Incidental Mutation 'R6281:Gabra2'
ID |
507951 |
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 |
044451-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6281 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
71115735-71253192 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71192105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 75
(T75A)
|
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 |
probably damaging
Transcript: ENSMUST00000197284
AA Change: T75A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142892 Gene: ENSMUSG00000000560 AA Change: T75A
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 damaging
Transcript: ENSMUST00000198625
AA Change: T75A
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143645 Gene: ENSMUSG00000000560 AA Change: T75A
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 |
0.2424 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
C |
A |
8: 122,258,620 (GRCm39) |
C166F |
probably damaging |
Het |
Aida |
C |
T |
1: 183,103,145 (GRCm39) |
A237V |
probably damaging |
Het |
Ankib1 |
T |
C |
5: 3,751,965 (GRCm39) |
T692A |
possibly damaging |
Het |
As3mt |
T |
C |
19: 46,713,362 (GRCm39) |
V303A |
possibly damaging |
Het |
Bhlhe40 |
T |
A |
6: 108,641,423 (GRCm39) |
|
probably null |
Het |
Bhmt2 |
G |
A |
13: 93,799,668 (GRCm39) |
P256L |
probably damaging |
Het |
Bpifb1 |
T |
C |
2: 154,048,385 (GRCm39) |
I140T |
probably damaging |
Het |
Cat |
A |
T |
2: 103,302,114 (GRCm39) |
H194Q |
probably damaging |
Het |
Cbfa2t3 |
C |
A |
8: 123,360,148 (GRCm39) |
R466L |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,135,044 (GRCm39) |
V279A |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm3512 |
T |
A |
14: 7,159,254 (GRCm38) |
D7V |
possibly damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,957 (GRCm39) |
F44S |
probably damaging |
Het |
Ighv1-72 |
C |
A |
12: 115,722,023 (GRCm39) |
C5F |
probably benign |
Het |
Lilra6 |
A |
G |
7: 3,914,972 (GRCm39) |
L474P |
probably damaging |
Het |
Mboat2 |
T |
C |
12: 25,007,678 (GRCm39) |
V297A |
probably benign |
Het |
Muc2 |
C |
G |
7: 141,306,140 (GRCm39) |
C276W |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,264,371 (GRCm39) |
S141G |
possibly damaging |
Het |
Or4k77 |
T |
C |
2: 111,199,894 (GRCm39) |
*306R |
probably null |
Het |
Or5p80 |
T |
G |
7: 108,229,609 (GRCm39) |
S137A |
probably benign |
Het |
Pax5 |
T |
G |
4: 44,691,955 (GRCm39) |
E97A |
probably benign |
Het |
Pcdhga11 |
A |
T |
18: 37,890,426 (GRCm39) |
D478V |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Phf21b |
G |
T |
15: 84,738,946 (GRCm39) |
D38E |
probably benign |
Het |
Ptcd1 |
T |
C |
5: 145,101,881 (GRCm39) |
K146R |
probably benign |
Het |
Rad23a |
A |
T |
8: 85,564,739 (GRCm39) |
M166K |
probably damaging |
Het |
Rfc4 |
A |
T |
16: 22,936,816 (GRCm39) |
|
probably null |
Het |
Slc17a3 |
T |
A |
13: 24,040,782 (GRCm39) |
I336N |
probably benign |
Het |
Slc2a12 |
T |
A |
10: 22,541,219 (GRCm39) |
M358K |
probably damaging |
Het |
Stk31 |
T |
G |
6: 49,446,114 (GRCm39) |
M939R |
possibly damaging |
Het |
Tecrl |
T |
A |
5: 83,442,453 (GRCm39) |
T167S |
probably damaging |
Het |
Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
Ttn |
C |
T |
2: 76,772,172 (GRCm39) |
V2577M |
probably damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Vezt |
G |
A |
10: 93,809,808 (GRCm39) |
R578C |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vwa3b |
T |
A |
1: 37,163,063 (GRCm39) |
L562Q |
probably damaging |
Het |
Zfyve27 |
T |
A |
19: 42,171,194 (GRCm39) |
N127K |
probably damaging |
Het |
Znfx1 |
A |
G |
2: 166,897,805 (GRCm39) |
F373S |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,764,708 (GRCm39) |
V693I |
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 |
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 |
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'- ATGCCACTTCGCAGCTAAGTAAG -3'
(R):5'- AGATGAATGTCAAATACTTCTTGGC -3'
Sequencing Primer
(F):5'- CCACTTCGCAGCTAAGTAAGTATATG -3'
(R):5'- CTTCTTGGCATTAATTCTGTTAGTTG -3'
|
Posted On |
2018-03-15 |