Incidental Mutation 'IGL02092:Gabrb3'
ID |
279467 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gabrb3
|
Ensembl Gene |
ENSMUSG00000033676 |
Gene Name |
GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 |
Synonyms |
A230092K12Rik, Gabrb-3, beta3 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.363)
|
Stock # |
IGL02092
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
57240266-57478550 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57415334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 135
(T135A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039697]
[ENSMUST00000085240]
[ENSMUST00000138350]
[ENSMUST00000196198]
|
AlphaFold |
P63080 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039697
AA Change: T135A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038051 Gene: ENSMUSG00000033676 AA Change: T135A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
37 |
243 |
1.3e-53 |
PFAM |
Pfam:Neur_chan_memb
|
250 |
468 |
2.4e-55 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085240
AA Change: T157A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082337 Gene: ENSMUSG00000033676 AA Change: T157A
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 damaging
Transcript: ENSMUST00000138350
AA Change: T92A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118835 Gene: ENSMUSG00000033676 AA Change: T92A
Domain | Start | End | E-Value | Type |
Pfam:Neur_chan_LBD
|
1 |
123 |
2.5e-30 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156375
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196198
AA Change: T135A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143353 Gene: ENSMUSG00000033676 AA Change: T135A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
37 |
243 |
9.7e-54 |
PFAM |
Pfam:Neur_chan_memb
|
250 |
468 |
2e-55 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013] PHENOTYPE: Homozygous null mutants die at birth with cleft palate. Survivors show delayed growth, reduced lifespan, seizures, ataxia, hyperactivity, hyperresponsiveness and reduced learning, mothering ability and REM sleep. A point mutation lowers anesthetic effect. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010H22Rik |
T |
A |
5: 98,714,627 (GRCm39) |
|
probably benign |
Het |
Birc7 |
A |
T |
2: 180,574,979 (GRCm39) |
R238S |
probably benign |
Het |
Cdc42bpg |
C |
A |
19: 6,366,856 (GRCm39) |
|
probably benign |
Het |
Ces3a |
T |
C |
8: 105,776,962 (GRCm39) |
|
probably benign |
Het |
Cntnap2 |
T |
C |
6: 46,211,137 (GRCm39) |
F517S |
probably damaging |
Het |
Cracr2b |
A |
G |
7: 141,044,869 (GRCm39) |
E201G |
probably damaging |
Het |
Cyth3 |
T |
C |
5: 143,693,140 (GRCm39) |
|
probably benign |
Het |
Exoc2 |
A |
T |
13: 31,059,260 (GRCm39) |
N611K |
probably benign |
Het |
Fign |
A |
T |
2: 63,810,927 (GRCm39) |
N114K |
possibly damaging |
Het |
Htra3 |
T |
C |
5: 35,828,416 (GRCm39) |
K155E |
probably damaging |
Het |
Inpp5f |
T |
C |
7: 128,286,948 (GRCm39) |
L609S |
probably damaging |
Het |
Kcp |
C |
A |
6: 29,489,031 (GRCm39) |
|
probably null |
Het |
Map4k4 |
A |
G |
1: 40,025,943 (GRCm39) |
K311R |
probably benign |
Het |
Map4k4 |
A |
G |
1: 40,063,508 (GRCm39) |
K1228E |
probably damaging |
Het |
Muc20 |
G |
A |
16: 32,614,642 (GRCm39) |
S245F |
probably damaging |
Het |
Or10ak8 |
A |
G |
4: 118,774,187 (GRCm39) |
L159S |
possibly damaging |
Het |
Or7g33 |
T |
A |
9: 19,449,046 (GRCm39) |
Y60F |
probably damaging |
Het |
Or8b36 |
T |
G |
9: 37,937,917 (GRCm39) |
S272A |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,136,360 (GRCm39) |
M892T |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,784,637 (GRCm39) |
T234A |
probably damaging |
Het |
Sema4g |
G |
A |
19: 44,981,078 (GRCm39) |
|
probably null |
Het |
Slc35a3 |
A |
G |
3: 116,474,781 (GRCm39) |
S204P |
probably damaging |
Het |
Speer4f2 |
C |
T |
5: 17,581,627 (GRCm39) |
Q190* |
probably null |
Het |
Szt2 |
A |
G |
4: 118,220,529 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
T |
C |
6: 82,380,900 (GRCm39) |
Y104H |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,120 (GRCm39) |
E173G |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,749,695 (GRCm39) |
I8T |
possibly damaging |
Het |
Trpv1 |
T |
A |
11: 73,136,905 (GRCm39) |
|
probably benign |
Het |
Ufsp2 |
T |
C |
8: 46,448,701 (GRCm39) |
|
probably null |
Het |
Wwc2 |
T |
C |
8: 48,317,570 (GRCm39) |
D669G |
unknown |
Het |
Zfp940 |
T |
C |
7: 29,545,626 (GRCm39) |
T94A |
probably benign |
Het |
Zfp947 |
T |
G |
17: 22,366,477 (GRCm39) |
D17A |
probably damaging |
Het |
|
Other mutations in Gabrb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01370:Gabrb3
|
APN |
7 |
57,466,226 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01878:Gabrb3
|
APN |
7 |
57,466,163 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02193:Gabrb3
|
APN |
7 |
57,442,264 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02676:Gabrb3
|
APN |
7 |
57,241,112 (GRCm39) |
intron |
probably benign |
|
R0325:Gabrb3
|
UTSW |
7 |
57,415,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R1560:Gabrb3
|
UTSW |
7 |
57,466,043 (GRCm39) |
missense |
probably damaging |
0.98 |
R1562:Gabrb3
|
UTSW |
7 |
57,415,262 (GRCm39) |
nonsense |
probably null |
|
R1714:Gabrb3
|
UTSW |
7 |
57,415,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Gabrb3
|
UTSW |
7 |
57,474,241 (GRCm39) |
missense |
probably benign |
0.04 |
R4134:Gabrb3
|
UTSW |
7 |
57,241,036 (GRCm39) |
missense |
probably benign |
0.01 |
R4135:Gabrb3
|
UTSW |
7 |
57,241,036 (GRCm39) |
missense |
probably benign |
0.01 |
R4176:Gabrb3
|
UTSW |
7 |
57,241,061 (GRCm39) |
missense |
probably benign |
0.00 |
R4761:Gabrb3
|
UTSW |
7 |
57,415,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:Gabrb3
|
UTSW |
7 |
57,442,207 (GRCm39) |
intron |
probably benign |
|
R5247:Gabrb3
|
UTSW |
7 |
57,240,339 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6935:Gabrb3
|
UTSW |
7 |
57,241,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R7479:Gabrb3
|
UTSW |
7 |
57,474,171 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7562:Gabrb3
|
UTSW |
7 |
57,461,926 (GRCm39) |
nonsense |
probably null |
|
R7692:Gabrb3
|
UTSW |
7 |
57,466,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R8530:Gabrb3
|
UTSW |
7 |
57,461,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R8819:Gabrb3
|
UTSW |
7 |
57,442,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R8820:Gabrb3
|
UTSW |
7 |
57,442,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R9223:Gabrb3
|
UTSW |
7 |
57,466,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R9651:Gabrb3
|
UTSW |
7 |
57,415,202 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Gabrb3
|
UTSW |
7 |
57,461,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |