Mutagenetix > Incidental Mutation

Incidental Mutation 'R2184:Gabrb2'

237370

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

040186-MU

Accession Numbers

Essential gene?

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

Stock #

R2184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42310584-42519855 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 42312255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141868 (fasta)

Gene Model

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

AlphaFold

P63137

Predicted Effect

probably null
Transcript: ENSMUST00000007797

SMART Domains

Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653

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

noncoding transcript
Transcript: ENSMUST00000136050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143626

Predicted Effect

probably null
Transcript: ENSMUST00000192403

SMART Domains

Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,019,389 (GRCm39)	R184G	probably damaging	Het
2300002M23Rik	C	A	17: 35,879,115 (GRCm39)	A151E	probably benign	Het
A930011G23Rik	C	T	5: 99,380,228 (GRCm39)	R339Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,642 (GRCm39)	Y57C	probably benign	Het
Adprhl1	A	G	8: 13,292,559 (GRCm39)	V244A	probably benign	Het
Agl	T	C	3: 116,574,426 (GRCm39)	N753D	probably benign	Het
Amotl1	T	A	9: 14,486,686 (GRCm39)	M440L	probably benign	Het
Angpt2	A	G	8: 18,742,132 (GRCm39)	Y475H	probably benign	Het
Angpt4	A	T	2: 151,780,874 (GRCm39)	H374L	probably damaging	Het
Ank1	A	T	8: 23,599,270 (GRCm39)	T801S	probably damaging	Het
Ap5m1	G	T	14: 49,323,752 (GRCm39)	A481S	probably damaging	Het
AY358078	G	T	14: 52,063,445 (GRCm39)	G364W	probably damaging	Het
C4b	C	A	17: 34,956,676 (GRCm39)	A641S	probably benign	Het
Capn13	T	C	17: 73,672,943 (GRCm39)	Y120C	probably damaging	Het
Cbx6	T	C	15: 79,712,762 (GRCm39)	T222A	probably benign	Het
Cckar	T	C	5: 53,860,254 (GRCm39)	T192A	probably damaging	Het
Cdc42bpb	T	C	12: 111,262,478 (GRCm39)	D30G	probably damaging	Het
Cdk18	A	G	1: 132,043,690 (GRCm39)	Y385H	probably damaging	Het
Cep170	A	T	1: 176,584,542 (GRCm39)	D612E	probably benign	Het
Dennd4b	G	T	3: 90,182,847 (GRCm39)	R888L	probably damaging	Het
Egf	A	T	3: 129,517,007 (GRCm39)	C373*	probably null	Het
Gle1	G	T	2: 29,839,030 (GRCm39)	A482S	probably damaging	Het
Gm10644	T	C	8: 84,660,256 (GRCm39)	T30A	possibly damaging	Het
Gmnn	A	G	13: 24,937,706 (GRCm39)	Y95H	probably damaging	Het
Hectd3	T	A	4: 116,858,100 (GRCm39)	S643T	possibly damaging	Het
Hoga1	A	G	19: 42,049,830 (GRCm39)	Y225C	probably damaging	Het
Hook3	T	C	8: 26,609,011 (GRCm39)	E11G	probably benign	Het
Hsd17b1	C	A	11: 100,969,357 (GRCm39)	S30R	probably benign	Het
Htr3b	G	A	9: 48,858,544 (GRCm39)	P112S	probably damaging	Het
Iqch	T	A	9: 63,432,351 (GRCm39)	D348V	probably damaging	Het
Irgm2	A	T	11: 58,111,254 (GRCm39)	N327I	probably benign	Het
Itgb4	T	C	11: 115,870,450 (GRCm39)	I93T	probably damaging	Het
Lamb2	T	C	9: 108,357,752 (GRCm39)	F92L	probably damaging	Het
Lats2	T	C	14: 57,929,016 (GRCm39)	H953R	probably damaging	Het
Lrp1b	T	C	2: 40,620,714 (GRCm39)	E3588G	probably benign	Het
Marchf1	A	G	8: 66,840,075 (GRCm39)	E286G	probably benign	Het
Mc2r	G	T	18: 68,541,196 (GRCm39)	F32L	probably benign	Het
Mink1	C	T	11: 70,494,623 (GRCm39)	T268M	probably damaging	Het
Mta1	G	A	12: 113,093,815 (GRCm39)		probably null	Het
Muc5b	C	A	7: 141,412,601 (GRCm39)	S1849*	probably null	Het
Myh15	A	G	16: 48,957,874 (GRCm39)	E897G	probably damaging	Het
Nobox	T	C	6: 43,281,819 (GRCm39)	Q418R	possibly damaging	Het
Obsl1	G	T	1: 75,478,861 (GRCm39)	Q626K	probably benign	Het
Or11h4	A	G	14: 50,974,059 (GRCm39)	S187P	probably damaging	Het
Or13a24	T	C	7: 140,154,315 (GRCm39)	V83A	probably benign	Het
Or1j12	A	G	2: 36,343,046 (GRCm39)	T150A	probably benign	Het
Or2w25	T	A	11: 59,503,964 (GRCm39)	M58K	probably damaging	Het
Or5w14	G	A	2: 87,541,549 (GRCm39)	R234C	probably damaging	Het
Or8k24	G	A	2: 86,216,489 (GRCm39)	T91I	probably benign	Het
Or9i1	A	G	19: 13,839,399 (GRCm39)	I81V	probably benign	Het
Pald1	C	T	10: 61,182,915 (GRCm39)	A345T	possibly damaging	Het
Pde8b	G	A	13: 95,162,723 (GRCm39)	P800S	probably damaging	Het
Pgm2l1	G	A	7: 99,917,362 (GRCm39)	C493Y	possibly damaging	Het
Pias3	A	G	3: 96,609,537 (GRCm39)	S311G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,362,692 (GRCm39)	N573D	possibly damaging	Het
Plaat3	A	G	19: 7,556,583 (GRCm39)	D128G	probably damaging	Het
Plxnc1	T	G	10: 94,780,131 (GRCm39)	S104R	probably damaging	Het
Pofut2	T	A	10: 77,103,059 (GRCm39)	F179I	probably damaging	Het
Prkcsh	T	A	9: 21,916,028 (GRCm39)	C112S	probably damaging	Het
Prss32	G	A	17: 24,078,297 (GRCm39)	A328T	probably benign	Het
Ptgir	G	T	7: 16,642,708 (GRCm39)	R103L	probably damaging	Het
Ptpn5	G	A	7: 46,738,350 (GRCm39)	S244F	probably damaging	Het
Rnpepl1	G	A	1: 92,844,545 (GRCm39)	V346I	probably benign	Het
Sh3rf1	T	A	8: 61,825,688 (GRCm39)	V561D	probably damaging	Het
Slc22a19	A	T	19: 7,687,026 (GRCm39)	Y160N	probably benign	Het
Sorbs3	A	G	14: 70,428,880 (GRCm39)		probably null	Het
Sostdc1	T	G	12: 36,367,295 (GRCm39)	I157S	probably damaging	Het
Svil	G	T	18: 5,099,534 (GRCm39)	R1777L	probably damaging	Het
Svil	A	T	18: 5,099,615 (GRCm39)	E1804V	probably damaging	Het
Tasor	T	A	14: 27,188,141 (GRCm39)	N862K	possibly damaging	Het
Thbs4	A	G	13: 92,911,302 (GRCm39)	S294P	probably benign	Het
Tle2	A	G	10: 81,426,111 (GRCm39)	Y750C	probably damaging	Het
Tmcc3	T	C	10: 94,418,168 (GRCm39)	L312P	probably damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,780,475 (GRCm39)	M734K	probably benign	Het
Trmt2a	A	T	16: 18,070,859 (GRCm39)	R531W	probably benign	Het
Ubn2	C	T	6: 38,461,029 (GRCm39)	R483W	probably damaging	Het
Zc3hav1	T	A	6: 38,284,343 (GRCm39)	Y924F	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
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'- TTAAACAAGGAAATCTCGGTCCC -3'
(R):5'- CACCGTCTCTTTAACCAGCG -3'

Sequencing Primer
(F):5'- CCCTTTGATGTTTTGGTACGCCG -3'
(R):5'- CCAGCGACATATTACTAGGGTCATTG -3'

Posted On

2014-10-02