Incidental Mutation 'IGL02474:Gabra6'
| ID |
294865 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabra6
|
| Ensembl Gene |
ENSMUSG00000020428 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 6 |
| Synonyms |
alpha6, GABA-ARalpha6, Gabra-6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
42197264-42211899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42198244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 402
(V402A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020703]
[ENSMUST00000109286]
[ENSMUST00000155218]
|
| AlphaFold |
P16305 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020703
AA Change: V392A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: V392A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
32 |
230 |
2.4e-43 |
PFAM |
|
Pfam:Neur_chan_memb
|
237 |
378 |
9.3e-43 |
PFAM |
|
transmembrane domain
|
413 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109286
AA Change: V401A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: V401A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
31 |
239 |
2.4e-53 |
PFAM |
|
Pfam:Neur_chan_memb
|
246 |
387 |
9.7e-43 |
PFAM |
|
transmembrane domain
|
422 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155218
AA Change: V402A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: V402A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
32 |
240 |
2e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
393 |
6.3e-35 |
PFAM |
|
transmembrane domain
|
423 |
440 |
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.] 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal cerebellar cytoarchitecture and normal responses to ethanol, pentobarbital and general anesthetics. Mice homozygous for a reporter allele are behaviorally normal and lack a cochlear phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,038,491 (GRCm39) |
E283G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,982,297 (GRCm39) |
I1194V |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,943,127 (GRCm39) |
N1149Y |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,393,480 (GRCm39) |
I131V |
probably benign |
Het |
| Cacna1s |
A |
C |
1: 136,046,118 (GRCm39) |
T1461P |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,883,397 (GRCm39) |
S113P |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
| Cramp1 |
A |
G |
17: 25,204,024 (GRCm39) |
V318A |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,214,975 (GRCm39) |
V163A |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,669,708 (GRCm39) |
D439G |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,991,180 (GRCm39) |
|
probably null |
Het |
| Dyrk4 |
C |
A |
6: 126,857,194 (GRCm39) |
C495F |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,568,538 (GRCm39) |
M643V |
possibly damaging |
Het |
| Gbp9 |
A |
T |
5: 105,242,433 (GRCm39) |
|
probably benign |
Het |
| Ginm1 |
A |
G |
10: 7,653,532 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
A |
11: 77,394,217 (GRCm39) |
D282E |
probably damaging |
Het |
| Gm5799 |
T |
C |
14: 43,782,086 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm9894 |
T |
C |
13: 67,913,213 (GRCm39) |
|
noncoding transcript |
Het |
| Gng12 |
A |
G |
6: 66,992,745 (GRCm39) |
K4R |
probably benign |
Het |
| Hnrnpul1 |
A |
T |
7: 25,426,182 (GRCm39) |
D556E |
probably benign |
Het |
| Kat6b |
T |
A |
14: 21,719,107 (GRCm39) |
L1153Q |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,213,526 (GRCm39) |
L17Q |
probably null |
Het |
| Mc5r |
T |
C |
18: 68,471,910 (GRCm39) |
F90L |
probably damaging |
Het |
| Or1x2 |
C |
A |
11: 50,918,192 (GRCm39) |
A121D |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,645,019 (GRCm39) |
S18T |
probably benign |
Het |
| Or6b13 |
T |
C |
7: 139,782,500 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,682,897 (GRCm39) |
M284K |
probably damaging |
Het |
| Or8b9 |
A |
T |
9: 37,766,656 (GRCm39) |
I181L |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,143,293 (GRCm39) |
Y6N |
probably damaging |
Het |
| Polr2g |
C |
A |
19: 8,775,820 (GRCm39) |
|
probably null |
Het |
| Psme3 |
A |
G |
11: 101,208,480 (GRCm39) |
Q82R |
probably benign |
Het |
| Rab11a |
G |
T |
9: 64,633,929 (GRCm39) |
T17K |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,940,017 (GRCm39) |
L85Q |
probably damaging |
Het |
| Skap1 |
A |
T |
11: 96,599,512 (GRCm39) |
Y188F |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,326,536 (GRCm39) |
F34I |
probably damaging |
Het |
| Trip12 |
A |
C |
1: 84,771,854 (GRCm39) |
I98S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,708,532 (GRCm39) |
|
probably benign |
Het |
| Ube2t |
A |
T |
1: 134,899,079 (GRCm39) |
K21* |
probably null |
Het |
| Vmn1r216 |
T |
C |
13: 23,283,647 (GRCm39) |
V110A |
possibly damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,150 (GRCm39) |
F736I |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,845,158 (GRCm39) |
T2081A |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
|
| Other mutations in Gabra6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Gabra6
|
APN |
11 |
42,207,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01553:Gabra6
|
APN |
11 |
42,206,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01801:Gabra6
|
APN |
11 |
42,205,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Gabra6
|
APN |
11 |
42,205,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03111:Gabra6
|
APN |
11 |
42,207,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Gabra6
|
UTSW |
11 |
42,205,798 (GRCm39) |
missense |
probably benign |
|
|
R0206:Gabra6
|
UTSW |
11 |
42,207,906 (GRCm39) |
nonsense |
probably null |
|
|
R0240:Gabra6
|
UTSW |
11 |
42,205,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0726:Gabra6
|
UTSW |
11 |
42,205,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0745:Gabra6
|
UTSW |
11 |
42,207,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0751:Gabra6
|
UTSW |
11 |
42,205,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0789:Gabra6
|
UTSW |
11 |
42,205,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1666:Gabra6
|
UTSW |
11 |
42,208,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Gabra6
|
UTSW |
11 |
42,207,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2317:Gabra6
|
UTSW |
11 |
42,208,607 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3605:Gabra6
|
UTSW |
11 |
42,205,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Gabra6
|
UTSW |
11 |
42,198,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Gabra6
|
UTSW |
11 |
42,198,317 (GRCm39) |
missense |
probably benign |
|
|
R5929:Gabra6
|
UTSW |
11 |
42,208,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5930:Gabra6
|
UTSW |
11 |
42,198,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5931:Gabra6
|
UTSW |
11 |
42,198,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6155:Gabra6
|
UTSW |
11 |
42,207,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:Gabra6
|
UTSW |
11 |
42,208,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Gabra6
|
UTSW |
11 |
42,208,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Gabra6
|
UTSW |
11 |
42,207,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Gabra6
|
UTSW |
11 |
42,211,868 (GRCm39) |
splice site |
probably null |
|
|
R7869:Gabra6
|
UTSW |
11 |
42,207,322 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7949:Gabra6
|
UTSW |
11 |
42,207,826 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8199:Gabra6
|
UTSW |
11 |
42,207,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Gabra6
|
UTSW |
11 |
42,210,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Gabra6
|
UTSW |
11 |
42,205,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Gabra6
|
UTSW |
11 |
42,198,289 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation