Incidental Mutation 'R7146:Gnb3'
ID 553785
Institutional Source Beutler Lab
Gene Symbol Gnb3
Ensembl Gene ENSMUSG00000023439
Gene Name guanine nucleotide binding protein (G protein), beta 3
Synonyms
MMRRC Submission 045251-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7146 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 124811203-124817238 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 124813887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000024206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023958] [ENSMUST00000024206] [ENSMUST00000024270] [ENSMUST00000131847] [ENSMUST00000135127] [ENSMUST00000150120] [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 null
Transcript: ENSMUST00000024206
SMART Domains Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439

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 probably benign
Transcript: ENSMUST00000131847
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: ENSMUST00000150120
Predicted Effect probably benign
Transcript: ENSMUST00000151674
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 95% (99/104)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,854,520 (GRCm39) I895F probably benign Het
Abca16 A G 7: 120,126,974 (GRCm39) N1222D possibly damaging Het
Abcc4 A T 14: 118,852,593 (GRCm39) Y499N probably damaging Het
Adgrg7 A C 16: 56,550,605 (GRCm39) C702W probably damaging Het
Adk C A 14: 21,376,682 (GRCm39) P27H Het
Ankrd13a T C 5: 114,913,293 (GRCm39) S2P probably damaging Het
Ano1 T C 7: 144,209,393 (GRCm39) H269R probably benign Het
Aox3 T A 1: 58,197,688 (GRCm39) probably null Het
Asl G A 5: 130,053,290 (GRCm39) probably benign Het
Asxl2 A T 12: 3,507,066 (GRCm39) D86V probably damaging Het
Ate1 A T 7: 130,083,508 (GRCm39) probably null Het
Bach2 A G 4: 32,562,670 (GRCm39) D379G probably damaging Het
Bdkrb1 T A 12: 105,571,142 (GRCm39) L236Q probably damaging Het
Cacna2d3 T C 14: 29,443,654 (GRCm39) Y24C unknown Het
Cage1 G T 13: 38,207,025 (GRCm39) N273K probably benign Het
Ccdc51 T A 9: 108,920,848 (GRCm39) I245N probably damaging Het
Cep152 T C 2: 125,456,325 (GRCm39) I229V probably benign Het
Chst4 T A 8: 110,757,363 (GRCm39) S167C probably damaging Het
Cntnap4 A T 8: 113,537,268 (GRCm39) Y713F probably damaging Het
Cntnap5b G A 1: 99,978,519 (GRCm39) probably null Het
Cog8 G T 8: 107,779,005 (GRCm39) T424K possibly damaging Het
Cop1 T G 1: 159,071,922 (GRCm39) probably null Het
Cyp2j6 A G 4: 96,434,019 (GRCm39) I97T probably damaging Het
D430041D05Rik T C 2: 104,088,698 (GRCm39) T131A probably benign Het
Dnah17 T C 11: 117,972,936 (GRCm39) D1999G probably damaging Het
Dnah8 A G 17: 30,863,591 (GRCm39) D250G probably benign Het
Dnah8 T C 17: 30,988,618 (GRCm39) V3196A possibly damaging Het
Dscam A T 16: 96,631,117 (GRCm39) Y299* probably null Het
Efcab3 A G 11: 104,858,578 (GRCm39) N3879S unknown Het
Efcab3 A C 11: 104,913,764 (GRCm39) D4594A probably benign Het
Ephb1 A G 9: 101,841,157 (GRCm39) S774P probably damaging Het
Fat1 G A 8: 45,403,962 (GRCm39) V238I probably benign Het
Fermt1 C T 2: 132,776,785 (GRCm39) M234I probably benign Het
Fmnl2 C T 2: 52,958,552 (GRCm39) S212L Het
Frem1 T C 4: 82,840,532 (GRCm39) N1798S possibly damaging Het
Gabrd T A 4: 155,469,863 (GRCm39) M449L probably benign Het
Gad1 T C 2: 70,417,706 (GRCm39) F302L probably benign Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Gm21886 GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA GGGCCTGTAGACAGTAGGTGCTCA 18: 80,132,697 (GRCm39) probably benign Het
Gtf3c1 A T 7: 125,271,993 (GRCm39) M642K possibly damaging Het
Hps3 A T 3: 20,063,050 (GRCm39) W838R probably damaging Het
Ide A T 19: 37,273,343 (GRCm39) W527R Het
Ighe A T 12: 113,235,975 (GRCm39) I117N Het
Ighv1-50 T C 12: 115,083,396 (GRCm39) E108G probably benign Het
Ivl G A 3: 92,479,538 (GRCm39) P176S probably damaging Het
Lamb2 T A 9: 108,361,283 (GRCm39) L605Q possibly damaging Het
Lgi3 G A 14: 70,770,832 (GRCm39) R157H probably damaging Het
Lrp1b G T 2: 41,266,006 (GRCm39) C1053* probably null Het
Mcpt9 A T 14: 56,264,445 (GRCm39) S217T probably damaging Het
Mgat4c T G 10: 102,224,357 (GRCm39) N190K probably damaging Het
Mknk1 T A 4: 115,721,789 (GRCm39) V111D probably damaging Het
Mmp11 T C 10: 75,764,280 (GRCm39) T62A probably benign Het
Mmp1b C A 9: 7,385,014 (GRCm39) V212F probably damaging Het
Mmp7 A G 9: 7,697,587 (GRCm39) probably null Het
Muc5b C T 7: 141,417,704 (GRCm39) T3550M possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nphp3 A T 9: 103,882,036 (GRCm39) K169* probably null Het
Npy6r G T 18: 44,408,788 (GRCm39) V70F probably benign Het
Nsun2 T A 13: 69,774,672 (GRCm39) probably null Het
Oplah T A 15: 76,186,860 (GRCm39) I652F probably benign Het
Pcdh18 T C 3: 49,710,271 (GRCm39) N348S probably damaging Het
Pcdhb5 T A 18: 37,454,409 (GRCm39) V263D probably damaging Het
Pcdhga1 C A 18: 37,795,164 (GRCm39) T56N probably benign Het
Pdk4 A G 6: 5,491,068 (GRCm39) probably null Het
Pfkp C A 13: 6,652,817 (GRCm39) V434F probably benign Het
Phospho1 G A 11: 95,721,732 (GRCm39) R134H probably damaging Het
Polg2 G T 11: 106,663,572 (GRCm39) Q374K probably benign Het
Ptpra T C 2: 130,379,571 (GRCm39) probably null Het
Rassf3 C T 10: 121,252,052 (GRCm39) E120K probably benign Het
Reln A T 5: 22,311,095 (GRCm39) S273T probably damaging Het
Scarb1 C T 5: 125,361,089 (GRCm39) A133T probably benign Het
Scn3a T A 2: 65,313,486 (GRCm39) K1142N probably damaging Het
Sema3c G A 5: 17,899,701 (GRCm39) V398I probably benign Het
Serpine1 C A 5: 137,099,918 (GRCm39) Q80H probably damaging Het
Sh3gl1 G A 17: 56,324,646 (GRCm39) T334M probably damaging Het
Smg7 T C 1: 152,737,576 (GRCm39) N122D probably benign Het
Speer4b T C 5: 27,703,708 (GRCm39) I144V probably benign Het
Spire2 T A 8: 124,095,989 (GRCm39) D671E probably benign Het
Sspo A T 6: 48,478,029 (GRCm39) H5144L probably benign Het
Sstr2 A T 11: 113,516,179 (GRCm39) Q366L probably damaging Het
Ssu72 T C 4: 155,815,850 (GRCm39) F98S probably damaging Het
Syde2 C T 3: 145,712,870 (GRCm39) Q1003* probably null Het
Tapbp G A 17: 34,144,461 (GRCm39) A186T possibly damaging Het
Tcf12 T A 9: 71,790,385 (GRCm39) probably null Het
Tnfrsf22 A T 7: 143,194,556 (GRCm39) C124S probably damaging Het
Txlnb A T 10: 17,703,546 (GRCm39) T235S possibly damaging Het
Uaca T C 9: 60,777,695 (GRCm39) L694P probably damaging Het
Unc13a T A 8: 72,083,197 (GRCm39) N1620Y probably damaging Het
Vmn2r10 C T 5: 109,151,200 (GRCm39) C138Y probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r28 T A 7: 5,484,495 (GRCm39) E568D probably benign Het
Vmn2r57 A T 7: 41,097,895 (GRCm39) H57Q possibly damaging Het
Vwa5b1 A G 4: 138,308,923 (GRCm39) S756P probably benign Het
Washc5 C A 15: 59,224,350 (GRCm39) E470* probably null Het
Xpot A T 10: 121,442,678 (GRCm39) V508D probably damaging Het
Zfp616 A T 11: 73,976,087 (GRCm39) K785N possibly damaging Het
Zfp653 T C 9: 21,977,195 (GRCm39) N119D probably damaging Het
Zfp729b A G 13: 67,741,495 (GRCm39) S257P probably damaging Het
Zfp82 T A 7: 29,755,592 (GRCm39) T497S probably benign Het
Znrf4 T G 17: 56,819,305 (GRCm39) M1L probably benign 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
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
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'- GACCTAAGTGTGACTGAGTGGG -3'
(R):5'- CAGCAGAAGACAGTGTTTGTGG -3'

Sequencing Primer
(F):5'- CACGTGTATGTCTGAAGCAAGTG -3'
(R):5'- ACTCTTCATTTCGGGAGC -3'
Posted On 2019-05-15