Incidental Mutation 'R5247:Gabrb3'
| ID |
401193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrb3
|
| Ensembl Gene |
ENSMUSG00000033676 |
| Gene Name |
GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 |
| Synonyms |
A230092K12Rik, Gabrb-3, beta3 |
| MMRRC Submission |
042818-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.363)
|
| Stock # |
R5247 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
57240266-57478550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57240339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 8
(L8Q)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000196198
AA Change: L8Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
AA Change: L8Q
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
T |
1: 72,719,343 (GRCm39) |
V502E |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,874 (GRCm39) |
L585* |
probably null |
Het |
| Atp6v0a2 |
T |
C |
5: 124,790,241 (GRCm39) |
S475P |
probably damaging |
Het |
| Cacng1 |
T |
C |
11: 107,607,105 (GRCm39) |
H38R |
probably benign |
Het |
| Ccdc168 |
A |
C |
1: 44,096,166 (GRCm39) |
L1644* |
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,304,946 (GRCm39) |
V2168A |
probably benign |
Het |
| Cnot4 |
C |
T |
6: 35,028,351 (GRCm39) |
V422I |
probably damaging |
Het |
| Col1a1 |
T |
C |
11: 94,838,013 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
A |
T |
13: 113,455,993 (GRCm39) |
I680F |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,955,402 (GRCm39) |
C287S |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,401 (GRCm39) |
D133E |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,524 (GRCm39) |
L52P |
probably damaging |
Het |
| Fam98c |
T |
C |
7: 28,855,126 (GRCm39) |
E99G |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,648,794 (GRCm39) |
I1574L |
probably benign |
Het |
| Hck |
A |
T |
2: 152,976,615 (GRCm39) |
K250* |
probably null |
Het |
| Herc1 |
A |
G |
9: 66,341,833 (GRCm39) |
E1874G |
probably benign |
Het |
| Igf2 |
G |
T |
7: 142,207,668 (GRCm39) |
A143D |
possibly damaging |
Het |
| Isg20l2 |
A |
G |
3: 87,838,920 (GRCm39) |
N44D |
possibly damaging |
Het |
| Kdm7a |
T |
A |
6: 39,121,390 (GRCm39) |
Q855L |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,815,507 (GRCm39) |
S434P |
possibly damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,425 (GRCm39) |
N119K |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,203,706 (GRCm39) |
M375V |
unknown |
Het |
| Lpcat4 |
A |
G |
2: 112,072,860 (GRCm39) |
H173R |
possibly damaging |
Het |
| Mapk13 |
A |
T |
17: 28,996,725 (GRCm39) |
Q264L |
probably benign |
Het |
| Mrps18c |
C |
G |
5: 100,946,659 (GRCm39) |
C8W |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nlrp4b |
T |
A |
7: 10,448,145 (GRCm39) |
I116N |
probably benign |
Het |
| Or10h1 |
A |
G |
17: 33,418,504 (GRCm39) |
T161A |
probably benign |
Het |
| Or5b124 |
T |
A |
19: 13,610,778 (GRCm39) |
F101Y |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,316,098 (GRCm39) |
H679Q |
probably damaging |
Het |
| Prickle2 |
T |
A |
6: 92,352,950 (GRCm39) |
S839C |
probably damaging |
Het |
| Rps19 |
T |
A |
7: 24,584,878 (GRCm39) |
S36T |
probably damaging |
Het |
| Serpinb1a |
T |
A |
13: 33,034,389 (GRCm39) |
M1L |
probably damaging |
Het |
| Slc16a7 |
A |
T |
10: 125,067,183 (GRCm39) |
M152K |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Stx18 |
A |
T |
5: 38,263,977 (GRCm39) |
Y141F |
probably damaging |
Het |
| Tgfb2 |
A |
T |
1: 186,382,111 (GRCm39) |
|
probably null |
Het |
| Tle7 |
T |
C |
8: 110,837,209 (GRCm39) |
F299S |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,571 (GRCm39) |
Y290N |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,558,766 (GRCm39) |
T29705M |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
G |
9: 108,373,264 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATAGATAATCTTGCCGCCATGC -3'
(R):5'- CAGGGACATAGGAAGTGCTC -3'
Sequencing Primer
(F):5'- GCCATGCAAAGGGCTGG -3'
(R):5'- GGAAGTGCTCCACATCCCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation