Mutagenetix > Incidental Mutation

Incidental Mutation 'R6236:Gabrb1'

504938

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

044400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71815456-72306380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72265663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 186 (T186M)

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: T186M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: T186M

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
AA Change: T153M

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212
AA Change: T153M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (57/57)

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
Acap3	A	G	4: 155,989,664 (GRCm39)	T703A	possibly damaging	Het
Acd	C	T	8: 106,427,127 (GRCm39)	A49T	probably benign	Het
Acer1	T	A	17: 57,262,231 (GRCm39)	I224F	probably benign	Het
Acvr1	T	C	2: 58,367,678 (GRCm39)	D161G	probably benign	Het
Catsper4	T	C	4: 133,948,887 (GRCm39)	I111V	probably benign	Het
Cfap210	A	C	2: 69,588,385 (GRCm39)		probably null	Het
Chst14	T	A	2: 118,757,997 (GRCm39)	C264S	probably damaging	Het
Clnk	T	C	5: 38,870,542 (GRCm39)	T339A	probably benign	Het
Cnot4	T	C	6: 35,045,608 (GRCm39)	K201R	probably benign	Het
Col19a1	A	G	1: 24,319,030 (GRCm39)	V1020A	probably damaging	Het
Cts6	C	A	13: 61,344,192 (GRCm39)	E287*	probably null	Het
Dbf4	T	C	5: 8,448,579 (GRCm39)		probably benign	Het
Diaph3	G	A	14: 87,275,004 (GRCm39)	R140*	probably null	Het
Faah	T	C	4: 115,856,786 (GRCm39)	I459V	probably benign	Het
Fbxw2	A	T	2: 34,712,845 (GRCm39)	L72H	probably damaging	Het
Fstl4	G	A	11: 53,077,162 (GRCm39)	G640S	probably benign	Het
Gata2	T	C	6: 88,179,548 (GRCm39)		probably null	Het
Ifi203	A	G	1: 173,761,479 (GRCm39)	V190A	probably benign	Het
Kdm3a	T	C	6: 71,588,641 (GRCm39)	E456G	probably benign	Het
Kl	A	T	5: 150,876,755 (GRCm39)	T192S	probably damaging	Het
Klhl3	G	A	13: 58,232,876 (GRCm39)	A77V	probably damaging	Het
Klri2	A	G	6: 129,715,858 (GRCm39)	F114L	probably benign	Het
Lonp2	A	T	8: 87,363,215 (GRCm39)	R278*	probably null	Het
Lrp5	A	T	19: 3,680,483 (GRCm39)		probably null	Het
Med13	T	A	11: 86,219,357 (GRCm39)	H363L	probably damaging	Het
Metap1d	T	G	2: 71,346,022 (GRCm39)	F194L	probably benign	Het
Misp	A	G	10: 79,662,956 (GRCm39)	K458E	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myh2	A	G	11: 67,081,157 (GRCm39)	T1258A	probably benign	Het
Nipbl	T	A	15: 8,354,064 (GRCm39)	D1691V	possibly damaging	Het
Nr1i2	C	T	16: 38,086,300 (GRCm39)	C55Y	probably damaging	Het
Or11h7	T	C	14: 50,891,257 (GRCm39)	S188P	probably damaging	Het
Or7g21	A	T	9: 19,032,409 (GRCm39)	I50F	possibly damaging	Het
Pcdhgb4	T	C	18: 37,854,345 (GRCm39)	Y247H	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Ric1	T	A	19: 29,572,826 (GRCm39)	D755E	possibly damaging	Het
Sez6l	G	T	5: 112,623,110 (GRCm39)	T147K	possibly damaging	Het
Ski	A	G	4: 155,244,001 (GRCm39)	F451S	probably benign	Het
Slc45a2	C	T	15: 11,022,158 (GRCm39)	T300I	probably benign	Het
Smarca2	T	C	19: 26,673,613 (GRCm39)	V1050A	probably benign	Het
Spag1	T	C	15: 36,211,281 (GRCm39)	S476P	probably damaging	Het
Sptbn2	T	A	19: 4,798,166 (GRCm39)	S1964T	probably benign	Het
Sucla2	T	A	14: 73,831,190 (GRCm39)	D434E	probably benign	Het
Tbl3	G	A	17: 24,919,717 (GRCm39)	T779I	probably benign	Het
Tlr2	T	A	3: 83,745,438 (GRCm39)	E215V	probably benign	Het
Tomm40	G	A	7: 19,437,281 (GRCm39)	P227S	probably benign	Het
Tpp2	T	A	1: 44,016,477 (GRCm39)	S711T	probably benign	Het
Traj32	T	A	14: 54,423,565 (GRCm39)	Y2*	probably null	Het
Trim34b	A	G	7: 103,985,525 (GRCm39)	R387G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Usp5	T	C	6: 124,795,441 (GRCm39)	T651A	probably benign	Het
Vmn1r188	T	C	13: 22,272,414 (GRCm39)	S123P	probably damaging	Het
Zdhhc14	T	C	17: 5,543,918 (GRCm39)	L66P	probably damaging	Het
Zfp712	C	T	13: 67,188,685 (GRCm39)	C614Y	probably damaging	Het
Zfp827	A	G	8: 79,797,105 (GRCm39)	K397R	probably damaging	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
R0386:Gabrb1	UTSW	5	72,266,150 (GRCm39)	missense	probably damaging	0.99
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
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'- GTTCCCTAAAGCCAGATGCATCG -3'
(R):5'- TCTCTCTTTCACAACGCACAAG -3'

Sequencing Primer
(F):5'- TCAATGCAGGCTCTCCTAAG -3'
(R):5'- TCACAACGCACAAGTTATTAGTGAGG -3'

Posted On

2018-02-28