Incidental Mutation 'R6475:Gabra1'
| ID |
517395 |
| 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 |
044608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R6475 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
42021766-42073757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42053382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 84
(M84K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020707]
[ENSMUST00000153147]
[ENSMUST00000205546]
[ENSMUST00000206105]
[ENSMUST00000207274]
|
| AlphaFold |
P62812 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020707
AA Change: M84K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803
AA Change: M84K
| 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 benign
Transcript: ENSMUST00000153147
AA Change: M84K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000129056
Gene: ENSMUSG00000010803
AA Change: M84K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
SCOP:d1i9ba_
|
46 |
84 |
2e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205546
AA Change: M84K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206105
AA Change: M84K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207274
AA Change: M84K
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.8588 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
96% (54/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb5 |
T |
A |
8: 55,003,610 (GRCm39) |
V44E |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
| Ccr4 |
A |
G |
9: 114,322,047 (GRCm39) |
V6A |
probably benign |
Het |
| Cd209a |
A |
T |
8: 3,797,031 (GRCm39) |
D102E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
| Cog4 |
T |
A |
8: 111,607,526 (GRCm39) |
I671N |
possibly damaging |
Het |
| Col14a1 |
T |
G |
15: 55,309,218 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
G |
14: 55,751,110 (GRCm39) |
D173G |
probably damaging |
Het |
| Daglb |
G |
T |
5: 143,467,406 (GRCm39) |
V275L |
probably benign |
Het |
| Defb43 |
G |
T |
14: 63,249,321 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,914,120 (GRCm39) |
V1022A |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,711,312 (GRCm39) |
K297M |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,841,259 (GRCm39) |
I717V |
probably benign |
Het |
| Eif2ak1 |
T |
G |
5: 143,803,765 (GRCm39) |
|
probably null |
Het |
| Epb42 |
T |
C |
2: 120,857,614 (GRCm39) |
Y307C |
possibly damaging |
Het |
| Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
| Fam185a |
A |
G |
5: 21,630,281 (GRCm39) |
D39G |
probably benign |
Het |
| Fbxl4 |
T |
A |
4: 22,433,661 (GRCm39) |
D599E |
probably damaging |
Het |
| Fgfr2 |
T |
A |
7: 129,802,850 (GRCm39) |
T268S |
probably benign |
Het |
| Gba1 |
A |
G |
3: 89,113,235 (GRCm39) |
D222G |
probably benign |
Het |
| Gm3409 |
T |
A |
5: 146,474,596 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Gm4559 |
A |
G |
7: 141,827,887 (GRCm39) |
C72R |
unknown |
Het |
| Grik4 |
T |
C |
9: 42,540,304 (GRCm39) |
N292S |
probably benign |
Het |
| Haao |
A |
G |
17: 84,139,113 (GRCm39) |
S274P |
possibly damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,305,329 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
A |
T |
9: 65,027,603 (GRCm39) |
S222C |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Itgb7 |
T |
A |
15: 102,124,701 (GRCm39) |
D772V |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,455,149 (GRCm39) |
L1607P |
probably damaging |
Het |
| Klf5 |
A |
G |
14: 99,538,817 (GRCm39) |
T77A |
probably benign |
Het |
| Klhl29 |
C |
T |
12: 5,141,030 (GRCm39) |
V605I |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,686,447 (GRCm39) |
V105A |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,850,092 (GRCm39) |
|
probably null |
Het |
| Med12l |
A |
G |
3: 59,164,500 (GRCm39) |
E1364G |
probably damaging |
Het |
| Mup9 |
A |
T |
4: 60,375,805 (GRCm39) |
D30E |
possibly damaging |
Het |
| Naip1 |
T |
C |
13: 100,545,596 (GRCm39) |
R1311G |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,604 (GRCm39) |
V140A |
probably benign |
Het |
| Or2v1 |
C |
T |
11: 49,025,760 (GRCm39) |
T247I |
probably benign |
Het |
| Or4f14 |
G |
A |
2: 111,743,204 (GRCm39) |
Q24* |
probably null |
Het |
| Or8g28 |
T |
A |
9: 39,169,378 (GRCm39) |
M197L |
probably benign |
Het |
| Pkd1l3 |
A |
C |
8: 110,349,844 (GRCm39) |
T230P |
unknown |
Het |
| Pthlh |
G |
T |
6: 147,158,688 (GRCm39) |
H91N |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,681,942 (GRCm39) |
V239D |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,749,635 (GRCm39) |
T26I |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,334,586 (GRCm39) |
T615A |
probably damaging |
Het |
| Rpp38 |
T |
C |
2: 3,330,644 (GRCm39) |
D86G |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
| Senp2 |
G |
T |
16: 21,842,550 (GRCm39) |
V205L |
probably damaging |
Het |
| Septin10 |
T |
C |
10: 59,028,133 (GRCm39) |
N63D |
possibly damaging |
Het |
| Sez6 |
A |
G |
11: 77,864,670 (GRCm39) |
|
|
Het |
| Spesp1 |
C |
T |
9: 62,179,715 (GRCm39) |
V398I |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,714,319 (GRCm39) |
G19S |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,646,695 (GRCm39) |
L431* |
probably null |
Het |
| Trdn |
T |
A |
10: 33,340,551 (GRCm39) |
|
probably null |
Het |
| Tubb2a |
A |
G |
13: 34,259,442 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ush1c |
T |
C |
7: 45,878,643 (GRCm39) |
D124G |
probably damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,827 (GRCm39) |
F103L |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,820 (GRCm39) |
S149P |
probably damaging |
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 |
|
|
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 |
|
R8918:Gabra1
|
UTSW |
11 |
42,026,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCAAGTTATGACCAGCAAAGGC -3'
(R):5'- CAGTAGACCAATTTCAGAAATGGC -3'
Sequencing Primer
(F):5'- TCCAATAGCAAGTGGTGAATCC -3'
(R):5'- AGACCAATTTCAGAAATGGCTAATC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation