Incidental Mutation 'IGL01606:Gnb3'
ID 93425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnb3
Ensembl Gene ENSMUSG00000023439
Gene Name guanine nucleotide binding protein (G protein), beta 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01606
Quality Score
Status
Chromosome 6
Chromosomal Location 124811203-124817238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124814218 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000150120] [ENSMUST00000135127] [ENSMUST00000151674]
AlphaFold Q61011
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: ENSMUST00000135996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134637
Predicted Effect probably benign
Transcript: ENSMUST00000150120
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 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: 15,164,125 (GRCm39) D84G probably damaging Het
Adat3 A T 10: 80,443,172 (GRCm39) I337F probably damaging Het
Carmil3 T A 14: 55,731,306 (GRCm39) N128K possibly damaging Het
Ceacam2 T C 7: 25,230,132 (GRCm39) E158G possibly damaging Het
Cel T C 2: 28,450,576 (GRCm39) I150V probably benign Het
Chd5 A G 4: 152,445,432 (GRCm39) H441R probably damaging Het
Clic5 G T 17: 44,559,633 (GRCm39) R109L probably benign Het
Cpd T C 11: 76,703,466 (GRCm39) M466V probably benign Het
Cyp39a1 T A 17: 44,057,509 (GRCm39) probably benign Het
Dnah11 C A 12: 117,946,767 (GRCm39) A3106S probably benign Het
Fasn A C 11: 120,699,849 (GRCm39) probably null Het
Fat1 G A 8: 45,476,086 (GRCm39) V1688I probably benign Het
Fibcd1 A G 2: 31,723,865 (GRCm39) I258T probably benign Het
Frem2 C A 3: 53,561,012 (GRCm39) R1165I possibly damaging Het
Gm5627 C T 9: 102,626,685 (GRCm39) noncoding transcript Het
Gm5862 T A 5: 26,224,514 (GRCm39) T152S probably benign Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Klrb1 C A 6: 128,699,968 (GRCm39) E14D probably benign Het
Osbpl1a A T 18: 12,889,271 (GRCm39) D556E possibly damaging Het
Pkd1 T C 17: 24,795,497 (GRCm39) V2330A probably damaging Het
Pkdrej T C 15: 85,701,901 (GRCm39) K1345R possibly damaging Het
Plxna4 A G 6: 32,134,936 (GRCm39) F1756L probably damaging Het
Psg28 A C 7: 18,164,296 (GRCm39) S139A probably benign Het
Ptpru A T 4: 131,535,792 (GRCm39) I395N possibly damaging Het
Reps1 A G 10: 17,983,435 (GRCm39) E426G probably damaging Het
Rtp4 T A 16: 23,432,004 (GRCm39) S179T probably benign Het
Sh3pxd2a C A 19: 47,257,035 (GRCm39) R561L probably benign Het
Slc29a2 T A 19: 5,077,467 (GRCm39) L215Q possibly damaging Het
Slc44a4 T C 17: 35,147,994 (GRCm39) F653L probably damaging Het
Sulf1 G T 1: 12,906,428 (GRCm39) R490L possibly damaging Het
Ttll4 T C 1: 74,725,052 (GRCm39) L602P probably damaging Het
Ttn A G 2: 76,607,134 (GRCm39) V17963A probably damaging Het
Urb1 A G 16: 90,557,347 (GRCm39) S1760P probably damaging Het
Zmynd11 G A 13: 9,747,724 (GRCm39) R149W probably damaging Het
Other mutations in Gnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-09