Mutagenetix > Incidental Mutation

Incidental Mutation 'RF008:Gabrb2'

603000

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

Accession Numbers

Essential gene?

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

Stock #

RF008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42310584-42519855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42517705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 509 (Y509C)

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: Y471C

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

SMART Domains

Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: Y471C

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: Y509C

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

SMART Domains

Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: Y509C

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

100% (45/45)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	CCACGACC	CCACGACCACGACC	16: 56,447,952 (GRCm39)		probably benign	Het
Acan	T	G	7: 78,742,148 (GRCm39)	V515G	possibly damaging	Het
Acap3	TGG	TGGACTGCTGCATCCAGG	4: 155,989,555 (GRCm39)		probably benign	Het
AI837181	G	GGCT	19: 5,475,266 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,977 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arid1b	GCG	GCGACG	17: 5,045,869 (GRCm39)		probably benign	Het
Arid1b	CGG	CGGAGG	17: 5,045,870 (GRCm39)		probably benign	Het
Begain	G	GCCGCCC	12: 108,999,363 (GRCm39)		probably null	Het
Cacna1e	A	G	1: 154,317,882 (GRCm39)	M1500T	probably damaging	Het
Casp16	C	A	17: 23,774,201 (GRCm39)		probably benign	Het
Ccdc174	T	C	6: 91,876,347 (GRCm39)	S395P	possibly damaging	Het
Ccdc7a	T	G	8: 129,691,434 (GRCm39)	Q396H	probably damaging	Het
Ccdc85c	CC	CCGGC	12: 108,240,887 (GRCm39)		probably benign	Het
Cemip	T	C	7: 83,610,843 (GRCm39)	T704A	probably damaging	Het
Cfap68	C	T	9: 50,677,067 (GRCm39)	R8H	probably benign	Het
Col7a1	C	T	9: 108,793,547 (GRCm39)	P1370S	unknown	Het
Cts8	T	C	13: 61,397,102 (GRCm39)	I273V	probably benign	Het
Cyp2c50	T	A	19: 40,078,268 (GRCm39)	I42N	probably damaging	Het
Dbt	T	G	3: 116,341,717 (GRCm39)	Y439*	probably null	Het
Dennd1b	T	A	1: 138,981,135 (GRCm39)	D116E	probably damaging	Het
Dkk2	T	A	3: 131,883,863 (GRCm39)	H254Q	probably damaging	Het
Dpy30	C	A	17: 74,622,902 (GRCm39)	V27F	possibly damaging	Het
Efhd2	GCCGCC	GCCGCCCCCGCC	4: 141,602,069 (GRCm39)		probably benign	Het
Eif4g3	A	T	4: 137,903,235 (GRCm39)	E1020V	probably damaging	Het
Elmo1	T	A	13: 20,458,706 (GRCm39)	S156T	probably benign	Het
Fancd2os	T	C	6: 113,574,881 (GRCm39)	T42A	probably damaging	Het
Fbrsl1	TGTGC	TGTGCGGGTGTGGGTGC	5: 110,525,984 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,808,184 (GRCm39)	V1501A	probably benign	Het
Gm8369	GTGT	GTGTTTGT	19: 11,489,118 (GRCm39)		probably null	Het
Gpr139	T	C	7: 118,744,090 (GRCm39)	D165G	probably benign	Het
Grik2	T	C	10: 49,120,480 (GRCm39)	E603G	probably damaging	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Ifitm10	T	A	7: 141,882,330 (GRCm39)	M147L	unknown	Het
Itpkb	C	T	1: 180,160,887 (GRCm39)	R338W	probably damaging	Het
Kif1b	T	A	4: 149,336,195 (GRCm39)		probably null	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	1: 83,019,974 (GRCm39)		probably benign	Het
Krtap28-10	AGCCACCACAGC	AGCCACCACAGCCACCGCCACCACAGC	1: 83,020,000 (GRCm39)		probably benign	Het
Krtap28-10	CAGCCA	CAGCCATAGCCA	1: 83,019,849 (GRCm39)		probably benign	Het
Krtap28-10	AGCCAC	AGCCACCGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 94,984,422 (GRCm39)		probably benign	Het
Mical2	T	C	7: 111,922,833 (GRCm39)	Y613H	probably damaging	Het
Mlf2	C	A	6: 124,911,259 (GRCm39)	H91Q	probably benign	Het
Nat9	A	T	11: 115,074,212 (GRCm39)	I152N	probably damaging	Het
Or10d4c	T	C	9: 39,558,559 (GRCm39)	M179T	probably benign	Het
Or4a75	A	T	2: 89,447,711 (GRCm39)	I275N	possibly damaging	Het
Pdik1l	CACCAC	CACCACAACCAC	4: 134,006,822 (GRCm39)		probably benign	Het
Phldb2	T	C	16: 45,583,337 (GRCm39)	S1054G	probably damaging	Het
Pkhd1l1	TTTT	TTTTTTTTTTGTTT	15: 44,421,901 (GRCm39)		probably benign	Het
Plcg2	T	A	8: 118,300,263 (GRCm39)		probably null	Het
Polr1has	CACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCAC	17: 37,275,946 (GRCm39)		probably benign	Het
Prdm16	T	A	4: 154,426,452 (GRCm39)	R444S	probably damaging	Het
Rgs6	T	C	12: 83,110,223 (GRCm39)	F163L	probably damaging	Het
Rnaseh2a	A	T	8: 85,686,687 (GRCm39)	L154*	probably null	Het
Rpp38	A	G	2: 3,330,072 (GRCm39)	S277P	unknown	Het
Setd1a	GGTAGTGGT	GGTAGTGGTTGTAGTGGT	7: 127,384,486 (GRCm39)		probably benign	Het
Shisa6	CGACAGCAGCAGAG	CG	11: 66,416,749 (GRCm39)		probably benign	Het
Slc27a2	T	A	2: 126,395,175 (GRCm39)	L34Q	possibly damaging	Het
Slc7a6	G	A	8: 106,922,030 (GRCm39)	V386I	probably benign	Het
Spry1	C	T	3: 37,697,264 (GRCm39)	T169I	possibly damaging	Het
Sry	TGCTGCTGCTG	TGCTGCTGCTGCTG	Y: 2,662,826 (GRCm39)		probably benign	Het
Stk24	A	T	14: 121,532,172 (GRCm39)	I275N	probably benign	Het
Strn	TC	TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC	17: 78,984,716 (GRCm39)		probably null	Het
Tcp11l2	C	A	10: 84,449,388 (GRCm39)	P451Q	probably damaging	Het
Tfeb	AGC	AGCTGC	17: 48,097,027 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,138 (GRCm39)		probably benign	Het
V1ra8	A	G	6: 90,180,591 (GRCm39)	T265A	probably benign	Het
Zfp106	CTCCTGGCAGT	CT	2: 120,355,026 (GRCm39)		probably benign	Het
Zfp612	C	A	8: 110,816,193 (GRCm39)	H467N	probably damaging	Het
Zfp777	A	T	6: 48,018,982 (GRCm39)	Y317*	probably null	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
R7653:Gabrb2	UTSW	11	42,378,039 (GRCm39)	missense	probably damaging	1.00
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
X0020:Gabrb2	UTSW	11	42,313,473 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TAGTTTTGGCCGCAACGCTC -3'
(R):5'- ATTGTAACTGGAAAACCGCGAG -3'

Sequencing Primer
(F):5'- TCTGGAGCGACATGTGGCAC -3'
(R):5'- CGCGAGGACCTTAGTGTATTCC -3'

Posted On

2019-12-04