Mutagenetix > Incidental Mutation

Incidental Mutation 'R5621:Gabrb1'

441562

Institutional Source

Beutler Lab

Gene Symbol

Gabrb1

Ensembl Gene

ENSMUSG00000029212

Gene Name

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

Synonyms

Gabrb-1, B230208N19Rik

MMRRC Submission

043279-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71658113-72149037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72108728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 243 (I243F)

Ref Sequence

ENSEMBL: ENSMUSP00000031122 (fasta)

Gene Model

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

AlphaFold

P50571

Predicted Effect

probably damaging
Transcript: ENSMUST00000031122
AA Change: I243F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: I243F

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

probably damaging
Transcript: ENSMUST00000199967
AA Change: I210F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212
AA Change: I210F

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

Meta Mutation Damage Score

0.8685

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (63/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	G	17: 84,695,993 (GRCm38)	L417R	probably damaging	Het
Als2	A	G	1: 59,191,890 (GRCm38)	V854A	probably benign	Het
Bbox1	C	T	2: 110,292,523 (GRCm38)	W140*	probably null	Het
Ccdc28a	A	T	10: 18,216,268 (GRCm38)	N110K	probably benign	Het
Chrna6	C	T	8: 27,407,040 (GRCm38)	E270K	probably damaging	Het
Cilp	A	G	9: 65,278,791 (GRCm38)	K723E	possibly damaging	Het
Ciz1	C	A	2: 32,371,741 (GRCm38)	A455E	probably damaging	Het
Csmd3	T	G	15: 48,313,978 (GRCm38)	H388P	possibly damaging	Het
Dnajc8	A	G	4: 132,553,252 (GRCm38)		probably benign	Het
Dnase1	G	T	16: 4,039,118 (GRCm38)	C164F	probably benign	Het
Dync2h1	A	T	9: 7,120,909 (GRCm38)	I2126K	possibly damaging	Het
Epha4	G	T	1: 77,515,049 (GRCm38)		probably benign	Het
Fer1l6	T	C	15: 58,558,326 (GRCm38)	C201R	probably damaging	Het
Fgf8	T	C	19: 45,742,382 (GRCm38)	Y68C	probably benign	Het
Gm13762	T	C	2: 88,973,466 (GRCm38)	I142V	probably benign	Het
Gm9774	G	A	3: 92,428,357 (GRCm38)	A346V	probably damaging	Het
Gpam	A	C	19: 55,079,260 (GRCm38)	S484A	probably damaging	Het
Hectd2	T	A	19: 36,618,751 (GRCm38)	N745K	probably damaging	Het
Hspa13	T	C	16: 75,766,763 (GRCm38)		probably benign	Het
Ints2	A	G	11: 86,242,947 (GRCm38)	F426L	probably benign	Het
Ism1	A	G	2: 139,678,721 (GRCm38)	T18A	probably damaging	Het
Itih2	T	A	2: 10,102,805 (GRCm38)	Q650L	probably benign	Het
Jmjd4	T	C	11: 59,450,393 (GRCm38)	F50S	probably damaging	Het
Kif5b	T	C	18: 6,226,883 (GRCm38)	N125S	probably benign	Het
Lonp1	G	C	17: 56,620,263 (GRCm38)	A330G	probably benign	Het
Lrfn1	A	G	7: 28,466,836 (GRCm38)	I552V	probably damaging	Het
Mcph1	A	G	8: 18,632,170 (GRCm38)	E441G	probably damaging	Het
Mdn1	T	A	4: 32,716,371 (GRCm38)	H2144Q	possibly damaging	Het
Mms19	A	G	19: 41,966,313 (GRCm38)	S56P	probably benign	Het
Mrgprb3	A	G	7: 48,643,368 (GRCm38)	I145T	probably benign	Het
Myh11	G	A	16: 14,244,855 (GRCm38)	T287I	probably damaging	Het
Npas2	A	G	1: 39,359,713 (GRCm38)	T730A	probably benign	Het
Olfr1229	G	A	2: 89,282,353 (GRCm38)	P281L	probably damaging	Het
Pcdhgb1	A	G	18: 37,682,169 (GRCm38)	E571G	possibly damaging	Het
Pcx	T	A	19: 4,619,167 (GRCm38)	V731E	possibly damaging	Het
Pgm1	T	A	5: 64,112,038 (GRCm38)	Y489*	probably null	Het
Rrp12	T	C	19: 41,880,417 (GRCm38)	T541A	probably benign	Het
Ryr3	C	T	2: 112,900,984 (GRCm38)	W660*	probably null	Het
Sertad2	T	A	11: 20,648,061 (GRCm38)	F86I	possibly damaging	Het
Slc11a1	G	A	1: 74,380,906 (GRCm38)	G191D	probably damaging	Het
Slc22a22	G	T	15: 57,259,151 (GRCm38)	F143L	probably benign	Het
Slc22a28	C	T	19: 8,071,011 (GRCm38)	V424I	probably benign	Het
Slc7a11	T	G	3: 50,438,875 (GRCm38)	K106N	probably damaging	Het
Smgc	A	T	15: 91,844,420 (GRCm38)	D121V	probably damaging	Het
Sphk1	C	T	11: 116,536,366 (GRCm38)		probably benign	Het
Spock3	A	T	8: 63,144,006 (GRCm38)	T118S	probably benign	Het
Stk17b	G	T	1: 53,771,784 (GRCm38)	S54*	probably null	Het
Sycp2	A	G	2: 178,381,918 (GRCm38)	I435T	probably benign	Het
Tm2d3	G	T	7: 65,701,618 (GRCm38)	D207Y	probably damaging	Het
Top2b	A	T	14: 16,387,280 (GRCm38)	N123Y	probably damaging	Het
Unc80	A	G	1: 66,638,043 (GRCm38)	T2044A	possibly damaging	Het
Usp6nl	A	G	2: 6,440,432 (GRCm38)	S407G	probably benign	Het
Vmn1r195	G	A	13: 22,278,389 (GRCm38)	V10I	probably benign	Het
Zfp292	C	T	4: 34,811,703 (GRCm38)	R447H	probably damaging	Het

Other mutations in Gabrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Gabrb1	APN	5	72,108,446 (GRCm38)	critical splice donor site	probably null
IGL00774:Gabrb1	APN	5	72,108,446 (GRCm38)	critical splice donor site	probably null
IGL01534:Gabrb1	APN	5	71,869,429 (GRCm38)	missense	possibly damaging	0.95
IGL02170:Gabrb1	APN	5	72,136,730 (GRCm38)	missense	probably damaging	1.00
IGL02326:Gabrb1	APN	5	71,700,847 (GRCm38)	missense	probably damaging	0.99
IGL03278:Gabrb1	APN	5	71,869,596 (GRCm38)	missense	probably damaging	1.00
IGL03345:Gabrb1	APN	5	72,136,565 (GRCm38)	missense	possibly damaging	0.53
IGL03050:Gabrb1	UTSW	5	72,122,154 (GRCm38)	missense	probably benign	0.03
PIT4445001:Gabrb1	UTSW	5	72,108,782 (GRCm38)	missense	probably damaging	1.00
PIT4515001:Gabrb1	UTSW	5	71,700,817 (GRCm38)	missense	probably damaging	1.00
R0109:Gabrb1	UTSW	5	72,121,946 (GRCm38)	splice site	probably benign
R0386:Gabrb1	UTSW	5	72,108,807 (GRCm38)	missense	probably damaging	0.99
R1512:Gabrb1	UTSW	5	72,108,705 (GRCm38)	missense	probably damaging	1.00
R1512:Gabrb1	UTSW	5	72,108,704 (GRCm38)	missense	probably damaging	1.00
R1717:Gabrb1	UTSW	5	72,108,351 (GRCm38)	splice site	probably null
R1832:Gabrb1	UTSW	5	72,121,938 (GRCm38)	splice site	probably null
R1961:Gabrb1	UTSW	5	71,700,336 (GRCm38)	missense	probably benign	0.28
R2363:Gabrb1	UTSW	5	71,869,573 (GRCm38)	nonsense	probably null
R4686:Gabrb1	UTSW	5	71,700,022 (GRCm38)	missense	possibly damaging	0.53
R4840:Gabrb1	UTSW	5	71,700,811 (GRCm38)	missense	probably damaging	1.00
R4916:Gabrb1	UTSW	5	71,869,421 (GRCm38)	missense	probably damaging	1.00
R4941:Gabrb1	UTSW	5	72,136,778 (GRCm38)	missense	probably damaging	1.00
R5250:Gabrb1	UTSW	5	71,869,579 (GRCm38)	missense	possibly damaging	0.80
R5270:Gabrb1	UTSW	5	72,108,326 (GRCm38)	missense	probably damaging	1.00
R5364:Gabrb1	UTSW	5	72,136,762 (GRCm38)	missense	probably benign	0.33
R5407:Gabrb1	UTSW	5	72,122,021 (GRCm38)	missense	possibly damaging	0.90
R5790:Gabrb1	UTSW	5	72,136,484 (GRCm38)	missense	possibly damaging	0.53
R6236:Gabrb1	UTSW	5	72,108,320 (GRCm38)	missense	probably damaging	1.00
R6336:Gabrb1	UTSW	5	72,029,898 (GRCm38)	missense	possibly damaging	0.72
R7411:Gabrb1	UTSW	5	72,122,195 (GRCm38)	critical splice donor site	probably null
R8375:Gabrb1	UTSW	5	72,029,829 (GRCm38)	missense	probably damaging	0.98
R9161:Gabrb1	UTSW	5	72,029,856 (GRCm38)	missense	probably damaging	0.98
R9474:Gabrb1	UTSW	5	72,108,347 (GRCm38)	missense	probably damaging	1.00
R9621:Gabrb1	UTSW	5	72,122,020 (GRCm38)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AACTTGTGCGTTGTGAAAGAG -3'
(R):5'- TTAAGCGTCCCATTGCAGCC -3'

Sequencing Primer
(F):5'- CTTGTGCGTTGTGAAAGAGAGATAG -3'
(R):5'- GCGTCCCATTGCAGCCTAATTC -3'

Posted On

2016-11-08