Incidental Mutation 'R5722:Asic2'
| ID |
452280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asic2
|
| Ensembl Gene |
ENSMUSG00000020704 |
| Gene Name |
acid-sensing ion channel 2 |
| Synonyms |
BNaC1a, Mdeg, BNC1, Accn1 |
| MMRRC Submission |
043340-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5722 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
80770989-81859222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81858806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 69
(S69T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066197]
|
| AlphaFold |
Q925H0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066197
AA Change: S69T
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000067095
Gene: ENSMUSG00000020704
AA Change: S69T
| 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: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
G |
A |
3: 32,772,194 (GRCm39) |
R164H |
probably damaging |
Het |
| Afg3l2 |
A |
G |
18: 67,573,269 (GRCm39) |
Y178H |
probably benign |
Het |
| Agtr1a |
A |
G |
13: 30,566,016 (GRCm39) |
*360W |
probably null |
Het |
| Arfgef1 |
A |
G |
1: 10,209,109 (GRCm39) |
V1830A |
probably benign |
Het |
| Axin1 |
A |
T |
17: 26,401,531 (GRCm39) |
N368Y |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,898,473 (GRCm39) |
E537G |
probably damaging |
Het |
| Ces1d |
G |
A |
8: 93,904,756 (GRCm39) |
P328L |
probably benign |
Het |
| Cndp2 |
T |
A |
18: 84,686,203 (GRCm39) |
K461* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,620,852 (GRCm39) |
H977L |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Glg1 |
T |
C |
8: 111,896,194 (GRCm39) |
T177A |
possibly damaging |
Het |
| Gm7168 |
T |
C |
17: 14,169,824 (GRCm39) |
V397A |
probably benign |
Het |
| Hif1a |
T |
A |
12: 73,988,533 (GRCm39) |
D535E |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ice1 |
T |
C |
13: 70,763,219 (GRCm39) |
E173G |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,329,909 (GRCm39) |
V115A |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,271,831 (GRCm39) |
E101D |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kyat1 |
C |
T |
2: 30,078,123 (GRCm39) |
C127Y |
probably damaging |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,755 (GRCm39) |
H282R |
probably benign |
Het |
| Npsr1 |
C |
A |
9: 24,225,096 (GRCm39) |
P368Q |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,401,872 (GRCm39) |
V839M |
probably damaging |
Het |
| Or51a43 |
T |
A |
7: 103,717,930 (GRCm39) |
M103L |
probably damaging |
Het |
| Or6n2 |
G |
T |
1: 173,897,436 (GRCm39) |
D191Y |
probably damaging |
Het |
| P4ha3 |
A |
G |
7: 99,955,198 (GRCm39) |
D351G |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,479,160 (GRCm39) |
|
probably null |
Het |
| Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
G |
T |
1: 133,031,574 (GRCm39) |
G1505W |
probably damaging |
Het |
| Plppr5 |
A |
T |
3: 117,414,714 (GRCm39) |
I112L |
probably benign |
Het |
| Potefam1 |
T |
A |
2: 111,034,468 (GRCm39) |
T355S |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,522,226 (GRCm39) |
I575T |
possibly damaging |
Het |
| Ranbp3l |
A |
G |
15: 9,029,656 (GRCm39) |
E46G |
probably damaging |
Het |
| Rbm46 |
A |
G |
3: 82,772,640 (GRCm39) |
V164A |
possibly damaging |
Het |
| Sap25 |
A |
G |
5: 137,639,713 (GRCm39) |
E13G |
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,899,860 (GRCm39) |
V1269E |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,726,109 (GRCm39) |
S18R |
possibly damaging |
Het |
| Snrk |
T |
C |
9: 121,993,072 (GRCm39) |
I345T |
probably benign |
Het |
| Sp4 |
T |
A |
12: 118,262,976 (GRCm39) |
I357F |
possibly damaging |
Het |
| Sra1 |
A |
G |
18: 36,808,031 (GRCm39) |
L399P |
probably damaging |
Het |
| Stat6 |
A |
G |
10: 127,494,242 (GRCm39) |
T658A |
probably benign |
Het |
| Sv2a |
G |
A |
3: 96,092,339 (GRCm39) |
R13H |
probably benign |
Het |
| Thoc3 |
G |
T |
13: 54,608,014 (GRCm39) |
T310N |
probably damaging |
Het |
| Tox3 |
A |
C |
8: 91,074,489 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
G |
9: 8,680,550 (GRCm39) |
E848G |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,538,590 (GRCm39) |
T34703S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,776,312 (GRCm39) |
I1577V |
probably damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Ugt2b36 |
C |
T |
5: 87,240,297 (GRCm39) |
W29* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
| Zfp790 |
C |
A |
7: 29,529,514 (GRCm39) |
S733* |
probably null |
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 |
|
|
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 |
|
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'- TCAGGAATCTGCAAGTTGACATC -3'
(R):5'- CCTGAAGCCAGTTGCAGAAC -3'
Sequencing Primer
(F):5'- TTGACATCCAACAGGGCCAG -3'
(R):5'- TCCCGATGGACCTCAAGGAGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation