Mutagenetix > Incidental Mutation

Incidental Mutation 'H2330:Gabrb2'

515

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) question?

Stock #

H2330 of strain 521

Quality Score

Status

Validated

Chromosome

Chromosomal Location

42310584-42519855 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 42312258 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007797] [ENSMUST00000192403]

AlphaFold

P63137

Predicted Effect

probably benign
Transcript: ENSMUST00000007797

SMART Domains

Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653

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

noncoding transcript
Transcript: ENSMUST00000136050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143626

Predicted Effect

probably benign
Transcript: ENSMUST00000192403

SMART Domains

Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653

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: 89.9%
3x: 79.5%

Het Detection Efficiency

59.4%

Validation Efficiency

87% (227/262)

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: 3 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Azin1	A	G	15: 38,497,520 (GRCm39)	I191T	probably damaging	Het
Or8d6	T	C	9: 39,854,216 (GRCm39)	F220S	probably damaging	Het
Psme4	A	G	11: 30,801,210 (GRCm39)	E1455G	probably benign	Homo

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
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
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

Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to A transition at base pair 42234933 in the Genbank genomic region NC_000077 for the Gabrb2 gene on chromosome 11 (GTAAGTGTCC ->GTAAATGTCC). The mutation is located within intron 1(from the ATG exon), five nucleotides from the previous exon. The Gabrb2 transcript contains 10 total exons. Multiple transcripts of the Gabrb2 gene are displayed on Ensembl and Vega. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Gabrb2 gene encodes two isoforms of the beta 2 subunit of the gamma-aminobutyric acid (GABA) receptor. The long isoform is 512 amino acids, while the short isoform is missing amino acids 360-397. GABA is the major inhibitory neurotransmitter in the vertebrate brain, and mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. The GABA receptor contains five types of subunits. The beta 2 subunit has an extracellular N-terminus, four transmembrane domains, and a cytoplasmic domain between transmembrane domains three and four at residues 327-489 (Uniprot P63137). Mouse knockouts are relatively normal but display degeneration of hair cells and neurons in the inner ear.

Posted On

2010-11-02