Incidental Mutation 'R9295:Gabra1'
| ID |
704562 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R9295 (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 42044217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 167
(M167T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020707]
[ENSMUST00000153147]
[ENSMUST00000205546]
[ENSMUST00000206105]
[ENSMUST00000207274]
|
| AlphaFold |
P62812 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020707
AA Change: M167T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803
AA Change: M167T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129056
Gene: ENSMUSG00000010803
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
SCOP:d1i9ba_
|
46 |
84 |
2e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205546
AA Change: M167T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206105
AA Change: M167T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207274
AA Change: M167T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,116 (GRCm39) |
V7E |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,399,938 (GRCm39) |
V156A |
probably benign |
Het |
| Ankrd6 |
A |
T |
4: 32,822,160 (GRCm39) |
V236E |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
C |
A |
7: 100,081,734 (GRCm39) |
D1125E |
|
Het |
| Cacna2d2 |
A |
G |
9: 107,386,419 (GRCm39) |
E182G |
probably benign |
Het |
| Cct3 |
A |
G |
3: 88,212,430 (GRCm39) |
K139E |
probably benign |
Het |
| Cd96 |
G |
T |
16: 45,938,244 (GRCm39) |
Q74K |
probably benign |
Het |
| Cdk5rap1 |
A |
T |
2: 154,194,186 (GRCm39) |
I373N |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,738,051 (GRCm39) |
Y2597* |
probably null |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,290,883 (GRCm39) |
G919E |
probably benign |
Het |
| Col6a4 |
G |
A |
9: 105,957,734 (GRCm39) |
A30V |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,939,823 (GRCm39) |
C655R |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,428,441 (GRCm39) |
V605E |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,811,599 (GRCm39) |
I600T |
possibly damaging |
Het |
| Dhx9 |
C |
A |
1: 153,340,673 (GRCm39) |
V656L |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,363,348 (GRCm39) |
M3970K |
probably benign |
Het |
| Ercc5 |
G |
T |
1: 44,198,017 (GRCm39) |
V145F |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,979 (GRCm39) |
T127A |
possibly damaging |
Het |
| Fcer1a |
T |
C |
1: 173,050,174 (GRCm39) |
Y172C |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,743 (GRCm39) |
H530R |
probably benign |
Het |
| Gli2 |
C |
A |
1: 118,764,996 (GRCm39) |
V1052L |
probably damaging |
Het |
| Gm4491 |
A |
C |
14: 57,351,140 (GRCm39) |
F84C |
unknown |
Het |
| Irf2bp1 |
C |
T |
7: 18,739,740 (GRCm39) |
T460I |
probably benign |
Het |
| Klf3 |
A |
G |
5: 64,980,240 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Krt80 |
T |
C |
15: 101,249,652 (GRCm39) |
E287G |
probably benign |
Het |
| Lama4 |
G |
T |
10: 38,948,747 (GRCm39) |
V837F |
probably damaging |
Het |
| Lrig3 |
G |
T |
10: 125,850,722 (GRCm39) |
C1096F |
probably benign |
Het |
| Mtrr |
T |
C |
13: 68,719,258 (GRCm39) |
R328G |
possibly damaging |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
A |
T |
1: 75,476,721 (GRCm39) |
D744E |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4x13 |
G |
A |
2: 90,231,441 (GRCm39) |
M145I |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,478 (GRCm39) |
T21A |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,752 (GRCm39) |
G1003D |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,904,893 (GRCm39) |
T514A |
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,482,231 (GRCm39) |
E115G |
possibly damaging |
Het |
| Pramel20 |
A |
G |
4: 143,298,704 (GRCm39) |
T216A |
possibly damaging |
Het |
| Pxmp2 |
C |
A |
5: 110,433,944 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,209,209 (GRCm39) |
L1123P |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,416,382 (GRCm39) |
S563P |
probably damaging |
Het |
| Secisbp2 |
T |
G |
13: 51,808,483 (GRCm39) |
S83A |
probably damaging |
Het |
| Sema3c |
T |
A |
5: 17,932,495 (GRCm39) |
M666K |
probably benign |
Het |
| Serbp1 |
G |
T |
6: 67,248,208 (GRCm39) |
D114Y |
probably damaging |
Het |
| Sh3d21 |
T |
A |
4: 126,045,276 (GRCm39) |
T468S |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,098,478 (GRCm39) |
D1319E |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,051,386 (GRCm39) |
R502G |
unknown |
Het |
| Slc25a12 |
C |
A |
2: 71,128,986 (GRCm39) |
G314C |
possibly damaging |
Het |
| Smg8 |
A |
G |
11: 86,968,789 (GRCm39) |
V989A |
probably benign |
Het |
| Spon2 |
G |
A |
5: 33,373,844 (GRCm39) |
P156S |
probably damaging |
Het |
| Stx1a |
A |
G |
5: 135,066,370 (GRCm39) |
N50S |
probably benign |
Het |
| Tmem151b |
C |
A |
17: 45,857,806 (GRCm39) |
V147L |
probably benign |
Het |
| Trim12c |
C |
T |
7: 103,990,391 (GRCm39) |
G362D |
unknown |
Het |
| Tsr1 |
T |
C |
11: 74,799,135 (GRCm39) |
V772A |
probably damaging |
Het |
| Tti2 |
A |
T |
8: 31,643,550 (GRCm39) |
K222* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,218 (GRCm39) |
M294T |
probably null |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,484 (GRCm39) |
E450G |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,785,955 (GRCm39) |
F253I |
probably benign |
Het |
| Wnk4 |
A |
T |
11: 101,160,078 (GRCm39) |
D649V |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,394,525 (GRCm39) |
S1040P |
probably benign |
Het |
| Zfp112 |
C |
T |
7: 23,824,805 (GRCm39) |
R262C |
probably benign |
Het |
| Zfp287 |
T |
A |
11: 62,606,115 (GRCm39) |
D264V |
probably benign |
Het |
| Zfp46 |
T |
C |
4: 136,017,876 (GRCm39) |
C237R |
probably damaging |
Het |
| Zfp773 |
C |
T |
7: 7,135,694 (GRCm39) |
E301K |
probably benign |
Het |
| Zswim2 |
A |
C |
2: 83,748,304 (GRCm39) |
V292G |
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 |
|
R8918:Gabra1
|
UTSW |
11 |
42,026,320 (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'- TTGTGACTCTCCAATAGATCATAACT -3'
(R):5'- AGTCATGGTAGCTCCCTTAGT -3'
Sequencing Primer
(F):5'- ATGGCCTGGACCTCACATGTATAG -3'
(R):5'- AGCTCCCTTAGTTCATTTGGATATTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation