Incidental Mutation 'R2427:Rab27b'
ID 250291
Institutional Source Beutler Lab
Gene Symbol Rab27b
Ensembl Gene ENSMUSG00000024511
Gene Name RAB27B, member RAS oncogene family
Synonyms B130064M09Rik, 2310021G14Rik
MMRRC Submission 040389-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2427 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 70112202-70274676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70129205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 30 (T30A)
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: T30A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
AA Change: T30A

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117692
AA Change: T30A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
AA Change: T30A

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121693
AA Change: T30A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
AA Change: T30A

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Meta Mutation Damage Score 0.1599 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy1 A G 1: 92,798,529 (GRCm39) probably null Het
Atp2a1 T A 7: 126,045,755 (GRCm39) *995L probably null Het
Axin2 T A 11: 108,814,800 (GRCm39) N229K possibly damaging Het
Capn13 A T 17: 73,633,312 (GRCm39) probably benign Het
Ccdc180 A G 4: 45,929,545 (GRCm39) I1202V probably benign Het
Cep295 A G 9: 15,245,534 (GRCm39) L974P probably damaging Het
Cers3 T C 7: 66,445,541 (GRCm39) Y321H probably benign Het
Chrnb4 T C 9: 54,942,101 (GRCm39) Y391C probably benign Het
Ciao1 T C 2: 127,088,611 (GRCm39) H104R probably damaging Het
Cldn4 A T 5: 134,975,331 (GRCm39) V90E probably damaging Het
Crbn T C 6: 106,760,433 (GRCm39) E253G probably damaging Het
Ctns A G 11: 73,087,512 (GRCm39) W5R probably damaging Het
Eme1 G A 11: 94,541,801 (GRCm39) probably benign Het
Fat2 T A 11: 55,201,638 (GRCm39) T479S probably benign Het
Fbxw25 T C 9: 109,481,928 (GRCm39) N253D probably benign Het
Fer A G 17: 64,264,298 (GRCm39) I39V probably benign Het
Fmnl2 A G 2: 53,006,991 (GRCm39) M768V probably damaging Het
Frg1 T C 8: 41,867,903 (GRCm39) K24E probably damaging Het
I830077J02Rik G T 3: 105,835,320 (GRCm39) A19D probably damaging Het
Ighv1-20 C T 12: 114,687,692 (GRCm39) silent Het
Igsf9 A G 1: 172,318,306 (GRCm39) S149G probably damaging Het
Klra10 T A 6: 130,256,298 (GRCm39) I119F probably benign Het
Lrrc4b T A 7: 44,111,976 (GRCm39) I616N probably damaging Het
Lrrc71 T C 3: 87,653,309 (GRCm39) T64A probably benign Het
Ly9 A T 1: 171,434,800 (GRCm39) I31N probably damaging Het
Mef2a A G 7: 66,915,808 (GRCm39) S165P probably damaging Het
Nol4 T G 18: 22,983,755 (GRCm39) probably benign Het
Nt5el T C 13: 105,246,269 (GRCm39) F277L probably benign Het
Plxnd1 C T 6: 115,944,709 (GRCm39) probably null Het
Rasa4 A G 5: 136,130,881 (GRCm39) D384G probably benign Het
Slx4 G A 16: 3,806,851 (GRCm39) L531F probably damaging Het
Tafa4 C T 6: 96,991,328 (GRCm39) probably benign Het
Tgm1 C T 14: 55,949,557 (GRCm39) probably null Het
Tpm2 T C 4: 43,523,306 (GRCm39) N17D probably damaging Het
Tyrp1 A G 4: 80,769,108 (GRCm39) T134A probably benign Het
Zfand6 T A 7: 84,283,498 (GRCm39) K35* probably null Het
Zfp648 G A 1: 154,080,819 (GRCm39) C326Y 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
R0701:Rab27b UTSW 18 70,118,270 (GRCm39) missense probably damaging 1.00
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
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'- AGAGATAGCGTCACTCAACG -3'
(R):5'- ACACTAGAGGCTTTTGAGGCTG -3'

Sequencing Primer
(F):5'- GAGATAGCGTCACTCAACGTTTTTC -3'
(R):5'- CCATACTTCTTCTACGCAG -3'
Posted On 2014-11-12