Incidental Mutation 'R5685:Rab17'
ID 443259
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 # R5685 (G1)
Quality Score 184
Status Not validated
Chromosome 1
Chromosomal Location 90885855-90897383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90886679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 191 (R191L)
Ref Sequence ENSEMBL: ENSMUSP00000122178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027529] [ENSMUST00000130042] [ENSMUST00000131428] [ENSMUST00000166281]
AlphaFold P35292
Predicted Effect probably benign
Transcript: ENSMUST00000027529
AA Change: R191L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027529
Gene: ENSMUSG00000026304
AA Change: R191L

DomainStartEndE-ValueType
RAB 21 183 2.17e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128226
Predicted Effect probably benign
Transcript: ENSMUST00000130042
SMART Domains Protein: ENSMUSP00000114240
Gene: ENSMUSG00000026304

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: R191L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122178
Gene: ENSMUSG00000026304
AA Change: R191L

DomainStartEndE-ValueType
RAB 21 183 2.17e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135819
Predicted Effect probably benign
Transcript: ENSMUST00000166281
SMART Domains Protein: ENSMUSP00000130768
Gene: ENSMUSG00000090550

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Prolactin_RP 23 67 1.5e-30 PFAM
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,879,974 (GRCm39) probably benign Het
Abcb5 A T 12: 118,896,348 (GRCm39) probably null Het
Abcg1 G T 17: 31,317,260 (GRCm39) E191* probably null Het
Als2 A G 1: 59,218,250 (GRCm39) Y1263H possibly damaging Het
Amer2 T A 14: 60,617,026 (GRCm39) L281* probably null Het
Anxa6 T C 11: 54,887,196 (GRCm39) N361D probably benign Het
Ap1g1 A T 8: 110,564,415 (GRCm39) N320I probably damaging Het
Aqr T C 2: 113,986,746 (GRCm39) D208G possibly damaging Het
Arnt2 T C 7: 83,912,473 (GRCm39) T545A probably benign Het
Aspm G A 1: 139,415,026 (GRCm39) V2701I probably benign Het
Atad2 A G 15: 57,980,194 (GRCm39) V106A possibly damaging Het
Bbs2 A C 8: 94,814,061 (GRCm39) F186V probably damaging Het
Catsperg2 G A 7: 29,400,613 (GRCm39) P247L probably damaging Het
Cfap57 G T 4: 118,426,656 (GRCm39) Q1098K probably benign Het
Cxcr6 A G 9: 123,639,811 (GRCm39) T271A probably benign Het
Dock1 A G 7: 134,374,091 (GRCm39) E579G probably benign Het
Frem3 A G 8: 81,421,932 (GRCm39) T2111A probably damaging Het
Galnt1 A T 18: 24,397,586 (GRCm39) D229V possibly damaging Het
Gbp2b A C 3: 142,313,919 (GRCm39) M400L probably benign Het
Gm1123 T A 9: 98,891,486 (GRCm39) probably null Het
Gtpbp6 T C 5: 110,252,805 (GRCm39) H349R probably damaging Het
Hyal5 A G 6: 24,876,691 (GRCm39) K188R probably benign Het
Insrr T C 3: 87,707,803 (GRCm39) probably null Het
Kcnn1 A T 8: 71,305,374 (GRCm39) C322S probably damaging Het
Kdelr1 GTCTA G 7: 45,531,041 (GRCm39) probably null Het
Kif23 T C 9: 61,852,691 (GRCm39) T8A probably benign Het
Lrrk2 A T 15: 91,687,504 (GRCm39) R2198* probably null Het
Mcl1 T G 3: 95,567,109 (GRCm39) D177E possibly damaging Het
Mrps11 A T 7: 78,441,628 (GRCm39) T137S probably benign Het
Mtbp A G 15: 55,426,168 (GRCm39) Y90C probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nxt1 G T 2: 148,517,673 (GRCm39) W138L possibly damaging Het
Or5al1 T C 2: 85,990,139 (GRCm39) T192A probably damaging Het
Or5h17 T A 16: 58,820,709 (GRCm39) F220L probably benign Het
Or5t17 T A 2: 86,832,621 (GRCm39) S103T probably benign Het
Osbpl7 C A 11: 96,951,103 (GRCm39) P478H probably damaging Het
Phf8-ps T A 17: 33,285,746 (GRCm39) H352L probably benign Het
Pitpna T A 11: 75,511,095 (GRCm39) F222I probably damaging Het
Plekhh2 A T 17: 84,877,310 (GRCm39) R552W probably damaging Het
Plxnb2 C T 15: 89,051,235 (GRCm39) R328H probably damaging Het
Pmaip1 C T 18: 66,594,055 (GRCm39) T65I probably benign Het
Ppil4 T G 10: 7,674,186 (GRCm39) I110S probably damaging Het
Prpf38a A G 4: 108,427,351 (GRCm39) probably null Het
Psme4 G A 11: 30,759,837 (GRCm39) G320D probably damaging Het
Rhag A T 17: 41,142,222 (GRCm39) M222L possibly damaging Het
Rims2 A T 15: 39,300,602 (GRCm39) H111L possibly damaging Het
Setx T C 2: 29,061,292 (GRCm39) Y2234H probably damaging Het
Slc2a8 T C 2: 32,871,801 (GRCm39) I51V possibly damaging Het
Slc34a1 T C 13: 55,549,085 (GRCm39) probably null Het
Slf1 T C 13: 77,231,598 (GRCm39) T594A possibly damaging Het
Sox6 A T 7: 115,178,392 (GRCm39) probably null Het
Spata13 C T 14: 60,928,652 (GRCm39) S70L probably benign Het
Stard13 A G 5: 150,986,592 (GRCm39) I188T possibly damaging Het
Stard9 A G 2: 120,535,803 (GRCm39) D4020G probably damaging Het
Tdp1 A G 12: 99,868,611 (GRCm39) K255R possibly damaging Het
Tns2 G T 15: 102,015,538 (GRCm39) A124S probably benign Het
Top2b T A 14: 16,413,666 (GRCm38) W1045R probably damaging Het
Trav12-2 T C 14: 53,854,122 (GRCm39) V32A probably damaging Het
Vps13c G T 9: 67,870,455 (GRCm39) R3198L possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp52 T A 17: 21,782,013 (GRCm39) S620R probably benign Het
Zfp62 T A 11: 49,107,044 (GRCm39) C378* probably null Het
Zfp638 C A 6: 83,906,969 (GRCm39) P378H probably damaging 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
R2389:Rab17 UTSW 1 90,891,926 (GRCm39) missense probably benign 0.09
R5031:Rab17 UTSW 1 90,887,860 (GRCm39) splice site probably null
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'- GCAGATTTGCCACAAAGACG -3'
(R):5'- AAGCTGAACTACCAGGTGTC -3'

Sequencing Primer
(F):5'- ATTTGCCACAAAGACGTAGTAGC -3'
(R):5'- CTGAACTACCAGGTGTCTGAGATC -3'
Posted On 2016-11-09