Incidental Mutation 'IGL00770:Gabrb1'
ID |
277895 |
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 # |
IGL00770
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
71815456-72306380 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 72265789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031122]
[ENSMUST00000199967]
|
AlphaFold |
P50571 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031122
|
SMART Domains |
Protein: ENSMUSP00000031122 Gene: ENSMUSG00000029212
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000199967
|
SMART Domains |
Protein: ENSMUSP00000143682 Gene: ENSMUSG00000029212
Domain | Start | End | E-Value | Type |
Pfam:Neur_chan_LBD
|
4 |
210 |
4.8e-51 |
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,306,776 (GRCm39) |
A1397T |
possibly damaging |
Het |
Aldob |
A |
G |
4: 49,536,843 (GRCm39) |
S349P |
probably benign |
Het |
Cd2 |
A |
T |
3: 101,190,345 (GRCm39) |
|
probably null |
Het |
Cmtm2a |
A |
G |
8: 105,019,562 (GRCm39) |
S43P |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
E2f3 |
A |
T |
13: 30,102,687 (GRCm39) |
D68E |
probably damaging |
Het |
Ect2 |
G |
A |
3: 27,152,592 (GRCm39) |
R869W |
probably damaging |
Het |
Eml1 |
A |
G |
12: 108,480,774 (GRCm39) |
|
probably null |
Het |
Fundc1 |
T |
A |
X: 17,424,252 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
G |
15: 91,686,036 (GRCm39) |
|
probably benign |
Het |
Map3k2 |
C |
T |
18: 32,361,292 (GRCm39) |
P584L |
probably benign |
Het |
Mindy2 |
T |
C |
9: 70,538,315 (GRCm39) |
D340G |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,652,124 (GRCm39) |
D877G |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,136,472 (GRCm39) |
S515P |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,359,405 (GRCm39) |
I305V |
probably benign |
Het |
Pign |
A |
G |
1: 105,525,481 (GRCm39) |
V449A |
probably benign |
Het |
Rad54b |
G |
A |
4: 11,593,765 (GRCm39) |
R131K |
probably benign |
Het |
Rgl3 |
A |
T |
9: 21,899,018 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,566,197 (GRCm39) |
D1407G |
probably damaging |
Het |
Sf3b3 |
A |
T |
8: 111,544,270 (GRCm39) |
I790N |
probably damaging |
Het |
Srebf1 |
C |
T |
11: 60,095,965 (GRCm39) |
R358Q |
probably damaging |
Het |
Tmem18 |
A |
G |
12: 30,638,720 (GRCm39) |
R133G |
unknown |
Het |
Tnfrsf11b |
T |
G |
15: 54,117,468 (GRCm39) |
R262S |
probably benign |
Het |
Tsc1 |
A |
T |
2: 28,555,023 (GRCm39) |
H171L |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
Wdcp |
A |
G |
12: 4,905,303 (GRCm39) |
E608G |
probably damaging |
Het |
|
Other mutations in Gabrb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03345:Gabrb1
|
APN |
5 |
72,293,908 (GRCm39) |
missense |
possibly damaging |
0.53 |
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 |
2015-04-16 |