Incidental Mutation 'R4497:Gabrb2'
ID |
331032 |
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 |
041750-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.473)
|
Stock # |
R4497 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42488521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 329
(I329T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007797]
[ENSMUST00000192403]
|
AlphaFold |
P63137 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007797
AA Change: I329T
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000007797 Gene: ENSMUSG00000007653 AA Change: I329T
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 benign
Transcript: ENSMUST00000192403
AA Change: I329T
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000141868 Gene: ENSMUSG00000007653 AA Change: I329T
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: 97.1%
- 20x: 94.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
Adat1 |
T |
C |
8: 112,705,994 (GRCm39) |
S371G |
probably benign |
Het |
Aoc3 |
T |
G |
11: 101,222,871 (GRCm39) |
I369R |
possibly damaging |
Het |
Apobr |
A |
T |
7: 126,186,694 (GRCm39) |
|
probably null |
Het |
Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
Astn2 |
A |
G |
4: 66,037,300 (GRCm39) |
|
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,248,741 (GRCm39) |
D60G |
probably damaging |
Het |
Cacnb4 |
T |
A |
2: 52,367,783 (GRCm39) |
D62V |
probably damaging |
Het |
Cbx8 |
C |
A |
11: 118,931,618 (GRCm39) |
R20L |
probably damaging |
Het |
Ccdc92 |
G |
A |
5: 124,913,337 (GRCm39) |
T64M |
probably benign |
Het |
Cps1 |
G |
T |
1: 67,244,358 (GRCm39) |
S1135I |
probably null |
Het |
Eml2 |
G |
A |
7: 18,913,275 (GRCm39) |
R91H |
probably damaging |
Het |
Fbxl3 |
G |
A |
14: 103,320,313 (GRCm39) |
P426L |
probably damaging |
Het |
Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
Gli3 |
T |
A |
13: 15,898,156 (GRCm39) |
D745E |
possibly damaging |
Het |
Itprid2 |
T |
A |
2: 79,488,164 (GRCm39) |
V749E |
probably damaging |
Het |
Lacc1 |
T |
A |
14: 77,271,470 (GRCm39) |
N239I |
probably damaging |
Het |
Lamb2 |
T |
A |
9: 108,363,997 (GRCm39) |
C1008S |
probably damaging |
Het |
Man2b1 |
G |
A |
8: 85,817,565 (GRCm39) |
V349I |
probably benign |
Het |
Mib1 |
A |
G |
18: 10,811,985 (GRCm39) |
T961A |
possibly damaging |
Het |
Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
Or13c7b |
A |
G |
4: 43,821,175 (GRCm39) |
F62S |
probably damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,122 (GRCm39) |
C115S |
probably benign |
Het |
Pgr |
A |
G |
9: 8,958,420 (GRCm39) |
E809G |
probably damaging |
Het |
Ppp1r3g |
T |
A |
13: 36,153,603 (GRCm39) |
V341E |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,518,517 (GRCm39) |
S1091T |
probably benign |
Het |
Rab44 |
G |
A |
17: 29,358,871 (GRCm39) |
R353K |
probably benign |
Het |
Reck |
G |
A |
4: 43,891,001 (GRCm39) |
M46I |
probably benign |
Het |
Rorb |
G |
T |
19: 18,954,992 (GRCm39) |
S208Y |
possibly damaging |
Het |
Serinc2 |
G |
T |
4: 130,147,847 (GRCm39) |
T410N |
possibly damaging |
Het |
Slc23a2 |
G |
A |
2: 131,898,702 (GRCm39) |
R612* |
probably null |
Het |
Slx4 |
T |
C |
16: 3,812,773 (GRCm39) |
E145G |
probably damaging |
Het |
Spag16 |
A |
G |
1: 70,532,989 (GRCm39) |
D556G |
probably damaging |
Het |
Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
Tmf1 |
A |
T |
6: 97,149,293 (GRCm39) |
F485I |
probably benign |
Het |
Trmo |
C |
T |
4: 46,382,140 (GRCm39) |
V326M |
probably damaging |
Het |
Tssk5 |
T |
C |
15: 76,256,411 (GRCm39) |
D336G |
probably damaging |
Het |
Ttyh2 |
A |
T |
11: 114,601,789 (GRCm39) |
Q471L |
possibly damaging |
Het |
Wdr33 |
A |
C |
18: 32,026,132 (GRCm39) |
Q944H |
unknown |
Het |
Wdr55 |
G |
A |
18: 36,893,448 (GRCm39) |
V37M |
possibly damaging |
Het |
Zbtb18 |
A |
T |
1: 177,274,687 (GRCm39) |
S7C |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,464,680 (GRCm39) |
V1638M |
possibly damaging |
Het |
Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
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 |
|
R4168:Gabrb2
|
UTSW |
11 |
42,312,155 (GRCm39) |
unclassified |
probably benign |
|
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'- GGGTCACTAGGCAGATTTACAAC -3'
(R):5'- TCCTATGTCTAACAACGCCATC -3'
Sequencing Primer
(F):5'- GGCAGATTTACAACAAATTTCCATC -3'
(R):5'- CAAGTTCCACAGGATTCCTCTGGG -3'
|
Posted On |
2015-07-21 |