Mutagenetix > Incidental Mutation

Incidental Mutation 'R0006:Gnb3'

43637

Institutional Source

Beutler Lab

Gene Symbol

Gnb3

Ensembl Gene

ENSMUSG00000023439

Gene Name

guanine nucleotide binding protein (G protein), beta 3

Synonyms

MMRRC Submission

041980-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124811203-124817238 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 124812767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024206] [ENSMUST00000024270] [ENSMUST00000131847] [ENSMUST00000151674] [ENSMUST00000150120]

AlphaFold

Q61011

Predicted Effect

probably benign
Transcript: ENSMUST00000024206

SMART Domains

Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439

Domain	Start	End	E-Value	Type
WD40	44	83	4.91e-8	SMART
WD40	86	125	1.61e-3	SMART
WD40	132	170	5.1e-6	SMART
WD40	173	212	3.99e-8	SMART
WD40	215	254	2.67e-9	SMART
WD40	263	298	2e-1	SMART
WD40	301	340	3.87e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000024270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129251

Predicted Effect

probably benign
Transcript: ENSMUST00000131847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140233

Predicted Effect

probably benign
Transcript: ENSMUST00000151674

Predicted Effect

probably benign
Transcript: ENSMUST00000150120

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.3%

Validation Efficiency

97% (67/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal light ON response and synaptic maintenance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,813,935 (GRCm39)		probably benign	Het
Aldh3a1	G	A	11: 61,107,927 (GRCm39)	V324M	probably damaging	Het
Als2cl	T	A	9: 110,723,686 (GRCm39)	L694Q	possibly damaging	Het
Appl2	A	G	10: 83,438,762 (GRCm39)	F556L	probably damaging	Het
Atad2b	T	A	12: 4,992,030 (GRCm39)	S210T	possibly damaging	Het
Aurka	A	G	2: 172,201,673 (GRCm39)		probably null	Het
Boc	C	T	16: 44,316,812 (GRCm39)	V444I	probably benign	Het
Cfap61	G	A	2: 145,919,232 (GRCm39)	V655I	probably benign	Het
Chd8	A	G	14: 52,472,750 (GRCm39)	I351T	possibly damaging	Het
Chid1	T	A	7: 141,076,339 (GRCm39)		probably benign	Het
Cyp3a41a	T	A	5: 145,641,606 (GRCm39)	H288L	probably benign	Het
Dnase2b	T	A	3: 146,288,244 (GRCm39)	I284F	probably damaging	Het
Dock2	A	G	11: 34,262,453 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,267,999 (GRCm39)	T5325I	probably benign	Het
Erbb3	A	G	10: 128,409,279 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,419,695 (GRCm39)	N316S	possibly damaging	Het
Farsa	G	T	8: 85,587,934 (GRCm39)		probably benign	Het
Fibcd1	T	G	2: 31,728,599 (GRCm39)	D86A	probably damaging	Het
Gab1	A	T	8: 81,496,359 (GRCm39)	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,473,058 (GRCm39)	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155 (GRCm39)	T150K	possibly damaging	Het
Hephl1	T	A	9: 14,988,060 (GRCm39)	T683S	probably benign	Het
Hmcn1	G	A	1: 150,684,427 (GRCm39)	P381L	probably damaging	Het
Hspa8	T	G	9: 40,715,925 (GRCm39)	N544K	probably benign	Het
Hspg2	C	T	4: 137,247,242 (GRCm39)	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,042,382 (GRCm39)		probably benign	Het
Jazf1	A	G	6: 52,871,071 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,927,201 (GRCm39)	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,806,489 (GRCm39)	Y460F	possibly damaging	Het
Lcor	A	G	19: 41,573,338 (GRCm39)	T698A	probably benign	Het
Lyrm7	T	A	11: 54,739,423 (GRCm39)	T76S	probably benign	Het
Map1b	C	T	13: 99,571,810 (GRCm39)	V304M	probably damaging	Het
Mcub	A	C	3: 129,727,414 (GRCm39)		probably benign	Het
Muc13	T	C	16: 33,623,518 (GRCm39)	S271P	probably damaging	Het
Myo16	A	G	8: 10,525,988 (GRCm39)	K843E	probably damaging	Het
Nav2	A	G	7: 49,102,978 (GRCm39)	E531G	possibly damaging	Het
Niban3	A	G	8: 72,057,688 (GRCm39)		probably benign	Het
Nup188	T	C	2: 30,212,035 (GRCm39)	V553A	probably benign	Het
Or1e16	A	G	11: 73,286,314 (GRCm39)	F178S	probably damaging	Het
Or1e1c	A	G	11: 73,266,414 (GRCm39)	M283V	possibly damaging	Het
Or52d1	A	G	7: 103,755,527 (GRCm39)	I14V	probably benign	Het
Or6z1	A	G	7: 6,504,610 (GRCm39)	I205T	possibly damaging	Het
Or8b9	T	A	9: 37,766,516 (GRCm39)	V134D	possibly damaging	Het
P4ha3	C	T	7: 99,968,155 (GRCm39)	R378*	probably null	Het
Rap1gds1	G	T	3: 138,689,632 (GRCm39)		probably null	Het
Rbfox1	T	A	16: 7,148,284 (GRCm39)	S244R	probably benign	Het
Rpp40	G	A	13: 36,080,718 (GRCm39)	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,785,144 (GRCm39)	C148R	probably damaging	Het
Skint5	T	C	4: 113,751,059 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,073,855 (GRCm39)	S1405P	probably damaging	Het
Tex35	T	C	1: 156,927,314 (GRCm39)	K154E	possibly damaging	Het
Thada	T	C	17: 84,533,468 (GRCm39)	N1661S	probably benign	Het
Tle4	A	G	19: 14,444,078 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,901,266 (GRCm39)	S1027P	probably benign	Het
Tpm3	T	A	3: 89,994,968 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,158,960 (GRCm39)	F2438L	probably benign	Het
Uggt2	A	T	14: 119,287,075 (GRCm39)	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,409,290 (GRCm39)	H205Q	probably damaging	Het
Wbp2	T	C	11: 115,970,614 (GRCm39)		probably null	Het
Xirp1	T	C	9: 119,846,520 (GRCm39)	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,296,637 (GRCm39)		probably null	Het
Zfp687	A	G	3: 94,918,767 (GRCm39)	I335T	probably damaging	Het
Zfpm1	A	G	8: 123,061,227 (GRCm39)	Y264C	probably damaging	Het

Other mutations in Gnb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Gnb3	APN	6	124,814,218 (GRCm39)	missense	probably damaging	0.98
IGL01707:Gnb3	APN	6	124,816,652 (GRCm39)	missense	possibly damaging	0.56
IGL02412:Gnb3	APN	6	124,814,425 (GRCm39)	missense	probably benign	0.23
IGL02606:Gnb3	APN	6	124,814,378 (GRCm39)	missense	probably benign	0.01
IGL02627:Gnb3	APN	6	124,811,678 (GRCm39)	missense	probably damaging	0.98
IGL02669:Gnb3	APN	6	124,814,688 (GRCm39)	missense	probably benign	0.17
R0026:Gnb3	UTSW	6	124,814,380 (GRCm39)	missense	probably benign	0.00
R0445:Gnb3	UTSW	6	124,814,218 (GRCm39)	missense	possibly damaging	0.92
R0538:Gnb3	UTSW	6	124,812,659 (GRCm39)	nonsense	probably null
R1801:Gnb3	UTSW	6	124,812,599 (GRCm39)	missense	probably benign	0.13
R4074:Gnb3	UTSW	6	124,813,942 (GRCm39)	missense	probably benign
R6715:Gnb3	UTSW	6	124,814,691 (GRCm39)	missense	possibly damaging	0.94
R7146:Gnb3	UTSW	6	124,813,887 (GRCm39)	critical splice donor site	probably null
R7689:Gnb3	UTSW	6	124,814,183 (GRCm39)	missense	possibly damaging	0.82
R7884:Gnb3	UTSW	6	124,814,055 (GRCm39)	missense	probably benign	0.00
R8198:Gnb3	UTSW	6	124,814,000 (GRCm39)	missense	probably benign	0.10
R8529:Gnb3	UTSW	6	124,814,633 (GRCm39)	missense	probably benign	0.32
X0017:Gnb3	UTSW	6	124,814,031 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACACGCTCGCACTTCAGAGAGTC -3'
(R):5'- ATCACTGGCCGAAGGAGCTACAAG -3'

Sequencing Primer
(F):5'- CAGTTGAAGTCATCATAGCCTGC -3'
(R):5'- GAACACAGTCAGTTAACGACTTCG -3'

Posted On

2013-05-29