Incidental Mutation 'IGL02451:Asic2'
| ID |
293668 |
| 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 # |
IGL02451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
80770989-81859222 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 80782563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021045]
[ENSMUST00000066197]
|
| AlphaFold |
Q925H0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021045
|
| SMART Domains |
Protein: ENSMUSP00000021045
Gene: ENSMUSG00000020704
| 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 benign
Transcript: ENSMUST00000066197
|
| SMART Domains |
Protein: ENSMUSP00000067095
Gene: ENSMUSG00000020704
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
| Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
| Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
| Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
| Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
| Hgfac |
T |
G |
5: 35,201,158 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,604 (GRCm39) |
Y124H |
probably damaging |
Het |
| Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
| Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
| Mrpl37 |
T |
A |
4: 106,923,839 (GRCm39) |
I52F |
probably damaging |
Het |
| Mtrex |
C |
T |
13: 113,027,881 (GRCm39) |
V660M |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
| Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
| Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
| Pou6f1 |
T |
C |
15: 100,477,821 (GRCm39) |
T166A |
possibly damaging |
Het |
| Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
| Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
| Rnf207 |
C |
T |
4: 152,396,869 (GRCm39) |
R425H |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
| Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
| Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
| Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
| Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
| Trpc7 |
A |
G |
13: 56,970,274 (GRCm39) |
S382P |
probably damaging |
Het |
| Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
| Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Zfp532 |
A |
G |
18: 65,756,672 (GRCm39) |
R202G |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,787,601 (GRCm39) |
S256P |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
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 |
|
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 |
2015-04-16 |
Incidental Mutation