Incidental Mutation 'R2444:Gabra5'
| ID |
249910 |
| 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 |
040402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R2444 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
57057420-57159807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57058623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 375
(T375I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068456]
[ENSMUST00000206382]
[ENSMUST00000206734]
|
| AlphaFold |
Q8BHJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068456
AA Change: T375I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: T375I
| 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 benign
Transcript: ENSMUST00000206382
AA Change: T375I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206734
AA Change: T375I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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. 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,904,561 (GRCm39) |
D112E |
possibly damaging |
Het |
| Abca15 |
A |
G |
7: 119,965,120 (GRCm39) |
Y794C |
probably damaging |
Het |
| Bicd2 |
T |
C |
13: 49,532,500 (GRCm39) |
V362A |
probably benign |
Het |
| Cep126 |
G |
A |
9: 8,101,307 (GRCm39) |
T409M |
probably damaging |
Het |
| Cep131 |
A |
G |
11: 119,961,321 (GRCm39) |
F610S |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
| Chd1l |
A |
G |
3: 97,497,882 (GRCm39) |
Y320H |
probably damaging |
Het |
| Dnajc30 |
A |
G |
5: 135,093,439 (GRCm39) |
D112G |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,289 (GRCm39) |
D486G |
possibly damaging |
Het |
| Fam184a |
A |
C |
10: 53,517,045 (GRCm39) |
L410R |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,799 (GRCm39) |
N2638S |
probably damaging |
Het |
| Fgf15 |
A |
G |
7: 144,453,429 (GRCm39) |
D134G |
probably benign |
Het |
| Flywch2 |
A |
T |
17: 23,996,024 (GRCm39) |
S124R |
possibly damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,118,071 (GRCm39) |
N44K |
possibly damaging |
Het |
| Hoatz |
A |
G |
9: 51,011,298 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
A |
T |
1: 15,779,791 (GRCm39) |
N221I |
probably benign |
Het |
| Marco |
G |
A |
1: 120,422,499 (GRCm39) |
T61M |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,222,786 (GRCm39) |
I180T |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,997,142 (GRCm39) |
T626M |
probably damaging |
Het |
| Mtnr1a |
C |
T |
8: 45,540,695 (GRCm39) |
Q219* |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,600,776 (GRCm39) |
S1284P |
probably benign |
Het |
| Or1j10 |
T |
C |
2: 36,267,625 (GRCm39) |
V279A |
possibly damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,311 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcdh9 |
T |
A |
14: 94,124,227 (GRCm39) |
T648S |
probably benign |
Het |
| Proz |
A |
T |
8: 13,111,027 (GRCm39) |
|
probably benign |
Het |
| Rec114 |
G |
T |
9: 58,567,602 (GRCm39) |
A128E |
probably damaging |
Het |
| Rspry1 |
G |
T |
8: 95,349,735 (GRCm39) |
G41V |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,929,905 (GRCm39) |
M1388K |
probably benign |
Het |
| Spice1 |
C |
T |
16: 44,186,931 (GRCm39) |
Q143* |
probably null |
Het |
| Tcstv3 |
A |
T |
13: 120,779,365 (GRCm39) |
K88M |
probably damaging |
Het |
| Terb2 |
T |
A |
2: 122,023,788 (GRCm39) |
|
probably null |
Het |
| Tmx3 |
A |
T |
18: 90,558,307 (GRCm39) |
K453M |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,933,200 (GRCm39) |
Y688C |
probably damaging |
Het |
| Tshz2 |
T |
G |
2: 169,726,726 (GRCm39) |
S441A |
probably benign |
Het |
| Usp45 |
A |
T |
4: 21,817,528 (GRCm39) |
M399L |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,213,702 (GRCm39) |
H96L |
possibly damaging |
Het |
| Wls |
G |
A |
3: 159,612,867 (GRCm39) |
R261Q |
probably 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 |
|
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 |
|
R6340:Gabra5
|
UTSW |
7 |
57,063,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGGCTCTCTATTCAAATATGTTGCC -3'
(R):5'- CGGGATTCTAGGCTTGCAAG -3'
Sequencing Primer
(F):5'- TGCCCAGTAAACTAAGTTGAAAGTGC -3'
(R):5'- ATTCTAGGCTTGCAAGAGGCC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation