 16,041,352 (GRCm39) |
D78E |
probably damaging |
Het |
Samd12 |
C |
T |
15: 53,723,592 (GRCm39) |
E34K |
probably damaging |
Het |
Slc22a21 |
T |
G |
11: 53,850,195 (GRCm39) |
E220A |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,339,982 (GRCm39) |
E430G |
probably damaging |
Het |
Snx15 |
C |
A |
19: 6,171,515 (GRCm39) |
L186F |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,568,525 (GRCm39) |
E1557G |
probably benign |
Het |
Vwa8 |
A |
T |
14: 79,232,589 (GRCm39) |
T644S |
probably benign |
Het |
Zcchc4 |
T |
A |
5: 52,961,780 (GRCm39) |
F247Y |
probably damaging |
Het |
Zmynd11 |
A |
G |
13: 9,745,858 (GRCm39) |
V165A |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-05-15 |