Incidental Mutation 'IGL01878:Gabrb3'
| ID |
178954 |
| 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 # |
IGL01878
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
57240266-57478550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57466163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 326
(F326L)
|
| 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
AA Change: F326L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000038051
Gene: ENSMUSG00000033676
AA Change: F326L
| 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
AA Change: F348L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676
AA Change: F348L
| 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 |
noncoding transcript
Transcript: ENSMUST00000136033
|
| 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 |
probably damaging
Transcript: ENSMUST00000196198
AA Change: F326L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
AA Change: F326L
| 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 |
|---|
| Alox8 |
G |
T |
11: 69,087,864 (GRCm39) |
Q147K |
probably benign |
Het |
| Ankib1 |
T |
A |
5: 3,784,152 (GRCm39) |
M275L |
possibly damaging |
Het |
| Asb2 |
G |
A |
12: 103,287,922 (GRCm39) |
P546S |
possibly damaging |
Het |
| B9d1 |
T |
C |
11: 61,398,449 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,557,257 (GRCm39) |
D1957G |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,299,970 (GRCm39) |
V44A |
possibly damaging |
Het |
| Fbxw19 |
A |
C |
9: 109,312,347 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm11168 |
T |
C |
9: 3,005,204 (GRCm39) |
C16R |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm7808 |
T |
A |
9: 19,839,542 (GRCm39) |
|
probably benign |
Het |
| Gpam |
T |
C |
19: 55,071,806 (GRCm39) |
I312V |
probably benign |
Het |
| H2-M10.5 |
A |
G |
17: 37,084,708 (GRCm39) |
Y144C |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,952,424 (GRCm39) |
S247P |
possibly damaging |
Het |
| Hs3st4 |
T |
G |
7: 123,996,536 (GRCm39) |
C401G |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,212,858 (GRCm39) |
V227A |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
| Lipm |
T |
A |
19: 34,093,911 (GRCm39) |
L276Q |
possibly damaging |
Het |
| Lmf2 |
T |
A |
15: 89,236,621 (GRCm39) |
H515L |
probably damaging |
Het |
| Mccc1 |
G |
A |
3: 36,030,041 (GRCm39) |
S423L |
probably damaging |
Het |
| Mettl21e |
G |
A |
1: 44,250,193 (GRCm39) |
S71L |
probably null |
Het |
| Muc16 |
T |
A |
9: 18,406,839 (GRCm39) |
H251L |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,059,852 (GRCm39) |
|
probably benign |
Het |
| Ntf5 |
T |
C |
7: 45,065,450 (GRCm39) |
I194T |
probably damaging |
Het |
| Or10ag58 |
T |
C |
2: 87,265,314 (GRCm39) |
I161T |
possibly damaging |
Het |
| Or1o4 |
A |
G |
17: 37,590,891 (GRCm39) |
V140A |
possibly damaging |
Het |
| Or2w6 |
T |
C |
13: 21,842,953 (GRCm39) |
D180G |
possibly damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,478 (GRCm39) |
S72P |
probably damaging |
Het |
| Or9m1 |
A |
T |
2: 87,733,675 (GRCm39) |
L115* |
probably null |
Het |
| Pigv |
T |
C |
4: 133,392,428 (GRCm39) |
I247M |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,383,356 (GRCm39) |
N392D |
probably benign |
Het |
| Postn |
A |
G |
3: 54,290,901 (GRCm39) |
|
probably null |
Het |
| Prl2c5 |
G |
A |
13: 13,360,402 (GRCm39) |
S23N |
probably benign |
Het |
| Prpf40b |
T |
C |
15: 99,204,413 (GRCm39) |
C220R |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,472,261 (GRCm39) |
S843P |
probably damaging |
Het |
| Rpl23 |
C |
A |
11: 97,669,177 (GRCm39) |
R85L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,799,721 (GRCm39) |
S252P |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,519,388 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,063,571 (GRCm39) |
E2285G |
probably damaging |
Het |
| Telo2 |
G |
T |
17: 25,320,332 (GRCm39) |
T784K |
probably benign |
Het |
| Tnfrsf19 |
C |
T |
14: 61,234,093 (GRCm39) |
V136M |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,628,234 (GRCm39) |
I22F |
probably damaging |
Het |
| Trpv6 |
G |
T |
6: 41,603,801 (GRCm39) |
|
probably benign |
Het |
| Vmn1r173 |
T |
G |
7: 23,401,877 (GRCm39) |
H37Q |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo6 |
T |
A |
7: 125,773,365 (GRCm39) |
H20L |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation