Incidental Mutation 'IGL01370:Gabrb3'
ID |
76106 |
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 # |
IGL01370
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
57240266-57478550 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 57466226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 347
(A347T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039697]
[ENSMUST00000085240]
[ENSMUST00000138350]
[ENSMUST00000196198]
|
AlphaFold |
P63080 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039697
AA Change: A347T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000038051 Gene: ENSMUSG00000033676 AA Change: A347T
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: A369T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000082337 Gene: ENSMUSG00000033676 AA Change: A369T
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 benign
Transcript: ENSMUST00000196198
AA Change: A347T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000143353 Gene: ENSMUSG00000033676 AA Change: A347T
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
A |
T |
12: 88,423,503 (GRCm39) |
|
probably benign |
Het |
Add1 |
C |
T |
5: 34,787,859 (GRCm39) |
T210I |
probably damaging |
Het |
Ajm1 |
T |
C |
2: 25,468,969 (GRCm39) |
E314G |
possibly damaging |
Het |
Alpk2 |
A |
T |
18: 65,483,662 (GRCm39) |
D115E |
possibly damaging |
Het |
Ankrd36 |
C |
T |
11: 5,534,019 (GRCm39) |
T290I |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,001,904 (GRCm39) |
I1283N |
probably benign |
Het |
Castor2 |
T |
C |
5: 134,167,111 (GRCm39) |
V323A |
probably benign |
Het |
Ccnt2 |
T |
C |
1: 127,731,250 (GRCm39) |
F709S |
possibly damaging |
Het |
Erc1 |
T |
C |
6: 119,801,426 (GRCm39) |
E197G |
probably damaging |
Het |
Ftsj3 |
G |
T |
11: 106,143,145 (GRCm39) |
R390S |
possibly damaging |
Het |
Gde1 |
A |
G |
7: 118,288,383 (GRCm39) |
|
probably benign |
Het |
Jhy |
A |
T |
9: 40,828,438 (GRCm39) |
N489K |
probably benign |
Het |
Kiss1r |
A |
G |
10: 79,754,658 (GRCm39) |
T51A |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,839,193 (GRCm39) |
S772G |
possibly damaging |
Het |
Lamb2 |
G |
T |
9: 108,364,932 (GRCm39) |
|
probably null |
Het |
Loxl3 |
A |
G |
6: 83,026,468 (GRCm39) |
T475A |
probably damaging |
Het |
Lpl |
A |
T |
8: 69,340,220 (GRCm39) |
S72C |
possibly damaging |
Het |
Lrrc74a |
A |
T |
12: 86,801,204 (GRCm39) |
I352F |
probably damaging |
Het |
Mcoln2 |
T |
C |
3: 145,887,585 (GRCm39) |
I334T |
possibly damaging |
Het |
Mettl8 |
T |
G |
2: 70,812,383 (GRCm39) |
D49A |
probably damaging |
Het |
Ms4a3 |
T |
A |
19: 11,610,245 (GRCm39) |
T106S |
probably benign |
Het |
Obscn |
T |
A |
11: 58,886,389 (GRCm39) |
|
probably null |
Het |
Or14j2 |
T |
C |
17: 37,885,412 (GRCm39) |
I301V |
probably null |
Het |
Or1o11 |
C |
A |
17: 37,756,605 (GRCm39) |
H64Q |
probably benign |
Het |
Or1p1c |
G |
A |
11: 74,160,325 (GRCm39) |
V37I |
probably benign |
Het |
Or4n4 |
G |
T |
14: 50,519,689 (GRCm39) |
T7K |
probably damaging |
Het |
Or5b107 |
A |
T |
19: 13,142,663 (GRCm39) |
Y95F |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,528,222 (GRCm39) |
K1333E |
probably damaging |
Het |
Pias3 |
T |
C |
3: 96,610,891 (GRCm39) |
F364L |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,155,531 (GRCm39) |
I2438F |
probably damaging |
Het |
Plcb3 |
A |
C |
19: 6,940,192 (GRCm39) |
V465G |
probably damaging |
Het |
Plekho2 |
G |
T |
9: 65,465,912 (GRCm39) |
H159N |
probably damaging |
Het |
Polr2e |
A |
G |
10: 79,872,681 (GRCm39) |
|
probably benign |
Het |
Rab6b |
G |
T |
9: 103,041,094 (GRCm39) |
V163L |
probably benign |
Het |
Rabep1 |
A |
G |
11: 70,816,607 (GRCm39) |
M597V |
probably benign |
Het |
Rbm15 |
A |
G |
3: 107,238,326 (GRCm39) |
S691P |
probably damaging |
Het |
Sec24b |
G |
A |
3: 129,801,253 (GRCm39) |
|
probably benign |
Het |
Slc6a18 |
A |
G |
13: 73,815,150 (GRCm39) |
I386T |
probably damaging |
Het |
Stxbp3 |
A |
C |
3: 108,704,741 (GRCm39) |
Y497* |
probably null |
Het |
Styk1 |
T |
C |
6: 131,278,615 (GRCm39) |
K353R |
probably damaging |
Het |
Tbc1d10b |
A |
T |
7: 126,798,253 (GRCm39) |
H629Q |
probably damaging |
Het |
Tbc1d5 |
T |
A |
17: 51,273,755 (GRCm39) |
I119F |
probably benign |
Het |
Tcp11l1 |
G |
T |
2: 104,536,831 (GRCm39) |
D11E |
probably benign |
Het |
Tfap2d |
A |
G |
1: 19,175,009 (GRCm39) |
Y154C |
probably damaging |
Het |
Tgm5 |
T |
C |
2: 120,884,018 (GRCm39) |
N325S |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,910,327 (GRCm39) |
K91E |
possibly damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,038,715 (GRCm39) |
F763L |
probably benign |
Het |
Washc4 |
A |
G |
10: 83,394,694 (GRCm39) |
E308G |
probably damaging |
Het |
Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
probably benign |
Het |
|
Other mutations in Gabrb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-10-07 |