Incidental Mutation 'IGL01965:Gabra2'
| ID |
182513 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabra2
|
| Ensembl Gene |
ENSMUSG00000000560 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 2 |
| Synonyms |
C630048P16Rik, Gabra-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL01965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
71115735-71253192 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 71165418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000572]
[ENSMUST00000197284]
[ENSMUST00000198625]
|
| AlphaFold |
P26048 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000572
|
| SMART Domains |
Protein: ENSMUSP00000000572
Gene: ENSMUSG00000000560
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
42 |
250 |
1.9e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
257 |
344 |
1.2e-32 |
PFAM |
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
410 |
N/A |
INTRINSIC |
|
transmembrane domain
|
423 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197284
|
| SMART Domains |
Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
42 |
250 |
2.7e-53 |
PFAM |
|
Pfam:Neur_chan_memb
|
257 |
354 |
5.6e-38 |
PFAM |
|
Pfam:Neur_chan_memb
|
343 |
437 |
1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198625
|
| SMART Domains |
Protein: ENSMUSP00000143645
Gene: ENSMUSG00000000560
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
SCOP:d1i9ba_
|
47 |
87 |
7e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199861
|
| 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
T |
A |
10: 51,633,078 (GRCm39) |
|
noncoding transcript |
Het |
| Adm |
C |
T |
7: 110,227,832 (GRCm39) |
L67F |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,939 (GRCm39) |
R194* |
probably null |
Het |
| Brat1 |
T |
C |
5: 140,703,811 (GRCm39) |
V688A |
probably benign |
Het |
| Cep57 |
T |
A |
9: 13,732,816 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
G |
A |
17: 80,576,279 (GRCm39) |
R604W |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,777,842 (GRCm39) |
I1121T |
probably benign |
Het |
| Fry |
A |
G |
5: 150,305,086 (GRCm39) |
E597G |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,738,282 (GRCm39) |
D2207G |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,570,740 (GRCm39) |
M265K |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,923,225 (GRCm39) |
V1195M |
probably benign |
Het |
| Itga2 |
C |
A |
13: 114,984,600 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,637,677 (GRCm39) |
H494R |
probably damaging |
Het |
| Itpkb |
C |
A |
1: 180,159,970 (GRCm39) |
T32K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,690,325 (GRCm39) |
D252E |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,187 (GRCm39) |
Y681H |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,470 (GRCm39) |
V198E |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,500,951 (GRCm39) |
D554G |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,517 (GRCm39) |
|
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,594,371 (GRCm39) |
|
probably benign |
Het |
| Or4c116 |
G |
A |
2: 88,942,535 (GRCm39) |
T107I |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,780 (GRCm39) |
F63L |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,918 (GRCm39) |
F257I |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,050,173 (GRCm39) |
W319R |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,237,888 (GRCm39) |
A717T |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,855,317 (GRCm39) |
K514I |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,314,777 (GRCm39) |
L1636H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,063 (GRCm39) |
T79A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,847,182 (GRCm39) |
|
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,463,023 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
T |
16: 93,922,037 (GRCm39) |
Y294F |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,100,952 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,705,879 (GRCm39) |
L1528P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,754,802 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
G |
T |
10: 130,314,924 (GRCm39) |
L221I |
possibly damaging |
Het |
|
| Other mutations in Gabra2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Gabra2
|
APN |
5 |
71,119,415 (GRCm39) |
missense |
probably benign |
|
|
IGL01084:Gabra2
|
APN |
5 |
71,163,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01948:Gabra2
|
APN |
5 |
71,119,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Gabra2
|
APN |
5 |
71,130,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Gabra2
|
UTSW |
5 |
71,130,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0751:Gabra2
|
UTSW |
5 |
71,249,442 (GRCm39) |
splice site |
probably benign |
|
|
R1025:Gabra2
|
UTSW |
5 |
71,130,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Gabra2
|
UTSW |
5 |
71,171,906 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1964:Gabra2
|
UTSW |
5 |
71,171,793 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3861:Gabra2
|
UTSW |
5 |
71,130,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Gabra2
|
UTSW |
5 |
71,165,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4192:Gabra2
|
UTSW |
5 |
71,165,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4193:Gabra2
|
UTSW |
5 |
71,165,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6281:Gabra2
|
UTSW |
5 |
71,192,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Gabra2
|
UTSW |
5 |
71,119,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6814:Gabra2
|
UTSW |
5 |
71,251,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6872:Gabra2
|
UTSW |
5 |
71,251,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Gabra2
|
UTSW |
5 |
71,165,315 (GRCm39) |
nonsense |
probably null |
|
|
R8253:Gabra2
|
UTSW |
5 |
71,249,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8679:Gabra2
|
UTSW |
5 |
71,170,040 (GRCm39) |
splice site |
probably benign |
|
|
R8953:Gabra2
|
UTSW |
5 |
71,163,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:Gabra2
|
UTSW |
5 |
71,165,353 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9659:Gabra2
|
UTSW |
5 |
71,192,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9788:Gabra2
|
UTSW |
5 |
71,192,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Gabra2
|
UTSW |
5 |
71,165,335 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2014-05-07 |
Incidental Mutation