Incidental Mutation 'IGL03357:Gabrb2'
| ID |
419977 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabrb2
|
| Ensembl Gene |
ENSMUSG00000007653 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit beta 2 |
| Synonyms |
C030021G16Rik, Gabrb-2, C030002O17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.402)
|
| Stock # |
IGL03357
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42482771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 210
(F210L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007797]
[ENSMUST00000192403]
|
| AlphaFold |
P63137 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007797
AA Change: F210L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: F210L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
36 |
242 |
8.7e-52 |
PFAM |
|
Pfam:Neur_chan_memb
|
249 |
469 |
7.5e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192403
AA Change: F210L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: F210L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
36 |
242 |
1.1e-54 |
PFAM |
|
Pfam:Neur_chan_memb
|
249 |
507 |
6.6e-55 |
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 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show hyperactivity and abnormal GABA-mediated receptor currents. Homozygotes for a derivative of this allele show a sexually dimorphic cochlear phenotype associated with OHC dysfunction. Homozygotes for a knock-in allele show altered behavioral response to etomidate. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
T |
19: 8,986,689 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,799,233 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chd6 |
T |
C |
2: 160,859,936 (GRCm39) |
|
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,171,062 (GRCm39) |
R47Q |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,597,623 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,987,740 (GRCm39) |
G245R |
probably damaging |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,798 (GRCm39) |
S395T |
probably benign |
Het |
| Dcc |
A |
T |
18: 71,460,625 (GRCm39) |
I1155K |
probably damaging |
Het |
| Dpy19l4 |
G |
A |
4: 11,267,615 (GRCm39) |
H442Y |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,687,612 (GRCm39) |
I395M |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,050,736 (GRCm39) |
K374E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,211,402 (GRCm39) |
D660E |
probably damaging |
Het |
| Gm4831 |
C |
T |
17: 37,422,879 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,243,632 (GRCm39) |
M234K |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,956,581 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,553 (GRCm39) |
S210T |
probably benign |
Het |
| Or4k42 |
C |
T |
2: 111,320,289 (GRCm39) |
M71I |
probably benign |
Het |
| Or4k52 |
G |
A |
2: 111,610,871 (GRCm39) |
V69I |
probably benign |
Het |
| Pde1c |
A |
G |
6: 56,157,078 (GRCm39) |
V106A |
probably damaging |
Het |
| Pitpnm3 |
G |
A |
11: 71,961,716 (GRCm39) |
Q284* |
probably null |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,548 (GRCm39) |
L2420P |
probably damaging |
Het |
| Prpf39 |
A |
G |
12: 65,108,211 (GRCm39) |
|
probably benign |
Het |
| Prss28 |
C |
T |
17: 25,528,669 (GRCm39) |
T37I |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,079,369 (GRCm39) |
S108T |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,632,524 (GRCm39) |
H131R |
probably damaging |
Het |
| Tex101 |
A |
T |
7: 24,367,758 (GRCm39) |
I198K |
probably damaging |
Het |
| Thoc2l |
T |
G |
5: 104,668,334 (GRCm39) |
V952G |
probably damaging |
Het |
| Thumpd2 |
T |
C |
17: 81,351,519 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
C |
7: 103,791,763 (GRCm39) |
I109S |
probably benign |
Het |
| Zfp212 |
A |
T |
6: 47,907,771 (GRCm39) |
N250I |
probably benign |
Het |
|
| Other mutations in Gabrb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02275:Gabrb2
|
APN |
11 |
42,482,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02666:Gabrb2
|
APN |
11 |
42,420,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02983:Gabrb2
|
APN |
11 |
42,312,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
H2330:Gabrb2
|
UTSW |
11 |
42,312,258 (GRCm39) |
splice site |
probably benign |
|
|
R0049:Gabrb2
|
UTSW |
11 |
42,484,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Gabrb2
|
UTSW |
11 |
42,484,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Gabrb2
|
UTSW |
11 |
42,378,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Gabrb2
|
UTSW |
11 |
42,420,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1526:Gabrb2
|
UTSW |
11 |
42,482,715 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1856:Gabrb2
|
UTSW |
11 |
42,517,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1898:Gabrb2
|
UTSW |
11 |
42,484,659 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2184:Gabrb2
|
UTSW |
11 |
42,312,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2371:Gabrb2
|
UTSW |
11 |
42,482,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Gabrb2
|
UTSW |
11 |
42,482,734 (GRCm39) |
missense |
probably benign |
|
|
R2993:Gabrb2
|
UTSW |
11 |
42,488,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3951:Gabrb2
|
UTSW |
11 |
42,517,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4167:Gabrb2
|
UTSW |
11 |
42,312,155 (GRCm39) |
unclassified |
probably benign |
|
|
R4168:Gabrb2
|
UTSW |
11 |
42,312,155 (GRCm39) |
unclassified |
probably benign |
|
|
R4497:Gabrb2
|
UTSW |
11 |
42,488,521 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4572:Gabrb2
|
UTSW |
11 |
42,484,744 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4784:Gabrb2
|
UTSW |
11 |
42,488,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Gabrb2
|
UTSW |
11 |
42,420,330 (GRCm39) |
splice site |
probably benign |
|
|
R5345:Gabrb2
|
UTSW |
11 |
42,517,636 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5346:Gabrb2
|
UTSW |
11 |
42,312,216 (GRCm39) |
missense |
probably benign |
|
|
R5575:Gabrb2
|
UTSW |
11 |
42,420,365 (GRCm39) |
intron |
probably benign |
|
|
R5701:Gabrb2
|
UTSW |
11 |
42,378,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:Gabrb2
|
UTSW |
11 |
42,312,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5965:Gabrb2
|
UTSW |
11 |
42,517,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Gabrb2
|
UTSW |
11 |
42,484,758 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6930:Gabrb2
|
UTSW |
11 |
42,488,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Gabrb2
|
UTSW |
11 |
42,517,488 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7045:Gabrb2
|
UTSW |
11 |
42,484,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Gabrb2
|
UTSW |
11 |
42,517,569 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7653:Gabrb2
|
UTSW |
11 |
42,378,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7866:Gabrb2
|
UTSW |
11 |
42,378,050 (GRCm39) |
nonsense |
probably null |
|
|
R8094:Gabrb2
|
UTSW |
11 |
42,488,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8402:Gabrb2
|
UTSW |
11 |
42,378,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Gabrb2
|
UTSW |
11 |
42,517,491 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8851:Gabrb2
|
UTSW |
11 |
42,312,186 (GRCm39) |
missense |
probably benign |
|
|
R9123:Gabrb2
|
UTSW |
11 |
42,482,693 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9125:Gabrb2
|
UTSW |
11 |
42,482,693 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9186:Gabrb2
|
UTSW |
11 |
42,378,200 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9672:Gabrb2
|
UTSW |
11 |
42,312,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9746:Gabrb2
|
UTSW |
11 |
42,517,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF008:Gabrb2
|
UTSW |
11 |
42,517,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Gabrb2
|
UTSW |
11 |
42,313,473 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Posted On |
2016-08-02 |
Incidental Mutation