Incidental Mutation 'R0445:Gnb3'
ID 39315
Institutional Source Beutler Lab
Gene Symbol Gnb3
Ensembl Gene ENSMUSG00000023439
Gene Name guanine nucleotide binding protein (G protein), beta 3
Synonyms
MMRRC Submission 038646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0445 (G1)
Quality Score 153
Status Validated
Chromosome 6
Chromosomal Location 124811203-124817238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124814218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 154 (D154G)
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 possibly damaging
Transcript: ENSMUST00000024206
AA Change: D154G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439
AA Change: D154G

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: ENSMUST00000140233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135996
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
Meta Mutation Damage Score 0.7280 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 100% (77/77)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A C 17: 48,400,542 (GRCm39) probably null Het
A2m C T 6: 121,634,914 (GRCm39) T687I probably damaging Het
Acsbg1 A G 9: 54,523,179 (GRCm39) S483P probably damaging Het
Adam22 T A 5: 8,230,591 (GRCm39) probably benign Het
Aggf1 A G 13: 95,490,509 (GRCm39) V595A possibly damaging Het
Aplf A T 6: 87,640,734 (GRCm39) L71I probably damaging Het
Arid3c G T 4: 41,725,172 (GRCm39) P292T probably benign Het
Bltp1 T C 3: 37,054,214 (GRCm39) V3111A probably damaging Het
Brms1l T A 12: 55,908,191 (GRCm39) Y213* probably null Het
C87436 T A 6: 86,426,832 (GRCm39) S332T possibly damaging Het
Cad G A 5: 31,230,053 (GRCm39) A1454T probably benign Het
Cdkn3 T C 14: 47,004,857 (GRCm39) probably null Het
Cnot1 A G 8: 96,486,836 (GRCm39) C624R probably damaging Het
Cntnap5c A T 17: 58,411,738 (GRCm39) I541F probably benign Het
Dennd1b A G 1: 139,095,503 (GRCm39) probably benign Het
Dscam A T 16: 96,573,703 (GRCm39) I753N probably damaging Het
Eef2 C CN 10: 81,014,604 (GRCm39) probably null Het
Epg5 T A 18: 78,057,399 (GRCm39) V1826D possibly damaging Het
Epha8 T C 4: 136,659,711 (GRCm39) Y755C probably damaging Het
Esco1 A T 18: 10,574,989 (GRCm39) N694K probably damaging Het
Fermt3 T C 19: 6,980,667 (GRCm39) H300R probably benign Het
Galnt5 C A 2: 57,888,962 (GRCm39) F187L probably benign Het
Gm17067 A G 7: 42,358,046 (GRCm39) I152T probably benign Het
Gpr155 G A 2: 73,200,488 (GRCm39) probably benign Het
Hdac3 A G 18: 38,076,777 (GRCm39) I240T probably damaging Het
Ifitm1 A T 7: 140,548,354 (GRCm39) probably null Het
Kif1b A T 4: 149,272,466 (GRCm39) L1455Q probably benign Het
Krt1 A C 15: 101,756,056 (GRCm39) L388R probably damaging Het
Lrp1 T A 10: 127,426,505 (GRCm39) K635* probably null Het
Map3k2 A G 18: 32,350,263 (GRCm39) Y371C probably damaging Het
Mcu T C 10: 59,292,467 (GRCm39) probably benign Het
Mkrn1 C T 6: 39,381,788 (GRCm39) V167I probably benign Het
Mrpl9 T A 3: 94,352,198 (GRCm39) probably benign Het
Naip2 T C 13: 100,298,395 (GRCm39) Y547C possibly damaging Het
Nup88 G A 11: 70,838,555 (GRCm39) T487I probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Obscn C T 11: 58,890,161 (GRCm39) R7457H unknown Het
Or13c25 G A 4: 52,910,849 (GRCm39) T315M probably benign Het
Or2y13 T A 11: 49,414,784 (GRCm39) V78E probably damaging Het
Paf1 T C 7: 28,095,113 (GRCm39) S118P probably damaging Het
Parp4 T A 14: 56,840,205 (GRCm39) probably null Het
Pcdh15 A T 10: 74,178,381 (GRCm39) Y157F probably damaging Het
Pex10 G A 4: 155,153,531 (GRCm39) probably null Het
Phrf1 C T 7: 140,827,244 (GRCm39) probably benign Het
Polr3a G T 14: 24,504,989 (GRCm39) D1090E probably benign Het
Ppfia4 A C 1: 134,255,027 (GRCm39) L276R probably benign Het
Rdh16f1 T C 10: 127,626,736 (GRCm39) L263S probably benign Het
Ryr3 T C 2: 112,696,399 (GRCm39) D967G probably benign Het
Shc1 G T 3: 89,333,844 (GRCm39) A226S probably damaging Het
Slc4a1 A G 11: 102,245,192 (GRCm39) V585A probably benign Het
Stk38l T A 6: 146,677,184 (GRCm39) S461T probably benign Het
Tbkbp1 A T 11: 97,040,295 (GRCm39) S40T probably damaging Het
Tet1 A G 10: 62,715,720 (GRCm39) M25T probably benign Het
Themis A G 10: 28,658,007 (GRCm39) R192G probably damaging Het
Tmem144 T C 3: 79,732,661 (GRCm39) T206A probably benign Het
Tmem74b G A 2: 151,548,879 (GRCm39) R202H probably damaging Het
Trpm1 T C 7: 63,894,590 (GRCm39) probably benign Het
Vars1 A G 17: 35,230,785 (GRCm39) H557R probably benign Het
Zbtb12 C A 17: 35,115,277 (GRCm39) A354E possibly damaging Het
Zfp143 A T 7: 109,660,324 (GRCm39) probably benign Het
Zftraf1 T C 15: 76,532,457 (GRCm39) H217R probably 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGTCCTGTCTCAATGTCCCACAAG -3'
(R):5'- CATGACCTGTGCCTATGCACCATC -3'

Sequencing Primer
(F):5'- ATGTCCCACAAGGCACTG -3'
(R):5'- ACCATCAGGGAACTTTGTGGC -3'
Posted On 2013-05-23