Incidental Mutation 'IGL02669:Gnb3'
ID302855
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 #IGL02669
Quality Score
Status
Chromosome6
Chromosomal Location124834240-124840275 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124837725 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 70 (L70P)
Ref Sequence ENSEMBL: ENSMUSP00000024206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023958] [ENSMUST00000024206] [ENSMUST00000024270] [ENSMUST00000135127]
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 benign
Transcript: ENSMUST00000024206
AA Change: L70P

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439
AA Change: L70P

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 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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A G 6: 48,931,473 Y469C probably damaging Het
A930003A15Rik T A 16: 19,883,755 noncoding transcript Het
Acap1 G A 11: 69,894,595 probably benign Het
Adam7 T C 14: 68,507,894 Y627C probably damaging Het
Agrn C T 4: 156,174,561 probably benign Het
Bace2 T C 16: 97,436,893 *515R probably null Het
Baiap3 C T 17: 25,244,348 V958M probably damaging Het
Brms1l A T 12: 55,841,616 D63V probably damaging Het
Cnksr1 A T 4: 134,230,463 I435N probably damaging Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Cpne6 A G 14: 55,513,826 N201S probably benign Het
Dnajc12 A G 10: 63,397,292 S71G probably damaging Het
Dpp3 A T 19: 4,923,682 probably null Het
E2f3 A G 13: 29,916,991 S239P probably benign Het
Eif3e T A 15: 43,282,692 M1L probably benign Het
Erap1 A G 13: 74,675,868 T867A probably benign Het
Erlin1 G T 19: 44,039,219 A260E probably damaging Het
Esrp1 A G 4: 11,386,324 V38A possibly damaging Het
Foxn1 T C 11: 78,371,160 R128G probably damaging Het
Gon4l T C 3: 88,895,499 V1139A probably damaging Het
Gpt2 G T 8: 85,523,279 M463I probably benign Het
Gtpbp3 C A 8: 71,490,902 A201D probably damaging Het
Jaml A C 9: 45,104,191 K331T possibly damaging Het
Kntc1 G A 5: 123,755,664 probably benign Het
Ksr2 A G 5: 117,555,381 K298R probably damaging Het
Mfge8 T C 7: 79,145,681 D46G probably benign Het
Ncam2 T A 16: 81,517,541 N468K probably benign Het
Nup88 A G 11: 70,956,284 M300T probably damaging Het
Olfr1223 T A 2: 89,144,220 K268* probably null Het
Olfr1298 A T 2: 111,645,891 Y35* probably null Het
Olfr547 A G 7: 102,535,661 M305V probably benign Het
Prdm1 A T 10: 44,439,884 M752K probably benign Het
Prl3b1 A T 13: 27,245,812 M78L probably benign Het
Ralgps2 T C 1: 156,832,698 E268G probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Slc4a5 A G 6: 83,263,543 D279G possibly damaging Het
Tanc1 T A 2: 59,799,986 I770K probably damaging Het
Tbl2 G A 5: 135,152,998 R64H probably damaging Het
Tg T A 15: 66,748,726 probably benign Het
Tmprss13 A T 9: 45,332,526 I187F probably benign Het
Tubb3 T C 8: 123,421,117 L263P probably damaging Het
Vmn2r109 T G 17: 20,554,256 D279A possibly damaging Het
Vps33b A G 7: 80,276,038 probably benign Het
Yeats2 A G 16: 20,186,283 S338G probably benign Het
Zfp142 T C 1: 74,571,273 Q1121R probably benign Het
Zic1 G T 9: 91,364,433 H195Q possibly damaging Het
Other mutations in Gnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Gnb3 APN 6 124837255 missense probably damaging 0.98
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
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
R7884:Gnb3 UTSW 6 124837092 missense probably benign 0.00
R8198:Gnb3 UTSW 6 124837037 missense probably benign 0.10
X0017:Gnb3 UTSW 6 124837068 missense probably damaging 1.00
Posted On2015-04-16