Incidental Mutation 'R0745:Gabra6'
| ID |
70929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabra6
|
| Ensembl Gene |
ENSMUSG00000020428 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 6 |
| Synonyms |
alpha6, GABA-ARalpha6, Gabra-6 |
| MMRRC Submission |
038926-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
42197264-42211899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42207394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 230
(M230K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020703]
[ENSMUST00000109286]
[ENSMUST00000155218]
|
| AlphaFold |
P16305 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020703
AA Change: M220K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: M220K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
32 |
230 |
2.4e-43 |
PFAM |
|
Pfam:Neur_chan_memb
|
237 |
378 |
9.3e-43 |
PFAM |
|
transmembrane domain
|
413 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109286
AA Change: M229K
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: M229K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
31 |
239 |
2.4e-53 |
PFAM |
|
Pfam:Neur_chan_memb
|
246 |
387 |
9.7e-43 |
PFAM |
|
transmembrane domain
|
422 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155218
AA Change: M230K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: M230K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
32 |
240 |
2e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
393 |
6.3e-35 |
PFAM |
|
transmembrane domain
|
423 |
440 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5815 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal cerebellar cytoarchitecture and normal responses to ethanol, pentobarbital and general anesthetics. Mice homozygous for a reporter allele are behaviorally normal and lack a cochlear phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,675,068 (GRCm39) |
|
probably null |
Het |
| Adam17 |
A |
G |
12: 21,382,222 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,354,494 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
A |
G |
3: 36,982,612 (GRCm39) |
Y759C |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,468,347 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,201,813 (GRCm39) |
T34S |
unknown |
Het |
| Col5a2 |
A |
G |
1: 45,446,387 (GRCm39) |
|
probably null |
Het |
| Cyp4v3 |
A |
G |
8: 45,761,688 (GRCm39) |
|
probably benign |
Het |
| Dlat |
G |
A |
9: 50,565,008 (GRCm39) |
T233M |
probably damaging |
Het |
| Eef2 |
C |
T |
10: 81,017,830 (GRCm39) |
P831S |
probably benign |
Het |
| Endod1 |
A |
T |
9: 14,268,413 (GRCm39) |
N357K |
possibly damaging |
Het |
| Evc |
A |
T |
5: 37,476,403 (GRCm39) |
V205E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,228,469 (GRCm39) |
L1754P |
probably damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,855 (GRCm39) |
V197A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,564,696 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
A |
T |
8: 121,829,688 (GRCm39) |
L116Q |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,973,065 (GRCm39) |
V2312A |
probably benign |
Het |
| Or1i2 |
T |
C |
10: 78,447,956 (GRCm39) |
E173G |
probably benign |
Het |
| Palld |
G |
A |
8: 62,330,737 (GRCm39) |
R47C |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,729,136 (GRCm39) |
T1424A |
probably benign |
Het |
| Ppp6r2 |
G |
A |
15: 89,149,445 (GRCm39) |
|
probably null |
Het |
| Sik3 |
A |
G |
9: 46,109,537 (GRCm39) |
N505S |
probably benign |
Het |
| Spin1 |
A |
G |
13: 51,293,551 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tcp11 |
T |
C |
17: 28,286,134 (GRCm39) |
I494V |
possibly damaging |
Het |
| Tgfa |
G |
A |
6: 86,248,417 (GRCm39) |
E140K |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,382,104 (GRCm39) |
F338L |
probably damaging |
Het |
| Tspan17 |
T |
C |
13: 54,937,487 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tut4 |
C |
G |
4: 108,360,152 (GRCm39) |
|
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,926,710 (GRCm39) |
|
probably benign |
Het |
| Unc5a |
CTGTGTGTGTGTGTGT |
CTGTGTGTGTGTGT |
13: 55,153,068 (GRCm39) |
|
probably null |
Het |
| Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,809,929 (GRCm39) |
L931* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,796,496 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gabra6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Gabra6
|
APN |
11 |
42,207,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01553:Gabra6
|
APN |
11 |
42,206,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01801:Gabra6
|
APN |
11 |
42,205,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02474:Gabra6
|
APN |
11 |
42,198,244 (GRCm39) |
missense |
probably benign |
|
|
IGL03027:Gabra6
|
APN |
11 |
42,205,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03111:Gabra6
|
APN |
11 |
42,207,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Gabra6
|
UTSW |
11 |
42,205,798 (GRCm39) |
missense |
probably benign |
|
|
R0206:Gabra6
|
UTSW |
11 |
42,207,906 (GRCm39) |
nonsense |
probably null |
|
|
R0240:Gabra6
|
UTSW |
11 |
42,205,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0726:Gabra6
|
UTSW |
11 |
42,205,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0751:Gabra6
|
UTSW |
11 |
42,205,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0789:Gabra6
|
UTSW |
11 |
42,205,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1666:Gabra6
|
UTSW |
11 |
42,208,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Gabra6
|
UTSW |
11 |
42,207,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2317:Gabra6
|
UTSW |
11 |
42,208,607 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3605:Gabra6
|
UTSW |
11 |
42,205,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Gabra6
|
UTSW |
11 |
42,198,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Gabra6
|
UTSW |
11 |
42,198,317 (GRCm39) |
missense |
probably benign |
|
|
R5929:Gabra6
|
UTSW |
11 |
42,208,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5930:Gabra6
|
UTSW |
11 |
42,198,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5931:Gabra6
|
UTSW |
11 |
42,198,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6155:Gabra6
|
UTSW |
11 |
42,207,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:Gabra6
|
UTSW |
11 |
42,208,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Gabra6
|
UTSW |
11 |
42,208,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Gabra6
|
UTSW |
11 |
42,207,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Gabra6
|
UTSW |
11 |
42,211,868 (GRCm39) |
splice site |
probably null |
|
|
R7869:Gabra6
|
UTSW |
11 |
42,207,322 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7949:Gabra6
|
UTSW |
11 |
42,207,826 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8199:Gabra6
|
UTSW |
11 |
42,207,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Gabra6
|
UTSW |
11 |
42,210,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Gabra6
|
UTSW |
11 |
42,205,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Gabra6
|
UTSW |
11 |
42,198,289 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAGGCATACCAAAGACAGTTCTTG -3'
(R):5'- AGTCCCAGAAGAATCTTCTAGCCTCC -3'
Sequencing Primer
(F):5'- TACCAAAGACAGTTCTTGCTGGG -3'
(R):5'- CTCCAGTATGATTTGATTGGGCAAAC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation