Incidental Mutation 'R1898:Gabrb2'
| ID |
212142 |
| 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 |
039918-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.402)
|
| Stock # |
R1898 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42484659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 239
(K239E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007797]
[ENSMUST00000192403]
|
| AlphaFold |
P63137 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007797
AA Change: K239E
PolyPhen 2
Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: K239E
| 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: K239E
PolyPhen 2
Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: K239E
| 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: 97.3%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
A |
4: 53,071,977 (GRCm39) |
R1195L |
probably benign |
Het |
| Abca14 |
A |
G |
7: 119,850,392 (GRCm39) |
Y748C |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,099,625 (GRCm39) |
F974S |
probably damaging |
Het |
| Acyp1 |
T |
C |
12: 85,335,114 (GRCm39) |
K2E |
probably benign |
Het |
| Ahcy |
T |
A |
2: 154,904,173 (GRCm39) |
S355C |
probably benign |
Het |
| AI182371 |
A |
G |
2: 34,990,661 (GRCm39) |
V12A |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,525,683 (GRCm39) |
I215T |
probably benign |
Het |
| Aox1 |
C |
T |
1: 58,117,601 (GRCm39) |
R828C |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,062,615 (GRCm39) |
I631F |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,712,532 (GRCm39) |
N789S |
possibly damaging |
Het |
| Brinp3 |
T |
G |
1: 146,776,987 (GRCm39) |
V478G |
possibly damaging |
Het |
| Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
| Celf2 |
C |
T |
2: 6,608,975 (GRCm39) |
V95M |
probably damaging |
Het |
| Chka |
A |
T |
19: 3,942,205 (GRCm39) |
E404D |
probably damaging |
Het |
| Clec5a |
A |
C |
6: 40,558,870 (GRCm39) |
V72G |
probably benign |
Het |
| Cnn1 |
T |
C |
9: 22,012,560 (GRCm39) |
|
probably null |
Het |
| Coq6 |
A |
G |
12: 84,413,737 (GRCm39) |
E89G |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,754,485 (GRCm39) |
I538F |
possibly damaging |
Het |
| Crx |
G |
A |
7: 15,602,148 (GRCm39) |
P177S |
probably damaging |
Het |
| Cysltr2 |
G |
T |
14: 73,266,973 (GRCm39) |
P246T |
probably damaging |
Het |
| Decr1 |
A |
G |
4: 15,929,801 (GRCm39) |
I164T |
probably damaging |
Het |
| Dmtf1 |
A |
T |
5: 9,178,091 (GRCm39) |
V315E |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,275,874 (GRCm39) |
N2587S |
probably benign |
Het |
| E2f6 |
C |
A |
12: 16,874,581 (GRCm39) |
T221K |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,871,426 (GRCm39) |
D3655A |
probably damaging |
Het |
| Fbxw28 |
G |
A |
9: 109,152,452 (GRCm39) |
T384I |
probably benign |
Het |
| Fes |
T |
A |
7: 80,029,659 (GRCm39) |
I608F |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Gen1 |
T |
C |
12: 11,291,609 (GRCm39) |
R727G |
probably benign |
Het |
| Glb1 |
T |
A |
9: 114,253,103 (GRCm39) |
V184E |
probably damaging |
Het |
| Gngt1 |
A |
T |
6: 3,996,724 (GRCm39) |
I57F |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,750,426 (GRCm39) |
I87V |
possibly damaging |
Het |
| Itih1 |
A |
G |
14: 30,654,244 (GRCm39) |
Y674H |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,696,468 (GRCm39) |
C24S |
probably damaging |
Het |
| Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,662,732 (GRCm39) |
N595S |
probably damaging |
Het |
| Myo5c |
C |
T |
9: 75,204,908 (GRCm39) |
T1587I |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,474,937 (GRCm39) |
F910I |
probably damaging |
Het |
| Nradd |
T |
C |
9: 110,450,676 (GRCm39) |
Y167C |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,189,631 (GRCm39) |
E352G |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,641,927 (GRCm39) |
|
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,842 (GRCm39) |
S241T |
probably damaging |
Het |
| Or11g2 |
A |
T |
14: 50,856,231 (GRCm39) |
D184V |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,516 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,722,615 (GRCm39) |
D951G |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,408 (GRCm39) |
F685L |
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,943,796 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
C |
T |
4: 143,677,298 (GRCm39) |
V94M |
probably damaging |
Het |
| Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,269,039 (GRCm39) |
T1542S |
probably benign |
Het |
| Sct |
A |
T |
7: 140,858,761 (GRCm39) |
L57Q |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,317 (GRCm39) |
S316G |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,062,613 (GRCm39) |
L1240S |
probably damaging |
Het |
| Slc4a1 |
C |
T |
11: 102,241,133 (GRCm39) |
E924K |
probably damaging |
Het |
| Sp7 |
A |
T |
15: 102,267,453 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Srebf2 |
A |
G |
15: 82,087,936 (GRCm39) |
T219A |
probably damaging |
Het |
| Tenm3 |
G |
T |
8: 48,763,796 (GRCm39) |
P753T |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,523,053 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,742,466 (GRCm39) |
S2675T |
possibly damaging |
Het |
| Tspan12 |
T |
C |
6: 21,795,693 (GRCm39) |
T166A |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,736,641 (GRCm39) |
D1122G |
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,550 (GRCm39) |
A41T |
probably damaging |
Het |
| Xpo7 |
A |
T |
14: 70,933,064 (GRCm39) |
F276Y |
probably benign |
Het |
| Zdhhc1 |
A |
T |
8: 106,205,378 (GRCm39) |
|
probably null |
Het |
| Zfp319 |
C |
A |
8: 96,055,417 (GRCm39) |
C262F |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,250,582 (GRCm39) |
C383Y |
probably damaging |
Het |
| Zfp57 |
G |
T |
17: 37,320,650 (GRCm39) |
R168L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCTCATTAAAACACCTGGG -3'
(R):5'- ATCCATGTTTGGCCACACAC -3'
Sequencing Primer
(F):5'- TGCTCATTAAAACACCTGGGATCTC -3'
(R):5'- CACACACCACTTGGGAGGAG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation