Mutagenetix > Incidental Mutation

Incidental Mutation 'R1562:Gabrb3'

170675

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

039601-MU

Accession Numbers

Essential gene?

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

Stock #

R1562 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57240266-57478550 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 57415262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 111 (R111*)

Ref Sequence

ENSEMBL: ENSMUSP00000143353 (fasta)

Gene Model

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

AlphaFold

P63080

Predicted Effect

probably null
Transcript: ENSMUST00000039697
AA Change: R111*

SMART Domains

Protein: ENSMUSP00000038051
Gene: ENSMUSG00000033676
AA Change: R111*

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 null
Transcript: ENSMUST00000085240
AA Change: R133*

SMART Domains

Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676
AA Change: R133*

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 null
Transcript: ENSMUST00000138350
AA Change: R68*

SMART Domains

Protein: ENSMUSP00000118835
Gene: ENSMUSG00000033676
AA Change: R68*

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 null
Transcript: ENSMUST00000196198
AA Change: R111*

SMART Domains

Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
AA Change: R111*

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: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,331 (GRCm39)	I2201V	probably benign	Het
Adam22	T	C	5: 8,145,007 (GRCm39)	N817S	probably damaging	Het
Alox12	C	A	11: 70,140,991 (GRCm39)	R348L	probably damaging	Het
Asb17	A	T	3: 153,559,143 (GRCm39)	T285S	probably benign	Het
Casp4	T	C	9: 5,324,733 (GRCm39)	S182P	possibly damaging	Het
Cenpe	T	C	3: 134,944,155 (GRCm39)	M985T	possibly damaging	Het
Clcn1	C	T	6: 42,277,169 (GRCm39)	P420L	probably benign	Het
Coro2a	T	C	4: 46,548,917 (GRCm39)	I126V	probably benign	Het
Cubn	T	C	2: 13,432,778 (GRCm39)	Y1181C	probably damaging	Het
Cyp2d22	A	T	15: 82,258,179 (GRCm39)	L147Q	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fat2	T	C	11: 55,200,800 (GRCm39)	N758S	probably damaging	Het
Fbxo43	T	C	15: 36,163,162 (GRCm39)	D15G	probably damaging	Het
Flt3	T	C	5: 147,281,323 (GRCm39)	E803G	probably damaging	Het
Folr1	T	G	7: 101,507,801 (GRCm39)	D213A	probably damaging	Het
Fus	T	C	7: 127,579,094 (GRCm39)	V359A	probably damaging	Het
Gm17324	T	C	9: 78,355,964 (GRCm39)		probably benign	Het
Hormad2	A	T	11: 4,358,848 (GRCm39)		probably null	Het
Ifi27l2b	T	A	12: 103,422,780 (GRCm39)		probably null	Het
Isg20	G	T	7: 78,569,891 (GRCm39)	C176F	probably benign	Het
Katnip	C	A	7: 125,442,020 (GRCm39)	S643Y	probably damaging	Het
Krt15	C	A	11: 100,024,007 (GRCm39)	V346L	probably benign	Het
Liat1	A	T	11: 75,894,024 (GRCm39)	I134F	probably damaging	Het
Med13l	A	G	5: 118,876,584 (GRCm39)	K920R	probably damaging	Het
Mlh3	A	T	12: 85,313,694 (GRCm39)	F831I	probably benign	Het
Mtmr9	A	G	14: 63,771,786 (GRCm39)	S267P	probably benign	Het
Mybpc1	C	T	10: 88,389,193 (GRCm39)	A406T	probably damaging	Het
Myh1	T	C	11: 67,102,196 (GRCm39)	M829T	probably benign	Het
Myo10	A	G	15: 25,780,497 (GRCm39)	Q209R	possibly damaging	Het
Nceh1	T	A	3: 27,293,701 (GRCm39)	V153D	probably damaging	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or1j19	A	G	2: 36,676,696 (GRCm39)	D53G	probably damaging	Het
Or2ag1b	C	T	7: 106,288,187 (GRCm39)	M250I	probably benign	Het
Or4c103	T	A	2: 88,513,423 (GRCm39)	I218F	probably benign	Het
Or8c20	C	A	9: 38,260,658 (GRCm39)	S87*	probably null	Het
Pcnt	G	A	10: 76,203,164 (GRCm39)	T2646M	probably benign	Het
Phf10	A	T	17: 15,166,512 (GRCm39)	C453S	probably damaging	Het
Plcb4	T	A	2: 135,812,367 (GRCm39)		probably null	Het
Plekhh1	A	G	12: 79,123,482 (GRCm39)	H1185R	probably benign	Het
Prmt3	G	T	7: 49,476,602 (GRCm39)	V404L	probably benign	Het
Ptprb	T	A	10: 116,175,372 (GRCm39)	D1122E	probably benign	Het
Rars1	A	G	11: 35,711,921 (GRCm39)		probably null	Het
Rasa2	G	T	9: 96,427,803 (GRCm39)	N687K	possibly damaging	Het
Rbm11	A	G	16: 75,393,423 (GRCm39)	T40A	probably damaging	Het
Rem2	T	C	14: 54,713,775 (GRCm39)	V16A	probably benign	Het
Rlf	A	T	4: 121,007,588 (GRCm39)	M574K	possibly damaging	Het
Rpap3	A	T	15: 97,592,098 (GRCm39)	V186D	possibly damaging	Het
Sertad3	G	A	7: 27,176,048 (GRCm39)	E161K	probably damaging	Het
Sh3gl2	T	C	4: 85,304,130 (GRCm39)	S278P	probably benign	Het
Strn3	T	C	12: 51,680,401 (GRCm39)	T400A	probably benign	Het
Sycp2	A	T	2: 178,024,178 (GRCm39)	I402N	probably damaging	Het
Synj1	C	T	16: 90,784,290 (GRCm39)	V283I	probably benign	Het
Tas2r108	A	G	6: 40,471,000 (GRCm39)		probably null	Het
Ttpal	A	G	2: 163,457,323 (GRCm39)	N265S	probably benign	Het
Unc80	G	A	1: 66,677,116 (GRCm39)	G2015D	probably damaging	Het
Upf1	C	T	8: 70,796,017 (GRCm39)	W138*	probably null	Het
Vmn1r25	T	G	6: 57,955,786 (GRCm39)	M168L	probably benign	Het
Vmn2r18	A	T	5: 151,510,301 (GRCm39)	F24Y	probably benign	Het
Vmn2r4	G	T	3: 64,296,865 (GRCm39)	T640N	probably damaging	Het
Wdr75	T	A	1: 45,843,030 (GRCm39)		probably null	Het
Zdbf2	T	G	1: 63,342,747 (GRCm39)	S375R	possibly damaging	Het
Zfp648	A	G	1: 154,080,138 (GRCm39)	Q99R	probably benign	Het
Zfp964	C	T	8: 70,115,654 (GRCm39)	P85S	probably benign	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
R1714:Gabrb3	UTSW	7	57,415,176 (GRCm39)	missense	probably damaging	1.00
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'- CCATTTCAGGACATGGGATTCAG -3'
(R):5'- TGCACCACATAACTTCAAAACTGG -3'

Posted On

2014-04-13