Incidental Mutation 'R2389:Rab17'
ID 247717
Institutional Source Beutler Lab
Gene Symbol Rab17
Ensembl Gene ENSMUSG00000026304
Gene Name RAB17, member RAS oncogene family
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2389 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 90885855-90897383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90891926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 33 (T33A)
Ref Sequence ENSEMBL: ENSMUSP00000122178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027529] [ENSMUST00000130042] [ENSMUST00000131428]
AlphaFold P35292
Predicted Effect probably benign
Transcript: ENSMUST00000027529
AA Change: T33A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027529
Gene: ENSMUSG00000026304
AA Change: T33A

DomainStartEndE-ValueType
RAB 21 183 2.17e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128226
Predicted Effect probably benign
Transcript: ENSMUST00000130042
AA Change: T33A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114240
Gene: ENSMUSG00000026304
AA Change: T33A

DomainStartEndE-ValueType
Pfam:Arf 11 143 6.3e-17 PFAM
Pfam:Miro 21 135 4.2e-19 PFAM
Pfam:Gtr1_RagA 21 145 1.8e-7 PFAM
Pfam:Ras 21 145 4.2e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131428
AA Change: T33A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122178
Gene: ENSMUSG00000026304
AA Change: T33A

DomainStartEndE-ValueType
RAB 21 183 2.17e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135819
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 T C 2: 158,467,132 (GRCm39) V24A probably benign Het
Adrm1 C A 2: 179,816,116 (GRCm39) probably benign Het
Cdk13 T A 13: 17,926,361 (GRCm39) H813L probably damaging Het
Cdkal1 T A 13: 29,736,219 (GRCm39) H300L probably damaging Het
Cnksr1 T C 4: 133,961,057 (GRCm39) I235V probably benign Het
Ctnnd1 T A 2: 84,454,615 (GRCm39) Q11L probably null Het
Dync2h1 T C 9: 7,122,618 (GRCm39) I2113V possibly damaging Het
Eng T C 2: 32,547,684 (GRCm39) probably null Het
Gria2 A G 3: 80,609,932 (GRCm39) W626R probably damaging Het
Kctd1 A G 18: 15,195,268 (GRCm39) S452P possibly damaging Het
Kdm4c T C 4: 74,252,107 (GRCm39) probably null Het
Kntc1 C T 5: 123,919,255 (GRCm39) L845F probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Nat8f7 C A 6: 85,684,476 (GRCm39) M121I probably benign Het
Ppfibp1 A T 6: 146,923,669 (GRCm39) H667L probably damaging Het
Pramel31 T A 4: 144,089,983 (GRCm39) L341H probably damaging Het
Prss12 A G 3: 123,280,670 (GRCm39) N452D possibly damaging Het
Rxfp3 A G 15: 11,036,770 (GRCm39) C201R probably damaging Het
Spag17 A G 3: 100,014,153 (GRCm39) Y2142C probably benign Het
Stx6 T C 1: 155,073,164 (GRCm39) V225A possibly damaging Het
Ugt2b5 G A 5: 87,275,541 (GRCm39) P437S probably damaging Het
Usp13 A G 3: 32,959,613 (GRCm39) K568R probably benign Het
Zan A G 5: 137,474,642 (GRCm39) probably null Het
Zbtb8b T C 4: 129,327,066 (GRCm39) E33G probably benign Het
Zcchc17 T A 4: 130,220,997 (GRCm39) K185* probably null Het
Other mutations in Rab17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Rab17 APN 1 90,887,815 (GRCm39) missense probably damaging 0.98
IGL02672:Rab17 APN 1 90,886,940 (GRCm39) missense probably damaging 1.00
R2140:Rab17 UTSW 1 90,887,800 (GRCm39) missense probably benign 0.05
R5031:Rab17 UTSW 1 90,887,860 (GRCm39) splice site probably null
R5685:Rab17 UTSW 1 90,886,679 (GRCm39) missense probably benign 0.00
R6481:Rab17 UTSW 1 90,886,683 (GRCm39) missense probably benign 0.00
R9609:Rab17 UTSW 1 90,891,907 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCGTAGCAAAGGTTGTTT -3'
(R):5'- TGTGTGTTAGACTCACTGAGGT -3'

Sequencing Primer
(F):5'- GTGCATTTCCAGACAGTGTAC -3'
(R):5'- AGACTCACTGAGGTGGTTTGACC -3'
Posted On 2014-11-11