Incidental Mutation 'A5278:Rab32'
ID74
Institutional Source Beutler Lab
Gene Symbol Rab32
Ensembl Gene ENSMUSG00000019832
Gene NameRAB32, member RAS oncogene family
Synonyms2810011A17Rik
Accession Numbers

Genbank: NM_026405; MGI: 1915094

Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #A5278 of strain 453
Quality Score
Status Validated
Chromosome10
Chromosomal Location10545002-10558265 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 10557973 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 39 (I39T)
Ref Sequence ENSEMBL: ENSMUSP00000019974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019974] [ENSMUST00000220018]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019974
AA Change: I39T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: I39T

DomainStartEndE-ValueType
RAB 24 193 3.44e-59 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000220018
AA Change: I39T

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.27 question?
Coding Region Coverage
  • 1x: 88.2%
  • 3x: 73.8%
Validation Efficiency 87% (116/134)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Kat14 C A 2: 144,393,307 S18* probably null Het
Kif17 T C 4: 138,287,950 V278A probably benign Homo
Myo3a A G 2: 22,323,653 T353A probably benign Het
Pbk T A 14: 65,813,939 I142N probably damaging Het
Rhou G T 8: 123,660,991 C154F probably damaging Het
Slc4a1 A G 11: 102,353,815 probably benign Het
Tdrd7 C T 4: 46,007,622 T558M probably benign Homo
Other mutations in Rab32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Rab32 APN 10 10550812 missense probably benign 0.07
IGL01061:Rab32 APN 10 10557874 missense probably damaging 0.99
IGL01071:Rab32 APN 10 10557847 missense probably damaging 1.00
IGL02193:Rab32 APN 10 10546455 splice site probably benign
IGL02814:Rab32 APN 10 10546427 missense probably benign
IGL03233:Rab32 APN 10 10546313 nonsense probably null
R0135:Rab32 UTSW 10 10550840 missense probably damaging 1.00
R0514:Rab32 UTSW 10 10550896 missense probably damaging 1.00
R0826:Rab32 UTSW 10 10550867 missense possibly damaging 0.95
R1406:Rab32 UTSW 10 10550893 missense probably damaging 1.00
R1406:Rab32 UTSW 10 10550893 missense probably damaging 1.00
R2045:Rab32 UTSW 10 10550833 missense probably damaging 1.00
R4701:Rab32 UTSW 10 10550854 missense probably benign 0.04
R6665:Rab32 UTSW 10 10558102 start gained probably benign
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 235 of the Rab32 transcript. The mutated nucleotide causes an isoleucine to threonine substitution at amino acid 39 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Rab32 gene encodes a 223 amino acid protein that is a member of the Rab family of small GTPases. Rab32 acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A (PKA-RII) and anchoring it to the mitochondrion. It is also involved in the synchronization of mitochondrial fission. Amino acids involved in nucleotide binding are residues 30-37, 79-83, and 141-144. A GTPase effector region occurs at amino acids 52-60, and a PKA-RII binding domain is located at residues 176-195 (Uniprot Q9CZE3). 
 
The I39T change is predicted to be benign by the PolyPhen program.
Posted On2010-01-05