Incidental Mutation 'R8199:Gabra6'
| ID |
635598 |
| 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 |
067622-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8199 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
42197264-42211899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42207280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 268
(S268L)
|
| 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: S258L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: S258L
| 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 |
probably damaging
Transcript: ENSMUST00000109286
AA Change: S267L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: S267L
| 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: S268L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: S268L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,275,304 (GRCm39) |
Y336H |
probably damaging |
Het |
| 4930563I02Rik |
A |
G |
14: 60,333,388 (GRCm39) |
I42M |
noncoding transcript |
Het |
| Acad9 |
T |
C |
3: 36,139,572 (GRCm39) |
S391P |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,651,545 (GRCm39) |
T972A |
probably benign |
Het |
| Col25a1 |
G |
A |
3: 130,345,628 (GRCm39) |
G406E |
probably damaging |
Het |
| Coro2b |
T |
G |
9: 62,336,302 (GRCm39) |
I267L |
probably benign |
Het |
| Cst12 |
A |
G |
2: 148,631,459 (GRCm39) |
N60S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,090,393 (GRCm39) |
I4632F |
probably benign |
Het |
| Eif3d |
C |
T |
15: 77,844,292 (GRCm39) |
C404Y |
possibly damaging |
Het |
| Elapor2 |
C |
T |
5: 9,470,657 (GRCm39) |
T260M |
probably damaging |
Het |
| Fam43a |
A |
T |
16: 30,419,586 (GRCm39) |
K57* |
probably null |
Het |
| Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,700,381 (GRCm39) |
E351K |
probably benign |
Het |
| Gatm |
A |
G |
2: 122,432,994 (GRCm39) |
Y223H |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,900,576 (GRCm39) |
M1321K |
probably benign |
Het |
| Hira |
G |
A |
16: 18,766,194 (GRCm39) |
A669T |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Kdm2a |
T |
A |
19: 4,439,054 (GRCm39) |
Q25L |
unknown |
Het |
| Loxhd1 |
C |
A |
18: 77,469,334 (GRCm39) |
N1000K |
possibly damaging |
Het |
| Mpdu1 |
C |
T |
11: 69,548,069 (GRCm39) |
W235* |
probably null |
Het |
| Msantd2 |
G |
C |
9: 37,400,789 (GRCm39) |
G57A |
probably benign |
Het |
| Nat1 |
A |
G |
8: 67,943,650 (GRCm39) |
R9G |
probably damaging |
Het |
| Nbl1 |
G |
A |
4: 138,810,880 (GRCm39) |
P105S |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,615,444 (GRCm39) |
R303G |
probably benign |
Het |
| Or52e4 |
A |
C |
7: 104,705,852 (GRCm39) |
Q133P |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,918 (GRCm39) |
S583G |
probably damaging |
Het |
| Prpf4 |
A |
G |
4: 62,340,866 (GRCm39) |
D427G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,644,841 (GRCm39) |
I1167F |
possibly damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,124,293 (GRCm39) |
H303L |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,813 (GRCm39) |
K1499* |
probably null |
Het |
| Skida1 |
C |
A |
2: 18,052,959 (GRCm39) |
L64F |
probably damaging |
Het |
| St3gal5 |
T |
C |
6: 72,119,175 (GRCm39) |
Y123H |
probably benign |
Het |
| Syk |
T |
C |
13: 52,778,768 (GRCm39) |
S285P |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,268 (GRCm39) |
T29A |
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,099 (GRCm39) |
D47G |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,691,918 (GRCm39) |
F146L |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,634,337 (GRCm39) |
D786E |
probably benign |
Het |
| Uts2 |
G |
A |
4: 151,086,115 (GRCm39) |
C117Y |
possibly damaging |
Het |
| Zfp553 |
T |
C |
7: 126,835,468 (GRCm39) |
L341P |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,419,204 (GRCm39) |
K582* |
probably null |
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 |
|
R0745:Gabra6
|
UTSW |
11 |
42,207,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- AGCACTGCTAACTAAGACACTTATG -3'
(R):5'- CTAACTGGTATGTGTCTTTACATCC -3'
Sequencing Primer
(F):5'- TTCACCATACAACTTGCAAAAAGATG -3'
(R):5'- CTGGTATGTGTCTTTACATCCAATTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation