Incidental Mutation 'IGL02676:Gabrb3'
| ID |
303156 |
| 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 # |
IGL02676
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
57240266-57478550 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 57241112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039697]
[ENSMUST00000085240]
[ENSMUST00000138350]
[ENSMUST00000196198]
|
| AlphaFold |
P63080 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039697
|
| SMART Domains |
Protein: ENSMUSP00000038051
Gene: ENSMUSG00000033676
| 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 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: ENSMUST00000138350
|
| SMART Domains |
Protein: ENSMUSP00000118835
Gene: ENSMUSG00000033676
| 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 benign
Transcript: ENSMUST00000196198
|
| SMART Domains |
Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
G |
A |
18: 34,448,687 (GRCm39) |
S1827N |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,680,316 (GRCm39) |
C739S |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,977 (GRCm39) |
E2622G |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,440,530 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,027,563 (GRCm39) |
L330Q |
probably damaging |
Het |
| Clcnka |
A |
T |
4: 141,120,094 (GRCm39) |
V275E |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,135,616 (GRCm39) |
S456N |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,361 (GRCm39) |
I1909N |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,553,626 (GRCm39) |
I176T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,346,668 (GRCm39) |
R7717G |
probably damaging |
Het |
| Eml2 |
C |
T |
7: 18,918,846 (GRCm39) |
R99* |
probably null |
Het |
| Fibin |
T |
C |
2: 110,192,929 (GRCm39) |
Q71R |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,812,501 (GRCm39) |
I2940S |
possibly damaging |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Gm6483 |
C |
T |
8: 19,743,675 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl1 |
G |
A |
13: 26,953,348 (GRCm39) |
R242C |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,494,760 (GRCm39) |
T4110A |
probably benign |
Het |
| Lama2 |
T |
G |
10: 26,994,489 (GRCm39) |
M1807L |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,888,302 (GRCm39) |
V113A |
possibly damaging |
Het |
| Mkx |
T |
C |
18: 7,000,640 (GRCm39) |
T101A |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,718,491 (GRCm39) |
F15L |
probably damaging |
Het |
| Nherf2 |
A |
T |
17: 24,860,930 (GRCm39) |
V204E |
probably damaging |
Het |
| Nif3l1 |
G |
A |
1: 58,494,895 (GRCm39) |
|
probably null |
Het |
| Nop14 |
A |
G |
5: 34,796,565 (GRCm39) |
V764A |
probably damaging |
Het |
| Nosip |
C |
A |
7: 44,726,752 (GRCm39) |
A259E |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,341,300 (GRCm39) |
|
probably benign |
Het |
| Or9g20 |
T |
C |
2: 85,629,934 (GRCm39) |
I227V |
possibly damaging |
Het |
| Phospho1 |
G |
A |
11: 95,721,714 (GRCm39) |
G128D |
probably damaging |
Het |
| Ppp4r3a |
G |
A |
12: 101,008,770 (GRCm39) |
T703M |
probably benign |
Het |
| Pramel21 |
T |
C |
4: 143,342,667 (GRCm39) |
F258S |
possibly damaging |
Het |
| Pramel58 |
A |
G |
5: 94,831,730 (GRCm39) |
T246A |
possibly damaging |
Het |
| Prdm8 |
G |
A |
5: 98,334,418 (GRCm39) |
E662K |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,202 (GRCm39) |
S1775P |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,540,172 (GRCm39) |
|
probably benign |
Het |
| Rasef |
T |
C |
4: 73,677,966 (GRCm39) |
T87A |
possibly damaging |
Het |
| Scrn3 |
A |
G |
2: 73,160,215 (GRCm39) |
Q286R |
probably benign |
Het |
| Sema3d |
A |
T |
5: 12,620,945 (GRCm39) |
Q517L |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,752,413 (GRCm39) |
Y425C |
probably damaging |
Het |
| Tbk1 |
T |
C |
10: 121,403,985 (GRCm39) |
N254S |
possibly damaging |
Het |
| Tcf3 |
C |
T |
10: 80,256,925 (GRCm39) |
G64R |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,750,380 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
G |
8: 47,946,448 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,025 (GRCm39) |
I193F |
possibly damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,367,882 (GRCm39) |
T370I |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,381 (GRCm39) |
H845L |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,285,521 (GRCm39) |
T114S |
probably benign |
Het |
| Zfp280d |
A |
T |
9: 72,242,356 (GRCm39) |
R661S |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,568,410 (GRCm39) |
I356T |
probably benign |
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 |
|
IGL02092:Gabrb3
|
APN |
7 |
57,415,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02193:Gabrb3
|
APN |
7 |
57,442,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation