Incidental Mutation 'IGL03345:Gabrb1'
| ID |
417420 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabrb1
|
| Ensembl Gene |
ENSMUSG00000029212 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit beta 1 |
| Synonyms |
Gabrb-1, B230208N19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
71815456-72306380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72293908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 394
(M394K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031122]
|
| AlphaFold |
P50571 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031122
AA Change: M394K
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: M394K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
37 |
243 |
7.1e-52 |
PFAM |
|
Pfam:Neur_chan_memb
|
250 |
469 |
2.4e-48 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,250,163 (GRCm39) |
W987R |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,069,184 (GRCm39) |
V384A |
probably benign |
Het |
| Akap12 |
T |
C |
10: 4,306,697 (GRCm39) |
V1169A |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,011,460 (GRCm39) |
T950A |
probably benign |
Het |
| Avil |
T |
C |
10: 126,844,826 (GRCm39) |
|
probably benign |
Het |
| Bccip |
A |
G |
7: 133,311,220 (GRCm39) |
D45G |
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,116,508 (GRCm39) |
S729P |
probably benign |
Het |
| C3 |
T |
A |
17: 57,526,585 (GRCm39) |
I799F |
probably damaging |
Het |
| Cstf2 |
C |
T |
X: 132,961,794 (GRCm39) |
R80C |
probably damaging |
Het |
| Degs1l |
A |
T |
1: 180,882,937 (GRCm39) |
H233L |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,873,056 (GRCm39) |
F1130S |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,399,332 (GRCm39) |
V86A |
possibly damaging |
Het |
| Fat2 |
C |
T |
11: 55,173,187 (GRCm39) |
D2509N |
probably damaging |
Het |
| Fut10 |
T |
C |
8: 31,750,069 (GRCm39) |
S452P |
probably damaging |
Het |
| Gkn3 |
T |
A |
6: 87,365,798 (GRCm39) |
E7V |
probably null |
Het |
| Gpld1 |
G |
A |
13: 25,171,007 (GRCm39) |
G803R |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,724,937 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,371,321 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
A |
T |
12: 25,053,044 (GRCm39) |
S445C |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,373,154 (GRCm39) |
K266E |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,146,304 (GRCm39) |
D1454V |
probably damaging |
Het |
| Nrf1 |
A |
C |
6: 30,089,947 (GRCm39) |
T9P |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,200,458 (GRCm39) |
E187G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,886,308 (GRCm39) |
|
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,558,142 (GRCm39) |
Y274H |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,568,556 (GRCm39) |
K149R |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,496,222 (GRCm39) |
E401G |
possibly damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,822,466 (GRCm39) |
R234G |
possibly damaging |
Het |
| Slc6a3 |
A |
G |
13: 73,719,633 (GRCm39) |
D554G |
probably benign |
Het |
| Slc7a2 |
A |
G |
8: 41,369,530 (GRCm39) |
S646G |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,545,206 (GRCm39) |
V231A |
probably benign |
Het |
| Timeless |
T |
G |
10: 128,083,455 (GRCm39) |
S695A |
probably benign |
Het |
| Tmem131l |
G |
A |
3: 83,868,896 (GRCm39) |
P160S |
probably damaging |
Het |
| Tspear |
C |
A |
10: 77,710,716 (GRCm39) |
|
probably null |
Het |
| Ubn1 |
T |
A |
16: 4,899,828 (GRCm39) |
H1113Q |
probably damaging |
Het |
| Vmn2r49 |
T |
G |
7: 9,718,621 (GRCm39) |
K481T |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,213,027 (GRCm39) |
N872S |
probably damaging |
Het |
|
| Other mutations in Gabrb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Gabrb1
|
APN |
5 |
72,265,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00774:Gabrb1
|
APN |
5 |
72,265,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01534:Gabrb1
|
APN |
5 |
72,026,772 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02170:Gabrb1
|
APN |
5 |
72,294,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Gabrb1
|
APN |
5 |
71,858,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03278:Gabrb1
|
APN |
5 |
72,026,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03050:Gabrb1
|
UTSW |
5 |
72,279,497 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4445001:Gabrb1
|
UTSW |
5 |
72,266,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Gabrb1
|
UTSW |
5 |
71,858,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Gabrb1
|
UTSW |
5 |
72,279,289 (GRCm39) |
splice site |
probably benign |
|
|
R0386:Gabrb1
|
UTSW |
5 |
72,266,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1512:Gabrb1
|
UTSW |
5 |
72,266,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Gabrb1
|
UTSW |
5 |
72,266,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Gabrb1
|
UTSW |
5 |
72,265,694 (GRCm39) |
splice site |
probably null |
|
|
R1832:Gabrb1
|
UTSW |
5 |
72,279,281 (GRCm39) |
splice site |
probably null |
|
|
R1961:Gabrb1
|
UTSW |
5 |
71,857,679 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2363:Gabrb1
|
UTSW |
5 |
72,026,916 (GRCm39) |
nonsense |
probably null |
|
|
R4686:Gabrb1
|
UTSW |
5 |
71,857,365 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4840:Gabrb1
|
UTSW |
5 |
71,858,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Gabrb1
|
UTSW |
5 |
72,026,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Gabrb1
|
UTSW |
5 |
72,294,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Gabrb1
|
UTSW |
5 |
72,026,922 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5270:Gabrb1
|
UTSW |
5 |
72,265,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Gabrb1
|
UTSW |
5 |
72,294,105 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5407:Gabrb1
|
UTSW |
5 |
72,279,364 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5621:Gabrb1
|
UTSW |
5 |
72,266,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Gabrb1
|
UTSW |
5 |
72,293,827 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6236:Gabrb1
|
UTSW |
5 |
72,265,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6336:Gabrb1
|
UTSW |
5 |
72,187,241 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7411:Gabrb1
|
UTSW |
5 |
72,279,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8375:Gabrb1
|
UTSW |
5 |
72,187,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9161:Gabrb1
|
UTSW |
5 |
72,187,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9474:Gabrb1
|
UTSW |
5 |
72,265,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Gabrb1
|
UTSW |
5 |
72,279,363 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2016-08-02 |
Incidental Mutation