Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:Gnb3'

203131

Institutional Source

Beutler Lab

Gene Symbol

Gnb3

Ensembl Gene

ENSMUSG00000023439

Gene Name

guanine nucleotide binding protein (G protein), beta 3

Synonyms

MMRRC Submission

039831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124811203-124817238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 124812599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 286 (F286V)

Ref Sequence

ENSEMBL: ENSMUSP00000024206 (fasta)

Gene Model

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

AlphaFold

Q61011

Predicted Effect

probably benign
Transcript: ENSMUST00000024206
AA Change: F286V

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439
AA Change: F286V

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,230 (GRCm39)	E362G	probably damaging	Het
Abcc5	T	C	16: 20,157,637 (GRCm39)	M1307V	probably benign	Het
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Adamts9	A	G	6: 92,840,357 (GRCm39)	V1142A	probably benign	Het
Ano10	T	C	9: 122,082,096 (GRCm39)	N525S	probably damaging	Het
Bpifa2	T	C	2: 153,853,424 (GRCm39)		probably null	Het
C7	C	T	15: 5,041,503 (GRCm39)	V468I	possibly damaging	Het
Carf	A	T	1: 60,180,664 (GRCm39)	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,465,132 (GRCm39)	I37L	probably benign	Het
Ccdc182	T	C	11: 88,185,016 (GRCm39)	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,711,825 (GRCm39)	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,790,065 (GRCm39)	Y920F	unknown	Het
Cpsf3	T	C	12: 21,363,791 (GRCm39)	V627A	probably benign	Het
D7Ertd443e	A	G	7: 133,871,941 (GRCm39)	M640T	probably damaging	Het
Ddi2	T	C	4: 141,411,283 (GRCm39)	D543G	probably damaging	Het
Dnah9	T	C	11: 65,846,123 (GRCm39)	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,813,857 (GRCm39)	D304G	probably damaging	Het
Epg5	T	C	18: 78,026,705 (GRCm39)	V1232A	possibly damaging	Het
Ezr	T	C	17: 7,009,771 (GRCm39)	T358A	possibly damaging	Het
Filip1	A	G	9: 79,723,128 (GRCm39)	S1164P	probably damaging	Het
Gmip	T	C	8: 70,267,127 (GRCm39)	V341A	probably benign	Het
Gpatch2	T	A	1: 186,958,028 (GRCm39)	S128T	probably benign	Het
Gpr87	T	C	3: 59,086,813 (GRCm39)	R231G	possibly damaging	Het
Hip1r	G	A	5: 124,136,871 (GRCm39)	R613Q	probably benign	Het
Hsd3b7	T	C	7: 127,402,206 (GRCm39)	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,517,625 (GRCm39)	D275V	probably damaging	Het
Il4	G	T	11: 53,509,365 (GRCm39)	H23Q	possibly damaging	Het
Kit	A	G	5: 75,809,053 (GRCm39)	Y749C	probably damaging	Het
Klb	A	G	5: 65,506,578 (GRCm39)	K275R	probably null	Het
Klhl12	G	T	1: 134,416,808 (GRCm39)	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,628,689 (GRCm39)	Y345C	probably damaging	Het
Med15	T	C	16: 17,498,599 (GRCm39)	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,391 (GRCm39)	Y387N	probably damaging	Het
Myrf	C	A	19: 10,191,555 (GRCm39)	V928L	probably benign	Het
Nr1d1	T	C	11: 98,662,325 (GRCm39)	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,250,356 (GRCm39)	D305V	probably damaging	Het
Obscn	A	C	11: 58,889,147 (GRCm39)	S7542A	unknown	Het
Or4a27	T	A	2: 88,559,608 (GRCm39)	I112F	probably damaging	Het
Pak4	G	A	7: 28,264,615 (GRCm39)	R96C	probably damaging	Het
Pde6b	A	T	5: 108,575,713 (GRCm39)	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,221,601 (GRCm39)	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,740 (GRCm39)	V873I	possibly damaging	Het
Plb1	A	T	5: 32,450,587 (GRCm39)	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,913,904 (GRCm39)	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,393,885 (GRCm39)	C263R	probably damaging	Het
Psma2	A	T	13: 14,798,190 (GRCm39)	Y104F	probably benign	Het
Ptger4	T	A	15: 5,272,281 (GRCm39)	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,006,201 (GRCm39)	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,592,090 (GRCm39)	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Ryr2	T	C	13: 11,610,167 (GRCm39)	S655G	probably benign	Het
Samd4b	A	T	7: 28,106,756 (GRCm39)		probably null	Het
Sema4a	C	T	3: 88,344,056 (GRCm39)	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sh3gl3	C	T	7: 81,933,327 (GRCm39)	T230I	possibly damaging	Het
Slc28a2b	C	T	2: 122,352,133 (GRCm39)	R324C	possibly damaging	Het
Slc5a1	A	T	5: 33,304,297 (GRCm39)	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,939,606 (GRCm39)	H681N	probably benign	Het
Sugp2	T	C	8: 70,689,360 (GRCm39)	S10P	possibly damaging	Het
Supt5	A	G	7: 28,016,639 (GRCm39)		probably null	Het
Syna	A	G	5: 134,588,943 (GRCm39)	V2A	probably benign	Het
Tcp1	T	A	17: 13,141,089 (GRCm39)	Y299*	probably null	Het
Tenm3	C	A	8: 48,729,291 (GRCm39)	V1572L	probably benign	Het
Tent4b	T	G	8: 88,977,416 (GRCm39)	V406G	probably benign	Het
Trp53rka	A	G	2: 165,333,533 (GRCm39)	S119P	probably damaging	Het
Ubr4	T	A	4: 139,179,874 (GRCm39)		probably null	Het
Uchl4	T	A	9: 64,142,757 (GRCm39)	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,576,344 (GRCm39)	T405K	probably damaging	Het
Xpnpep1	A	G	19: 52,998,564 (GRCm39)	L228P	probably damaging	Het
Xrcc4	T	G	13: 90,140,698 (GRCm39)	E170D	probably damaging	Het
Zfp945	T	C	17: 23,070,736 (GRCm39)	T388A	probably damaging	Het
Zfp947	G	A	17: 22,365,443 (GRCm39)	A77V	probably benign	Het
Zkscan5	G	A	5: 145,157,015 (GRCm39)	G433R	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
R0006:Gnb3	UTSW	6	124,812,767 (GRCm39)	unclassified	probably benign
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
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'- AAAGGGTGTCGGTTCCCAAG -3'
(R):5'- AAATGGCTTATACACTCTTCCCCAG -3'

Sequencing Primer
(F):5'- AAGGCTCCTGTCAGGCAACAG -3'
(R):5'- GAGCCCTGACCTCTTCTTAACTG -3'

Posted On

2014-06-23