Incidental Mutation 'R9672:Gabrb2'
ID |
728105 |
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: 0.402)
|
Stock # |
R9672 (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 42312207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 11
(G11R)
|
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: G11R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000007797 Gene: ENSMUSG00000007653 AA Change: G11R
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: G11R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000141868 Gene: ENSMUSG00000007653 AA Change: G11R
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 |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,838,563 (GRCm39) |
K612N |
probably null |
Het |
Atrnl1 |
G |
A |
19: 57,618,695 (GRCm39) |
A138T |
possibly damaging |
Het |
Bicc1 |
T |
C |
10: 70,794,666 (GRCm39) |
T164A |
probably damaging |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Ccdc7a |
A |
G |
8: 129,671,016 (GRCm39) |
S497P |
unknown |
Het |
Cd209d |
C |
G |
8: 3,922,036 (GRCm39) |
G212A |
probably damaging |
Het |
Cog8 |
A |
G |
8: 107,780,658 (GRCm39) |
I200T |
probably damaging |
Het |
Cuzd1 |
T |
A |
7: 130,919,847 (GRCm39) |
I90F |
possibly damaging |
Het |
Cyp4a30b |
T |
A |
4: 115,316,576 (GRCm39) |
C401S |
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,427,422 (GRCm39) |
N209K |
probably benign |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Dcaf11 |
T |
A |
14: 55,806,484 (GRCm39) |
Y468* |
probably null |
Het |
Dennd4a |
A |
G |
9: 64,800,640 (GRCm39) |
D926G |
probably benign |
Het |
Dph7 |
T |
C |
2: 24,855,606 (GRCm39) |
L135P |
probably benign |
Het |
Fcho2 |
A |
T |
13: 98,869,178 (GRCm39) |
C564* |
probably null |
Het |
Gas6 |
A |
G |
8: 13,528,273 (GRCm39) |
S187P |
probably benign |
Het |
Gemin5 |
C |
T |
11: 58,058,585 (GRCm39) |
V93I |
probably benign |
Het |
Gldn |
A |
T |
9: 54,245,780 (GRCm39) |
I444F |
probably damaging |
Het |
Gmps |
T |
C |
3: 63,897,750 (GRCm39) |
V234A |
probably damaging |
Het |
Hand1 |
A |
G |
11: 57,722,516 (GRCm39) |
S33P |
possibly damaging |
Het |
Ice2 |
G |
A |
9: 69,322,899 (GRCm39) |
A465T |
probably benign |
Het |
Irf9 |
T |
C |
14: 55,842,129 (GRCm39) |
S2P |
probably benign |
Het |
Kpna7 |
C |
T |
5: 144,944,776 (GRCm39) |
M21I |
probably benign |
Het |
Lig4 |
A |
G |
8: 10,023,213 (GRCm39) |
M189T |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,779,291 (GRCm39) |
T2698A |
|
Het |
Med10 |
A |
G |
13: 69,963,711 (GRCm39) |
K104R |
probably benign |
Het |
Mfsd14b |
A |
G |
13: 65,260,320 (GRCm39) |
W38R |
probably benign |
Het |
Mrgpra2a |
A |
G |
7: 47,076,490 (GRCm39) |
F256S |
probably benign |
Het |
Myo9a |
A |
G |
9: 59,687,332 (GRCm39) |
K146E |
probably benign |
Het |
Oxgr1 |
T |
A |
14: 120,259,454 (GRCm39) |
Y251F |
probably damaging |
Het |
Pabpc4 |
T |
C |
4: 123,184,133 (GRCm39) |
|
probably null |
Het |
Pde8a |
A |
G |
7: 80,942,014 (GRCm39) |
N151S |
probably damaging |
Het |
Pdilt |
A |
G |
7: 119,100,824 (GRCm39) |
F176L |
possibly damaging |
Het |
Plekhg5 |
C |
A |
4: 152,187,541 (GRCm39) |
D115E |
probably benign |
Het |
Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
Ppp1r9a |
T |
C |
6: 5,007,889 (GRCm39) |
C532R |
unknown |
Het |
Rasa2 |
A |
G |
9: 96,427,781 (GRCm39) |
W695R |
probably damaging |
Het |
Rbpms2 |
A |
G |
9: 65,538,118 (GRCm39) |
N3S |
probably benign |
Het |
Rsph6a |
A |
G |
7: 18,799,842 (GRCm39) |
Y491C |
probably damaging |
Het |
Scel |
T |
A |
14: 103,836,838 (GRCm39) |
N495K |
possibly damaging |
Het |
Setd1a |
T |
C |
7: 127,385,237 (GRCm39) |
L648P |
possibly damaging |
Het |
Snx29 |
A |
T |
16: 11,478,515 (GRCm39) |
R333S |
probably benign |
Het |
Sppl2c |
A |
G |
11: 104,077,344 (GRCm39) |
Y48C |
probably damaging |
Het |
Uba2 |
A |
T |
7: 33,856,749 (GRCm39) |
N230K |
probably benign |
Het |
Utrn |
T |
C |
10: 12,603,613 (GRCm39) |
Q589R |
possibly damaging |
Het |
Vmn1r51 |
T |
A |
6: 90,106,549 (GRCm39) |
L155H |
probably damaging |
Het |
Vmn2r97 |
A |
G |
17: 19,149,442 (GRCm39) |
N277D |
probably benign |
Het |
Wdr97 |
T |
A |
15: 76,240,377 (GRCm39) |
V355E |
|
Het |
Yy1 |
C |
A |
12: 108,759,584 (GRCm39) |
H82Q |
unknown |
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 |
R9186:Gabrb2
|
UTSW |
11 |
42,378,200 (GRCm39) |
missense |
possibly damaging |
0.51 |
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'- TTAAACAAGGAAATCTCGGTCCCC -3'
(R):5'- CCGTCTCTTTAACCAGCGAC -3'
Sequencing Primer
(F):5'- GGGCAGACTAAGTTGGAT -3'
(R):5'- CCAGCGACATATTACTAGGGTCATTG -3'
|
Posted On |
2022-10-06 |