Mutagenetix > Incidental Mutation

Incidental Mutation 'R5655:Gabra1'

442272

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

043301-MU

Accession Numbers

Essential gene?

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

Stock #

R5655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42021766-42073757 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 42073750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020707] [ENSMUST00000132971] [ENSMUST00000153147] [ENSMUST00000205546] [ENSMUST00000206085] [ENSMUST00000206105] [ENSMUST00000207274]

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 null
Transcript: ENSMUST00000132971
AA Change: C2*

SMART Domains

Protein: ENSMUSP00000126611
Gene: ENSMUSG00000010803
AA Change: C2*

Domain	Start	End	E-Value	Type
low complexity region	50	74	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153147

SMART Domains

Protein: ENSMUSP00000129056
Gene: ENSMUSG00000010803

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
SCOP:d1i9ba_	46	84	2e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169305

Predicted Effect

probably benign
Transcript: ENSMUST00000205546

Predicted Effect

probably null
Transcript: ENSMUST00000206085

Predicted Effect

probably benign
Transcript: ENSMUST00000206105

Predicted Effect

probably benign
Transcript: ENSMUST00000207274

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,746 (GRCm39)	I99F	probably benign	Het
Acan	G	A	7: 78,749,791 (GRCm39)	D1521N	possibly damaging	Het
Acap3	C	T	4: 155,981,076 (GRCm39)	T53I	probably benign	Het
Actr3b	G	T	5: 26,053,366 (GRCm39)	V232F	probably damaging	Het
Adgrl1	G	A	8: 84,665,230 (GRCm39)	V1311M	possibly damaging	Het
Arhgap23	T	C	11: 97,343,372 (GRCm39)		probably null	Het
Asns	A	C	6: 7,685,309 (GRCm39)	M116R	probably benign	Het
Asprv1	A	T	6: 86,605,464 (GRCm39)	E103D	probably benign	Het
Atxn2	T	C	5: 121,885,489 (GRCm39)	I232T	probably damaging	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Bckdha	A	G	7: 25,329,789 (GRCm39)	Y414H	probably damaging	Het
Bod1l	G	A	5: 41,974,387 (GRCm39)	T2309M	probably benign	Het
Cacna2d1	T	A	5: 16,507,333 (GRCm39)	F361I	probably damaging	Het
Cdc45	C	T	16: 18,626,029 (GRCm39)		probably null	Het
Cog4	A	G	8: 111,589,939 (GRCm39)	Y368C	probably damaging	Het
Cplx3	C	T	9: 57,523,258 (GRCm39)	V100M	probably damaging	Het
Cyp4a12b	C	G	4: 115,290,994 (GRCm39)	H341D	probably damaging	Het
Ddx10	A	T	9: 53,120,987 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,431,424 (GRCm39)	Y414F	probably benign	Het
Dync1h1	A	G	12: 110,595,496 (GRCm39)	K1445R	probably benign	Het
Dync2h1	A	C	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
Dzip1	T	A	14: 119,124,644 (GRCm39)		probably null	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fgf14	T	C	14: 124,429,828 (GRCm39)	N36D	probably benign	Het
Fmnl3	A	T	15: 99,219,743 (GRCm39)	F668L	probably damaging	Het
Foxl2	C	T	9: 98,838,048 (GRCm39)	P112L	probably damaging	Het
Foxp2	T	G	6: 15,197,112 (GRCm39)	H51Q	probably damaging	Het
Frem3	A	T	8: 81,339,323 (GRCm39)	T539S	probably benign	Het
Ftcd	G	T	10: 76,423,937 (GRCm39)	G493C	probably damaging	Het
Gab2	A	G	7: 96,948,099 (GRCm39)	S230G	probably benign	Het
Gm14496	A	T	2: 181,637,975 (GRCm39)	I350L	probably benign	Het
Idh2	A	C	7: 79,747,996 (GRCm39)	C235G	probably damaging	Het
Ift140	C	T	17: 25,264,038 (GRCm39)	L514F	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lamc3	C	A	2: 31,815,729 (GRCm39)	R1142S	probably benign	Het
Lmod2	A	T	6: 24,603,853 (GRCm39)	H276L	possibly damaging	Het
Lrrc37a	T	A	11: 103,389,381 (GRCm39)	I2015L	probably benign	Het
Mcf2l	A	G	8: 13,060,444 (GRCm39)	E764G	probably damaging	Het
Mcph1	G	A	8: 18,838,326 (GRCm39)	M749I	probably benign	Het
Msh2	C	T	17: 88,026,871 (GRCm39)	A789V	possibly damaging	Het
Ndufa2	T	C	18: 36,877,519 (GRCm39)	I19V	probably benign	Het
Neurod4	T	A	10: 130,107,002 (GRCm39)	K91*	probably null	Het
Nos1	G	T	5: 118,061,322 (GRCm39)	G883C	probably damaging	Het
Npdc1	A	T	2: 25,297,692 (GRCm39)	H121L	possibly damaging	Het
Or2ak5	G	A	11: 58,611,077 (GRCm39)	H266Y	probably damaging	Het
Or3a10	A	C	11: 73,935,160 (GRCm39)	Y313*	probably null	Het
Orc1	A	G	4: 108,450,636 (GRCm39)	I123V	probably benign	Het
P2ry13	C	T	3: 59,117,260 (GRCm39)	V173M	possibly damaging	Het
Pigk	T	A	3: 152,445,858 (GRCm39)	N156K	probably damaging	Het
Pik3ap1	A	T	19: 41,286,680 (GRCm39)	F569Y	possibly damaging	Het
Pla2g4c	T	A	7: 13,063,889 (GRCm39)		probably null	Het
Plk3	A	G	4: 116,988,677 (GRCm39)	L324P	probably damaging	Het
Pom121	A	G	5: 135,421,171 (GRCm39)	S260P	unknown	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Prrt2	G	A	7: 126,618,574 (GRCm39)	A297V	probably damaging	Het
Prss47	A	T	13: 65,192,857 (GRCm39)	V308E	probably damaging	Het
Ptbp2	T	C	3: 119,517,806 (GRCm39)	I139V	probably benign	Het
Ptprz1	A	T	6: 22,999,772 (GRCm39)	M621L	probably benign	Het
Rab6a	G	A	7: 100,257,501 (GRCm39)		probably null	Het
Ranbp1	C	T	16: 18,059,669 (GRCm39)	D127N	probably damaging	Het
Rnpepl1	G	T	1: 92,847,032 (GRCm39)	R272L	probably damaging	Het
Slc27a2	T	C	2: 126,420,859 (GRCm39)	L314P	probably damaging	Het
Slc6a5	A	T	7: 49,606,218 (GRCm39)	M709L	probably benign	Het
Smarcc1	A	T	9: 109,986,412 (GRCm39)	S238C	probably null	Het
Snx29	C	T	16: 11,573,185 (GRCm39)	L476F	probably damaging	Het
Sorbs2	T	C	8: 46,194,618 (GRCm39)		probably null	Het
St6galnac2	T	C	11: 116,575,972 (GRCm39)	N160D	probably damaging	Het
Thsd7b	A	G	1: 129,556,671 (GRCm39)		probably null	Het
Trpc4ap	G	A	2: 155,495,547 (GRCm39)	T306I	possibly damaging	Het
Ubr5	T	G	15: 38,015,337 (GRCm39)	Y891S	probably damaging	Het
Vmn1r220	A	G	13: 23,368,298 (GRCm39)	F133L	probably benign	Het
Vmn1r56	T	A	7: 5,198,700 (GRCm39)	I306F	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,315 (GRCm39)	V193A	probably benign	Het
Yipf1	T	A	4: 107,202,354 (GRCm39)	V239E	probably damaging	Het
Zfp7	G	T	15: 76,775,629 (GRCm39)	C557F	probably damaging	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
R2061:Gabra1	UTSW	11	42,024,625 (GRCm39)	unclassified	probably benign
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
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

PCR Primer
(F):5'- GCATACTCTTCTAAGGTGTGCTC -3'
(R):5'- TCAGAGTTAAGGGAGTCTGTGC -3'

Sequencing Primer
(F):5'- CTCTTCTAAGGTGTGCTCATTAAAGC -3'
(R):5'- GCTTTTTCAGGACAACGCACG -3'

Posted On

2016-11-09