Incidental Mutation 'R8819:Gabrb3'
ID |
672927 |
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 |
068652-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.354)
|
Stock # |
R8819 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
57240266-57478550 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57442329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 212
(S212P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143353
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039697]
[ENSMUST00000085240]
[ENSMUST00000138350]
[ENSMUST00000196198]
|
AlphaFold |
P63080 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039697
AA Change: S212P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038051 Gene: ENSMUSG00000033676 AA Change: S212P
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 damaging
Transcript: ENSMUST00000085240
AA Change: S234P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082337 Gene: ENSMUSG00000033676 AA Change: S234P
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 |
probably damaging
Transcript: ENSMUST00000196198
AA Change: S212P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143353 Gene: ENSMUSG00000033676 AA Change: S212P
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 |
|
Meta Mutation Damage Score |
0.8083 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (52/52) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,547,576 (GRCm39) |
L266P |
probably damaging |
Het |
Als2cl |
T |
C |
9: 110,714,855 (GRCm39) |
F125L |
probably benign |
Het |
Arhgap33 |
T |
C |
7: 30,228,165 (GRCm39) |
I406V |
probably benign |
Het |
Bag5 |
T |
C |
12: 111,677,709 (GRCm39) |
N38S |
probably benign |
Het |
Clk2 |
T |
A |
3: 89,082,730 (GRCm39) |
M392K |
probably damaging |
Het |
Cngb1 |
C |
T |
8: 95,980,037 (GRCm39) |
|
probably null |
Het |
Cps1 |
T |
A |
1: 67,267,439 (GRCm39) |
N1402K |
possibly damaging |
Het |
Cracd |
CTGAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAG |
C |
5: 77,004,793 (GRCm39) |
|
probably benign |
Het |
Cyp2u1 |
T |
C |
3: 131,092,016 (GRCm39) |
H168R |
probably damaging |
Het |
Dapl1 |
T |
C |
2: 59,335,056 (GRCm39) |
L70P |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,805,483 (GRCm39) |
K836* |
probably null |
Het |
Dnmbp |
C |
T |
19: 43,889,854 (GRCm39) |
V638M |
probably benign |
Het |
Dsel |
A |
G |
1: 111,787,994 (GRCm39) |
L847P |
probably benign |
Het |
Eef1b2 |
T |
C |
1: 63,217,268 (GRCm39) |
|
probably benign |
Het |
Eif1ad8 |
C |
T |
12: 87,563,910 (GRCm39) |
R82* |
probably null |
Het |
Fbll1 |
T |
C |
11: 35,688,802 (GRCm39) |
K154E |
probably benign |
Het |
Fbxw17 |
A |
T |
13: 50,587,351 (GRCm39) |
K437M |
possibly damaging |
Het |
Fktn |
T |
C |
4: 53,735,001 (GRCm39) |
V174A |
possibly damaging |
Het |
Frem1 |
C |
A |
4: 82,821,754 (GRCm39) |
S2118I |
probably damaging |
Het |
Gimap9 |
A |
G |
6: 48,654,821 (GRCm39) |
D136G |
probably benign |
Het |
Hps1 |
T |
C |
19: 42,759,648 (GRCm39) |
I55V |
probably benign |
Het |
Huwe1 |
A |
G |
X: 150,669,993 (GRCm39) |
K1482R |
probably benign |
Het |
Ift46 |
C |
T |
9: 44,701,819 (GRCm39) |
T283I |
probably damaging |
Het |
Ldb2 |
G |
A |
5: 44,956,757 (GRCm39) |
Q27* |
probably null |
Het |
Lmcd1 |
T |
A |
6: 112,306,770 (GRCm39) |
I314N |
probably damaging |
Het |
Lypd9 |
T |
G |
11: 58,337,129 (GRCm39) |
S115R |
probably damaging |
Het |
Mctp2 |
C |
A |
7: 71,879,081 (GRCm39) |
V259L |
probably benign |
Het |
Midn |
T |
G |
10: 79,990,234 (GRCm39) |
S302A |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,106,291 (GRCm39) |
V797A |
|
Het |
Npm2 |
A |
G |
14: 70,885,768 (GRCm39) |
S146P |
probably damaging |
Het |
Npr1 |
G |
A |
3: 90,372,201 (GRCm39) |
R204C |
probably damaging |
Het |
Or2w2 |
G |
A |
13: 21,757,999 (GRCm39) |
S209L |
probably benign |
Het |
Or52n3 |
T |
A |
7: 104,530,862 (GRCm39) |
V316D |
possibly damaging |
Het |
Or6e1 |
C |
T |
14: 54,520,070 (GRCm39) |
G94D |
probably benign |
Het |
Paip2b |
A |
C |
6: 83,791,738 (GRCm39) |
M48R |
probably damaging |
Het |
Pcsk2 |
T |
A |
2: 143,642,990 (GRCm39) |
H422Q |
probably damaging |
Het |
Pdzph1 |
G |
C |
17: 59,187,715 (GRCm39) |
Y1168* |
probably null |
Het |
Peli2 |
G |
A |
14: 48,490,130 (GRCm39) |
E201K |
possibly damaging |
Het |
Prelp |
T |
C |
1: 133,842,878 (GRCm39) |
N89S |
probably damaging |
Het |
Rapgef3 |
T |
C |
15: 97,646,538 (GRCm39) |
N799S |
probably benign |
Het |
Rel |
C |
T |
11: 23,695,626 (GRCm39) |
R219H |
probably damaging |
Het |
Relch |
T |
A |
1: 105,654,179 (GRCm39) |
F873L |
possibly damaging |
Het |
Rimbp3 |
T |
C |
16: 17,028,771 (GRCm39) |
S732P |
probably benign |
Het |
Rock1 |
A |
G |
18: 10,070,626 (GRCm39) |
F1196S |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,690,069 (GRCm39) |
V1180A |
probably benign |
Het |
Ryr3 |
G |
A |
2: 112,466,137 (GRCm39) |
R4795W |
probably damaging |
Het |
Scn11a |
T |
C |
9: 119,645,586 (GRCm39) |
I123V |
probably benign |
Het |
Sema4b |
G |
C |
7: 79,870,248 (GRCm39) |
E475D |
probably damaging |
Het |
Serinc2 |
C |
A |
4: 130,149,172 (GRCm39) |
M343I |
probably damaging |
Het |
Serinc5 |
G |
T |
13: 92,844,544 (GRCm39) |
V429F |
probably benign |
Het |
Tnfsf10 |
G |
A |
3: 27,389,451 (GRCm39) |
V171M |
probably benign |
Het |
Zfp27 |
T |
C |
7: 29,594,013 (GRCm39) |
K651E |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,213,383 (GRCm39) |
I525T |
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 |
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 |
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'- AGAGCCATTACTTCCCTTCAAC -3'
(R):5'- ACTGGGGAGTGTCTCATTATCAG -3'
Sequencing Primer
(F):5'- CCTTCAACAAAAATAATTTCTTGGGC -3'
(R):5'- TCAGGTGGTCTAATCTTATCATAGG -3'
|
Posted On |
2021-04-30 |