Incidental Mutation 'R4168:Gabrb2'
ID |
320665 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabrb2
|
Ensembl Gene |
ENSMUSG00000007653 |
Gene Name |
gamma-aminobutyric acid type A receptor subunit beta 2 |
Synonyms |
C030021G16Rik, Gabrb-2, C030002O17Rik |
MMRRC Submission |
041009-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.402)
|
Stock # |
R4168 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 42312155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007797]
[ENSMUST00000192403]
|
AlphaFold |
P63137 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007797
|
SMART Domains |
Protein: ENSMUSP00000007797 Gene: ENSMUSG00000007653
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 |
noncoding transcript
Transcript: ENSMUST00000136050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140463
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192403
|
SMART Domains |
Protein: ENSMUSP00000141868 Gene: ENSMUSG00000007653
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
98% (39/40) |
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 |
C3 |
A |
T |
17: 57,525,608 (GRCm39) |
F883I |
probably benign |
Het |
Cbr4 |
T |
A |
8: 61,944,555 (GRCm39) |
|
probably benign |
Het |
Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
Chpf2 |
T |
C |
5: 24,796,788 (GRCm39) |
V578A |
possibly damaging |
Het |
Clasrp |
A |
G |
7: 19,315,079 (GRCm39) |
|
probably benign |
Het |
Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
Ctif |
A |
C |
18: 75,770,286 (GRCm39) |
L33R |
probably damaging |
Het |
Dmap1 |
T |
A |
4: 117,538,507 (GRCm39) |
H54L |
possibly damaging |
Het |
Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
C |
7: 27,836,534 (GRCm39) |
L151P |
probably benign |
Het |
Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
Haspin |
A |
G |
11: 73,026,848 (GRCm39) |
L747P |
probably damaging |
Het |
Intu |
C |
T |
3: 40,627,053 (GRCm39) |
P278L |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,493,562 (GRCm39) |
I127T |
probably benign |
Het |
Mogat1 |
T |
C |
1: 78,488,672 (GRCm39) |
V25A |
possibly damaging |
Het |
Nop14 |
A |
G |
5: 34,814,088 (GRCm39) |
S157P |
probably damaging |
Het |
Or5al6 |
A |
G |
2: 85,976,523 (GRCm39) |
I185T |
probably benign |
Het |
Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
Or5k3 |
A |
T |
16: 58,969,363 (GRCm39) |
Y50F |
probably benign |
Het |
Oxct2b |
T |
C |
4: 123,011,478 (GRCm39) |
L466P |
probably damaging |
Het |
Padi6 |
A |
G |
4: 140,469,245 (GRCm39) |
C32R |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,327,958 (GRCm39) |
Y501* |
probably null |
Het |
Rb1cc1 |
G |
A |
1: 6,300,248 (GRCm39) |
V8I |
probably damaging |
Het |
Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
Slco1a7 |
T |
C |
6: 141,684,673 (GRCm39) |
I261V |
probably benign |
Het |
Tmem119 |
T |
C |
5: 113,933,048 (GRCm39) |
E251G |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,069 (GRCm39) |
M249K |
probably benign |
Het |
Zc2hc1a |
A |
G |
3: 7,583,451 (GRCm39) |
T41A |
probably benign |
Het |
Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
Znrf2 |
T |
C |
6: 54,840,945 (GRCm39) |
V173A |
possibly damaging |
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 |
IGL03357:Gabrb2
|
APN |
11 |
42,482,771 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCTGGATGCATTTCTGGG -3'
(R):5'- TTCAACAGCCCTGCTCACAG -3'
Sequencing Primer
(F):5'- CTCTGGATGCATTTCTGGGGTAGTAG -3'
(R):5'- TGCTCACAGAGAGGTATGCAGAC -3'
|
Posted On |
2015-06-12 |