Incidental Mutation 'IGL02627:Gnb3'
ID 301132
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 # IGL02627
Quality Score
Status
Chromosome 6
Chromosomal Location 124811203-124817238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124811678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 329 (T329A)
Ref Sequence ENSEMBL: ENSMUSP00000024206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024206] [ENSMUST00000024270] [ENSMUST00000131847] [ENSMUST00000151674] [ENSMUST00000150120]
AlphaFold Q61011
Predicted Effect probably damaging
Transcript: ENSMUST00000024206
AA Change: T329A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439
AA Change: T329A

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: 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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,685,777 (GRCm39) K353M probably damaging Het
Arhgap32 T C 9: 32,157,302 (GRCm39) Y100H probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap418 G A 4: 10,898,039 (GRCm39) C207Y probably damaging Het
Ckap5 A T 2: 91,406,366 (GRCm39) N752I probably damaging Het
Dgkz T A 2: 91,769,055 (GRCm39) probably benign Het
Egfr T A 11: 16,819,346 (GRCm39) V292E probably damaging Het
Igkv3-2 A T 6: 70,675,810 (GRCm39) T40S probably damaging Het
Kcnq2 T C 2: 180,724,120 (GRCm39) probably benign Het
Mbip T C 12: 56,382,590 (GRCm39) Q292R probably benign Het
Mgat5b T C 11: 116,874,442 (GRCm39) Y625H probably damaging Het
Ms4a4d A T 19: 11,525,987 (GRCm39) E40D probably damaging Het
Naip1 T C 13: 100,562,156 (GRCm39) E1003G possibly damaging Het
Ncf2 G A 1: 152,686,759 (GRCm39) probably benign Het
Nfkbiz A G 16: 55,636,714 (GRCm39) V529A probably damaging Het
Osr2 A G 15: 35,300,600 (GRCm39) N52S possibly damaging Het
Prag1 A G 8: 36,606,593 (GRCm39) D778G possibly damaging Het
Rsl1d1 G T 16: 11,012,415 (GRCm39) A337E possibly damaging Het
Sall3 A T 18: 81,015,576 (GRCm39) L784Q possibly damaging Het
Spen A G 4: 141,200,326 (GRCm39) I2744T probably damaging Het
Tfip11 A C 5: 112,477,679 (GRCm39) S145R possibly damaging Het
Tonsl T C 15: 76,518,295 (GRCm39) D559G probably damaging Het
Trmt5 A T 12: 73,328,229 (GRCm39) S325T probably damaging Het
Ubr1 A T 2: 120,771,472 (GRCm39) V472D probably damaging Het
Vmn1r30 T A 6: 58,412,746 (GRCm39) T29S probably benign Het
Vps29 T C 5: 122,500,908 (GRCm39) S158P probably benign Het
Wdr82 T C 9: 106,053,886 (GRCm39) V79A possibly damaging Het
Wfdc16 T A 2: 164,480,383 (GRCm39) E37D possibly damaging Het
Other mutations in Gnb3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16