Incidental Mutation 'R8918:Gabra1'
| ID |
679062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabra1
|
| Ensembl Gene |
ENSMUSG00000010803 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
| Synonyms |
GABAA alpha 1, Gabra-1, GABAAR alpha1 |
| MMRRC Submission |
068705-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R8918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
42021766-42073757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42026320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 324
(F324S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020707]
[ENSMUST00000205546]
[ENSMUST00000206105]
|
| AlphaFold |
P62812 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020707
AA Change: F324S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803
AA Change: F324S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
41 |
249 |
1.5e-52 |
PFAM |
|
Pfam:Neur_chan_memb
|
256 |
347 |
8.6e-33 |
PFAM |
|
low complexity region
|
395 |
411 |
N/A |
INTRINSIC |
|
transmembrane domain
|
420 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205546
AA Change: F324S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206105
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,333,315 (GRCm39) |
F480L |
probably damaging |
Het |
| Actr6 |
A |
T |
10: 89,553,057 (GRCm39) |
I267N |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,737,380 (GRCm39) |
S2835P |
unknown |
Het |
| Arfgef3 |
C |
T |
10: 18,511,453 (GRCm39) |
R753Q |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,784,765 (GRCm39) |
T285A |
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,986,473 (GRCm39) |
V520A |
probably benign |
Het |
| Atoh1 |
T |
G |
6: 64,707,241 (GRCm39) |
L312R |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,696,841 (GRCm39) |
K884R |
possibly damaging |
Het |
| Cpt1a |
T |
C |
19: 3,408,258 (GRCm39) |
V179A |
|
Het |
| Crocc2 |
C |
A |
1: 93,129,144 (GRCm39) |
N816K |
possibly damaging |
Het |
| Csf2ra |
A |
T |
19: 61,214,721 (GRCm39) |
V201D |
probably damaging |
Het |
| Dok1 |
C |
T |
6: 83,008,324 (GRCm39) |
V453I |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,662,600 (GRCm39) |
S175P |
probably benign |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,748,733 (GRCm39) |
S357N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,246 (GRCm39) |
T1478A |
probably benign |
Het |
| Gm11437 |
T |
C |
11: 84,043,530 (GRCm39) |
T254A |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,599,706 (GRCm39) |
E726G |
probably damaging |
Het |
| Gstm2 |
A |
T |
3: 107,892,382 (GRCm39) |
C115S |
possibly damaging |
Het |
| Ighv1-12 |
T |
C |
12: 114,579,553 (GRCm39) |
T90A |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,572,703 (GRCm39) |
I690V |
unknown |
Het |
| Kdm3b |
A |
G |
18: 34,970,650 (GRCm39) |
N1739S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,893 (GRCm39) |
N3614K |
|
Het |
| Mapk8ip3 |
A |
G |
17: 25,131,727 (GRCm39) |
L404P |
probably damaging |
Het |
| Mcl1 |
T |
C |
3: 95,567,192 (GRCm39) |
F251S |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,744,579 (GRCm39) |
L4038* |
probably null |
Het |
| Mmp8 |
T |
C |
9: 7,561,485 (GRCm39) |
V163A |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
C |
T |
18: 60,825,083 (GRCm39) |
R745H |
probably benign |
Het |
| Or4d2b |
A |
G |
11: 87,780,284 (GRCm39) |
V146A |
probably benign |
Het |
| Or8c18 |
T |
C |
9: 38,203,385 (GRCm39) |
F48S |
probably benign |
Het |
| Pard3 |
C |
T |
8: 128,098,011 (GRCm39) |
R351C |
probably benign |
Het |
| Pcdhgb4 |
A |
G |
18: 37,855,648 (GRCm39) |
D681G |
probably damaging |
Het |
| Pde10a |
G |
A |
17: 9,160,063 (GRCm39) |
A163T |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,296,505 (GRCm39) |
L123S |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,906,621 (GRCm39) |
D1152G |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,098 (GRCm39) |
T1015A |
probably benign |
Het |
| Rock2 |
C |
T |
12: 16,990,422 (GRCm39) |
Q115* |
probably null |
Het |
| Rorb |
T |
A |
19: 18,915,356 (GRCm39) |
H434L |
probably damaging |
Het |
| Safb2 |
A |
T |
17: 56,882,975 (GRCm39) |
C219* |
probably null |
Het |
| Sema3a |
A |
G |
5: 13,573,099 (GRCm39) |
H209R |
probably damaging |
Het |
| Serpinb9g |
T |
G |
13: 33,679,131 (GRCm39) |
S334A |
probably benign |
Het |
| Slc5a9 |
T |
A |
4: 111,741,147 (GRCm39) |
M500L |
probably benign |
Het |
| Snap91 |
A |
G |
9: 86,651,611 (GRCm39) |
S810P |
unknown |
Het |
| Spink5 |
G |
T |
18: 44,100,087 (GRCm39) |
A35S |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 36,954,892 (GRCm39) |
T887I |
|
Het |
| Tacc2 |
T |
C |
7: 130,227,823 (GRCm39) |
F1503L |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,180,000 (GRCm39) |
E272G |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,015,117 (GRCm39) |
I24F |
probably benign |
Het |
| Tshr |
G |
A |
12: 91,504,211 (GRCm39) |
S383N |
probably benign |
Het |
| Tspan1 |
C |
A |
4: 116,020,970 (GRCm39) |
C149F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,570,862 (GRCm39) |
L26677Q |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,017 (GRCm39) |
F1755I |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,772,873 (GRCm39) |
I4047F |
|
Het |
| Zfp1010 |
A |
C |
2: 176,958,551 (GRCm39) |
S29R |
probably benign |
Het |
| Zfp369 |
T |
A |
13: 65,443,529 (GRCm39) |
L336* |
probably null |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zfp984 |
T |
C |
4: 147,840,623 (GRCm39) |
H76R |
possibly damaging |
Het |
| Zscan10 |
G |
A |
17: 23,826,116 (GRCm39) |
G138S |
probably benign |
Het |
|
| Other mutations in Gabra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Gabra1
|
APN |
11 |
42,024,453 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01645:Gabra1
|
APN |
11 |
42,026,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01893:Gabra1
|
APN |
11 |
42,024,586 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02114:Gabra1
|
APN |
11 |
42,026,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Gabra1
|
APN |
11 |
42,031,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03402:Gabra1
|
APN |
11 |
42,024,345 (GRCm39) |
missense |
probably damaging |
0.96 |
|
opulence
|
UTSW |
11 |
42,053,382 (GRCm39) |
missense |
probably benign |
0.08 |
|
Splendor
|
UTSW |
11 |
42,026,270 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0546:Gabra1
|
UTSW |
11 |
42,053,428 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1495:Gabra1
|
UTSW |
11 |
42,045,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Gabra1
|
UTSW |
11 |
42,031,177 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1850:Gabra1
|
UTSW |
11 |
42,070,403 (GRCm39) |
missense |
probably benign |
|
|
R1989:Gabra1
|
UTSW |
11 |
42,045,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Gabra1
|
UTSW |
11 |
42,024,625 (GRCm39) |
unclassified |
probably benign |
|
|
R3758:Gabra1
|
UTSW |
11 |
42,066,763 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4781:Gabra1
|
UTSW |
11 |
42,024,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4788:Gabra1
|
UTSW |
11 |
42,037,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Gabra1
|
UTSW |
11 |
42,045,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Gabra1
|
UTSW |
11 |
42,024,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5655:Gabra1
|
UTSW |
11 |
42,073,750 (GRCm39) |
splice site |
probably null |
|
|
R5789:Gabra1
|
UTSW |
11 |
42,073,742 (GRCm39) |
unclassified |
probably benign |
|
|
R6273:Gabra1
|
UTSW |
11 |
42,031,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6289:Gabra1
|
UTSW |
11 |
42,045,846 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6298:Gabra1
|
UTSW |
11 |
42,073,205 (GRCm39) |
unclassified |
probably benign |
|
|
R6475:Gabra1
|
UTSW |
11 |
42,053,382 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6552:Gabra1
|
UTSW |
11 |
42,037,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7338:Gabra1
|
UTSW |
11 |
42,073,121 (GRCm39) |
missense |
unknown |
|
|
R7405:Gabra1
|
UTSW |
11 |
42,045,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Gabra1
|
UTSW |
11 |
42,045,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7725:Gabra1
|
UTSW |
11 |
42,026,270 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7727:Gabra1
|
UTSW |
11 |
42,024,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8193:Gabra1
|
UTSW |
11 |
42,037,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8319:Gabra1
|
UTSW |
11 |
42,026,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Gabra1
|
UTSW |
11 |
42,066,831 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8890:Gabra1
|
UTSW |
11 |
42,024,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8905:Gabra1
|
UTSW |
11 |
42,038,052 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9295:Gabra1
|
UTSW |
11 |
42,044,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Gabra1
|
UTSW |
11 |
42,026,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Gabra1
|
UTSW |
11 |
42,045,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9789:Gabra1
|
UTSW |
11 |
42,024,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Gabra1
|
UTSW |
11 |
42,024,565 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGGAGTCCCAGTCACTAC -3'
(R):5'- CTTTGATCAAGGGAACAAGCAC -3'
Sequencing Primer
(F):5'- AGGAGTCCCAGTCACTACTTTCTTG -3'
(R):5'- GGAACAAGCACAGGTCTGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation