Incidental Mutation 'R4192:Gabra2'
| ID |
318349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabra2
|
| Ensembl Gene |
ENSMUSG00000000560 |
| Gene Name |
gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2 |
| Synonyms |
C630048P16Rik, Gabra-2 |
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
70957597-71095849 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71007998 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 210
(P210S)
|
| 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 benign
Transcript: ENSMUST00000197284
AA Change: P210S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560
AA Change: P210S
| 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
|
| Meta Mutation Damage Score |
0.1240 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 36,096,579 (GRCm38) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,043,174 (GRCm38) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,242,524 (GRCm38) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,943,318 (GRCm38) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,483,292 (GRCm38) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,102,716 (GRCm38) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,847,271 (GRCm38) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,207,077 (GRCm38) |
D182E |
probably benign |
Het |
| E330021D16Rik |
T |
C |
6: 136,401,437 (GRCm38) |
T132A |
probably benign |
Het |
| Epb42 |
G |
T |
2: 121,030,089 (GRCm38) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,425,124 (GRCm38) |
|
probably benign |
Het |
| Fam205c |
A |
T |
4: 42,874,185 (GRCm38) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,647,149 (GRCm38) |
D1710G |
probably damaging |
Het |
| Gm8369 |
C |
T |
19: 11,502,232 (GRCm38) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,481,511 (GRCm38) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,507,733 (GRCm38) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 128,064,732 (GRCm38) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,740,513 (GRCm38) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,473,042 (GRCm38) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,407,377 (GRCm38) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,605,534 (GRCm38) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm38) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 56,297,249 (GRCm38) |
F342S |
probably damaging |
Het |
| Olfr934 |
T |
A |
9: 38,983,017 (GRCm38) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,585,229 (GRCm38) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,763,541 (GRCm38) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,258,741 (GRCm38) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,051,959 (GRCm38) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,925,470 (GRCm38) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,155,809 (GRCm38) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,708,378 (GRCm38) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,902,739 (GRCm38) |
T207A |
possibly damaging |
Het |
| Syt12 |
T |
A |
19: 4,447,681 (GRCm38) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,446,657 (GRCm38) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,479,247 (GRCm38) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,586,826 (GRCm38) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,215,827 (GRCm38) |
I14R |
probably damaging |
Het |
|
| Other mutations in Gabra2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Gabra2
|
APN |
5 |
70,962,072 (GRCm38) |
missense |
probably benign |
|
|
IGL01084:Gabra2
|
APN |
5 |
71,006,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01948:Gabra2
|
APN |
5 |
70,961,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01965:Gabra2
|
APN |
5 |
71,008,075 (GRCm38) |
splice site |
probably benign |
|
|
IGL03263:Gabra2
|
APN |
5 |
70,973,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0005:Gabra2
|
UTSW |
5 |
70,973,436 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0751:Gabra2
|
UTSW |
5 |
71,092,099 (GRCm38) |
splice site |
probably benign |
|
|
R1025:Gabra2
|
UTSW |
5 |
70,973,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1713:Gabra2
|
UTSW |
5 |
71,014,563 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1964:Gabra2
|
UTSW |
5 |
71,014,450 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R3861:Gabra2
|
UTSW |
5 |
70,973,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4190:Gabra2
|
UTSW |
5 |
71,007,998 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4193:Gabra2
|
UTSW |
5 |
71,007,998 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6281:Gabra2
|
UTSW |
5 |
71,034,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6419:Gabra2
|
UTSW |
5 |
70,962,083 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6814:Gabra2
|
UTSW |
5 |
71,094,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6872:Gabra2
|
UTSW |
5 |
71,094,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7922:Gabra2
|
UTSW |
5 |
71,007,972 (GRCm38) |
nonsense |
probably null |
|
|
R8253:Gabra2
|
UTSW |
5 |
71,092,070 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8679:Gabra2
|
UTSW |
5 |
71,012,697 (GRCm38) |
splice site |
probably benign |
|
|
R8953:Gabra2
|
UTSW |
5 |
71,006,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9593:Gabra2
|
UTSW |
5 |
71,008,010 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9659:Gabra2
|
UTSW |
5 |
71,034,797 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9788:Gabra2
|
UTSW |
5 |
71,034,797 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Gabra2
|
UTSW |
5 |
71,007,992 (GRCm38) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCATTAATCTATAGATCCCAAGGG -3'
(R):5'- TTCTCAAAGTGGTACCAATGAAAG -3'
Sequencing Primer
(F):5'- AATGTTACTGACCTGTACTG -3'
(R):5'- AAAGTATTTTCATGCTCATGGTTGGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation