Incidental Mutation 'IGL01071:Rab32'
ID 52049
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01071
Quality Score
Status
Chromosome 10
Chromosomal Location 10420783-10433951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10433591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 81 (A81V)
Ref Sequence ENSEMBL: ENSMUSP00000152210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019974] [ENSMUST00000220018]
AlphaFold Q9CZE3
Predicted Effect probably damaging
Transcript: ENSMUST00000019974
AA Change: A81V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: A81V

DomainStartEndE-ValueType
RAB 24 193 3.44e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220018
AA Change: A81V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,930,137 (GRCm39) D124A probably damaging Het
Arhgef17 C A 7: 100,534,907 (GRCm39) V1137L probably damaging Het
Birc6 A G 17: 74,873,127 (GRCm39) D462G possibly damaging Het
Birc6 A T 17: 74,938,696 (GRCm39) N2701Y probably damaging Het
Cadps C T 14: 12,509,091 (GRCm38) probably null Het
Camk2a T C 18: 61,113,228 (GRCm39) probably null Het
Capn10 T A 1: 92,872,797 (GRCm39) W508R probably damaging Het
Cntn3 A T 6: 102,397,212 (GRCm39) probably null Het
Crisp4 A G 1: 18,207,231 (GRCm39) V19A probably benign Het
Depdc1b A T 13: 108,493,975 (GRCm39) Y121F probably benign Het
Dsg1b T A 18: 20,542,272 (GRCm39) S926R probably damaging Het
Eml6 A G 11: 29,800,816 (GRCm39) probably null Het
Gm26938 A C 5: 139,794,228 (GRCm39) V117G possibly damaging Het
Keg1 T A 19: 12,696,364 (GRCm39) Y183N probably damaging Het
Mpi A T 9: 57,457,875 (GRCm39) I109N probably damaging Het
Or12j3 C T 7: 139,953,098 (GRCm39) A142T probably benign Het
Or13a20 C T 7: 140,232,827 (GRCm39) H312Y possibly damaging Het
Or14a259 T C 7: 86,012,768 (GRCm39) K259R possibly damaging Het
Or4c112 A G 2: 88,853,519 (GRCm39) V276A probably benign Het
Pcdhb20 A G 18: 37,637,738 (GRCm39) E88G possibly damaging Het
Pde6b G A 5: 108,567,581 (GRCm39) W290* probably null Het
Phf20 T A 2: 156,136,008 (GRCm39) probably null Het
Pkd1l1 A T 11: 8,798,921 (GRCm39) H1830Q probably benign Het
Proc T C 18: 32,256,770 (GRCm39) D299G probably damaging Het
Psmd14 A G 2: 61,630,407 (GRCm39) T306A probably benign Het
Samd14 G A 11: 94,912,294 (GRCm39) probably benign Het
Sh3rf1 T A 8: 61,678,993 (GRCm39) C12S probably damaging Het
Sipa1l3 C T 7: 29,023,645 (GRCm39) V663M possibly damaging Het
Slc2a5 A G 4: 150,205,190 (GRCm39) probably benign Het
Tasor T A 14: 27,164,579 (GRCm39) probably null Het
Tbkbp1 T C 11: 97,040,388 (GRCm39) I9V probably damaging Het
Trip10 C A 17: 57,561,332 (GRCm39) R196S possibly damaging Het
Vav1 T C 17: 57,606,176 (GRCm39) Y267H probably benign Het
Wdr1 T C 5: 38,687,410 (GRCm39) K207R probably benign Het
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
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
A5278:Rab32 UTSW 10 10,433,717 (GRCm39) missense possibly damaging 0.94
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
Posted On 2013-06-21