Incidental Mutation 'R0701:Rab27b'
ID 63038
Institutional Source Beutler Lab
Gene Symbol Rab27b
Ensembl Gene ENSMUSG00000024511
Gene Name RAB27B, member RAS oncogene family
Synonyms B130064M09Rik, 2310021G14Rik
MMRRC Submission 038884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0701 (G1)
Quality Score 83
Status Not validated
Chromosome 18
Chromosomal Location 70112202-70274676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70118270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 216 (C216S)
Ref Sequence ENSEMBL: ENSMUSP00000114094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069749] [ENSMUST00000117692] [ENSMUST00000121693]
AlphaFold Q99P58
Predicted Effect probably damaging
Transcript: ENSMUST00000069749
AA Change: C216S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
AA Change: C216S

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117692
AA Change: C216S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
AA Change: C216S

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121693
AA Change: C216S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
AA Change: C216S

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for one null allele exhibit impaired platelet aggregation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,571,995 (GRCm39) V261A probably benign Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Bach1 G A 16: 87,516,877 (GRCm39) E473K probably damaging Het
Bsph1 G T 7: 13,206,181 (GRCm39) C72F probably damaging Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
C9 A C 15: 6,496,902 (GRCm39) T200P probably damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Copg1 T A 6: 87,871,089 (GRCm39) Y268* probably null Het
Csad A G 15: 102,087,571 (GRCm39) S331P probably benign Het
Ddx31 G T 2: 28,748,789 (GRCm39) R239L probably null Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Fig4 T A 10: 41,116,508 (GRCm39) R628* probably null Het
Fmnl3 T C 15: 99,219,188 (GRCm39) N778S probably damaging Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Haus3 G A 5: 34,323,359 (GRCm39) T417M probably benign Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Hoxb3 C A 11: 96,237,074 (GRCm39) S384* probably null Het
Ifnar2 A G 16: 91,201,117 (GRCm39) T453A possibly damaging Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Lrriq1 A T 10: 103,069,905 (GRCm39) V37E probably benign Het
Lrrn4 G A 2: 132,712,080 (GRCm39) T581M probably benign Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Mdn1 T A 4: 32,699,263 (GRCm39) D1313E probably benign Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Mlh3 A T 12: 85,314,677 (GRCm39) I503K probably benign Het
Nckap5 A G 1: 125,953,094 (GRCm39) F1089L probably benign Het
Or1e35 A T 11: 73,797,655 (GRCm39) I221N probably damaging Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Pdgfd A T 9: 6,359,706 (GRCm39) D259V probably damaging Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Robo2 A G 16: 73,843,762 (GRCm39) I151T probably damaging Het
Sh2d4a A G 8: 68,783,747 (GRCm39) D227G probably damaging Het
Sis G T 3: 72,848,378 (GRCm39) T632K probably damaging Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Stap1 T C 5: 86,242,667 (GRCm39) probably null Het
Syt16 G A 12: 74,281,886 (GRCm39) V337I probably benign Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Ttn A G 2: 76,728,412 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp6nl A G 2: 6,419,829 (GRCm39) E144G possibly damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zap70 G A 1: 36,820,258 (GRCm39) R513Q probably damaging Het
Other mutations in Rab27b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Rab27b APN 18 70,129,138 (GRCm39) critical splice donor site probably null
IGL01387:Rab27b APN 18 70,118,380 (GRCm39) missense possibly damaging 0.95
IGL01395:Rab27b APN 18 70,118,288 (GRCm39) missense probably benign 0.11
IGL01863:Rab27b APN 18 70,122,625 (GRCm39) missense probably damaging 1.00
IGL03399:Rab27b APN 18 70,120,067 (GRCm39) missense possibly damaging 0.58
R0744:Rab27b UTSW 18 70,120,112 (GRCm39) splice site probably benign
R0833:Rab27b UTSW 18 70,120,112 (GRCm39) splice site probably benign
R0836:Rab27b UTSW 18 70,120,112 (GRCm39) splice site probably benign
R1797:Rab27b UTSW 18 70,122,617 (GRCm39) missense probably damaging 0.96
R2427:Rab27b UTSW 18 70,129,205 (GRCm39) missense probably damaging 1.00
R4978:Rab27b UTSW 18 70,127,585 (GRCm39) missense probably benign 0.02
R5133:Rab27b UTSW 18 70,122,659 (GRCm39) missense probably damaging 0.98
R5380:Rab27b UTSW 18 70,129,226 (GRCm39) missense probably damaging 0.99
R6264:Rab27b UTSW 18 70,122,659 (GRCm39) missense probably damaging 0.98
R6603:Rab27b UTSW 18 70,118,375 (GRCm39) missense probably damaging 0.97
R6754:Rab27b UTSW 18 70,129,174 (GRCm39) missense probably damaging 1.00
R8926:Rab27b UTSW 18 70,129,144 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGCATTCACAACAGTGAGATCACC -3'
(R):5'- TCGAAACAAGCGCAGCTACAGG -3'

Sequencing Primer
(F):5'- GAGATCACCTTAGGACAACTTTGC -3'
(R):5'- CGCAGCTACAGGACAGAATG -3'
Posted On 2013-07-30