Incidental Mutation 'A5278:Rab32'
ID 74
Institutional Source Beutler Lab
Gene Symbol Rab32
Ensembl Gene ENSMUSG00000019832
Gene Name RAB32, member RAS oncogene family
Synonyms 2810011A17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # A5278 of strain 453
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 10420783-10433951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10433717 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CZE3
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 0.5697 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: 144,235,227 (GRCm39) S18* probably null Het
Kif17 T C 4: 138,015,261 (GRCm39) V278A probably benign Homo
Myo3a A G 2: 22,328,464 (GRCm39) T353A probably benign Het
Pbk T A 14: 66,051,388 (GRCm39) I142N probably damaging Het
Rhou G T 8: 124,387,730 (GRCm39) C154F probably damaging Het
Slc4a1 A G 11: 102,244,641 (GRCm39) probably benign Het
Tdrd7 C T 4: 46,007,622 (GRCm39) T558M probably benign Homo
Other mutations in Rab32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Rab32 APN 10 10,426,556 (GRCm39) missense probably benign 0.07
IGL01061:Rab32 APN 10 10,433,618 (GRCm39) missense probably damaging 0.99
IGL01071:Rab32 APN 10 10,433,591 (GRCm39) missense probably damaging 1.00
IGL02193:Rab32 APN 10 10,422,199 (GRCm39) splice site probably benign
IGL02814:Rab32 APN 10 10,422,171 (GRCm39) missense probably benign
IGL03233:Rab32 APN 10 10,422,057 (GRCm39) nonsense probably null
R0135:Rab32 UTSW 10 10,426,584 (GRCm39) missense probably damaging 1.00
R0514:Rab32 UTSW 10 10,426,640 (GRCm39) missense probably damaging 1.00
R0826:Rab32 UTSW 10 10,426,611 (GRCm39) missense possibly damaging 0.95
R1406:Rab32 UTSW 10 10,426,637 (GRCm39) missense probably damaging 1.00
R1406:Rab32 UTSW 10 10,426,637 (GRCm39) missense probably damaging 1.00
R2045:Rab32 UTSW 10 10,426,577 (GRCm39) missense probably damaging 1.00
R4701:Rab32 UTSW 10 10,426,598 (GRCm39) missense probably benign 0.04
R6665:Rab32 UTSW 10 10,433,846 (GRCm39) start gained probably benign
R7880:Rab32 UTSW 10 10,422,159 (GRCm39) missense probably damaging 1.00
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 On 2010-01-05