Incidental Mutation 'R6935:Gabrb3'
ID |
540246 |
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 |
045008-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.363)
|
Stock # |
R6935 (G1)
|
Quality Score |
133.008 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
57240266-57478550 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57241561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 29
(I29N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039697]
[ENSMUST00000085240]
[ENSMUST00000138350]
[ENSMUST00000196198]
|
AlphaFold |
P63080 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039697
AA Change: I72N
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000038051 Gene: ENSMUSG00000033676 AA Change: I72N
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 |
possibly damaging
Transcript: ENSMUST00000085240
AA Change: I94N
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000082337 Gene: ENSMUSG00000033676 AA Change: I94N
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: I29N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118835 Gene: ENSMUSG00000033676 AA Change: I29N
Domain | Start | End | E-Value | Type |
Pfam:Neur_chan_LBD
|
1 |
123 |
2.5e-30 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196198
AA Change: I72N
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143353 Gene: ENSMUSG00000033676 AA Change: I72N
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: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
Validation Efficiency |
98% (41/42) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
T |
A |
14: 35,533,864 (GRCm39) |
H14L |
probably benign |
Het |
Adar |
A |
G |
3: 89,654,525 (GRCm39) |
N368D |
probably benign |
Het |
Adcy10 |
T |
C |
1: 165,334,204 (GRCm39) |
V71A |
probably benign |
Het |
Ank1 |
C |
T |
8: 23,598,247 (GRCm39) |
T755I |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,885,161 (GRCm39) |
Y632F |
probably damaging |
Het |
Bbc3 |
A |
G |
7: 16,046,124 (GRCm39) |
D20G |
possibly damaging |
Het |
Bche |
T |
G |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
Col12a1 |
A |
G |
9: 79,607,782 (GRCm39) |
Y349H |
possibly damaging |
Het |
Crip2 |
T |
C |
12: 113,104,213 (GRCm39) |
C8R |
probably damaging |
Het |
Dhx58 |
T |
A |
11: 100,589,232 (GRCm39) |
|
probably null |
Het |
Dnah2 |
G |
A |
11: 69,312,567 (GRCm39) |
R4333C |
probably damaging |
Het |
Dnajb12 |
T |
C |
10: 59,732,325 (GRCm39) |
|
probably null |
Het |
Dzank1 |
T |
C |
2: 144,318,014 (GRCm39) |
E718G |
possibly damaging |
Het |
Erfl |
C |
A |
7: 24,627,986 (GRCm39) |
G181V |
possibly damaging |
Het |
Fbxo28 |
C |
T |
1: 182,169,025 (GRCm39) |
G38R |
unknown |
Het |
Foxb2 |
A |
G |
19: 16,849,983 (GRCm39) |
F341S |
probably benign |
Het |
Gm7298 |
G |
A |
6: 121,744,653 (GRCm39) |
R557H |
probably benign |
Het |
Itih3 |
T |
A |
14: 30,634,659 (GRCm39) |
Q116L |
possibly damaging |
Het |
Lingo1 |
T |
C |
9: 56,527,149 (GRCm39) |
Y480C |
probably damaging |
Het |
Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,169,824 (GRCm39) |
Y113C |
probably damaging |
Het |
Mcm3ap |
C |
T |
10: 76,340,087 (GRCm39) |
P1453S |
possibly damaging |
Het |
Mdn1 |
T |
G |
4: 32,774,041 (GRCm39) |
F5551V |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,619,820 (GRCm39) |
M1457K |
probably benign |
Het |
Nbeal2 |
T |
A |
9: 110,468,459 (GRCm39) |
E372V |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,323,879 (GRCm39) |
S508T |
probably benign |
Het |
Nebl |
A |
T |
2: 17,353,637 (GRCm39) |
D971E |
probably damaging |
Het |
Nlrp10 |
A |
T |
7: 108,526,107 (GRCm39) |
M77K |
probably damaging |
Het |
Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
Or2y1d |
A |
G |
11: 49,321,825 (GRCm39) |
N174S |
probably damaging |
Het |
Or52ad1 |
A |
T |
7: 102,996,002 (GRCm39) |
N44K |
probably damaging |
Het |
Or8c18 |
G |
T |
9: 38,203,413 (GRCm39) |
M57I |
probably benign |
Het |
Pidd1 |
A |
T |
7: 141,020,215 (GRCm39) |
D570E |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 45,001,631 (GRCm39) |
D427G |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,441,575 (GRCm39) |
Y364C |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,319,388 (GRCm39) |
S142G |
probably damaging |
Het |
Rack1 |
T |
C |
11: 48,694,322 (GRCm39) |
V174A |
probably damaging |
Het |
Rhbdl3 |
C |
T |
11: 80,228,322 (GRCm39) |
A264V |
probably damaging |
Het |
Sh3bp5 |
T |
A |
14: 31,101,473 (GRCm39) |
M170L |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,799,793 (GRCm39) |
F125L |
possibly damaging |
Het |
Slc6a4 |
T |
C |
11: 76,917,994 (GRCm39) |
Y579H |
probably benign |
Het |
Tmem106b |
A |
T |
6: 13,081,554 (GRCm39) |
T154S |
possibly damaging |
Het |
Xrcc5 |
A |
G |
1: 72,382,189 (GRCm39) |
D455G |
possibly 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 |
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 |
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'- CAAGCTGTTGAAAGGCTACG -3'
(R):5'- TGAAATGCCTGGGTGCATC -3'
Sequencing Primer
(F):5'- GCTGTTGAAAGGCTACGACATTC -3'
(R):5'- ACTCTGGGCCAGTCTAGGAC -3'
|
Posted On |
2018-11-06 |