Incidental Mutation 'R9315:Rab33b'
ID 705825
Institutional Source Beutler Lab
Gene Symbol Rab33b
Ensembl Gene ENSMUSG00000027739
Gene Name RAB33B, member RAS oncogene family
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R9315 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 51391387-51403649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 51401000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 158 (V158G)
Ref Sequence ENSEMBL: ENSMUSP00000063054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054387]
AlphaFold O35963
PDB Structure GppNHp-Bound Rab33 GTPase [X-RAY DIFFRACTION]
Crystal Structure of Gyp1 TBC domain in complex with Rab33 GTPase bound to GDP and AlF3 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000054387
AA Change: V158G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063054
Gene: ENSMUSG00000027739
AA Change: V158G

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
RAB 34 202 1.94e-85 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 C T 11: 94,265,576 (GRCm39) R153H possibly damaging Het
Ankrd17 G A 5: 90,398,360 (GRCm39) S1730L probably damaging Het
Ano3 T C 2: 110,528,287 (GRCm39) E509G probably damaging Het
Cacna2d4 G T 6: 119,213,670 (GRCm39) A30S probably benign Het
Clec4e A G 6: 123,263,214 (GRCm39) S109P probably damaging Het
Coa7 T A 4: 108,195,581 (GRCm39) L170Q probably benign Het
Col1a2 T A 6: 4,540,544 (GRCm39) I1334N unknown Het
Col6a3 A G 1: 90,738,979 (GRCm39) probably null Het
Cyp2j6 A G 4: 96,420,035 (GRCm39) I232T probably benign Het
Ddx52 T A 11: 83,837,033 (GRCm39) S175T probably benign Het
Dnah11 G A 12: 118,143,341 (GRCm39) S434F probably benign Het
Epn1 T C 7: 5,096,339 (GRCm39) V211A probably benign Het
Fads2b C A 2: 85,319,188 (GRCm39) K371N probably benign Het
Glb1 A G 9: 114,285,548 (GRCm39) N429S probably benign Het
Ifng A T 10: 118,278,588 (GRCm39) D83V probably damaging Het
Ints4 A G 7: 97,156,840 (GRCm39) probably benign Het
Lamb2 C T 9: 108,364,366 (GRCm39) R1102W possibly damaging Het
Ldlr T A 9: 21,644,782 (GRCm39) probably benign Het
Mdn1 T C 4: 32,760,911 (GRCm39) V4992A probably benign Het
Mrc1 T A 2: 14,248,969 (GRCm39) C168* probably null Het
Msantd5f3 A T 4: 73,575,280 (GRCm39) R320* probably null Het
Mug1 T A 6: 121,850,730 (GRCm39) V742D possibly damaging Het
Mxd1 T C 6: 86,627,926 (GRCm39) D204G probably damaging Het
Myo9b C A 8: 71,801,811 (GRCm39) A1322D possibly damaging Het
Nepn T A 10: 52,267,869 (GRCm39) I45N probably benign Het
Or13a22 T C 7: 140,072,935 (GRCm39) I128T probably damaging Het
Or14c46 A T 7: 85,918,495 (GRCm39) C167* probably null Het
Or4d5 T C 9: 40,012,270 (GRCm39) D172G probably benign Het
Paip1 A G 13: 119,586,516 (GRCm39) E271G probably benign Het
Pcnx2 T C 8: 126,614,119 (GRCm39) N444S probably benign Het
Pdcd6ip T C 9: 113,488,921 (GRCm39) T705A possibly damaging Het
Pik3r1 A G 13: 101,894,166 (GRCm39) M1T probably null Het
Rab6a A G 7: 100,281,017 (GRCm39) I120V probably benign Het
Radil G T 5: 142,474,254 (GRCm39) H731N probably damaging Het
Rbm4b T C 19: 4,812,028 (GRCm39) S146P probably damaging Het
Rrn3 T C 16: 13,606,690 (GRCm39) Y99H probably benign Het
Saxo4 T A 19: 10,458,767 (GRCm39) S88C probably damaging Het
Syne1 G T 10: 5,283,553 (GRCm39) T1504K possibly damaging Het
Tas1r2 A G 4: 139,381,046 (GRCm39) Y56C possibly damaging Het
Tmprss3 T C 17: 31,403,644 (GRCm39) I386V probably null Het
Tns1 A G 1: 73,980,141 (GRCm39) C11R Het
Wdr11 A G 7: 129,208,264 (GRCm39) T340A probably benign Het
Zbtb49 A G 5: 38,358,082 (GRCm39) S724P probably benign Het
Zfp446 A G 7: 12,713,397 (GRCm39) K221R probably benign Het
Other mutations in Rab33b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02756:Rab33b APN 3 51,391,945 (GRCm39) missense probably damaging 1.00
R0012:Rab33b UTSW 3 51,391,737 (GRCm39) start gained probably benign
R0690:Rab33b UTSW 3 51,400,838 (GRCm39) missense probably damaging 1.00
R1027:Rab33b UTSW 3 51,391,876 (GRCm39) missense probably damaging 1.00
R3151:Rab33b UTSW 3 51,401,069 (GRCm39) missense possibly damaging 0.83
R5259:Rab33b UTSW 3 51,392,033 (GRCm39) unclassified probably benign
R5387:Rab33b UTSW 3 51,400,876 (GRCm39) missense probably damaging 1.00
R5650:Rab33b UTSW 3 51,400,837 (GRCm39) missense probably damaging 1.00
R5997:Rab33b UTSW 3 51,391,900 (GRCm39) missense possibly damaging 0.80
R6318:Rab33b UTSW 3 51,400,826 (GRCm39) missense probably damaging 0.99
R6640:Rab33b UTSW 3 51,391,900 (GRCm39) missense possibly damaging 0.80
R8443:Rab33b UTSW 3 51,401,050 (GRCm39) missense probably damaging 1.00
R8493:Rab33b UTSW 3 51,391,795 (GRCm39) missense probably benign 0.18
Z1177:Rab33b UTSW 3 51,391,755 (GRCm39) start codon destroyed probably null 0.01
Predicted Primers PCR Primer
(F):5'- CATGGTCCAGCACTACTACAGG -3'
(R):5'- TATGACTCAGCACCAGCAAG -3'

Sequencing Primer
(F):5'- CTACTACAGGAATGTGCATGCTGTC -3'
(R):5'- TTTCAGGCTAATTCTGTTATCAGGC -3'
Posted On 2022-03-25