Incidental Mutation 'R4190:Gabra2'
| ID |
319908 |
| 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 |
041021-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4190 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
71115735-71253192 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71165341 bp (GRCm39)
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (50/52) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,709,811 (GRCm39) |
Y156C |
unknown |
Het |
| Ankrd13b |
G |
A |
11: 77,367,201 (GRCm39) |
A21V |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,564,499 (GRCm39) |
V914A |
probably damaging |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Calcr |
T |
A |
6: 3,717,106 (GRCm39) |
D118V |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,371,711 (GRCm39) |
V1330A |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,720,885 (GRCm39) |
E2567G |
unknown |
Het |
| Ctse |
T |
A |
1: 131,590,479 (GRCm39) |
V67D |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Dipk1b |
T |
C |
2: 26,526,193 (GRCm39) |
Y376H |
probably damaging |
Het |
| Fahd2a |
C |
T |
2: 127,280,486 (GRCm39) |
V156I |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,864,888 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,772,196 (GRCm39) |
V1125A |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,639,391 (GRCm39) |
C129S |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 27,142,660 (GRCm39) |
L606P |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Mtmr10 |
G |
T |
7: 63,963,934 (GRCm39) |
W223L |
probably benign |
Het |
| Nlgn1 |
T |
A |
3: 25,488,062 (GRCm39) |
T758S |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,171,993 (GRCm39) |
S556P |
probably damaging |
Het |
| Or4c126 |
C |
A |
2: 89,823,918 (GRCm39) |
Y60* |
probably null |
Het |
| Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,968,836 (GRCm39) |
N267S |
possibly damaging |
Het |
| Or6c33 |
A |
T |
10: 129,853,847 (GRCm39) |
I206F |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Plscr5 |
T |
C |
9: 92,080,651 (GRCm39) |
S46P |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 124,424,123 (GRCm38) |
|
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,737,812 (GRCm39) |
V743A |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,714,808 (GRCm39) |
N119K |
probably damaging |
Het |
| Telo2 |
T |
C |
17: 25,320,987 (GRCm39) |
T743A |
probably benign |
Het |
| Trav6-1 |
A |
G |
14: 52,875,976 (GRCm39) |
N2S |
probably benign |
Het |
| Trmt44 |
C |
A |
5: 35,732,314 (GRCm39) |
V26L |
possibly damaging |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,163 (GRCm39) |
L225* |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,556 (GRCm39) |
Y561H |
probably damaging |
Het |
| Yars1 |
T |
A |
4: 129,093,820 (GRCm39) |
C60* |
probably null |
Het |
| Zfp202 |
T |
C |
9: 40,122,633 (GRCm39) |
V465A |
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 |
|
|
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 |
|
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'- GTTTCATTAATCTATAGATCCCAAGGG -3'
(R):5'- AAGTATTTTCATGCTCATGGTTGGC -3'
Sequencing Primer
(F):5'- AATGTTACTGACCTGTACTG -3'
(R):5'- AGGACTTCCTTTCCTCTAAACCTGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation