Mutagenetix > Incidental Mutation

Incidental Mutation 'R4788:Gabra1'

367264

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R4788 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42021766-42073757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42037980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 213 (R213S)

Ref Sequence

ENSEMBL: ENSMUSP00000146133 (fasta)

Gene Model

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

AlphaFold

P62812

Predicted Effect

probably damaging
Transcript: ENSMUST00000020707
AA Change: R213S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803
AA Change: R213S

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 damaging
Transcript: ENSMUST00000205546
AA Change: R213S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206105
AA Change: R213S

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,960,361 (GRCm39)	D815N	probably damaging	Het
Abcc9	A	T	6: 142,566,456 (GRCm39)	C1135*	probably null	Het
Ap3b1	G	A	13: 94,702,149 (GRCm39)	M1067I	unknown	Het
Arhgap15	T	C	2: 43,638,902 (GRCm39)	M1T	probably null	Het
Boc	T	C	16: 44,320,796 (GRCm39)	D288G	probably damaging	Het
Brsk1	G	T	7: 4,701,954 (GRCm39)		probably null	Het
Cabp1	T	C	5: 115,313,530 (GRCm39)	N226S	probably benign	Het
Capn13	A	T	17: 73,644,427 (GRCm39)	Y367*	probably null	Het
Ccdc191	A	G	16: 43,777,185 (GRCm39)	E632G	probably damaging	Het
Cit	T	C	5: 116,071,565 (GRCm39)	S591P	probably damaging	Het
Ckmt1	T	C	2: 121,190,427 (GRCm39)	V118A	possibly damaging	Het
Cndp2	T	C	18: 84,693,289 (GRCm39)	N157S	probably damaging	Het
Col6a3	A	G	1: 90,700,672 (GRCm39)		probably null	Het
Coq2	A	T	5: 100,805,775 (GRCm39)	V287E	probably damaging	Het
Cpa6	T	C	1: 10,478,502 (GRCm39)	K278R	possibly damaging	Het
Cracdl	A	T	1: 37,670,556 (GRCm39)	I128K	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a25	A	T	5: 145,921,892 (GRCm39)	Y347*	probably null	Het
Dcun1d4	G	T	5: 73,691,971 (GRCm39)	W160L	probably damaging	Het
Dennd4c	A	G	4: 86,738,200 (GRCm39)	T994A	probably benign	Het
Dhx57	T	C	17: 80,582,760 (GRCm39)	T229A	probably benign	Het
Dnah6	T	A	6: 73,106,513 (GRCm39)	R1741S	probably damaging	Het
Dock1	T	A	7: 134,747,213 (GRCm39)	V1508D	probably damaging	Het
Donson	T	C	16: 91,484,721 (GRCm39)	T117A	possibly damaging	Het
Dtnb	A	G	12: 3,822,699 (GRCm39)	D533G	probably damaging	Het
Fcrl5	A	G	3: 87,364,495 (GRCm39)	N470S	probably damaging	Het
Focad	T	A	4: 88,275,706 (GRCm39)	V1105E	unknown	Het
Fry	T	C	5: 150,323,101 (GRCm39)	V1084A	probably benign	Het
Gbp2b	A	C	3: 142,317,171 (GRCm39)	K509T	probably benign	Het
Gprc6a	T	C	10: 51,491,104 (GRCm39)	T811A	probably benign	Het
Hmgcs2	A	G	3: 98,198,400 (GRCm39)	D101G	probably damaging	Het
Ifna11	G	A	4: 88,738,245 (GRCm39)	W17*	probably null	Het
Ighv1-62-3	T	A	12: 115,424,672 (GRCm39)	M100L	probably benign	Het
Lgmn	T	A	12: 102,368,936 (GRCm39)	Y181F	probably benign	Het
Map4k4	T	C	1: 40,043,076 (GRCm39)	S644P	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Nav1	C	T	1: 135,397,461 (GRCm39)	A903T	probably benign	Het
Nop53	T	C	7: 15,676,240 (GRCm39)	E153G	possibly damaging	Het
Nop56	G	T	2: 130,120,820 (GRCm39)	V190L	probably benign	Het
Nyap2	A	T	1: 81,247,112 (GRCm39)	M687L	probably benign	Het
Or4a81	G	A	2: 89,619,480 (GRCm39)	S72F	probably damaging	Het
Or8g17	T	C	9: 38,930,217 (GRCm39)	T207A	probably benign	Het
Or8g26	A	G	9: 39,095,908 (GRCm39)	T145A	probably benign	Het
Osbp2	T	C	11: 3,813,320 (GRCm39)	K183R	probably benign	Het
Pappa2	A	G	1: 158,611,487 (GRCm39)	V1492A	possibly damaging	Het
Pax1	A	G	2: 147,208,124 (GRCm39)	Q244R	possibly damaging	Het
Pcdh9	C	A	14: 94,124,851 (GRCm39)	V317F	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,417 (GRCm39)	Q489L	probably damaging	Het
Poln	A	T	5: 34,286,675 (GRCm39)	S164R	probably benign	Het
Ptf1a	T	C	2: 19,450,762 (GRCm39)	S31P	probably benign	Het
Rasal3	A	T	17: 32,618,312 (GRCm39)	D164E	probably benign	Het
Rnf170	A	G	8: 26,630,891 (GRCm39)	E168G	probably damaging	Het
Rubcn	A	G	16: 32,656,778 (GRCm39)		probably null	Het
Sec16b	A	T	1: 157,389,094 (GRCm39)	T830S	possibly damaging	Het
Sel1l3	A	G	5: 53,289,175 (GRCm39)	V882A	probably benign	Het
Sfpq	A	G	4: 126,919,791 (GRCm39)	E512G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,302,518 (GRCm39)	L187P	probably damaging	Het
Skint6	C	T	4: 113,095,533 (GRCm39)	G42D	possibly damaging	Het
Slc7a2	A	G	8: 41,367,023 (GRCm39)	I526V	probably benign	Het
Spmip7	T	C	11: 11,438,652 (GRCm39)		probably null	Het
Ssh2	A	T	11: 77,320,624 (GRCm39)	N328Y	probably damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tom1l2	A	G	11: 60,139,844 (GRCm39)	L275P	probably damaging	Het
Trgv5	A	G	13: 19,376,724 (GRCm39)	K57R	probably benign	Het
Tyrp1	C	T	4: 80,763,180 (GRCm39)	R356*	probably null	Het
Zan	A	G	5: 137,440,375 (GRCm39)	L1953P	unknown	Het
Zfhx3	T	C	8: 109,520,842 (GRCm39)	S655P	probably damaging	Het
Zmym1	T	C	4: 126,948,090 (GRCm39)	T94A	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
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
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

PCR Primer
(F):5'- AATGAATGACAGGTATAGCTCTGG -3'
(R):5'- GCAACTGAGTATGTGAGCTTTC -3'

Sequencing Primer
(F):5'- AGCTCTGGAAAAATTTCTCATTCCC -3'
(R):5'- GCCATCTGCAACAATGTGG -3'

Posted On

2015-12-29