Incidental Mutation 'R9125:Gabrb2'
| ID |
693197 |
| 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 |
068925-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.402)
|
| Stock # |
R9125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42482693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 184
(T184A)
|
| 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: T184A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: T184A
| 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: T184A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: T184A
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (64/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
G |
A |
17: 84,976,425 (GRCm39) |
H471Y |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,213,517 (GRCm39) |
L61P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,733,744 (GRCm39) |
D622V |
probably damaging |
Het |
| Antxr2 |
G |
A |
5: 98,151,973 (GRCm39) |
S166F |
probably damaging |
Het |
| Asph |
C |
T |
4: 9,474,928 (GRCm39) |
G682D |
possibly damaging |
Het |
| Asz1 |
T |
C |
6: 18,054,561 (GRCm39) |
E414G |
probably benign |
Het |
| Cabp2 |
G |
A |
19: 4,135,597 (GRCm39) |
D96N |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,860,563 (GRCm39) |
D546E |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,917,762 (GRCm39) |
R545S |
probably benign |
Het |
| Chrna7 |
G |
A |
7: 62,757,357 (GRCm39) |
Q181* |
probably null |
Het |
| Cib1 |
T |
C |
7: 79,877,751 (GRCm39) |
D182G |
probably damaging |
Het |
| Cib4 |
T |
C |
5: 30,655,477 (GRCm39) |
H76R |
probably benign |
Het |
| Cop1 |
T |
G |
1: 159,067,187 (GRCm39) |
F157V |
probably damaging |
Het |
| Cspg4b |
C |
T |
13: 113,505,374 (GRCm39) |
P2168S |
|
Het |
| Dap3 |
T |
A |
3: 88,837,861 (GRCm39) |
T130S |
probably benign |
Het |
| Ddb2 |
T |
A |
2: 91,064,593 (GRCm39) |
K106* |
probably null |
Het |
| Derl3 |
G |
A |
10: 75,730,443 (GRCm39) |
V169I |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,102,074 (GRCm39) |
C353* |
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,736,360 (GRCm39) |
D2110V |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,525 (GRCm39) |
N217S |
probably damaging |
Het |
| Gfpt1 |
G |
A |
6: 87,053,248 (GRCm39) |
V403I |
probably benign |
Het |
| Gm7276 |
A |
G |
18: 77,273,147 (GRCm39) |
S196P |
unknown |
Het |
| Grik1 |
T |
A |
16: 87,852,956 (GRCm39) |
T76S |
|
Het |
| Hrnr |
A |
G |
3: 93,238,863 (GRCm39) |
N3034D |
unknown |
Het |
| Kmt2c |
T |
C |
5: 25,489,194 (GRCm39) |
T4582A |
possibly damaging |
Het |
| Mroh9 |
T |
C |
1: 162,875,412 (GRCm39) |
I496V |
probably benign |
Het |
| Muc3a |
A |
G |
5: 137,245,210 (GRCm39) |
L115P |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,157,871 (GRCm39) |
L40P |
probably damaging |
Het |
| Nipsnap3b |
A |
T |
4: 53,021,177 (GRCm39) |
D216V |
probably damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,294 (GRCm39) |
V225M |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,506,108 (GRCm39) |
I197K |
probably damaging |
Het |
| Otx1 |
G |
A |
11: 21,949,458 (GRCm39) |
Q7* |
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,178,589 (GRCm39) |
I1776T |
probably benign |
Het |
| Pira12 |
T |
A |
7: 3,900,021 (GRCm39) |
I194L |
possibly damaging |
Het |
| Ppp1r37 |
T |
C |
7: 19,269,014 (GRCm39) |
D162G |
probably benign |
Het |
| Ppp4c |
T |
A |
7: 126,386,739 (GRCm39) |
E116V |
probably damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,073 (GRCm39) |
V270A |
probably benign |
Het |
| Prorp |
A |
T |
12: 55,355,611 (GRCm39) |
D372V |
possibly damaging |
Het |
| Psme2 |
T |
A |
14: 55,828,302 (GRCm39) |
K15N |
possibly damaging |
Het |
| Retreg1 |
C |
T |
15: 25,968,618 (GRCm39) |
R125C |
probably damaging |
Het |
| Rgs16 |
A |
G |
1: 153,617,874 (GRCm39) |
E128G |
probably null |
Het |
| Rnf145 |
G |
T |
11: 44,450,819 (GRCm39) |
R381L |
probably damaging |
Het |
| Rnf2 |
T |
C |
1: 151,347,433 (GRCm39) |
K289E |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,669,292 (GRCm39) |
V3504A |
probably benign |
Het |
| Selp |
T |
A |
1: 163,951,356 (GRCm39) |
I30N |
probably benign |
Het |
| Serpinb5 |
C |
T |
1: 106,798,137 (GRCm39) |
A42V |
probably benign |
Het |
| Sfpq |
G |
A |
4: 126,915,633 (GRCm39) |
G142S |
unknown |
Het |
| Sh2d1b2 |
T |
C |
1: 170,075,751 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,086,656 (GRCm39) |
E645K |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,878,598 (GRCm39) |
T372S |
probably benign |
Het |
| Smarca2 |
T |
A |
19: 26,693,583 (GRCm39) |
D1262E |
possibly damaging |
Het |
| Speer4a3 |
T |
C |
5: 26,156,596 (GRCm39) |
M128V |
possibly damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,784,241 (GRCm39) |
Q661L |
probably benign |
Het |
| Tarbp1 |
G |
T |
8: 127,174,202 (GRCm39) |
T868K |
possibly damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,023,531 (GRCm39) |
S101P |
probably damaging |
Het |
| Tnfsf10 |
A |
C |
3: 27,380,028 (GRCm39) |
|
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,823,802 (GRCm39) |
R1001K |
probably null |
Het |
| Unc80 |
T |
A |
1: 66,718,740 (GRCm39) |
S2988T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,335 (GRCm39) |
I268M |
possibly damaging |
Het |
| Vmn1r27 |
G |
A |
6: 58,192,416 (GRCm39) |
T196I |
probably benign |
Het |
| Vmn2r80 |
T |
A |
10: 78,984,760 (GRCm39) |
D37E |
probably benign |
Het |
| Vmn2r9 |
A |
T |
5: 108,996,047 (GRCm39) |
H200Q |
|
Het |
| Washc5 |
T |
C |
15: 59,209,134 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,526,106 (GRCm39) |
F210L |
probably damaging |
Het |
| Wscd2 |
C |
A |
5: 113,715,417 (GRCm39) |
A419E |
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 |
|
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'- CCTCCCTATGACGAGATTGTG -3'
(R):5'- GGTTCCTAGGATACAGAGCCAC -3'
Sequencing Primer
(F):5'- CCCTATGACGAGATTGTGTGAGGAG -3'
(R):5'- CCCAACTCCATATCAAGTTATTCATC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation