Incidental Mutation 'R1025:Gabra2'
| ID |
94875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabra2
|
| Ensembl Gene |
ENSMUSG00000000560 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 2 |
| Synonyms |
C630048P16Rik, Gabra-2 |
| MMRRC Submission |
039127-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1025 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
71115735-71253192 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71130938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 297
(S297G)
|
| 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: S297G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560
AA Change: S297G
| 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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
A |
T |
17: 48,401,030 (GRCm39) |
K105M |
probably damaging |
Het |
| 3110009E18Rik |
C |
T |
1: 120,099,192 (GRCm39) |
T95I |
probably damaging |
Het |
| Acte1 |
A |
G |
7: 143,450,127 (GRCm39) |
Y291C |
probably damaging |
Het |
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,545,571 (GRCm39) |
A75T |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,792,826 (GRCm39) |
N434S |
probably benign |
Het |
| Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
| Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,871,057 (GRCm39) |
I300F |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,819,780 (GRCm39) |
S5171* |
probably null |
Het |
| Irak3 |
A |
T |
10: 120,012,251 (GRCm39) |
I171N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,059,893 (GRCm39) |
I661V |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,609 (GRCm39) |
D2384G |
probably damaging |
Het |
| Or14a260 |
T |
C |
7: 85,985,113 (GRCm39) |
M164V |
probably benign |
Het |
| Or6b2b |
T |
A |
1: 92,419,445 (GRCm39) |
T11S |
probably benign |
Het |
| Pdcd6ip |
G |
A |
9: 113,491,354 (GRCm39) |
L630F |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,527,326 (GRCm39) |
|
probably null |
Het |
| Slc26a4 |
T |
G |
12: 31,578,736 (GRCm39) |
D639A |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,087,817 (GRCm39) |
C1754Y |
possibly damaging |
Het |
| Trpa1 |
C |
A |
1: 14,974,407 (GRCm39) |
M258I |
probably benign |
Het |
| Vmn1r17 |
A |
T |
6: 57,338,240 (GRCm39) |
S42T |
probably benign |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,228 (GRCm39) |
F313L |
probably benign |
Het |
| Zfp811 |
A |
G |
17: 33,017,618 (GRCm39) |
Y140H |
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 |
|
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGAACAACCCTCTGAAAATTGG -3'
(R):5'- TAGCGCCTGCATTGCATCACAAC -3'
Sequencing Primer
(F):5'- TCTCTTAGATAAGATCAGATGGGGC -3'
(R):5'- ATCAAGGCACTTTCAGGGTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation