Mutagenetix > Incidental Mutation

Incidental Mutation 'R5790:Gabrb1'

448258

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

043384-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71815456-72306380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72293827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 367 (I367T)

Ref Sequence

ENSEMBL: ENSMUSP00000031122 (fasta)

Gene Model

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

AlphaFold

P50571

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031122
AA Change: I367T

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: I367T

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

0.1956

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	A	T	5: 31,051,702 (GRCm39)	R633*	probably null	Het
Ahnak	T	C	19: 8,992,612 (GRCm39)	V4632A	probably damaging	Het
Asap1	T	A	15: 63,966,114 (GRCm39)	D997V	probably damaging	Het
Atad2	T	C	15: 57,989,990 (GRCm39)	Y162C	probably damaging	Het
Atp2b2	G	T	6: 113,736,270 (GRCm39)	S936R	probably damaging	Het
Bcl11a	T	A	11: 24,113,650 (GRCm39)	L331Q	probably damaging	Het
C6	T	A	15: 4,792,968 (GRCm39)	F358I	probably damaging	Het
Capn15	C	T	17: 26,183,521 (GRCm39)	S386N	probably benign	Het
Ccdc66	G	A	14: 27,222,404 (GRCm39)	T113I	possibly damaging	Het
Cd200	G	T	16: 45,217,621 (GRCm39)	H23Q	possibly damaging	Het
Cdh17	A	G	4: 11,814,945 (GRCm39)		probably null	Het
Ces2b	C	T	8: 105,560,568 (GRCm39)	P128S	probably damaging	Het
Ces3b	A	T	8: 105,819,270 (GRCm39)	Q442L	probably damaging	Het
Chil4	T	C	3: 106,109,894 (GRCm39)	H373R	probably benign	Het
Ciapin1	C	A	8: 95,551,811 (GRCm39)		probably benign	Het
Cnot10	A	C	9: 114,454,985 (GRCm39)		probably null	Het
Cpq	A	G	15: 33,250,143 (GRCm39)	K167E	probably damaging	Het
Dennd4b	T	A	3: 90,184,757 (GRCm39)	D1118E	probably damaging	Het
Dnah8	T	A	17: 31,093,978 (GRCm39)	C4691S	probably damaging	Het
Dnajc1	A	G	2: 18,311,898 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,304,981 (GRCm39)	R341H	probably damaging	Het
Dock10	G	T	1: 80,482,887 (GRCm39)	T2145K	probably benign	Het
Eif3b	T	C	5: 140,427,886 (GRCm39)	V736A	probably benign	Het
Eno1	G	T	4: 150,329,710 (GRCm39)	V195L	probably benign	Het
Ewsr1	C	T	11: 5,032,263 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,209,768 (GRCm39)	T1038A	probably benign	Het
Gigyf1	C	T	5: 137,522,517 (GRCm39)		probably benign	Het
Glp2r	T	A	11: 67,655,625 (GRCm39)	Y39F	probably damaging	Het
Gm10036	T	A	18: 15,966,243 (GRCm39)	Y131*	probably null	Het
Gm38706	T	C	6: 130,461,961 (GRCm39)		noncoding transcript	Het
Gna15	G	A	10: 81,345,218 (GRCm39)	R216C	probably damaging	Het
Grin3a	A	G	4: 49,792,717 (GRCm39)	F339L	probably damaging	Het
Grk3	T	G	5: 113,114,842 (GRCm39)	K126T	possibly damaging	Het
Hspa1l	T	C	17: 35,196,216 (GRCm39)	V85A	probably benign	Het
Iqsec1	A	T	6: 90,666,862 (GRCm39)	L525*	probably null	Het
Irx3	T	C	8: 92,526,304 (GRCm39)	T467A	probably benign	Het
Itga2	G	A	13: 115,004,742 (GRCm39)	T530I	probably benign	Het
Lonp2	T	C	8: 87,358,118 (GRCm39)	V113A	probably benign	Het
Msx3	C	T	7: 139,628,866 (GRCm39)	R16H	possibly damaging	Het
Nek3	C	A	8: 22,621,313 (GRCm39)	Q405H	probably damaging	Het
Nek3	T	A	8: 22,621,314 (GRCm39)	Q403L	probably damaging	Het
Or2b6	T	C	13: 21,823,046 (GRCm39)	T216A	probably benign	Het
Or6c66	A	G	10: 129,461,757 (GRCm39)	Y58H	probably damaging	Het
P4ha1	A	G	10: 59,190,184 (GRCm39)	N367S	probably benign	Het
Padi6	C	A	4: 140,459,569 (GRCm39)	G429C	probably damaging	Het
Pidd1	T	C	7: 141,021,305 (GRCm39)		probably benign	Het
Plekhg5	T	C	4: 152,198,392 (GRCm39)	V847A	probably benign	Het
Polr3e	A	G	7: 120,527,190 (GRCm39)	D56G	probably damaging	Het
Pomt2	T	G	12: 87,174,152 (GRCm39)	N347T	probably damaging	Het
Ppp1r9a	T	C	6: 5,134,363 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,296 (GRCm39)	D184V	probably damaging	Het
Rims2	A	T	15: 39,544,441 (GRCm39)	T1431S	probably damaging	Het
Saal1	T	C	7: 46,351,352 (GRCm39)	D208G	probably damaging	Het
Sis	T	C	3: 72,835,507 (GRCm39)	I952V	probably benign	Het
Slc30a1	T	A	1: 191,640,997 (GRCm39)	D214E	probably benign	Het
Slc30a8	T	C	15: 52,197,043 (GRCm39)	V318A	possibly damaging	Het
Smarca2	A	G	19: 26,654,124 (GRCm39)	T770A	probably damaging	Het
Sptbn4	T	A	7: 27,065,853 (GRCm39)	H2031L	probably damaging	Het
Ssbp1	A	G	6: 40,457,804 (GRCm39)	S141G	probably benign	Het
Tgm4	A	G	9: 122,890,808 (GRCm39)	E45G	probably damaging	Het
Thra	T	A	11: 98,653,777 (GRCm39)	S203T	probably benign	Het
Tle2	T	C	10: 81,426,149 (GRCm39)	Y763H	probably damaging	Het
Tmem141	T	A	2: 25,511,087 (GRCm39)	I102L	probably benign	Het
Tmem63c	C	T	12: 87,104,410 (GRCm39)	T77I	probably benign	Het
Tspo2	C	A	17: 48,756,047 (GRCm39)		probably null	Het
Ttc19	T	A	11: 62,172,340 (GRCm39)	M1K	probably null	Het
Ucp1	A	G	8: 84,024,520 (GRCm39)	N282D	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,198 (GRCm39)	F119I	probably benign	Het
Vmn2r24	A	T	6: 123,792,499 (GRCm39)	M609L	probably benign	Het
Vwc2l	A	T	1: 70,790,142 (GRCm39)	H146L	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
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'- GGCTGATTGTTGATAGGCAAATAAG -3'
(R):5'- GGGGATCTTCACTTTGAGCTGC -3'

Sequencing Primer
(F):5'- GTAGACGGTAAATAGATTATTGCTGG -3'
(R):5'- CTTCACTTTGAGCTGCGAGGC -3'

Posted On

2016-12-15