Incidental Mutation 'R9785:Gabra5'
| ID |
734285 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R9785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
57057420-57159807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57140584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 38
(V38I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068456]
[ENSMUST00000085240]
[ENSMUST00000206382]
[ENSMUST00000206734]
|
| AlphaFold |
Q8BHJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068456
AA Change: V38I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: V38I
| 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 |
probably benign
Transcript: ENSMUST00000085240
|
| SMART Domains |
Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
37 |
243 |
5.1e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
250 |
468 |
1.8e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206382
AA Change: V38I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206734
AA Change: V38I
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
C |
10: 61,049,427 (GRCm39) |
E634G |
possibly damaging |
Het |
| Adgre1 |
T |
C |
17: 57,785,930 (GRCm39) |
L892P |
probably damaging |
Het |
| Adgrl1 |
A |
T |
8: 84,665,168 (GRCm39) |
N1285I |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,473,594 (GRCm39) |
M803K |
probably benign |
Het |
| Armt1 |
T |
A |
10: 4,389,606 (GRCm39) |
W88R |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,824,300 (GRCm39) |
|
probably null |
Het |
| Cd27 |
G |
A |
6: 125,213,945 (GRCm39) |
|
probably benign |
Het |
| Cebpb |
A |
G |
2: 167,531,663 (GRCm39) |
D241G |
probably damaging |
Het |
| Clec3b |
T |
A |
9: 122,985,997 (GRCm39) |
W132R |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,015,028 (GRCm39) |
S1185C |
unknown |
Het |
| Csn2 |
A |
T |
5: 87,842,502 (GRCm39) |
V175D |
possibly damaging |
Het |
| Dnm1 |
A |
T |
2: 32,223,089 (GRCm39) |
C442S |
possibly damaging |
Het |
| Dstyk |
C |
T |
1: 132,381,038 (GRCm39) |
T511I |
probably damaging |
Het |
| Gjd2 |
A |
T |
2: 113,841,747 (GRCm39) |
Y243* |
probably null |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
G |
A |
3: 93,238,861 (GRCm39) |
R3033H |
unknown |
Het |
| Ivd |
G |
T |
2: 118,710,970 (GRCm39) |
R393L |
probably damaging |
Het |
| Jam2 |
T |
C |
16: 84,571,397 (GRCm39) |
L8P |
unknown |
Het |
| Klhdc7b |
G |
T |
15: 89,272,621 (GRCm39) |
D510Y |
probably damaging |
Het |
| Lgals8 |
A |
T |
13: 12,462,051 (GRCm39) |
F260I |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,908,708 (GRCm39) |
I660T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,180,090 (GRCm39) |
A12T |
unknown |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or5d47 |
T |
C |
2: 87,804,245 (GRCm39) |
T255A |
possibly damaging |
Het |
| Rprm |
C |
T |
2: 53,975,238 (GRCm39) |
V27M |
probably benign |
Het |
| Scg3 |
G |
T |
9: 75,589,322 (GRCm39) |
D110E |
probably damaging |
Het |
| Selenon |
C |
T |
4: 134,270,374 (GRCm39) |
G326D |
probably damaging |
Het |
| Sh3gl2 |
T |
A |
4: 85,273,618 (GRCm39) |
Y57N |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,740,884 (GRCm39) |
L807M |
possibly damaging |
Het |
| Srl |
A |
G |
16: 4,314,718 (GRCm39) |
V308A |
probably benign |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,489 (GRCm39) |
T14S |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,041,970 (GRCm39) |
E2150G |
probably benign |
Het |
| Vmn2r104 |
G |
A |
17: 20,268,409 (GRCm39) |
T20I |
probably benign |
Het |
| Wnt1 |
G |
T |
15: 98,688,752 (GRCm39) |
V38L |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,194,271 (GRCm39) |
T740M |
possibly damaging |
Het |
| Zdhhc6 |
T |
C |
19: 55,300,203 (GRCm39) |
M125V |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,120,233 (GRCm39) |
M225V |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 80,673,245 (GRCm39) |
V70F |
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 |
|
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 |
|
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 |
|
|
X0028:Gabra5
|
UTSW |
7 |
57,138,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGTTCAGTTGGAGTATCTTTACG -3'
(R):5'- CCATTTGGCCTAGAGCAGAAG -3'
Sequencing Primer
(F):5'- ACGGTTAAGGGTGATTTCTCC -3'
(R):5'- TCCAGGGCTCATTAAAGGAATC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation