Mutagenetix > Incidental Mutation

Incidental Mutation 'R0386:Gabrb1'

31281

Institutional Source

Beutler Lab

Gene Symbol

Gabrb1

Ensembl Gene

ENSMUSG00000029212

Gene Name

gamma-aminobutyric acid type A receptor subunit beta 1

Synonyms

Gabrb-1, B230208N19Rik

MMRRC Submission

038592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0386 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

71815456-72306380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72266150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 269 (Y269F)

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: Y269F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: Y269F

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 benign
Transcript: ENSMUST00000199967

SMART Domains

Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212

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

Meta Mutation Damage Score

0.6529

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,044,308 (GRCm39)	V194A	probably damaging	Het
Adamts13	G	A	2: 26,876,691 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,988,508 (GRCm39)	M3264T	possibly damaging	Het
Birc6	T	A	17: 74,906,335 (GRCm39)	C1409S	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Dnah2	A	G	11: 69,338,687 (GRCm39)	V3161A	probably damaging	Het
Dnah5	A	T	15: 28,383,727 (GRCm39)	Y2983F	probably damaging	Het
Dnah6	G	A	6: 73,060,107 (GRCm39)	L2774F	probably damaging	Het
Dst	A	T	1: 34,256,917 (GRCm39)	T4398S	probably damaging	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Efcab5	A	T	11: 77,063,204 (GRCm39)	M96K	probably benign	Het
Elavl4	A	G	4: 110,063,902 (GRCm39)		probably benign	Het
Flt4	G	A	11: 49,535,213 (GRCm39)	A1214T	probably benign	Het
Fn1	G	T	1: 71,634,945 (GRCm39)	T2127N	probably damaging	Het
Foxj1	A	T	11: 116,222,629 (GRCm39)	S391R	possibly damaging	Het
Ghitm	A	G	14: 36,847,868 (GRCm39)	S259P	possibly damaging	Het
Gm16332	A	G	1: 139,851,928 (GRCm39)		noncoding transcript	Het
Gm16380	T	A	9: 53,791,727 (GRCm39)		noncoding transcript	Het
Gm9869	A	T	9: 60,745,344 (GRCm39)		probably benign	Het
Gm9936	G	A	5: 114,995,192 (GRCm39)	Q142*	probably null	Het
Hmbs	T	C	9: 44,248,305 (GRCm39)	Y260C	probably benign	Het
Hoxc5	T	A	15: 102,923,784 (GRCm39)	C193*	probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Lce1j	T	C	3: 92,696,695 (GRCm39)	K28E	unknown	Het
Lpgat1	C	T	1: 191,451,460 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,882,799 (GRCm39)		probably benign	Het
Megf11	A	G	9: 64,547,360 (GRCm39)	N235D	probably damaging	Het
Mst1r	T	A	9: 107,794,003 (GRCm39)		probably null	Het
Nr2c2ap	A	G	8: 70,584,237 (GRCm39)	D9G	probably benign	Het
Obscn	T	C	11: 59,027,165 (GRCm39)	T13A	probably damaging	Het
Ofcc1	A	C	13: 40,367,950 (GRCm39)	L188*	probably null	Het
Oma1	A	T	4: 103,182,398 (GRCm39)		probably benign	Het
Or10aa3	A	T	1: 173,877,965 (GRCm39)	T9S	probably benign	Het
Or5m11	A	G	2: 85,782,217 (GRCm39)	E270G	probably damaging	Het
Pcm1	T	C	8: 41,769,060 (GRCm39)	F1642S	probably damaging	Het
Pglyrp2	A	G	17: 32,639,836 (GRCm39)	M1T	probably null	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm10	C	A	9: 31,227,596 (GRCm39)	T67K	probably damaging	Het
Ralgapa1	A	T	12: 55,754,852 (GRCm39)	H1193Q	probably benign	Het
Sall1	A	G	8: 89,759,232 (GRCm39)	S291P	probably damaging	Het
Sdk2	T	C	11: 113,784,290 (GRCm39)	T150A	probably damaging	Het
Sel1l2	T	A	2: 140,117,361 (GRCm39)	Y170F	probably benign	Het
Sema4a	C	T	3: 88,344,107 (GRCm39)	V715I	possibly damaging	Het
Smgc	G	A	15: 91,738,841 (GRCm39)	A500T	probably benign	Het
Spef2	A	G	15: 9,584,148 (GRCm39)	V1639A	probably damaging	Het
Srrm4	A	G	5: 116,620,437 (GRCm39)		probably benign	Het
Tbc1d23	G	A	16: 57,009,636 (GRCm39)	H418Y	probably damaging	Het
Tbk1	A	G	10: 121,420,159 (GRCm39)	L10P	probably damaging	Het
Thumpd3	G	A	6: 113,042,621 (GRCm39)		probably null	Het
Trp53bp1	G	T	2: 121,035,424 (GRCm39)	T1609K	probably damaging	Het
Tut1	A	G	19: 8,932,919 (GRCm39)	N84S	probably benign	Het
Urb1	C	T	16: 90,593,287 (GRCm39)	G282R	probably damaging	Het
Usp19	A	T	9: 108,376,910 (GRCm39)	D1160V	probably damaging	Het
Usp9y	A	G	Y: 1,316,933 (GRCm39)	V1872A	probably damaging	Het
Zfp276	C	A	8: 123,986,242 (GRCm39)	Y386*	probably null	Het

Other mutations in Gabrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Gabrb1	APN	5	72,265,789 (GRCm39)	critical splice donor site	probably null
IGL00774:Gabrb1	APN	5	72,265,789 (GRCm39)	critical splice donor site	probably null
IGL01534:Gabrb1	APN	5	72,026,772 (GRCm39)	missense	possibly damaging	0.95
IGL02170:Gabrb1	APN	5	72,294,073 (GRCm39)	missense	probably damaging	1.00
IGL02326:Gabrb1	APN	5	71,858,190 (GRCm39)	missense	probably damaging	0.99
IGL03278:Gabrb1	APN	5	72,026,939 (GRCm39)	missense	probably damaging	1.00
IGL03345:Gabrb1	APN	5	72,293,908 (GRCm39)	missense	possibly damaging	0.53
IGL03050:Gabrb1	UTSW	5	72,279,497 (GRCm39)	missense	probably benign	0.03
PIT4445001:Gabrb1	UTSW	5	72,266,125 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Gabrb1	UTSW	5	71,858,160 (GRCm39)	missense	probably damaging	1.00
R0109:Gabrb1	UTSW	5	72,279,289 (GRCm39)	splice site	probably benign
R1512:Gabrb1	UTSW	5	72,266,048 (GRCm39)	missense	probably damaging	1.00
R1512:Gabrb1	UTSW	5	72,266,047 (GRCm39)	missense	probably damaging	1.00
R1717:Gabrb1	UTSW	5	72,265,694 (GRCm39)	splice site	probably null
R1832:Gabrb1	UTSW	5	72,279,281 (GRCm39)	splice site	probably null
R1961:Gabrb1	UTSW	5	71,857,679 (GRCm39)	missense	probably benign	0.28
R2363:Gabrb1	UTSW	5	72,026,916 (GRCm39)	nonsense	probably null
R4686:Gabrb1	UTSW	5	71,857,365 (GRCm39)	missense	possibly damaging	0.53
R4840:Gabrb1	UTSW	5	71,858,154 (GRCm39)	missense	probably damaging	1.00
R4916:Gabrb1	UTSW	5	72,026,764 (GRCm39)	missense	probably damaging	1.00
R4941:Gabrb1	UTSW	5	72,294,121 (GRCm39)	missense	probably damaging	1.00
R5250:Gabrb1	UTSW	5	72,026,922 (GRCm39)	missense	possibly damaging	0.80
R5270:Gabrb1	UTSW	5	72,265,669 (GRCm39)	missense	probably damaging	1.00
R5364:Gabrb1	UTSW	5	72,294,105 (GRCm39)	missense	probably benign	0.33
R5407:Gabrb1	UTSW	5	72,279,364 (GRCm39)	missense	possibly damaging	0.90
R5621:Gabrb1	UTSW	5	72,266,071 (GRCm39)	missense	probably damaging	1.00
R5790:Gabrb1	UTSW	5	72,293,827 (GRCm39)	missense	possibly damaging	0.53
R6236:Gabrb1	UTSW	5	72,265,663 (GRCm39)	missense	probably damaging	1.00
R6336:Gabrb1	UTSW	5	72,187,241 (GRCm39)	missense	possibly damaging	0.72
R7411:Gabrb1	UTSW	5	72,279,538 (GRCm39)	critical splice donor site	probably null
R8375:Gabrb1	UTSW	5	72,187,172 (GRCm39)	missense	probably damaging	0.98
R9161:Gabrb1	UTSW	5	72,187,199 (GRCm39)	missense	probably damaging	0.98
R9474:Gabrb1	UTSW	5	72,265,690 (GRCm39)	missense	probably damaging	1.00
R9621:Gabrb1	UTSW	5	72,279,363 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGTCCAAGAAGGTGGAGTTCACAAC -3'
(R):5'- AGTGTTTCCACAGTCAAAAGCAGGG -3'

Sequencing Primer
(F):5'- ctctctctctccctctccc -3'
(R):5'- CACTCATACGATGGGAAACATATTC -3'

Posted On

2013-04-24