Incidental Mutation 'R4176:Gabrb3'
| ID |
319509 |
| 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 |
041014-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.363)
|
| Stock # |
R4176 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
57240266-57478550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57241061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 13
(F13S)
|
| 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: F13S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000038051
Gene: ENSMUSG00000033676
AA Change: F13S
| 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 |
probably benign
Transcript: ENSMUST00000196198
|
| SMART Domains |
Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,522,000 (GRCm39) |
E1274G |
possibly damaging |
Het |
| Abi3bp |
A |
G |
16: 56,472,563 (GRCm39) |
E424G |
probably damaging |
Het |
| Ankrd10 |
A |
G |
8: 11,662,644 (GRCm39) |
I363T |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,334,361 (GRCm39) |
N204K |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,463,098 (GRCm39) |
S954* |
probably null |
Het |
| Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
| Dagla |
G |
T |
19: 10,240,461 (GRCm39) |
D256E |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,713,720 (GRCm39) |
F230L |
probably benign |
Het |
| Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
| Emilin2 |
A |
T |
17: 71,581,258 (GRCm39) |
D489E |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,754 (GRCm39) |
V87A |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,623,365 (GRCm39) |
|
probably null |
Het |
| Fam149a |
A |
G |
8: 45,794,321 (GRCm39) |
Y614H |
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,926,131 (GRCm39) |
|
probably null |
Het |
| Hydin |
G |
A |
8: 111,320,452 (GRCm39) |
A4499T |
probably benign |
Het |
| Islr2 |
A |
T |
9: 58,107,183 (GRCm39) |
C26S |
probably damaging |
Het |
| Jup |
T |
A |
11: 100,263,287 (GRCm39) |
D696V |
probably benign |
Het |
| Kcnq5 |
A |
C |
1: 21,605,392 (GRCm39) |
V171G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,914,680 (GRCm39) |
S667A |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,418,755 (GRCm39) |
T293A |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,298,405 (GRCm39) |
C138F |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,427,426 (GRCm39) |
H1388L |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,909,085 (GRCm39) |
I76T |
probably benign |
Het |
| Or2z8 |
A |
G |
8: 72,812,028 (GRCm39) |
Y168C |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,947 (GRCm39) |
D19G |
probably benign |
Het |
| Pbx1 |
A |
G |
1: 168,018,841 (GRCm39) |
|
probably null |
Het |
| Pelp1 |
A |
T |
11: 70,287,693 (GRCm39) |
W410R |
probably damaging |
Het |
| Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,806,971 (GRCm39) |
L3482P |
probably benign |
Het |
| Plekhn1 |
C |
T |
4: 156,306,258 (GRCm39) |
G604E |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,793,561 (GRCm39) |
T571A |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,760,828 (GRCm39) |
S252T |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,978,863 (GRCm39) |
M280K |
probably damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,996,206 (GRCm39) |
M293V |
probably benign |
Het |
| Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,866,973 (GRCm39) |
E585D |
probably benign |
Het |
| Slc34a2 |
T |
G |
5: 53,224,910 (GRCm39) |
C350W |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,394,586 (GRCm39) |
|
probably null |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,671,083 (GRCm39) |
K633R |
possibly damaging |
Het |
| Usp38 |
A |
C |
8: 81,719,928 (GRCm39) |
S434A |
probably benign |
Het |
| Zbtb16 |
A |
G |
9: 48,571,101 (GRCm39) |
F555S |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,125,705 (GRCm39) |
S256T |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCAAGCTCTGAGGACTTGG -3'
(R):5'- TCGTTTACGCTGAAGGAGG -3'
Sequencing Primer
(F):5'- TCTGAGGACTTGGCTCCG -3'
(R):5'- TTTACGCTGAAGGAGGGGCAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation