Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Gabra1'

228709

Institutional Source

Beutler Lab

Gene Symbol

Gabra1

Ensembl Gene

ENSMUSG00000010803

Gene Name

gamma-aminobutyric acid type A receptor subunit alpha 1

Synonyms

GABAA alpha 1, Gabra-1, GABAAR alpha1

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R2061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42021766-42073757 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 42024625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020707] [ENSMUST00000205546] [ENSMUST00000206105]

AlphaFold

P62812

Predicted Effect

probably benign
Transcript: ENSMUST00000020707

SMART Domains

Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Neur_chan_LBD	41	249	1.5e-52	PFAM
Pfam:Neur_chan_memb	256	347	8.6e-33	PFAM
low complexity region	395	411	N/A	INTRINSIC
transmembrane domain	420	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205546

Predicted Effect

probably benign
Transcript: ENSMUST00000206105

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 4 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Lekr1	A	C	3: 65,632,860 (GRCm39)	noncoding transcript	Het
Mavs	G	T	2: 131,082,226 (GRCm39)	probably benign	Het
Nav2	C	T	7: 49,248,645 (GRCm39)	probably benign	Het
Obi1	A	G	14: 104,759,968 (GRCm39)	probably benign	Het

Other mutations in Gabra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Gabra1	APN	11	42,024,453 (GRCm39)	missense	probably benign	0.06
IGL01645:Gabra1	APN	11	42,026,389 (GRCm39)	missense	probably damaging	1.00
IGL01893:Gabra1	APN	11	42,024,586 (GRCm39)	missense	possibly damaging	0.80
IGL02114:Gabra1	APN	11	42,026,402 (GRCm39)	missense	probably damaging	1.00
IGL02378:Gabra1	APN	11	42,031,082 (GRCm39)	missense	probably damaging	1.00
IGL03402:Gabra1	APN	11	42,024,345 (GRCm39)	missense	probably damaging	0.96
opulence	UTSW	11	42,053,382 (GRCm39)	missense	probably benign	0.08
Splendor	UTSW	11	42,026,270 (GRCm39)	missense	possibly damaging	0.94
R0546:Gabra1	UTSW	11	42,053,428 (GRCm39)	missense	probably damaging	0.96
R1495:Gabra1	UTSW	11	42,045,771 (GRCm39)	missense	probably damaging	1.00
R1538:Gabra1	UTSW	11	42,031,177 (GRCm39)	missense	probably benign	0.19
R1850:Gabra1	UTSW	11	42,070,403 (GRCm39)	missense	probably benign
R1989:Gabra1	UTSW	11	42,045,842 (GRCm39)	missense	probably damaging	1.00
R3758:Gabra1	UTSW	11	42,066,763 (GRCm39)	missense	probably benign	0.25
R4781:Gabra1	UTSW	11	42,024,488 (GRCm39)	missense	probably damaging	0.98
R4788:Gabra1	UTSW	11	42,037,980 (GRCm39)	missense	probably damaging	1.00
R5215:Gabra1	UTSW	11	42,045,655 (GRCm39)	missense	probably damaging	1.00
R5306:Gabra1	UTSW	11	42,024,379 (GRCm39)	missense	probably benign	0.00
R5655:Gabra1	UTSW	11	42,073,750 (GRCm39)	splice site	probably null
R5789:Gabra1	UTSW	11	42,073,742 (GRCm39)	unclassified	probably benign
R6273:Gabra1	UTSW	11	42,031,138 (GRCm39)	missense	probably damaging	0.99
R6289:Gabra1	UTSW	11	42,045,846 (GRCm39)	missense	probably damaging	0.97
R6298:Gabra1	UTSW	11	42,073,205 (GRCm39)	unclassified	probably benign
R6475:Gabra1	UTSW	11	42,053,382 (GRCm39)	missense	probably benign	0.08
R6552:Gabra1	UTSW	11	42,037,926 (GRCm39)	missense	probably damaging	0.99
R7338:Gabra1	UTSW	11	42,073,121 (GRCm39)	missense	unknown
R7405:Gabra1	UTSW	11	42,045,850 (GRCm39)	missense	probably damaging	1.00
R7515:Gabra1	UTSW	11	42,045,660 (GRCm39)	missense	possibly damaging	0.95
R7725:Gabra1	UTSW	11	42,026,270 (GRCm39)	missense	possibly damaging	0.94
R7727:Gabra1	UTSW	11	42,024,418 (GRCm39)	missense	probably damaging	1.00
R8193:Gabra1	UTSW	11	42,037,968 (GRCm39)	missense	probably damaging	1.00
R8319:Gabra1	UTSW	11	42,026,315 (GRCm39)	missense	probably damaging	1.00
R8362:Gabra1	UTSW	11	42,066,831 (GRCm39)	missense	probably benign	0.15
R8890:Gabra1	UTSW	11	42,024,553 (GRCm39)	missense	probably benign	0.00
R8905:Gabra1	UTSW	11	42,038,052 (GRCm39)	missense	possibly damaging	0.95
R8918:Gabra1	UTSW	11	42,026,320 (GRCm39)	missense	probably damaging	1.00
R9295:Gabra1	UTSW	11	42,044,217 (GRCm39)	missense	probably damaging	1.00
R9601:Gabra1	UTSW	11	42,026,401 (GRCm39)	missense	probably damaging	1.00
R9651:Gabra1	UTSW	11	42,045,853 (GRCm39)	missense	probably damaging	1.00
R9789:Gabra1	UTSW	11	42,024,352 (GRCm39)	missense	probably damaging	1.00
X0066:Gabra1	UTSW	11	42,024,565 (GRCm39)	missense	probably benign	0.10

Predicted Primers

Posted On

2014-09-17