Mutagenetix > Incidental Mutation

Incidental Mutation 'R4941:Gabrb1'

383077

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

042539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71658113-72149037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72136778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 465 (N465S)

Ref Sequence

ENSEMBL: ENSMUSP00000031122 (fasta)

Gene Model

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

AlphaFold

P50571

Predicted Effect

probably damaging
Transcript: ENSMUST00000031122
AA Change: N465S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: N465S

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

Meta Mutation Damage Score

0.4487

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.0%

Validation Efficiency

97% (112/116)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	A	15: 83,228,328 (GRCm38)	I85F	probably damaging	Het
Abcc6	T	A	7: 46,012,523 (GRCm38)	I435F	probably benign	Het
Adam3	T	C	8: 24,677,316 (GRCm38)		probably benign	Het
Adrb3	T	C	8: 27,227,422 (GRCm38)	Y333C	probably damaging	Het
Ago4	A	T	4: 126,526,054 (GRCm38)	D43E	probably benign	Het
Agt	T	A	8: 124,556,988 (GRCm38)	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,531,601 (GRCm38)	D230E	probably damaging	Het
Aplf	A	T	6: 87,646,349 (GRCm38)	N249K	probably benign	Het
Aplf	A	G	6: 87,668,423 (GRCm38)	I33T	probably damaging	Het
Arap2	A	G	5: 62,749,478 (GRCm38)	M66T	probably benign	Het
Atf4	T	C	15: 80,256,233 (GRCm38)		probably benign	Het
Bahcc1	A	C	11: 120,286,665 (GRCm38)	H2068P	probably benign	Het
Bcor	C	T	X: 12,040,486 (GRCm38)	R1551Q	probably damaging	Het
Bltp1	A	C	3: 36,917,702 (GRCm38)	H528P	probably damaging	Het
Bltp1	G	A	3: 36,919,901 (GRCm38)	S600N	probably benign	Het
Catsper1	C	A	19: 5,341,438 (GRCm38)	A616D	possibly damaging	Het
Cdkn3	A	G	14: 46,769,863 (GRCm38)	D159G	possibly damaging	Het
Cep162	T	C	9: 87,225,969 (GRCm38)		probably benign	Het
Clca1	T	A	3: 145,015,653 (GRCm38)	I386L	probably damaging	Het
Cldn10	G	A	14: 118,788,313 (GRCm38)	G53S	possibly damaging	Het
Cmtm3	T	C	8: 104,343,828 (GRCm38)	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,152,925 (GRCm38)	L149R	probably benign	Het
Cope	T	C	8: 70,302,934 (GRCm38)		probably null	Het
Cpa6	T	A	1: 10,409,337 (GRCm38)	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,781,953 (GRCm38)		noncoding transcript	Het
Ddx55	T	A	5: 124,568,716 (GRCm38)	L592*	probably null	Het
Deup1	T	C	9: 15,588,027 (GRCm38)	M333V	probably benign	Het
Eif4a1	T	C	11: 69,667,814 (GRCm38)		probably benign	Het
Eif4g3	A	C	4: 138,170,565 (GRCm38)	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,051,199 (GRCm38)	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,160,767 (GRCm38)		probably benign	Het
Fam227a	C	A	15: 79,640,003 (GRCm38)		probably null	Het
Fat1	A	G	8: 45,036,275 (GRCm38)	I3505V	probably benign	Het
Fat3	T	G	9: 16,375,152 (GRCm38)	E1025A	probably damaging	Het
Fat4	C	T	3: 38,957,452 (GRCm38)	R2234W	probably damaging	Het
Fer1l4	G	T	2: 156,045,089 (GRCm38)	F634L	probably damaging	Het
Fetub	G	A	16: 22,937,874 (GRCm38)	V162I	probably benign	Het
Fgd4	T	C	16: 16,484,538 (GRCm38)	Q51R	probably benign	Het
Fgfr2	T	C	7: 130,198,445 (GRCm38)	H140R	probably benign	Het
Flt3	T	A	5: 147,356,375 (GRCm38)		probably null	Het
Gapdhs	T	C	7: 30,733,266 (GRCm38)	I206V	probably benign	Het
Gkn3	C	T	6: 87,383,525 (GRCm38)	A163T	probably damaging	Het
Glp2r	T	C	11: 67,746,703 (GRCm38)		probably null	Het
Gm4956	T	A	1: 21,298,082 (GRCm38)		noncoding transcript	Het
Gtf2a1l	A	T	17: 88,714,922 (GRCm38)	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,619,063 (GRCm38)	W356R	probably damaging	Het
Idh2	A	T	7: 80,096,099 (GRCm38)	V335D	probably damaging	Het
Isyna1	T	C	8: 70,595,496 (GRCm38)	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,331,087 (GRCm38)	S320P	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,648,032 (GRCm38)	F524S	probably damaging	Het
Lap3	A	T	5: 45,506,197 (GRCm38)	M338L	probably benign	Het
Lins1	T	C	7: 66,709,450 (GRCm38)		probably benign	Het
Llgl1	C	T	11: 60,709,568 (GRCm38)	P581L	probably benign	Het
Lrrc43	A	G	5: 123,501,063 (GRCm38)	D385G	probably benign	Het
Maf	T	C	8: 115,706,793 (GRCm38)	D24G	unknown	Het
Nell1	T	C	7: 50,062,638 (GRCm38)	S69P	probably benign	Het
Nkapd1	G	T	9: 50,607,509 (GRCm38)	Q268K	probably benign	Het
Or13p4	C	T	4: 118,689,892 (GRCm38)	V187I	possibly damaging	Het
Or2h1	C	T	17: 37,093,592 (GRCm38)	G94E	probably damaging	Het
Or2j6	T	A	7: 140,400,879 (GRCm38)	M56L	probably benign	Het
Or51af1	T	C	7: 103,492,251 (GRCm38)	D209G	probably damaging	Het
Or5an10	A	G	19: 12,298,896 (GRCm38)	S79P	possibly damaging	Het
Or8g54	T	C	9: 39,795,864 (GRCm38)	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,457,036 (GRCm38)	T112A	probably benign	Het
Parp14	T	C	16: 35,846,033 (GRCm38)	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,412,834 (GRCm38)	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,356,006 (GRCm38)	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,662,606 (GRCm38)	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,738,132 (GRCm38)	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,119,886 (GRCm38)	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,151,565 (GRCm38)	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,997,264 (GRCm38)		probably null	Het
Pparg	T	A	6: 115,490,110 (GRCm38)	V478E	probably damaging	Het
Ppib	T	C	9: 66,060,390 (GRCm38)	V42A	probably benign	Het
Ppox	T	C	1: 171,277,593 (GRCm38)	M341V	probably damaging	Het
Proc	T	C	18: 32,125,113 (GRCm38)	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,392,765 (GRCm38)	P525L	probably damaging	Het
Rnf14	C	A	18: 38,308,382 (GRCm38)	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,912,008 (GRCm38)	P306L	probably damaging	Het
Sec14l5	A	G	16: 5,176,500 (GRCm38)	E386G	probably damaging	Het
Sftpa1	T	A	14: 41,132,552 (GRCm38)	I32N	probably damaging	Het
Slc26a5	A	G	5: 21,820,386 (GRCm38)	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467 (GRCm38)	Y438C	probably damaging	Het
Spire1	T	C	18: 67,519,314 (GRCm38)	E231G	possibly damaging	Het
Stab1	T	A	14: 31,151,571 (GRCm38)	I1014F	probably benign	Het
Steap2	T	C	5: 5,677,651 (GRCm38)	Y228C	probably damaging	Het
Tmem131l	T	C	3: 83,899,239 (GRCm38)	T1487A	probably benign	Het
Tmem171	A	G	13: 98,692,295 (GRCm38)	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520 (GRCm38)	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,822,289 (GRCm38)	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,643,078 (GRCm38)	R148C	probably benign	Het
Vmn2r116	A	G	17: 23,401,142 (GRCm38)	K617E	probably damaging	Het
Xrcc6	T	C	15: 82,039,812 (GRCm38)	L229P	probably damaging	Het
Yju2	A	G	17: 55,964,149 (GRCm38)	D97G	possibly damaging	Het
Zfp184	A	G	13: 21,949,721 (GRCm38)	D46G	probably damaging	Het
Zfp790	T	A	7: 29,829,491 (GRCm38)	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,536,837 (GRCm38)	N135I	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
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
R5621:Gabrb1	UTSW	5	72,108,728 (GRCm38)	missense	probably damaging	1.00
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'- CACCATGTACTCGTACGACAG -3'
(R):5'- CTTGGACCACAGTTGACAGG -3'

Sequencing Primer
(F):5'- TACTCGTACGACAGCGCCAG -3'
(R):5'- CAGGAAAATACCTTTTGTTGTTGCCG -3'

Posted On

2016-04-27