Incidental Mutation 'R6340:Gabra5'
| ID |
513883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabra5
|
| Ensembl Gene |
ENSMUSG00000055078 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 5 |
| Synonyms |
A230018I05Rik |
| MMRRC Submission |
044494-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R6340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
57057420-57159807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57063496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 309
(N309K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068456]
[ENSMUST00000206382]
[ENSMUST00000206734]
|
| AlphaFold |
Q8BHJ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068456
AA Change: N309K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: N309K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
49 |
257 |
3e-50 |
PFAM |
|
Pfam:Neur_chan_memb
|
264 |
375 |
2.3e-33 |
PFAM |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
transmembrane domain
|
432 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000085241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186595
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206382
AA Change: N309K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206734
AA Change: N309K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (41/42) |
| 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. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice having disruptions in this gene display abnormalities in hearing and in ear structure. Subtle abnormalities in learning and in conditioning have also been reported. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
C |
T |
1: 34,771,304 (GRCm39) |
L1204F |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,822,115 (GRCm39) |
D495G |
probably benign |
Het |
| B020011L13Rik |
G |
A |
1: 117,729,614 (GRCm39) |
V374I |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,449 (GRCm39) |
V214D |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,796,773 (GRCm39) |
V573A |
probably damaging |
Het |
| Elmo3 |
T |
A |
8: 106,033,379 (GRCm39) |
I115N |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,092,874 (GRCm39) |
Y564N |
probably damaging |
Het |
| Fam180a |
A |
C |
6: 35,292,322 (GRCm39) |
L28R |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Fnip2 |
A |
G |
3: 79,415,152 (GRCm39) |
F243L |
probably damaging |
Het |
| Gm17654 |
A |
G |
14: 43,815,534 (GRCm39) |
L91P |
unknown |
Het |
| Gm19684 |
G |
A |
17: 36,438,402 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
A |
T |
14: 118,504,669 (GRCm39) |
M34L |
unknown |
Het |
| Hmgcr |
A |
G |
13: 96,802,366 (GRCm39) |
F106S |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,081,574 (GRCm39) |
|
probably null |
Het |
| Igf2bp3 |
A |
G |
6: 49,191,393 (GRCm39) |
Y5H |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,336 (GRCm39) |
T77A |
probably benign |
Het |
| Il20 |
A |
G |
1: 130,836,118 (GRCm39) |
Y142H |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,342,042 (GRCm39) |
D2160E |
probably benign |
Het |
| Melk |
A |
G |
4: 44,340,633 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,789,949 (GRCm39) |
V454M |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,790,124 (GRCm39) |
N395K |
probably benign |
Het |
| Mnt |
A |
G |
11: 74,727,242 (GRCm39) |
K43E |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,335,616 (GRCm39) |
I853T |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,370,032 (GRCm39) |
T37A |
probably benign |
Het |
| Or8d1b |
T |
G |
9: 38,887,062 (GRCm39) |
L30R |
probably damaging |
Het |
| Pdia4 |
A |
G |
6: 47,777,952 (GRCm39) |
S347P |
probably benign |
Het |
| Pkd1l1 |
T |
G |
11: 8,794,649 (GRCm39) |
Q1837H |
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,623,877 (GRCm39) |
N99S |
possibly damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,711 (GRCm39) |
N299K |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,725 (GRCm39) |
V52E |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,994,517 (GRCm39) |
I305N |
probably damaging |
Het |
| Trav14-1 |
T |
C |
14: 53,791,955 (GRCm39) |
S102P |
probably damaging |
Het |
| Tsga10 |
C |
A |
1: 37,874,266 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,347,711 (GRCm39) |
H837Q |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,231,727 (GRCm39) |
R575S |
probably benign |
Het |
| Yae1d1 |
C |
A |
13: 18,167,861 (GRCm39) |
A11S |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,368,548 (GRCm39) |
I459T |
possibly damaging |
Het |
|
| Other mutations in Gabra5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Gabra5
|
APN |
7 |
57,138,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01475:Gabra5
|
APN |
7 |
57,058,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02750:Gabra5
|
APN |
7 |
57,157,739 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4581001:Gabra5
|
UTSW |
7 |
57,138,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Gabra5
|
UTSW |
7 |
57,063,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Gabra5
|
UTSW |
7 |
57,058,641 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1740:Gabra5
|
UTSW |
7 |
57,071,590 (GRCm39) |
missense |
probably benign |
|
|
R1766:Gabra5
|
UTSW |
7 |
57,157,796 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1865:Gabra5
|
UTSW |
7 |
57,138,940 (GRCm39) |
nonsense |
probably null |
|
|
R2024:Gabra5
|
UTSW |
7 |
57,138,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Gabra5
|
UTSW |
7 |
57,138,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Gabra5
|
UTSW |
7 |
57,058,623 (GRCm39) |
missense |
probably benign |
|
|
R2829:Gabra5
|
UTSW |
7 |
57,140,583 (GRCm39) |
missense |
probably benign |
|
|
R2966:Gabra5
|
UTSW |
7 |
57,058,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4014:Gabra5
|
UTSW |
7 |
57,138,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Gabra5
|
UTSW |
7 |
57,063,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Gabra5
|
UTSW |
7 |
57,058,547 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5217:Gabra5
|
UTSW |
7 |
57,140,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5360:Gabra5
|
UTSW |
7 |
57,140,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6021:Gabra5
|
UTSW |
7 |
57,157,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6351:Gabra5
|
UTSW |
7 |
57,063,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Gabra5
|
UTSW |
7 |
57,068,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Gabra5
|
UTSW |
7 |
57,140,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Gabra5
|
UTSW |
7 |
57,058,440 (GRCm39) |
missense |
|
|
|
R9487:Gabra5
|
UTSW |
7 |
57,157,873 (GRCm39) |
start gained |
probably benign |
|
|
R9785:Gabra5
|
UTSW |
7 |
57,140,584 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0028:Gabra5
|
UTSW |
7 |
57,138,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGACCCAGAATTAGGCCC -3'
(R):5'- TGATAATCACGGGGATATTTGAGG -3'
Sequencing Primer
(F):5'- GGACCCAGAATTAGGCCCATTTTC -3'
(R):5'- TCACGGGGATATTTGAGGAGAAAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation