Mutagenetix > Incidental Mutation

Incidental Mutation 'R7653:Gabrb2'

580488

Institutional Source

Beutler Lab

Gene Symbol

Gabrb2

Ensembl Gene

ENSMUSG00000007653

Gene Name

gamma-aminobutyric acid type A receptor subunit beta 2

Synonyms

C030021G16Rik, Gabrb-2, C030002O17Rik

MMRRC Submission

045730-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.473) question?

Stock #

R7653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42310584-42519855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 42378039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 85 (M85R)

Ref Sequence

ENSEMBL: ENSMUSP00000141868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007797] [ENSMUST00000192403]

AlphaFold

P63137

Predicted Effect

probably damaging
Transcript: ENSMUST00000007797
AA Change: M85R

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

SMART Domains

Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: M85R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Neur_chan_LBD	36	242	8.7e-52	PFAM
Pfam:Neur_chan_memb	249	469	7.5e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192403
AA Change: M85R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: M85R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Neur_chan_LBD	36	242	1.1e-54	PFAM
Pfam:Neur_chan_memb	249	507	6.6e-55	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show hyperactivity and abnormal GABA-mediated receptor currents. Homozygotes for a derivative of this allele show a sexually dimorphic cochlear phenotype associated with OHC dysfunction. Homozygotes for a knock-in allele show altered behavioral response to etomidate. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(1)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	T	6: 92,805,050 (GRCm39)	Q70L	unknown	Het
Adamts12	T	A	15: 11,257,115 (GRCm39)	N489K	probably benign	Het
Alms1	A	G	6: 85,597,577 (GRCm39)	D801G	possibly damaging	Het
Apex1	T	G	14: 51,163,995 (GRCm39)	N173K	probably damaging	Het
Arhgap32	A	T	9: 32,168,441 (GRCm39)	N808I	probably benign	Het
Arhgef28	T	C	13: 98,105,821 (GRCm39)	Y706C	probably benign	Het
Atg2b	A	T	12: 105,602,731 (GRCm39)	F1604Y	possibly damaging	Het
Atm	A	T	9: 53,401,602 (GRCm39)	Y1422*	probably null	Het
Bace2	T	A	16: 97,237,852 (GRCm39)	V38E		Het
Birc6	C	A	17: 74,954,729 (GRCm39)	L3442I	possibly damaging	Het
C6	T	A	15: 4,844,244 (GRCm39)	S889T		Het
Calcrl	A	T	2: 84,175,529 (GRCm39)	L275*	probably null	Het
Casp6	T	C	3: 129,705,872 (GRCm39)	Y180H	probably benign	Het
Cd5	T	C	19: 10,703,910 (GRCm39)	M51V	probably benign	Het
Cdhr1	G	T	14: 36,804,158 (GRCm39)	P500Q	probably benign	Het
Celsr3	G	A	9: 108,712,269 (GRCm39)	W1732*	probably null	Het
Ces2g	T	C	8: 105,689,285 (GRCm39)	V87A	probably damaging	Het
Chil6	T	C	3: 106,301,641 (GRCm39)	N153S	possibly damaging	Het
Chrna5	A	T	9: 54,909,718 (GRCm39)	D113V	probably benign	Het
Cimip2b	T	G	4: 43,427,273 (GRCm39)		probably null	Het
Cox20	A	G	1: 178,150,164 (GRCm39)	T113A	probably benign	Het
Cryl1	T	C	14: 57,541,148 (GRCm39)	I179V	probably benign	Het
Dennd3	A	G	15: 73,434,275 (GRCm39)	T982A	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Dync2h1	A	G	9: 7,117,570 (GRCm39)	S2240P	probably benign	Het
Eif1ad14	T	A	12: 87,886,248 (GRCm39)	D127V	unknown	Het
Fbxl5	C	T	5: 43,916,116 (GRCm39)	S432N	probably benign	Het
Fez1	T	A	9: 36,772,146 (GRCm39)	S150R	probably benign	Het
Lhx4	A	G	1: 155,580,617 (GRCm39)	V203A	probably damaging	Het
Med23	G	A	10: 24,780,282 (GRCm39)	D977N	probably damaging	Het
Mplkip	T	C	13: 17,870,367 (GRCm39)	F100L	probably damaging	Het
Ncoa7	C	T	10: 30,570,239 (GRCm39)	G240E	probably damaging	Het
Nedd4	A	G	9: 72,650,910 (GRCm39)	E827G	probably damaging	Het
Nfatc2	A	G	2: 168,413,065 (GRCm39)	F207L	probably benign	Het
Nr2f1	A	T	13: 78,343,716 (GRCm39)	S183T	probably benign	Het
Ocel1	A	G	8: 71,824,560 (GRCm39)	E81G	probably benign	Het
Or10aa3	T	C	1: 173,878,488 (GRCm39)	V183A	probably benign	Het
Or10g3b	C	A	14: 52,586,889 (GRCm39)	G205*	probably null	Het
Or4n4b	C	T	14: 50,536,604 (GRCm39)	G54E	possibly damaging	Het
Pcdh8	G	A	14: 80,005,086 (GRCm39)	P980S	probably benign	Het
Pex26	A	T	6: 121,170,510 (GRCm39)	Q285L	possibly damaging	Het
Pgap6	T	A	17: 26,339,423 (GRCm39)	M579K	probably damaging	Het
Plce1	A	T	19: 38,737,763 (GRCm39)	N1603I	probably benign	Het
Poli	A	T	18: 70,642,698 (GRCm39)	C501S	probably benign	Het
Ppp4r4	C	T	12: 103,550,404 (GRCm39)	T276I	probably damaging	Het
Rbpj	T	A	5: 53,747,693 (GRCm39)	M1K	probably null	Het
Recql4	T	A	15: 76,587,982 (GRCm39)	M1204L	probably benign	Het
Ribc2	T	C	15: 85,025,876 (GRCm39)	I284T	probably benign	Het
Rreb1	C	A	13: 38,114,362 (GRCm39)	Q574K	probably benign	Het
Scn9a	A	T	2: 66,357,424 (GRCm39)	L959Q	probably damaging	Het
Shank1	C	A	7: 43,969,093 (GRCm39)	H329Q	unknown	Het
Soat2	A	T	15: 102,071,013 (GRCm39)	D469V	probably damaging	Het
Spag7	T	A	11: 70,555,691 (GRCm39)	H82L	probably damaging	Het
Sptb	T	C	12: 76,675,271 (GRCm39)	I248V	probably benign	Het
Tacr3	A	G	3: 134,566,843 (GRCm39)	I239V	probably benign	Het
Tbc1d1	T	C	5: 64,414,133 (GRCm39)	F165L	probably benign	Het
Tchhl1	A	G	3: 93,378,451 (GRCm39)	E385G	probably benign	Het
Tecta	C	T	9: 42,248,532 (GRCm39)	D1957N	probably damaging	Het
Tenm2	T	C	11: 35,938,174 (GRCm39)	I1501V	probably benign	Het
Tet2	G	T	3: 133,192,146 (GRCm39)	Q763K	probably benign	Het
Timd6	A	C	11: 46,475,200 (GRCm39)	S132R	probably benign	Het
Tox3	G	A	8: 90,975,617 (GRCm39)	T338I	probably damaging	Het
Usp30	G	A	5: 114,259,730 (GRCm39)	D479N	probably damaging	Het
Vmn1r27	T	C	6: 58,192,785 (GRCm39)	D73G	possibly damaging	Het
Vmn1r27	A	T	6: 58,192,879 (GRCm39)	S42T	probably benign	Het
Vmn2r120	A	T	17: 57,816,258 (GRCm39)	V699D	possibly damaging	Het
Vwa2	A	T	19: 56,897,767 (GRCm39)	T691S	probably benign	Het
Wdr31	T	A	4: 62,381,666 (GRCm39)	Q55L	probably benign	Het
Xdh	A	G	17: 74,204,040 (GRCm39)	F1107L	probably benign	Het
Zfp184	A	G	13: 22,143,887 (GRCm39)	H531R	probably damaging	Het
Zfp366	T	C	13: 99,365,709 (GRCm39)	L290P	probably damaging	Het

Other mutations in Gabrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02275:Gabrb2	APN	11	42,482,721 (GRCm39)	missense	probably benign	0.00
IGL02666:Gabrb2	APN	11	42,420,322 (GRCm39)	critical splice donor site	probably null
IGL02983:Gabrb2	APN	11	42,312,227 (GRCm39)	missense	probably benign	0.00
IGL03357:Gabrb2	APN	11	42,482,771 (GRCm39)	missense	probably damaging	1.00
H2330:Gabrb2	UTSW	11	42,312,258 (GRCm39)	splice site	probably benign
R0049:Gabrb2	UTSW	11	42,484,674 (GRCm39)	missense	probably damaging	1.00
R0049:Gabrb2	UTSW	11	42,484,674 (GRCm39)	missense	probably damaging	1.00
R0100:Gabrb2	UTSW	11	42,378,141 (GRCm39)	missense	probably damaging	1.00
R1423:Gabrb2	UTSW	11	42,420,298 (GRCm39)	missense	probably damaging	1.00
R1526:Gabrb2	UTSW	11	42,482,715 (GRCm39)	missense	possibly damaging	0.83
R1856:Gabrb2	UTSW	11	42,517,540 (GRCm39)	missense	probably benign	0.01
R1898:Gabrb2	UTSW	11	42,484,659 (GRCm39)	missense	possibly damaging	0.51
R2184:Gabrb2	UTSW	11	42,312,255 (GRCm39)	critical splice donor site	probably null
R2371:Gabrb2	UTSW	11	42,482,691 (GRCm39)	missense	probably damaging	1.00
R2915:Gabrb2	UTSW	11	42,482,734 (GRCm39)	missense	probably benign
R2993:Gabrb2	UTSW	11	42,488,476 (GRCm39)	missense	probably damaging	0.99
R3951:Gabrb2	UTSW	11	42,517,708 (GRCm39)	missense	probably damaging	1.00
R4167:Gabrb2	UTSW	11	42,312,155 (GRCm39)	unclassified	probably benign
R4168:Gabrb2	UTSW	11	42,312,155 (GRCm39)	unclassified	probably benign
R4497:Gabrb2	UTSW	11	42,488,521 (GRCm39)	missense	probably benign	0.05
R4572:Gabrb2	UTSW	11	42,484,744 (GRCm39)	missense	possibly damaging	0.46
R4784:Gabrb2	UTSW	11	42,488,469 (GRCm39)	missense	probably damaging	1.00
R4792:Gabrb2	UTSW	11	42,420,330 (GRCm39)	splice site	probably benign
R5345:Gabrb2	UTSW	11	42,517,636 (GRCm39)	missense	possibly damaging	0.54
R5346:Gabrb2	UTSW	11	42,312,216 (GRCm39)	missense	probably benign
R5575:Gabrb2	UTSW	11	42,420,365 (GRCm39)	intron	probably benign
R5701:Gabrb2	UTSW	11	42,378,201 (GRCm39)	missense	probably damaging	1.00
R5801:Gabrb2	UTSW	11	42,312,216 (GRCm39)	missense	probably benign	0.00
R5965:Gabrb2	UTSW	11	42,517,696 (GRCm39)	missense	probably damaging	1.00
R6738:Gabrb2	UTSW	11	42,484,758 (GRCm39)	missense	possibly damaging	0.95
R6930:Gabrb2	UTSW	11	42,488,440 (GRCm39)	missense	probably damaging	1.00
R7011:Gabrb2	UTSW	11	42,517,488 (GRCm39)	missense	possibly damaging	0.76
R7045:Gabrb2	UTSW	11	42,484,758 (GRCm39)	missense	probably damaging	1.00
R7615:Gabrb2	UTSW	11	42,517,569 (GRCm39)	missense	probably benign	0.06
R7866:Gabrb2	UTSW	11	42,378,050 (GRCm39)	nonsense	probably null
R8094:Gabrb2	UTSW	11	42,488,370 (GRCm39)	missense	probably damaging	0.98
R8402:Gabrb2	UTSW	11	42,378,131 (GRCm39)	missense	probably damaging	1.00
R8488:Gabrb2	UTSW	11	42,517,491 (GRCm39)	missense	possibly damaging	0.85
R8851:Gabrb2	UTSW	11	42,312,186 (GRCm39)	missense	probably benign
R9123:Gabrb2	UTSW	11	42,482,693 (GRCm39)	missense	probably damaging	0.97
R9125:Gabrb2	UTSW	11	42,482,693 (GRCm39)	missense	probably damaging	0.97
R9186:Gabrb2	UTSW	11	42,378,200 (GRCm39)	missense	possibly damaging	0.51
R9672:Gabrb2	UTSW	11	42,312,207 (GRCm39)	missense	probably benign	0.00
R9746:Gabrb2	UTSW	11	42,517,436 (GRCm39)	missense	probably benign	0.00
RF008:Gabrb2	UTSW	11	42,517,705 (GRCm39)	missense	probably damaging	1.00
X0020:Gabrb2	UTSW	11	42,313,473 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TACTGAGAAAACCAAGTGCCTATC -3'
(R):5'- TCGGGATGCAATCGAATCATAC -3'

Sequencing Primer
(F):5'- TGCATTCTTCTTTGTAAAACAACAG -3'
(R):5'- CGAATCATACGGTTTTTGACAGTCAC -3'

Posted On

2019-10-07