Incidental Mutation 'R8890:Gabra1'
| ID |
677641 |
| 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 |
068694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R8890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
42021766-42073757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42024553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 374
(Y374F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020707]
[ENSMUST00000205546]
[ENSMUST00000206105]
|
| AlphaFold |
P62812 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020707
AA Change: Y374F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803
AA Change: Y374F
| 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: ENSMUST00000205546
AA Change: Y374F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206105
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
G |
A |
X: 69,437,994 (GRCm39) |
R100W |
possibly damaging |
Het |
| Acrv1 |
A |
T |
9: 36,604,608 (GRCm39) |
M1L |
probably benign |
Het |
| Adam23 |
G |
A |
1: 63,624,524 (GRCm39) |
G784D |
possibly damaging |
Het |
| Astl |
A |
T |
2: 127,198,479 (GRCm39) |
M365L |
probably benign |
Het |
| C1ql3 |
T |
A |
2: 13,015,184 (GRCm39) |
T159S |
|
Het |
| Ccser2 |
T |
G |
14: 36,601,352 (GRCm39) |
D344A |
probably damaging |
Het |
| Cox11 |
A |
C |
11: 90,534,599 (GRCm39) |
I214L |
probably damaging |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,185,502 (GRCm39) |
Y213F |
probably damaging |
Het |
| Cyp2j5 |
T |
A |
4: 96,522,555 (GRCm39) |
I340F |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,829,349 (GRCm39) |
F664L |
probably damaging |
Het |
| Eif3j2 |
A |
G |
18: 43,610,276 (GRCm39) |
L179P |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,656,902 (GRCm39) |
M84K |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,358,436 (GRCm39) |
V58A |
probably benign |
Het |
| Glt28d2 |
A |
T |
3: 85,779,359 (GRCm39) |
V38D |
possibly damaging |
Het |
| Grid2 |
A |
T |
6: 63,233,923 (GRCm39) |
H28L |
probably benign |
Het |
| Hat1 |
G |
A |
2: 71,269,137 (GRCm39) |
R355K |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,953,657 (GRCm39) |
Y658H |
possibly damaging |
Het |
| Hsh2d |
T |
C |
8: 72,951,690 (GRCm39) |
F108S |
probably damaging |
Het |
| Il17rc |
G |
T |
6: 113,456,031 (GRCm39) |
C292F |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,660,861 (GRCm39) |
D576G |
possibly damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,389,515 (GRCm39) |
D652G |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,366,624 (GRCm39) |
S420R |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,888 (GRCm39) |
T599A |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,754,954 (GRCm39) |
E243V |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,006,882 (GRCm39) |
S714P |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mipep |
G |
T |
14: 61,109,506 (GRCm39) |
A628S |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mterf3 |
C |
T |
13: 67,064,676 (GRCm39) |
|
probably null |
Het |
| Myh15 |
C |
A |
16: 48,959,130 (GRCm39) |
L1001I |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,541,565 (GRCm39) |
M1385I |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,926,784 (GRCm39) |
|
probably benign |
Het |
| Nphs1 |
C |
T |
7: 30,162,080 (GRCm39) |
R270W |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,438,484 (GRCm39) |
S1552T |
probably benign |
Het |
| Or10ag60 |
A |
T |
2: 87,438,412 (GRCm39) |
I227F |
probably damaging |
Het |
| Or10j5 |
G |
A |
1: 172,785,045 (GRCm39) |
V228M |
probably benign |
Het |
| Or52ae9 |
G |
T |
7: 103,389,675 (GRCm39) |
F257L |
probably damaging |
Het |
| Or52r1 |
A |
T |
7: 102,536,699 (GRCm39) |
Y220* |
probably null |
Het |
| Pcdh7 |
A |
T |
5: 57,876,717 (GRCm39) |
I91F |
probably damaging |
Het |
| Pheta2 |
G |
T |
15: 82,227,618 (GRCm39) |
V46F |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,216,330 (GRCm39) |
R1394G |
|
Het |
| Pramel28 |
G |
T |
4: 143,691,494 (GRCm39) |
Q410K |
probably benign |
Het |
| Psmd1 |
G |
A |
1: 86,012,914 (GRCm39) |
R361Q |
probably damaging |
Het |
| Ralb |
G |
A |
1: 119,411,246 (GRCm39) |
T31M |
probably damaging |
Het |
| Rassf4 |
T |
A |
6: 116,617,305 (GRCm39) |
K233N |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 51,988,875 (GRCm39) |
F756S |
probably damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,501 (GRCm39) |
D556N |
possibly damaging |
Het |
| Scai |
T |
C |
2: 39,040,400 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
A |
G |
12: 51,474,678 (GRCm39) |
T478A |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,911,994 (GRCm39) |
I288N |
possibly damaging |
Het |
| Sult1e1 |
C |
T |
5: 87,727,719 (GRCm39) |
V188I |
probably benign |
Het |
| Tmco1 |
A |
G |
1: 167,143,814 (GRCm39) |
R82G |
|
Het |
| Tmem109 |
T |
C |
19: 10,849,235 (GRCm39) |
S207G |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,578,497 (GRCm39) |
T657A |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,243,640 (GRCm39) |
T621A |
probably benign |
Het |
| Zbtb40 |
A |
G |
4: 136,725,897 (GRCm39) |
L554P |
probably damaging |
Het |
| Zfp131 |
A |
T |
13: 120,244,338 (GRCm39) |
M114K |
probably damaging |
Het |
| Zfp532 |
C |
T |
18: 65,757,404 (GRCm39) |
P446S |
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 |
|
|
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 |
|
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'- AGCAGCGGAAAGGCTATTC -3'
(R):5'- GAAAGGTTACAAAACATCATCTGGC -3'
Sequencing Primer
(F):5'- CGGAAAGGCTATTCTTGACAGTC -3'
(R):5'- TCTTCTCCAGCCAAAGAA -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation