Incidental Mutation 'IGL01084:Gabra2'
| ID |
51065 |
| 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 # |
IGL01084
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
71115735-71253192 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71163576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 244
(F244L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142892
(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 damaging
Transcript: ENSMUST00000197284
AA Change: F244L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560
AA Change: F244L
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
C |
A |
9: 63,546,901 (GRCm39) |
Q284K |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,216,656 (GRCm39) |
N341I |
probably benign |
Het |
| Arhgap40 |
T |
C |
2: 158,385,138 (GRCm39) |
F457S |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Catsper1 |
G |
A |
19: 5,387,800 (GRCm39) |
V360M |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,969,839 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
C |
T |
2: 155,840,313 (GRCm39) |
H2424Y |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,174,426 (GRCm39) |
E304G |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,924,663 (GRCm39) |
C177* |
probably null |
Het |
| Epha5 |
G |
A |
5: 84,218,946 (GRCm39) |
R917* |
probably null |
Het |
| Gars1 |
C |
A |
6: 55,032,812 (GRCm39) |
D261E |
probably benign |
Het |
| Gata3os |
A |
G |
2: 9,887,884 (GRCm39) |
|
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,691,976 (GRCm39) |
K98E |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,904,110 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,679,245 (GRCm39) |
K300E |
probably benign |
Het |
| Mesp1 |
A |
G |
7: 79,442,831 (GRCm39) |
S149P |
probably benign |
Het |
| Mmp10 |
T |
C |
9: 7,505,651 (GRCm39) |
V305A |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,397,186 (GRCm39) |
|
probably benign |
Het |
| Myof |
T |
C |
19: 37,924,884 (GRCm39) |
T1181A |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,353 (GRCm39) |
L27Q |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,347 (GRCm39) |
S94P |
probably benign |
Het |
| Or9i16 |
G |
T |
19: 13,864,866 (GRCm39) |
T236N |
probably damaging |
Het |
| Osbpl11 |
T |
C |
16: 33,047,221 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,095,573 (GRCm39) |
V359A |
probably benign |
Het |
| Ptch1 |
T |
A |
13: 63,691,451 (GRCm39) |
E267D |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,848,941 (GRCm39) |
E1049G |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,071,947 (GRCm39) |
|
probably null |
Het |
| Sec23b |
A |
G |
2: 144,406,509 (GRCm39) |
I101M |
possibly damaging |
Het |
| Srms |
A |
C |
2: 180,848,177 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
A |
4: 58,111,419 (GRCm39) |
T1067S |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem127 |
T |
C |
2: 127,099,006 (GRCm39) |
V180A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,184,826 (GRCm39) |
|
probably null |
Het |
| Tti1 |
C |
T |
2: 157,824,379 (GRCm39) |
V1025I |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,433 (GRCm39) |
Y753C |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,881,525 (GRCm39) |
L1350S |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,604,716 (GRCm39) |
Y730* |
probably null |
Het |
| Zfp583 |
A |
G |
7: 6,320,184 (GRCm39) |
F276S |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,921,780 (GRCm39) |
Y636H |
probably benign |
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 |
|
|
IGL01948:Gabra2
|
APN |
5 |
71,119,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01965:Gabra2
|
APN |
5 |
71,165,418 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-06-21 |
Incidental Mutation