Mutagenetix > Incidental Mutation

Incidental Mutation 'R1856:Gabrb2'

206145

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

039880-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

R1856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42310584-42519855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42517540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 454 (N454S)

Ref Sequence

ENSEMBL: ENSMUSP00000141868 (fasta)

Gene Model

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

AlphaFold

P63137

Predicted Effect

probably benign
Transcript: ENSMUST00000007797
AA Change: N416S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: N416S

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 benign
Transcript: ENSMUST00000192403
AA Change: N454S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: N454S

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: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,504,453 (GRCm39)	M233L	probably benign	Het
Abca14	T	G	7: 119,877,404 (GRCm39)	F1017L	probably damaging	Het
Abcb11	A	C	2: 69,076,267 (GRCm39)	V1147G	probably damaging	Het
Abcc10	T	A	17: 46,617,529 (GRCm39)	S1128C	probably damaging	Het
Adam6a	G	A	12: 113,508,923 (GRCm39)	C432Y	probably damaging	Het
Adamdec1	C	T	14: 68,808,397 (GRCm39)	V318M	probably damaging	Het
Ahnak	C	A	19: 8,979,412 (GRCm39)	S232Y	possibly damaging	Het
Amt	A	C	9: 108,174,361 (GRCm39)	H42P	probably damaging	Het
Anapc1	A	T	2: 128,501,708 (GRCm39)	L778Q	probably damaging	Het
Ankhd1	G	A	18: 36,777,580 (GRCm39)	A1588T	probably benign	Het
Anln	A	T	9: 22,264,627 (GRCm39)	L881Q	probably damaging	Het
Appl1	A	G	14: 26,649,706 (GRCm39)	S607P	probably damaging	Het
Arg2	G	T	12: 79,194,436 (GRCm39)	V87L	probably benign	Het
Atp13a2	C	T	4: 140,731,323 (GRCm39)	P869L	probably benign	Het
Atxn7l1	T	A	12: 33,408,769 (GRCm39)	D310E	probably damaging	Het
Cd6	A	T	19: 10,775,966 (GRCm39)	D164E	probably damaging	Het
Cdan1	C	A	2: 120,555,417 (GRCm39)	V775L	probably benign	Het
Cep164	A	T	9: 45,687,056 (GRCm39)		probably null	Het
Cep41	A	G	6: 30,661,005 (GRCm39)	S61P	probably damaging	Het
Clcn7	C	A	17: 25,379,445 (GRCm39)	D764E	probably damaging	Het
Cog2	G	A	8: 125,278,142 (GRCm39)	G703S	possibly damaging	Het
Cramp1	T	C	17: 25,187,952 (GRCm39)	D1214G	probably damaging	Het
Cst7	G	T	2: 150,419,628 (GRCm39)	C98F	probably damaging	Het
Ctc1	T	A	11: 68,925,484 (GRCm39)	L1007Q	probably damaging	Het
Cyb5r4	G	A	9: 86,904,262 (GRCm39)	A11T	possibly damaging	Het
Dcaf8	A	G	1: 172,003,120 (GRCm39)	D306G	probably damaging	Het
Defb38	T	A	8: 19,073,592 (GRCm39)	K27I	probably benign	Het
Disp3	T	C	4: 148,356,089 (GRCm39)	E257G	probably damaging	Het
Dnajc6	T	C	4: 101,456,185 (GRCm39)	S58P	probably damaging	Het
Dock10	A	T	1: 80,584,285 (GRCm39)	D140E	possibly damaging	Het
Dop1a	T	C	9: 86,374,057 (GRCm39)	V172A	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Eci3	C	T	13: 35,137,011 (GRCm39)	A171T	possibly damaging	Het
Eml2	A	G	7: 18,927,986 (GRCm39)	D284G	probably damaging	Het
Eml5	T	C	12: 98,776,843 (GRCm39)	D1377G	probably damaging	Het
Fam186a	T	C	15: 99,838,183 (GRCm39)	E2687G	possibly damaging	Het
Fut9	A	C	4: 25,620,352 (GRCm39)	L154R	probably damaging	Het
Gpr183	T	A	14: 122,192,153 (GRCm39)	I123L	probably benign	Het
Gucy1b1	A	T	3: 81,965,659 (GRCm39)	N62K	probably benign	Het
Hcrtr2	T	C	9: 76,167,067 (GRCm39)	N90S	probably damaging	Het
Hectd1	A	T	12: 51,791,577 (GRCm39)	L2556Q	probably damaging	Het
Hfm1	T	A	5: 106,995,542 (GRCm39)	M1290L	probably benign	Het
Hgsnat	A	G	8: 26,447,284 (GRCm39)	W337R	probably benign	Het
Hmbox1	T	C	14: 65,066,097 (GRCm39)	Y291C	probably damaging	Het
Hmcn1	T	C	1: 150,597,415 (GRCm39)	N1749S	probably benign	Het
Igsf10	T	C	3: 59,238,693 (GRCm39)	D496G	possibly damaging	Het
Iqch	C	T	9: 63,441,619 (GRCm39)		probably null	Het
Irf6	A	G	1: 192,849,843 (GRCm39)	D255G	probably benign	Het
Kif9	G	A	9: 110,346,787 (GRCm39)	G642R	probably null	Het
Klhl20	A	G	1: 160,934,312 (GRCm39)	Y236H	probably benign	Het
Krt39	T	A	11: 99,409,914 (GRCm39)	K208*	probably null	Het
Lama3	T	A	18: 12,670,838 (GRCm39)	L808*	probably null	Het
Lrp5	C	T	19: 3,647,346 (GRCm39)	A1299T	probably benign	Het
Lysmd4	A	G	7: 66,875,979 (GRCm39)	Q214R	probably benign	Het
Macf1	T	A	4: 123,263,641 (GRCm39)	E6960V	probably damaging	Het
Mcpt2	A	G	14: 56,281,156 (GRCm39)	E120G	probably benign	Het
Mpeg1	A	G	19: 12,439,720 (GRCm39)	T393A	probably benign	Het
Myh4	G	A	11: 67,146,508 (GRCm39)	E1494K	probably damaging	Het
Nbas	T	G	12: 13,524,230 (GRCm39)	S1695R	possibly damaging	Het
Nlgn1	G	T	3: 25,494,201 (GRCm39)	Y249*	probably null	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nup107	A	G	10: 117,586,811 (GRCm39)	L910P	probably damaging	Het
Obscn	T	A	11: 58,931,122 (GRCm39)	D5838V	probably damaging	Het
Or10g7	T	C	9: 39,905,655 (GRCm39)	I183T	probably benign	Het
Or1j18	T	C	2: 36,624,357 (GRCm39)	I8T	probably benign	Het
Or4c113	G	A	2: 88,885,203 (GRCm39)	T189M	possibly damaging	Het
Or8d2b	T	C	9: 38,788,892 (GRCm39)	I140T	possibly damaging	Het
Otogl	G	T	10: 107,690,125 (GRCm39)	S915Y	possibly damaging	Het
P2rx7	T	A	5: 122,819,095 (GRCm39)	C506S	probably damaging	Het
P4hb	T	C	11: 120,454,044 (GRCm39)	E350G	probably benign	Het
Papolg	A	T	11: 23,817,379 (GRCm39)	V606E	probably benign	Het
Pappa	A	T	4: 65,258,980 (GRCm39)	D1576V	probably damaging	Het
Pclo	G	T	5: 14,828,566 (GRCm39)	V1402F	probably damaging	Het
Pdcd11	A	G	19: 47,086,626 (GRCm39)	T211A	probably benign	Het
Pdzd2	T	C	15: 12,373,941 (GRCm39)	R2065G	possibly damaging	Het
Plcl2	T	C	17: 50,914,878 (GRCm39)	V629A	probably benign	Het
Prkcsh	G	A	9: 21,915,871 (GRCm39)	V92I	possibly damaging	Het
Prpf19	G	T	19: 10,879,780 (GRCm39)	V320F	probably damaging	Het
Ptpn3	T	A	4: 57,239,682 (GRCm39)	I283F	probably damaging	Het
Rcc2	T	A	4: 140,447,915 (GRCm39)	D480E	probably benign	Het
Rnf182	G	A	13: 43,821,518 (GRCm39)	C23Y	probably damaging	Het
Rnf186	C	T	4: 138,694,673 (GRCm39)	T71I	probably benign	Het
Scyl3	A	G	1: 163,761,265 (GRCm39)		probably null	Het
Slc12a6	G	T	2: 112,166,272 (GRCm39)		probably null	Het
Slc1a2	C	A	2: 102,607,912 (GRCm39)	S520Y	probably damaging	Het
Slc35e2	T	A	4: 155,696,186 (GRCm39)	L191Q	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx33	T	C	9: 56,833,295 (GRCm39)	H258R	possibly damaging	Het
Tecpr2	A	T	12: 110,899,498 (GRCm39)	H622L	probably benign	Het
Thbs3	A	T	3: 89,133,713 (GRCm39)	E888D	probably damaging	Het
Tlk2	T	C	11: 105,112,124 (GRCm39)	L159P	probably benign	Het
Tmem70	A	T	1: 16,747,497 (GRCm39)	T205S	probably damaging	Het
Trappc10	T	A	10: 78,032,285 (GRCm39)	H1001L	probably benign	Het
Trim12a	T	C	7: 103,950,064 (GRCm39)	T292A	probably benign	Het
Trip11	G	A	12: 101,849,592 (GRCm39)	R92*	probably null	Het
Trpa1	G	A	1: 14,969,612 (GRCm39)	Q386*	probably null	Het
Trpc4	T	A	3: 54,187,410 (GRCm39)	V454D	probably damaging	Het
Ttc36	A	T	9: 44,714,051 (GRCm39)	D22E	probably benign	Het
Ttk	A	T	9: 83,751,316 (GRCm39)	I798F	probably damaging	Het
Ttn	T	C	2: 76,573,977 (GRCm39)	I17312V	probably damaging	Het
Txndc15	A	T	13: 55,865,875 (GRCm39)	E113V	possibly damaging	Het
Ube2d4	T	A	15: 58,718,448 (GRCm39)		noncoding transcript	Het
Urb1	T	A	16: 90,558,583 (GRCm39)	T1723S	probably benign	Het
Vmn1r65	A	T	7: 6,011,265 (GRCm39)	V323D	possibly damaging	Het
Vmn2r54	A	G	7: 12,366,238 (GRCm39)	M232T	probably benign	Het
Wdr59	A	G	8: 112,202,813 (GRCm39)	S577P	probably damaging	Het
Wfikkn2	C	T	11: 94,128,949 (GRCm39)	W397*	probably null	Het
Ypel1	T	A	16: 16,899,511 (GRCm39)		probably null	Het
Ythdf1	T	A	2: 180,552,763 (GRCm39)	D484V	probably damaging	Het
Zdhhc17	A	G	10: 110,783,154 (GRCm39)		probably null	Het
Zfp472	A	T	17: 33,184,887 (GRCm39)	H2L	possibly damaging	Het
Zfp953	A	T	13: 67,493,422 (GRCm39)	M74K	probably benign	Het
Zmat4	C	T	8: 24,419,151 (GRCm39)	T61M	probably benign	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
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
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'- CTTCCTCCTTGCAGATGGAC -3'
(R):5'- ACTGTTTGAAGAGGAATCCAGTCC -3'

Sequencing Primer
(F):5'- TGGACCCCCATGAGAACATCTTAC -3'
(R):5'- CTTCTCACGGAAGGCTGTAG -3'

Posted On

2014-06-23