Incidental Mutation 'R1406:Rab32'
ID 160391
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 # R1406 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 10420783-10433951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10426637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 103 (V103A)
Ref Sequence ENSEMBL: ENSMUSP00000019974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019974] [ENSMUST00000220018]
AlphaFold Q9CZE3
Predicted Effect probably damaging
Transcript: ENSMUST00000019974
AA Change: V103A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: V103A

DomainStartEndE-ValueType
RAB 24 193 3.44e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220018
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.2%
  • 10x: 92.2%
  • 20x: 76.0%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T C 14: 78,750,189 (GRCm39) T733A probably benign Het
Antxrl A G 14: 33,794,999 (GRCm39) N476D possibly damaging Het
Armc8 G T 9: 99,405,301 (GRCm39) P268Q probably benign Het
Asb8 C A 15: 98,034,304 (GRCm39) G84C probably damaging Het
BC035044 A T 6: 128,862,047 (GRCm39) probably null Het
Caprin1 A G 2: 103,606,332 (GRCm39) F303L probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Ctdspl2 G A 2: 121,837,349 (GRCm39) R371Q probably damaging Het
Dctn4 T A 18: 60,689,402 (GRCm39) D431E probably benign Het
Dhx40 T C 11: 86,688,571 (GRCm39) E284G probably benign Het
Dhx9 A G 1: 153,340,684 (GRCm39) V652A probably damaging Het
Fnip2 G T 3: 79,415,398 (GRCm39) N213K possibly damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Itch A G 2: 155,048,274 (GRCm39) E546G possibly damaging Het
Map3k20 A T 2: 72,219,838 (GRCm39) I257F probably damaging Het
Mdc1 C T 17: 36,164,424 (GRCm39) T1324I probably benign Het
Mertk T C 2: 128,613,406 (GRCm39) I474T probably benign Het
Nav3 A G 10: 109,719,495 (GRCm39) V156A possibly damaging Het
Nbea A G 3: 55,944,702 (GRCm39) V554A probably benign Het
Or10z1 T A 1: 174,078,427 (GRCm39) E22V possibly damaging Het
Or13c7c C T 4: 43,835,582 (GRCm39) V303M possibly damaging Het
Or4f57 A G 2: 111,790,926 (GRCm39) V164A probably benign Het
Pask A G 1: 93,249,373 (GRCm39) Y676H probably benign Het
Pcare T C 17: 72,056,156 (GRCm39) N1174D probably benign Het
Rp1 T C 1: 4,422,144 (GRCm39) E262G possibly damaging Het
Rtn4 A G 11: 29,658,236 (GRCm39) T797A probably benign Het
Sall1 A T 8: 89,759,072 (GRCm39) I344K probably benign Het
Scnn1b T C 7: 121,501,767 (GRCm39) probably null Het
Slc7a2 G T 8: 41,358,622 (GRCm39) G322W probably damaging Het
Snx29 A G 16: 11,217,657 (GRCm39) M153V probably benign Het
Sp110 T G 1: 85,506,800 (GRCm39) E421A probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Ush1c A C 7: 45,874,965 (GRCm39) probably null Het
Vmn2r8 C T 5: 108,950,234 (GRCm39) M204I probably benign Het
Zfp839 C T 12: 110,832,744 (GRCm39) T554M probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCAGTGAAGCCAGCTCACCTTG -3'
(R):5'- ATTGTCAGCCACTTCTGCTAAGTCC -3'

Sequencing Primer
(F):5'- CTTGGCAGAGGTTTCAAACCATC -3'
(R):5'- GTGTGAAAGTCCTTAATTCCACCAG -3'
Posted On 2014-03-14