Incidental Mutation 'R7011:Gabrb2'
ID |
545033 |
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 |
045112-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.402)
|
Stock # |
R7011 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42517488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 399
(S399P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007797]
[ENSMUST00000192403]
|
AlphaFold |
P63137 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007797
AA Change: S399P
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000007797 Gene: ENSMUSG00000007653 AA Change: S399P
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: S437P
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000141868 Gene: ENSMUSG00000007653 AA Change: S437P
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (66/69) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
C |
T |
11: 46,033,845 (GRCm39) |
P886S |
probably benign |
Het |
Anapc1 |
C |
T |
2: 128,490,601 (GRCm39) |
|
probably null |
Het |
Ankrd34c |
C |
A |
9: 89,611,001 (GRCm39) |
G447* |
probably null |
Het |
Apbb1ip |
A |
T |
2: 22,725,943 (GRCm39) |
E238D |
probably damaging |
Het |
Arfgap1 |
T |
C |
2: 180,613,935 (GRCm39) |
L110P |
probably damaging |
Het |
Arhgap21 |
G |
A |
2: 20,853,689 (GRCm39) |
T1901I |
possibly damaging |
Het |
Brpf1 |
C |
A |
6: 113,295,427 (GRCm39) |
Q679K |
probably benign |
Het |
Btnl2 |
A |
G |
17: 34,582,487 (GRCm39) |
E351G |
probably damaging |
Het |
Cd209f |
T |
A |
8: 4,154,859 (GRCm39) |
T80S |
probably benign |
Het |
Cdc16 |
A |
G |
8: 13,819,451 (GRCm39) |
E349G |
probably damaging |
Het |
Cfap53 |
A |
T |
18: 74,462,564 (GRCm39) |
D436V |
probably benign |
Het |
Crhr2 |
A |
T |
6: 55,076,195 (GRCm39) |
|
probably null |
Het |
Cux1 |
T |
C |
5: 136,388,887 (GRCm39) |
K226E |
probably damaging |
Het |
Ddr2 |
A |
T |
1: 169,809,672 (GRCm39) |
D768E |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,632,346 (GRCm39) |
L435P |
probably damaging |
Het |
Dnah11 |
AGGCC |
AGGCCGGCC |
12: 117,885,753 (GRCm39) |
|
probably null |
Het |
Eif4ebp1 |
G |
A |
8: 27,763,372 (GRCm39) |
R55Q |
probably damaging |
Het |
Fbh1 |
T |
A |
2: 11,767,774 (GRCm39) |
D358V |
probably damaging |
Het |
Fra10ac1 |
T |
A |
19: 38,177,242 (GRCm39) |
E304D |
probably benign |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gprin2 |
G |
T |
14: 33,917,393 (GRCm39) |
H126N |
probably null |
Het |
Gucy1a1 |
A |
G |
3: 82,016,422 (GRCm39) |
S189P |
probably damaging |
Het |
Htr1d |
T |
C |
4: 136,170,317 (GRCm39) |
M182T |
probably benign |
Het |
Lipc |
A |
G |
9: 70,726,236 (GRCm39) |
F73L |
probably benign |
Het |
Liph |
A |
G |
16: 21,802,847 (GRCm39) |
I74T |
probably damaging |
Het |
Lrif1 |
T |
G |
3: 106,639,601 (GRCm39) |
Y229D |
probably damaging |
Het |
Magel2 |
C |
T |
7: 62,028,281 (GRCm39) |
T395I |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 104,013,070 (GRCm39) |
N139S |
probably damaging |
Het |
Man2c1 |
T |
A |
9: 57,045,117 (GRCm39) |
V336E |
probably damaging |
Het |
Mapk12 |
A |
T |
15: 89,019,803 (GRCm39) |
Y135N |
probably damaging |
Het |
Mapkapk3 |
C |
T |
9: 107,166,595 (GRCm39) |
|
probably benign |
Het |
Mast1 |
A |
T |
8: 85,638,574 (GRCm39) |
Y653* |
probably null |
Het |
Muc16 |
T |
A |
9: 18,548,747 (GRCm39) |
I5849F |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,548,839 (GRCm39) |
H5818L |
probably benign |
Het |
Ndufa10 |
A |
G |
1: 92,398,581 (GRCm39) |
S68P |
probably damaging |
Het |
Nedd1 |
C |
A |
10: 92,526,635 (GRCm39) |
L503F |
probably benign |
Het |
Nr1i3 |
A |
G |
1: 171,041,927 (GRCm39) |
M4V |
probably benign |
Het |
Or12e9 |
G |
A |
2: 87,202,604 (GRCm39) |
A243T |
possibly damaging |
Het |
Or2av9 |
T |
A |
11: 58,380,970 (GRCm39) |
I204F |
possibly damaging |
Het |
Or4f14b |
A |
T |
2: 111,775,031 (GRCm39) |
F257I |
probably benign |
Het |
Or9i2 |
T |
C |
19: 13,816,403 (GRCm39) |
I45V |
probably benign |
Het |
Pcdh18 |
A |
T |
3: 49,709,231 (GRCm39) |
S695T |
probably benign |
Het |
Pcdha1 |
T |
C |
18: 37,063,588 (GRCm39) |
I84T |
probably damaging |
Het |
Plek |
T |
A |
11: 16,944,760 (GRCm39) |
D90V |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,649,825 (GRCm39) |
C47R |
probably damaging |
Het |
Psg27 |
G |
C |
7: 18,290,798 (GRCm39) |
N468K |
probably benign |
Het |
Ptchd4 |
G |
A |
17: 42,814,759 (GRCm39) |
E887K |
probably benign |
Het |
Rabgap1 |
C |
T |
2: 37,430,492 (GRCm39) |
L678F |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,968,904 (GRCm39) |
Y429C |
probably damaging |
Het |
Ros1 |
A |
T |
10: 52,056,272 (GRCm39) |
C73S |
probably damaging |
Het |
Rtkn2 |
G |
A |
10: 67,815,495 (GRCm39) |
|
probably benign |
Het |
Slc25a42 |
A |
G |
8: 70,639,352 (GRCm39) |
S242P |
probably damaging |
Het |
Smtnl1 |
T |
A |
2: 84,648,753 (GRCm39) |
D167V |
probably benign |
Het |
Smurf2 |
A |
G |
11: 106,724,610 (GRCm39) |
L511P |
probably benign |
Het |
Stbd1 |
A |
T |
5: 92,752,977 (GRCm39) |
K156* |
probably null |
Het |
Tenm4 |
G |
T |
7: 96,545,342 (GRCm39) |
G2453* |
probably null |
Het |
Tent4a |
C |
T |
13: 69,648,199 (GRCm39) |
G489S |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,309,523 (GRCm39) |
K1760E |
probably damaging |
Het |
Triobp |
T |
A |
15: 78,862,923 (GRCm39) |
L1427Q |
probably damaging |
Het |
Uaca |
A |
G |
9: 60,777,650 (GRCm39) |
E679G |
probably damaging |
Het |
Ucn3 |
T |
G |
13: 3,991,421 (GRCm39) |
H77P |
possibly damaging |
Het |
Wnk2 |
T |
A |
13: 49,224,567 (GRCm39) |
D998V |
probably damaging |
Het |
Xrcc3 |
A |
G |
12: 111,770,969 (GRCm39) |
V320A |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,345,925 (GRCm39) |
T1435A |
possibly damaging |
Het |
Zfp36l2 |
G |
T |
17: 84,493,861 (GRCm39) |
H259N |
possibly damaging |
Het |
Zfp619 |
A |
T |
7: 39,187,186 (GRCm39) |
H1072L |
probably damaging |
Het |
Zfy2 |
T |
A |
Y: 2,107,127 (GRCm39) |
E502D |
possibly damaging |
Het |
Zfyve16 |
G |
A |
13: 92,658,495 (GRCm39) |
P472L |
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 |
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'- GCAACGGCTTATGGTTTCAG -3'
(R):5'- CTTCTCACGGAAGGCTGTAG -3'
Sequencing Primer
(F):5'- CAACGGCTTATGGTTTCAGATGTACC -3'
(R):5'- CACGGAAGGCTGTAGTTTAGTTCAC -3'
|
Posted On |
2019-05-13 |