Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02326:Gabrb1'

288459

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gabrb1

Ensembl Gene

ENSMUSG00000029212

Gene Name

gamma-aminobutyric acid (GABA) A receptor, subunit beta 1

Synonyms

Gabrb-1, B230208N19Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

71658113-72149037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71700847 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 72 (I72K)

Ref Sequence

ENSEMBL: ENSMUSP00000031122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031122] [ENSMUST00000199967]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031122
AA Change: I72K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: I72K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Neur_chan_LBD	37	243	7.1e-52	PFAM
Pfam:Neur_chan_memb	250	469	2.4e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199398

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199967
AA Change: I39K

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212
AA Change: I39K

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	4	210	4.8e-51	PFAM

Coding Region Coverage

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 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,671,402	V29A	unknown	Het
Abcc8	C	A	7: 46,122,857		probably null	Het
Ankar	A	T	1: 72,666,355	I614N	probably damaging	Het
Ash1l	G	A	3: 88,966,057	R49H	probably benign	Het
Atp8b1	T	C	18: 64,538,583	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,151,473	I861T	possibly damaging	Het
Cdh20	T	C	1: 104,975,039	L485P	probably damaging	Het
Cobl	A	T	11: 12,386,712	N25K	possibly damaging	Het
Col14a1	T	C	15: 55,418,797	V818A	unknown	Het
Csmd3	G	A	15: 47,755,963		probably benign	Het
Dpp6	A	G	5: 27,664,757	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,898,746	R96C	probably damaging	Het
Fam53a	T	C	5: 33,600,594	D395G	probably damaging	Het
Hmcn2	G	A	2: 31,450,952	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,323,745	T430I	unknown	Het
Ighv1-53	T	A	12: 115,158,615	T47S	probably benign	Het
Ilk	C	A	7: 105,741,633	P261Q	probably damaging	Het
Ints10	T	G	8: 68,804,833	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,402,592	S782R	probably benign	Het
Map3k4	A	G	17: 12,249,010	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113	P374S	probably benign	Het
Olfr1106	G	A	2: 87,049,011	S75L	possibly damaging	Het
Olfr1152	T	A	2: 87,868,675	I228N	probably damaging	Het
Olfr1462	C	A	19: 13,191,415	Y249*	probably null	Het
Olfr670	T	A	7: 104,960,646	I29F	probably benign	Het
Pkd2	T	C	5: 104,477,075	Y246H	probably benign	Het
Plekha5	G	T	6: 140,583,850	G340*	probably null	Het
Plxna4	T	A	6: 32,152,905	M1828L	probably damaging	Het
Prex1	A	G	2: 166,621,185	I252T	probably benign	Het
Pura	A	G	18: 36,287,778	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713	F782I	probably damaging	Het
Rbp4	T	C	19: 38,124,115	D90G	probably damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Scn7a	C	A	2: 66,700,048	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,749,151		probably null	Het
Slc43a1	T	G	2: 84,849,771	L87R	probably damaging	Het
Sppl2c	A	G	11: 104,187,273	T300A	probably benign	Het
Srgap2	T	A	1: 131,356,907		probably null	Het
Tkt	G	A	14: 30,572,225	V531M	probably damaging	Het
Twsg1	T	C	17: 65,926,436	D173G	possibly damaging	Het
Ugt2b37	G	T	5: 87,241,002	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,423,733	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,258,270	I41T	probably benign	Het
Vwa5a	A	T	9: 38,737,956	T667S	probably benign	Het
Xrn2	A	G	2: 147,047,713	E672G	probably benign	Het
Zfp235	T	A	7: 24,135,302	M1K	probably null	Het
Zmym1	T	C	4: 127,047,760	E847G	probably damaging	Het

Other mutations in Gabrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Gabrb1	APN	5	72108446	critical splice donor site	probably null
IGL00774:Gabrb1	APN	5	72108446	critical splice donor site	probably null
IGL01534:Gabrb1	APN	5	71869429	missense	possibly damaging	0.95
IGL02170:Gabrb1	APN	5	72136730	missense	probably damaging	1.00
IGL03278:Gabrb1	APN	5	71869596	missense	probably damaging	1.00
IGL03345:Gabrb1	APN	5	72136565	missense	possibly damaging	0.53
IGL03050:Gabrb1	UTSW	5	72122154	missense	probably benign	0.03
PIT4445001:Gabrb1	UTSW	5	72108782	missense	probably damaging	1.00
PIT4515001:Gabrb1	UTSW	5	71700817	missense	probably damaging	1.00
R0109:Gabrb1	UTSW	5	72121946	splice site	probably benign
R0386:Gabrb1	UTSW	5	72108807	missense	probably damaging	0.99
R1512:Gabrb1	UTSW	5	72108704	missense	probably damaging	1.00
R1512:Gabrb1	UTSW	5	72108705	missense	probably damaging	1.00
R1717:Gabrb1	UTSW	5	72108351	splice site	probably null
R1832:Gabrb1	UTSW	5	72121938	splice site	probably null
R1961:Gabrb1	UTSW	5	71700336	missense	probably benign	0.28
R2363:Gabrb1	UTSW	5	71869573	nonsense	probably null
R4686:Gabrb1	UTSW	5	71700022	missense	possibly damaging	0.53
R4840:Gabrb1	UTSW	5	71700811	missense	probably damaging	1.00
R4916:Gabrb1	UTSW	5	71869421	missense	probably damaging	1.00
R4941:Gabrb1	UTSW	5	72136778	missense	probably damaging	1.00
R5250:Gabrb1	UTSW	5	71869579	missense	possibly damaging	0.80
R5270:Gabrb1	UTSW	5	72108326	missense	probably damaging	1.00
R5364:Gabrb1	UTSW	5	72136762	missense	probably benign	0.33
R5407:Gabrb1	UTSW	5	72122021	missense	possibly damaging	0.90
R5621:Gabrb1	UTSW	5	72108728	missense	probably damaging	1.00
R5790:Gabrb1	UTSW	5	72136484	missense	possibly damaging	0.53
R6236:Gabrb1	UTSW	5	72108320	missense	probably damaging	1.00
R6336:Gabrb1	UTSW	5	72029898	missense	possibly damaging	0.72
R7411:Gabrb1	UTSW	5	72122195	critical splice donor site	probably null
R8375:Gabrb1	UTSW	5	72029829	missense	probably damaging	0.98

Posted On

2015-04-16