Incidental Mutation 'R9186:Gabrb2'
| ID |
697392 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R9186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42378200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 139
(M139L)
|
| 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: M139L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: M139L
| 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 |
possibly damaging
Transcript: ENSMUST00000192403
AA Change: M139L
PolyPhen 2
Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: M139L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,164,472 (GRCm39) |
R634L |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,767,383 (GRCm39) |
I210T |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Arid3b |
A |
T |
9: 57,702,217 (GRCm39) |
|
probably null |
Het |
| Arl10 |
A |
G |
13: 54,726,620 (GRCm39) |
N133D |
probably damaging |
Het |
| Bag6 |
C |
T |
17: 35,363,667 (GRCm39) |
R784W |
probably damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,865,426 (GRCm39) |
T42A |
unknown |
Het |
| Cd164 |
C |
A |
10: 41,404,695 (GRCm39) |
P151Q |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,227,213 (GRCm39) |
N218I |
probably damaging |
Het |
| Cfap97 |
C |
T |
8: 46,644,665 (GRCm39) |
R466C |
possibly damaging |
Het |
| Colgalt2 |
C |
A |
1: 152,384,403 (GRCm39) |
T581K |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,154,632 (GRCm39) |
D216V |
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,798,563 (GRCm39) |
S34T |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 139,990,792 (GRCm39) |
K564I |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,021,470 (GRCm39) |
N1315S |
probably benign |
Het |
| Fubp1 |
A |
T |
3: 151,926,153 (GRCm39) |
M292L |
probably damaging |
Het |
| Gk5 |
T |
A |
9: 96,015,469 (GRCm39) |
V95D |
probably benign |
Het |
| Glcci1 |
C |
A |
6: 8,537,826 (GRCm39) |
P148Q |
possibly damaging |
Het |
| Gm19410 |
A |
T |
8: 36,282,629 (GRCm39) |
S1952C |
possibly damaging |
Het |
| Gstm4 |
T |
C |
3: 107,952,049 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,436,227 (GRCm39) |
L1211Q |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,876,457 (GRCm39) |
S1346P |
possibly damaging |
Het |
| Hexb |
A |
C |
13: 97,325,836 (GRCm39) |
V158G |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,439 (GRCm39) |
E251G |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,438,370 (GRCm39) |
Y89C |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,450,766 (GRCm39) |
V611D |
possibly damaging |
Het |
| Itgbl1 |
G |
A |
14: 124,094,970 (GRCm39) |
D332N |
probably benign |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,609 (GRCm39) |
R4L |
unknown |
Het |
| Lgi3 |
A |
G |
14: 70,772,193 (GRCm39) |
Y246C |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,052,248 (GRCm39) |
I1002N |
probably damaging |
Het |
| Myo18a |
C |
T |
11: 77,749,847 (GRCm39) |
T66M |
|
Het |
| Naip6 |
T |
C |
13: 100,436,390 (GRCm39) |
D711G |
possibly damaging |
Het |
| Or4f59 |
C |
A |
2: 111,873,095 (GRCm39) |
C94F |
probably damaging |
Het |
| Orc5 |
T |
A |
5: 22,752,944 (GRCm39) |
Q48L |
probably benign |
Het |
| Oxct2a |
C |
A |
4: 123,216,461 (GRCm39) |
A307S |
probably damaging |
Het |
| Pgls |
T |
C |
8: 72,048,833 (GRCm39) |
*258Q |
probably null |
Het |
| Plekha6 |
C |
T |
1: 133,220,171 (GRCm39) |
R955W |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,556,633 (GRCm39) |
N97K |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,764,159 (GRCm39) |
V544A |
probably benign |
Het |
| Rbl2 |
G |
A |
8: 91,828,006 (GRCm39) |
G574S |
probably damaging |
Het |
| Scamp1 |
T |
A |
13: 94,344,682 (GRCm39) |
T272S |
possibly damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,737 (GRCm39) |
D562V |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,242,288 (GRCm39) |
F1565S |
probably damaging |
Het |
| Tatdn2 |
C |
T |
6: 113,687,125 (GRCm39) |
R779C |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,111,639 (GRCm39) |
I430V |
probably benign |
Het |
| Tmem86b |
T |
C |
7: 4,632,725 (GRCm39) |
D43G |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,773,488 (GRCm39) |
N447S |
|
Het |
| Trmt2a |
T |
C |
16: 18,069,033 (GRCm39) |
S292P |
probably benign |
Het |
| Trpc2 |
T |
C |
7: 101,737,492 (GRCm39) |
V428A |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,823,862 (GRCm39) |
E981G |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 84,017,272 (GRCm39) |
G21* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,490,318 (GRCm39) |
T21A |
probably benign |
Het |
| Vapa |
A |
T |
17: 65,900,507 (GRCm39) |
N88K |
probably damaging |
Het |
| Wasl |
T |
C |
6: 24,664,615 (GRCm39) |
R10G |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,391,810 (GRCm39) |
V4662F |
unknown |
Het |
| Zap70 |
G |
A |
1: 36,818,832 (GRCm39) |
M382I |
possibly damaging |
Het |
| Zdhhc17 |
T |
C |
10: 110,780,281 (GRCm39) |
I624M |
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 |
|
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 |
|
|
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 |
|
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'- CCACAGGACTATACCTTGACCATG -3'
(R):5'- ACACATGGCGTTCTAAGCTC -3'
Sequencing Primer
(F):5'- CCATGTATTTTCAGCAAGCCTGGAG -3'
(R):5'- AGCACGATATAGCCACTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation