Incidental Mutation 'IGL00801:Gabra5'
| ID |
10878 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabra5
|
| Ensembl Gene |
ENSMUSG00000055078 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 5 |
| Synonyms |
A230018I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL00801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
57057420-57159807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 57138736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 104
(W104L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068456]
[ENSMUST00000085240]
[ENSMUST00000206382]
[ENSMUST00000206734]
|
| AlphaFold |
Q8BHJ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068456
AA Change: W104L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: W104L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
49 |
257 |
3e-50 |
PFAM |
|
Pfam:Neur_chan_memb
|
264 |
375 |
2.3e-33 |
PFAM |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
transmembrane domain
|
432 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085240
|
| SMART Domains |
Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
37 |
243 |
5.1e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
250 |
468 |
1.8e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206382
AA Change: W104L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206734
AA Change: W104L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice having disruptions in this gene display abnormalities in hearing and in ear structure. Subtle abnormalities in learning and in conditioning have also been reported. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,928,160 (GRCm39) |
T524A |
possibly damaging |
Het |
| Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
| Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,632,905 (GRCm39) |
Y511H |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,892,767 (GRCm39) |
S316P |
possibly damaging |
Het |
| B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
| Ccn1 |
T |
A |
3: 145,354,365 (GRCm39) |
D182V |
probably damaging |
Het |
| Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
| Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
| Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
| Hnf1b |
C |
T |
11: 83,746,750 (GRCm39) |
A122V |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
| Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
| Nudt5 |
T |
C |
2: 5,871,168 (GRCm39) |
F166S |
probably damaging |
Het |
| Ociad1 |
T |
A |
5: 73,461,909 (GRCm39) |
Y87N |
probably damaging |
Het |
| Qtrt2 |
T |
C |
16: 43,701,552 (GRCm39) |
K3E |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
| Tmem198b |
A |
C |
10: 128,639,014 (GRCm39) |
L43R |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
| Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
| Other mutations in Gabra5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Gabra5
|
APN |
7 |
57,058,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02750:Gabra5
|
APN |
7 |
57,157,739 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4581001:Gabra5
|
UTSW |
7 |
57,138,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Gabra5
|
UTSW |
7 |
57,063,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Gabra5
|
UTSW |
7 |
57,058,641 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1740:Gabra5
|
UTSW |
7 |
57,071,590 (GRCm39) |
missense |
probably benign |
|
|
R1766:Gabra5
|
UTSW |
7 |
57,157,796 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1865:Gabra5
|
UTSW |
7 |
57,138,940 (GRCm39) |
nonsense |
probably null |
|
|
R2024:Gabra5
|
UTSW |
7 |
57,138,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Gabra5
|
UTSW |
7 |
57,138,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Gabra5
|
UTSW |
7 |
57,058,623 (GRCm39) |
missense |
probably benign |
|
|
R2829:Gabra5
|
UTSW |
7 |
57,140,583 (GRCm39) |
missense |
probably benign |
|
|
R2966:Gabra5
|
UTSW |
7 |
57,058,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4014:Gabra5
|
UTSW |
7 |
57,138,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Gabra5
|
UTSW |
7 |
57,063,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Gabra5
|
UTSW |
7 |
57,058,547 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5217:Gabra5
|
UTSW |
7 |
57,140,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5360:Gabra5
|
UTSW |
7 |
57,140,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6021:Gabra5
|
UTSW |
7 |
57,157,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6340:Gabra5
|
UTSW |
7 |
57,063,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Gabra5
|
UTSW |
7 |
57,063,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Gabra5
|
UTSW |
7 |
57,068,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Gabra5
|
UTSW |
7 |
57,140,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Gabra5
|
UTSW |
7 |
57,058,440 (GRCm39) |
missense |
|
|
|
R9487:Gabra5
|
UTSW |
7 |
57,157,873 (GRCm39) |
start gained |
probably benign |
|
|
R9785:Gabra5
|
UTSW |
7 |
57,140,584 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0028:Gabra5
|
UTSW |
7 |
57,138,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation