Incidental Mutation 'R8851:Gabrb2'
| ID |
675017 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R8851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
42310584-42519855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42312186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 4
(V4I)
|
| 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: V4I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: V4I
| 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: V4I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: V4I
| 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: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
A |
1: 173,159,683 (GRCm39) |
I279F |
probably benign |
Het |
| Adamts7 |
A |
G |
9: 90,075,163 (GRCm39) |
N965S |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,691,535 (GRCm39) |
Y1142C |
probably damaging |
Het |
| Apoa4 |
A |
G |
9: 46,153,906 (GRCm39) |
K169R |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,577,084 (GRCm39) |
K74N |
probably benign |
Het |
| Defa39 |
T |
A |
8: 22,193,555 (GRCm39) |
I22F |
possibly damaging |
Het |
| Dgcr2 |
G |
A |
16: 17,690,507 (GRCm39) |
T41I |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,690,300 (GRCm39) |
V245A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,559,398 (GRCm39) |
S715T |
probably benign |
Het |
| Epb41l1 |
A |
T |
2: 156,364,431 (GRCm39) |
H980L |
probably benign |
Het |
| Erc2 |
A |
T |
14: 28,039,216 (GRCm39) |
E973V |
probably null |
Het |
| Fam124b |
T |
A |
1: 80,190,882 (GRCm39) |
Q167L |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,217,643 (GRCm39) |
E46G |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,256,922 (GRCm39) |
N841K |
probably damaging |
Het |
| Gnpat |
A |
G |
8: 125,601,004 (GRCm39) |
H161R |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,197,062 (GRCm39) |
M206L |
possibly damaging |
Het |
| Grid2ip |
T |
C |
5: 143,348,352 (GRCm39) |
F148L |
possibly damaging |
Het |
| Hemk1 |
A |
G |
9: 107,213,412 (GRCm39) |
V128A |
probably benign |
Het |
| Ism1 |
G |
T |
2: 139,591,465 (GRCm39) |
S273I |
probably damaging |
Het |
| Kcnab3 |
G |
T |
11: 69,218,990 (GRCm39) |
|
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,291,993 (GRCm39) |
Y1430H |
unknown |
Het |
| Lama2 |
A |
G |
10: 27,242,119 (GRCm39) |
V279A |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,804,680 (GRCm39) |
W119* |
probably null |
Het |
| Lrrc42 |
A |
G |
4: 107,096,375 (GRCm39) |
V276A |
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,270,618 (GRCm39) |
F163L |
probably damaging |
Het |
| Map2k2 |
A |
G |
10: 80,955,097 (GRCm39) |
K196R |
probably damaging |
Het |
| Mfsd11 |
C |
A |
11: 116,752,479 (GRCm39) |
D209E |
probably benign |
Het |
| Muc1 |
C |
A |
3: 89,138,425 (GRCm39) |
F422L |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,631,273 (GRCm39) |
H391R |
probably benign |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Nfatc2ip |
T |
C |
7: 125,986,617 (GRCm39) |
Q346R |
probably damaging |
Het |
| Or8g2b |
A |
G |
9: 39,751,600 (GRCm39) |
Y290C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,299 (GRCm39) |
D430E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,325,155 (GRCm39) |
E929G |
probably damaging |
Het |
| Pip4p2 |
T |
C |
4: 14,912,491 (GRCm39) |
M200T |
possibly damaging |
Het |
| Plekhf1 |
C |
T |
7: 37,921,466 (GRCm39) |
R34H |
probably damaging |
Het |
| Plekhm2 |
A |
T |
4: 141,358,639 (GRCm39) |
V622E |
probably benign |
Het |
| Pomt2 |
G |
A |
12: 87,184,838 (GRCm39) |
T196I |
probably damaging |
Het |
| Ppp1r12c |
C |
T |
7: 4,487,703 (GRCm39) |
G436D |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,687,081 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
A |
G |
17: 45,900,402 (GRCm39) |
I176T |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,755,790 (GRCm39) |
V36E |
probably damaging |
Het |
| Slc7a1 |
A |
C |
5: 148,285,093 (GRCm39) |
S133R |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,073 (GRCm39) |
Y376H |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,062,935 (GRCm39) |
I280T |
probably benign |
Het |
| Svop |
T |
A |
5: 114,192,557 (GRCm39) |
I187F |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,896 (GRCm39) |
I57F |
|
Het |
| Tead3 |
A |
G |
17: 28,551,704 (GRCm39) |
V463A |
probably damaging |
Het |
| Tenm4 |
G |
C |
7: 96,501,710 (GRCm39) |
G1305R |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,900,677 (GRCm39) |
F594L |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,334,573 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,593,090 (GRCm39) |
I254V |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,487,219 (GRCm39) |
M559V |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,643,437 (GRCm39) |
H358Q |
probably null |
Het |
| Zcwpw1 |
A |
C |
5: 137,820,626 (GRCm39) |
D597A |
probably damaging |
Het |
| Zfp318 |
A |
T |
17: 46,710,761 (GRCm39) |
Y828F |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,032,194 (GRCm39) |
N582I |
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 |
|
|
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 |
|
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'- ACTCTGGATGCATTTCTGGG -3'
(R):5'- CCAGCGACATATTACTAGGGTC -3'
Sequencing Primer
(F):5'- CTCTGGATGCATTTCTGGGGTAGTAG -3'
(R):5'- GCGACATATTACTAGGGTCATTGAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation