Mutagenetix > Incidental Mutation

Incidental Mutation 'R1714:Gabrb3'

190860

Institutional Source

Beutler Lab

Gene Symbol

Gabrb3

Ensembl Gene

ENSMUSG00000033676

Gene Name

GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3

Synonyms

A230092K12Rik, Gabrb-3, beta3

MMRRC Submission

039747-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R1714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57240266-57478550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57415176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 82 (Y82F)

Ref Sequence

ENSEMBL: ENSMUSP00000143353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039697] [ENSMUST00000085240] [ENSMUST00000138350] [ENSMUST00000196198]

AlphaFold

P63080

Predicted Effect

probably damaging
Transcript: ENSMUST00000039697
AA Change: Y82F

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

SMART Domains

Protein: ENSMUSP00000038051
Gene: ENSMUSG00000033676
AA Change: Y82F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Neur_chan_LBD	37	243	1.3e-53	PFAM
Pfam:Neur_chan_memb	250	468	2.4e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085240
AA Change: Y104F

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

SMART Domains

Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676
AA Change: Y104F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Neur_chan_LBD	37	243	5.1e-51	PFAM
Pfam:Neur_chan_memb	250	468	1.8e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000138350
AA Change: Y39F

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118835
Gene: ENSMUSG00000033676
AA Change: Y39F

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	1	123	2.5e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156375

Predicted Effect

probably damaging
Transcript: ENSMUST00000196198
AA Change: Y82F

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

SMART Domains

Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
AA Change: Y82F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Neur_chan_LBD	37	243	9.7e-54	PFAM
Pfam:Neur_chan_memb	250	468	2e-55	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mutants die at birth with cleft palate. Survivors show delayed growth, reduced lifespan, seizures, ataxia, hyperactivity, hyperresponsiveness and reduced learning, mothering ability and REM sleep. A point mutation lowers anesthetic effect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,464,479 (GRCm39)	T892I	possibly damaging	Het
Abcb11	A	C	2: 69,136,925 (GRCm39)	F179V	probably damaging	Het
Adgrg6	G	T	10: 14,315,514 (GRCm39)	Q597K	possibly damaging	Het
Ankmy1	G	T	1: 92,812,916 (GRCm39)	Y464*	probably null	Het
Apba1	G	A	19: 23,922,316 (GRCm39)	E795K	possibly damaging	Het
Aqp12	T	A	1: 92,934,681 (GRCm39)	V186D	possibly damaging	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Cdc42se2	A	T	11: 54,631,112 (GRCm39)	S2R	possibly damaging	Het
Chd9	A	C	8: 91,760,853 (GRCm39)		probably benign	Het
Clk4	C	T	11: 51,171,245 (GRCm39)	H219Y	probably damaging	Het
Cngb1	A	G	8: 95,984,559 (GRCm39)	Y417H	probably damaging	Het
Cr2	A	T	1: 194,833,994 (GRCm39)	F932I	possibly damaging	Het
Cxxc1	C	A	18: 74,352,934 (GRCm39)	R415S	probably damaging	Het
Dclk2	G	A	3: 86,813,400 (GRCm39)	A182V	probably benign	Het
Ddx11	T	G	17: 66,455,754 (GRCm39)	W718G	probably damaging	Het
Dmd	A	C	X: 83,008,356 (GRCm39)	T2069P	probably benign	Het
Dnai1	T	C	4: 41,632,164 (GRCm39)	F533L	probably benign	Het
Dnajc5b	A	T	3: 19,633,265 (GRCm39)	R163*	probably null	Het
Dynll2	T	A	11: 87,874,838 (GRCm39)		probably null	Het
Ercc5	A	G	1: 44,206,499 (GRCm39)	T471A	probably benign	Het
Fan1	T	C	7: 64,016,435 (GRCm39)	D563G	probably benign	Het
Fbxo34	A	G	14: 47,766,658 (GRCm39)	Y6C	probably damaging	Het
Fcrl5	T	A	3: 87,353,713 (GRCm39)	S353T	probably damaging	Het
Gm20939	C	A	17: 95,183,234 (GRCm39)	P157T	probably damaging	Het
H2bc1	T	C	13: 24,117,935 (GRCm39)	T69A	probably benign	Het
Haus3	A	T	5: 34,321,041 (GRCm39)	H468Q	probably benign	Het
Il20ra	T	C	10: 19,631,576 (GRCm39)	V259A	probably damaging	Het
Isg15	A	T	4: 156,284,414 (GRCm39)	V38E	probably damaging	Het
Kcnq3	A	G	15: 65,871,912 (GRCm39)	S586P	probably benign	Het
Kl	A	T	5: 150,876,798 (GRCm39)	Y206F	probably benign	Het
Klk1b24	C	A	7: 43,840,939 (GRCm39)	D122E	probably damaging	Het
Kmt2d	A	C	15: 98,760,831 (GRCm39)	S840A	unknown	Het
Krt34	A	G	11: 99,930,953 (GRCm39)	S150P	possibly damaging	Het
Lamc3	A	G	2: 31,830,769 (GRCm39)	K1502R	probably benign	Het
Letm1	G	T	5: 33,918,228 (GRCm39)	R306S	possibly damaging	Het
Lnx1	C	T	5: 74,768,398 (GRCm39)	G397S	probably null	Het
Lrrc8c	A	G	5: 105,755,157 (GRCm39)	T311A	possibly damaging	Het
Mpeg1	A	T	19: 12,440,198 (GRCm39)	D552V	probably damaging	Het
Myh11	C	T	16: 14,054,232 (GRCm39)		probably null	Het
Ndufa9	T	C	6: 126,799,154 (GRCm39)		probably null	Het
Or4e5	A	C	14: 52,727,871 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,314,008 (GRCm39)	I78F	probably damaging	Het
Or8s8	G	A	15: 98,354,614 (GRCm39)	C141Y	probably damaging	Het
Polr3d	A	C	14: 70,678,755 (GRCm39)	M117R	possibly damaging	Het
Ppp5c	T	C	7: 16,742,628 (GRCm39)	I237V	probably benign	Het
Prrc2c	G	A	1: 162,504,945 (GRCm39)	T2632M	probably damaging	Het
Ptprg	C	A	14: 12,213,697 (GRCm38)	Q1022K	probably damaging	Het
Pus10	T	A	11: 23,675,542 (GRCm39)	H471Q	probably damaging	Het
Ralgapa1	A	G	12: 55,689,174 (GRCm39)	V1928A	probably damaging	Het
Rbpms2	CACT	CACTACT	9: 65,558,947 (GRCm39)		probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfpl4	T	G	7: 5,113,357 (GRCm39)	T269P	probably benign	Het
Rgs10	A	G	7: 128,004,946 (GRCm39)	V72A	probably damaging	Het
Rsph1	T	C	17: 31,474,190 (GRCm39)	N289S	probably benign	Het
Sbk2	T	C	7: 4,966,121 (GRCm39)	D21G	probably benign	Het
Shbg	A	T	11: 69,507,983 (GRCm39)	D127E	possibly damaging	Het
Spag16	A	G	1: 69,882,164 (GRCm39)	E52G	probably damaging	Het
Ssh2	G	A	11: 77,344,850 (GRCm39)	G945D	possibly damaging	Het
Sstr3	A	T	15: 78,424,473 (GRCm39)	D91E	probably damaging	Het
Syne2	C	A	12: 76,101,713 (GRCm39)	A669E	probably benign	Het
Traf3	A	G	12: 111,208,907 (GRCm39)	I109V	probably benign	Het
Ube2j1	A	G	4: 33,049,886 (GRCm39)	T295A	probably damaging	Het
Usp46	A	G	5: 74,163,828 (GRCm39)	V276A	probably benign	Het
Vmn1r200	T	C	13: 22,579,640 (GRCm39)	S139P	possibly damaging	Het
Ydjc	G	A	16: 16,965,663 (GRCm39)	V143M	probably damaging	Het
Zfp169	T	C	13: 48,652,330 (GRCm39)	E29G	probably benign	Het
Zfp292	A	G	4: 34,808,935 (GRCm39)	S1370P	probably damaging	Het
Zfp763	C	T	17: 33,238,591 (GRCm39)	D185N	probably damaging	Het
Zfp827	A	T	8: 79,787,202 (GRCm39)	N123Y	probably damaging	Het
Zfp979	A	T	4: 147,698,442 (GRCm39)	I89N	probably damaging	Het
Zfr2	T	C	10: 81,080,583 (GRCm39)	L419P	probably damaging	Het

Other mutations in Gabrb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Gabrb3	APN	7	57,466,226 (GRCm39)	missense	probably benign	0.00
IGL01878:Gabrb3	APN	7	57,466,163 (GRCm39)	missense	probably damaging	1.00
IGL02092:Gabrb3	APN	7	57,415,334 (GRCm39)	missense	probably damaging	1.00
IGL02193:Gabrb3	APN	7	57,442,264 (GRCm39)	missense	probably damaging	1.00
IGL02676:Gabrb3	APN	7	57,241,112 (GRCm39)	intron	probably benign
R0325:Gabrb3	UTSW	7	57,415,278 (GRCm39)	missense	probably damaging	1.00
R1560:Gabrb3	UTSW	7	57,466,043 (GRCm39)	missense	probably damaging	0.98
R1562:Gabrb3	UTSW	7	57,415,262 (GRCm39)	nonsense	probably null
R2054:Gabrb3	UTSW	7	57,474,241 (GRCm39)	missense	probably benign	0.04
R4134:Gabrb3	UTSW	7	57,241,036 (GRCm39)	missense	probably benign	0.01
R4135:Gabrb3	UTSW	7	57,241,036 (GRCm39)	missense	probably benign	0.01
R4176:Gabrb3	UTSW	7	57,241,061 (GRCm39)	missense	probably benign	0.00
R4761:Gabrb3	UTSW	7	57,415,250 (GRCm39)	missense	probably damaging	1.00
R4869:Gabrb3	UTSW	7	57,442,207 (GRCm39)	intron	probably benign
R5247:Gabrb3	UTSW	7	57,240,339 (GRCm39)	missense	possibly damaging	0.96
R6935:Gabrb3	UTSW	7	57,241,561 (GRCm39)	missense	probably damaging	0.99
R7479:Gabrb3	UTSW	7	57,474,171 (GRCm39)	missense	possibly damaging	0.74
R7562:Gabrb3	UTSW	7	57,461,926 (GRCm39)	nonsense	probably null
R7692:Gabrb3	UTSW	7	57,466,203 (GRCm39)	missense	probably damaging	1.00
R8530:Gabrb3	UTSW	7	57,461,819 (GRCm39)	missense	probably damaging	1.00
R8819:Gabrb3	UTSW	7	57,442,329 (GRCm39)	missense	probably damaging	1.00
R8820:Gabrb3	UTSW	7	57,442,329 (GRCm39)	missense	probably damaging	1.00
R9223:Gabrb3	UTSW	7	57,466,152 (GRCm39)	missense	probably damaging	1.00
R9651:Gabrb3	UTSW	7	57,415,202 (GRCm39)	missense	probably damaging	1.00
X0064:Gabrb3	UTSW	7	57,461,933 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGTTCACTGCCAGCTATCTGC -3'
(R):5'- CAAGTGAGAAACTCAATGCCAGTGC -3'

Sequencing Primer
(F):5'- GATTGCCTCAAAGTGCAACCTG -3'
(R):5'- TGAGCCCATACAGCACTGTC -3'

Posted On

2014-05-14