Incidental Mutation 'R2966:Gabra5'
ID |
264661 |
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 |
040522-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R2966 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
57057420-57159807 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57058389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 453
(E453G)
|
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: E453G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063276 Gene: ENSMUSG00000055078 AA Change: E453G
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: E453G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206734
AA Change: E453G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
Adamts1 |
A |
G |
16: 85,593,662 (GRCm39) |
V691A |
possibly damaging |
Het |
Add1 |
C |
A |
5: 34,788,058 (GRCm39) |
D702E |
probably benign |
Het |
Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
Atp11a |
A |
T |
8: 12,897,853 (GRCm39) |
|
probably null |
Het |
Atp8a1 |
T |
C |
5: 67,805,049 (GRCm39) |
D1022G |
probably benign |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Bnc2 |
G |
A |
4: 84,211,754 (GRCm39) |
A300V |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,836,798 (GRCm39) |
K2256E |
probably benign |
Het |
Cfap300 |
C |
T |
9: 8,027,175 (GRCm39) |
R121Q |
probably damaging |
Het |
Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
Col2a1 |
A |
G |
15: 97,873,976 (GRCm39) |
I1402T |
unknown |
Het |
Ddx43 |
C |
A |
9: 78,313,661 (GRCm39) |
Y197* |
probably null |
Het |
Dyrk2 |
T |
A |
10: 118,696,242 (GRCm39) |
K339* |
probably null |
Het |
Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
Fgd6 |
T |
A |
10: 93,880,056 (GRCm39) |
F303L |
probably benign |
Het |
Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
Gatd1 |
T |
A |
7: 140,989,080 (GRCm39) |
D193V |
probably damaging |
Het |
Gm6871 |
T |
G |
7: 41,222,864 (GRCm39) |
T75P |
probably benign |
Het |
Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
Has2 |
A |
G |
15: 56,545,533 (GRCm39) |
L23P |
probably damaging |
Het |
Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
Mgam |
T |
C |
6: 40,745,154 (GRCm39) |
V1807A |
possibly damaging |
Het |
Myh1 |
A |
G |
11: 67,105,410 (GRCm39) |
K1067E |
probably damaging |
Het |
Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
Noa1 |
T |
C |
5: 77,454,191 (GRCm39) |
E483G |
possibly damaging |
Het |
Nsd2 |
G |
C |
5: 34,003,466 (GRCm39) |
E205D |
probably benign |
Het |
Pclo |
T |
C |
5: 14,731,164 (GRCm39) |
L3222P |
unknown |
Het |
Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
Prss35 |
A |
G |
9: 86,637,635 (GRCm39) |
D135G |
probably damaging |
Het |
Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
Rab21 |
T |
C |
10: 115,130,814 (GRCm39) |
N164S |
probably benign |
Het |
Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
Rbm15b |
A |
G |
9: 106,762,791 (GRCm39) |
L459P |
probably damaging |
Het |
Recql |
A |
G |
6: 142,309,313 (GRCm39) |
V586A |
probably benign |
Het |
Rprd2 |
A |
T |
3: 95,673,745 (GRCm39) |
|
probably null |
Het |
Sis |
T |
A |
3: 72,796,343 (GRCm39) |
I1813L |
probably benign |
Het |
Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
Sympk |
T |
C |
7: 18,764,469 (GRCm39) |
V58A |
probably damaging |
Het |
Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
Usp48 |
G |
A |
4: 137,341,073 (GRCm39) |
V358M |
probably damaging |
Het |
Vmn1r39 |
A |
C |
6: 66,781,715 (GRCm39) |
I201S |
possibly damaging |
Het |
Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
probably benign |
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 |
|
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'- TTCTAGAAGGCCATTTGCTTGG -3'
(R):5'- ACTGGAAAGCTGACCCATCC -3'
Sequencing Primer
(F):5'- GGGTACATCCTTGAAACATTTGAAG -3'
(R):5'- TCCCAAAAGAGCAGCCTCCAG -3'
|
Posted On |
2015-02-05 |