Incidental Mutation 'IGL01606:Gnb3'
ID93425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnb3
Ensembl Gene ENSMUSG00000023439
Gene Nameguanine nucleotide binding protein (G protein), beta 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01606
Quality Score
Status
Chromosome6
Chromosomal Location124834240-124840275 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 124837255 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 154 (D154V)
Ref Sequence ENSEMBL: ENSMUSP00000024206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023958] [ENSMUST00000024206] [ENSMUST00000024270] [ENSMUST00000131847] [ENSMUST00000135127] [ENSMUST00000150120] [ENSMUST00000151674]
Predicted Effect probably benign
Transcript: ENSMUST00000023958
SMART Domains Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 58 76 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 256 277 N/A INTRINSIC
P4Hc 460 670 8.51e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000024206
AA Change: D154V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439
AA Change: D154V

DomainStartEndE-ValueType
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: ENSMUST00000126987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129251
Predicted Effect probably benign
Transcript: ENSMUST00000131847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134637
Predicted Effect probably benign
Transcript: ENSMUST00000135127
SMART Domains Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 58 76 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 256 277 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140233
Predicted Effect probably benign
Transcript: ENSMUST00000150120
Predicted Effect probably benign
Transcript: ENSMUST00000151674
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 14,943,863 D84G probably damaging Het
Adat3 A T 10: 80,607,338 I337F probably damaging Het
Carmil3 T A 14: 55,493,849 N128K possibly damaging Het
Ceacam2 T C 7: 25,530,707 E158G possibly damaging Het
Cel T C 2: 28,560,564 I150V probably benign Het
Chd5 A G 4: 152,360,975 H441R probably damaging Het
Clic5 G T 17: 44,248,746 R109L probably benign Het
Cpd T C 11: 76,812,640 M466V probably benign Het
Cyp39a1 T A 17: 43,746,618 probably benign Het
Dnah11 C A 12: 117,983,032 A3106S probably benign Het
Fasn A C 11: 120,809,023 probably null Het
Fat1 G A 8: 45,023,049 V1688I probably benign Het
Fibcd1 A G 2: 31,833,853 I258T probably benign Het
Frem2 C A 3: 53,653,591 R1165I possibly damaging Het
Gm5627 C T 9: 102,749,486 noncoding transcript Het
Gm5862 T A 5: 26,019,516 T152S probably benign Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Klrb1 C A 6: 128,723,005 E14D probably benign Het
Osbpl1a A T 18: 12,756,214 D556E possibly damaging Het
Pkd1 T C 17: 24,576,523 V2330A probably damaging Het
Pkdrej T C 15: 85,817,700 K1345R possibly damaging Het
Plxna4 A G 6: 32,158,001 F1756L probably damaging Het
Psg28 A C 7: 18,430,371 S139A probably benign Het
Ptpru A T 4: 131,808,481 I395N possibly damaging Het
Reps1 A G 10: 18,107,687 E426G probably damaging Het
Rtp4 T A 16: 23,613,254 S179T probably benign Het
Sh3pxd2a C A 19: 47,268,596 R561L probably benign Het
Slc29a2 T A 19: 5,027,439 L215Q possibly damaging Het
Slc44a4 T C 17: 34,929,018 F653L probably damaging Het
Sulf1 G T 1: 12,836,204 R490L possibly damaging Het
Ttll4 T C 1: 74,685,893 L602P probably damaging Het
Ttn A G 2: 76,776,790 V17963A probably damaging Het
Urb1 A G 16: 90,760,459 S1760P probably damaging Het
Zmynd11 G A 13: 9,697,688 R149W probably damaging Het
Other mutations in Gnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Gnb3 APN 6 124839689 missense possibly damaging 0.56
IGL02412:Gnb3 APN 6 124837462 missense probably benign 0.23
IGL02606:Gnb3 APN 6 124837415 missense probably benign 0.01
IGL02627:Gnb3 APN 6 124834715 missense probably damaging 0.98
IGL02669:Gnb3 APN 6 124837725 missense probably benign 0.17
R0006:Gnb3 UTSW 6 124835804 unclassified probably benign
R0026:Gnb3 UTSW 6 124837417 missense probably benign 0.00
R0445:Gnb3 UTSW 6 124837255 missense possibly damaging 0.92
R0538:Gnb3 UTSW 6 124835696 nonsense probably null
R1801:Gnb3 UTSW 6 124835636 missense probably benign 0.13
R4074:Gnb3 UTSW 6 124836979 missense probably benign
R6715:Gnb3 UTSW 6 124837728 missense possibly damaging 0.94
R7146:Gnb3 UTSW 6 124836924 critical splice donor site probably null
R7689:Gnb3 UTSW 6 124837220 missense possibly damaging 0.82
X0017:Gnb3 UTSW 6 124837068 missense probably damaging 1.00
Posted On2013-12-09