Incidental Mutation 'IGL01061:Rab32'
ID 52031
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 # IGL01061
Quality Score
Status
Chromosome 10
Chromosomal Location 10420783-10433951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10433618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 72 (L72P)
Ref Sequence ENSEMBL: ENSMUSP00000152210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019974] [ENSMUST00000220018]
AlphaFold Q9CZE3
Predicted Effect probably benign
Transcript: ENSMUST00000019974
AA Change: L72P

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: L72P

DomainStartEndE-ValueType
RAB 24 193 3.44e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220018
AA Change: L72P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ankfy1 T A 11: 72,619,686 (GRCm39) C186* probably null Het
Ankmy1 A T 1: 92,798,696 (GRCm39) probably benign Het
B3gnt2 T A 11: 22,786,042 (GRCm39) E382V probably damaging Het
Carmil3 T G 14: 55,736,087 (GRCm39) S610A possibly damaging Het
Cfap70 T C 14: 20,497,693 (GRCm39) probably benign Het
Chek1 G A 9: 36,625,815 (GRCm39) R277C possibly damaging Het
Cpb1 T A 3: 20,320,680 (GRCm39) I92L probably benign Het
Ddx56 C T 11: 6,214,671 (GRCm39) probably null Het
Dicer1 A T 12: 104,672,586 (GRCm39) M887K probably null Het
Dnajc18 A G 18: 35,813,995 (GRCm39) probably benign Het
Dock2 A G 11: 34,596,653 (GRCm39) V401A probably damaging Het
Dock4 A C 12: 40,752,968 (GRCm39) N434T probably benign Het
Dync2i1 C A 12: 116,193,324 (GRCm39) A543S probably benign Het
Ehbp1l1 A T 19: 5,767,916 (GRCm39) M1129K probably benign Het
Fam83a A T 15: 57,849,771 (GRCm39) Y105F possibly damaging Het
Fnbp1 C A 2: 30,973,054 (GRCm39) D70Y probably damaging Het
Gtf3c2 A G 5: 31,325,698 (GRCm39) F414L possibly damaging Het
Kndc1 A T 7: 139,502,610 (GRCm39) E965D probably benign Het
Lrrc66 T C 5: 73,772,842 (GRCm39) K209E probably benign Het
Mcm3 A T 1: 20,884,720 (GRCm39) I261N possibly damaging Het
Mier3 T A 13: 111,850,970 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,720 (GRCm39) E669G probably damaging Het
Myh1 T A 11: 67,108,688 (GRCm39) M1368K probably benign Het
Nav1 A G 1: 135,378,368 (GRCm39) I1653T probably damaging Het
Nuak1 C A 10: 84,210,998 (GRCm39) L363F probably damaging Het
Or14j2 A G 17: 37,885,795 (GRCm39) I173T possibly damaging Het
Or52b1 A G 7: 104,978,589 (GRCm39) I270T possibly damaging Het
Or9i1 T C 19: 13,840,069 (GRCm39) V304A possibly damaging Het
Pkd1l3 A G 8: 110,365,338 (GRCm39) H1153R probably damaging Het
Poglut3 A G 9: 53,299,887 (GRCm39) probably benign Het
Ppp6r2 A T 15: 89,170,218 (GRCm39) probably benign Het
Prelid3b T C 2: 174,307,614 (GRCm39) probably null Het
Prrt3 T C 6: 113,474,731 (GRCm39) K164E possibly damaging Het
Rab22a T A 2: 173,530,003 (GRCm39) D60E probably damaging Het
Samm50 A G 15: 84,086,455 (GRCm39) T225A probably benign Het
Snx27 T A 3: 94,436,287 (GRCm39) probably benign Het
Taf7 G A 18: 37,776,486 (GRCm39) T27M probably damaging Het
Tgm5 A T 2: 120,901,977 (GRCm39) C231S probably benign Het
Tll1 A G 8: 64,491,488 (GRCm39) probably null Het
Tmem150a A G 6: 72,334,101 (GRCm39) D61G probably damaging Het
Ttll8 G A 15: 88,801,453 (GRCm39) R412C possibly damaging Het
Ubr3 T A 2: 69,813,569 (GRCm39) D1293E probably benign Het
Utp20 T C 10: 88,606,566 (GRCm39) N1669D probably benign Het
Vmn2r28 A G 7: 5,491,183 (GRCm39) W355R probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfhx2 T A 14: 55,311,339 (GRCm39) N452Y possibly damaging Het
Zfp180 T G 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Other mutations in Rab32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Rab32 APN 10 10,426,556 (GRCm39) missense probably benign 0.07
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
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