Incidental Mutation 'R6754:Rab27b'
ID 530978
Institutional Source Beutler Lab
Gene Symbol Rab27b
Ensembl Gene ENSMUSG00000024511
Gene Name RAB27B, member RAS oncogene family
Synonyms B130064M09Rik, 2310021G14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6754 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 70112202-70274676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70129174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 40 (T40I)
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: T40I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
AA Change: T40I

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117692
AA Change: T40I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
AA Change: T40I

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121693
AA Change: T40I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
AA Change: T40I

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.2%
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
Acsbg3 T C 17: 57,190,358 (GRCm39) F352L probably damaging Het
Acta2 T C 19: 34,222,383 (GRCm39) D246G probably damaging Het
Ank2 A G 3: 126,890,488 (GRCm39) probably benign Het
Bmpr2 T A 1: 59,909,439 (GRCm39) I971N probably damaging Het
C9 C A 15: 6,519,424 (GRCm39) C8* probably null Het
Casp2 T A 6: 42,246,264 (GRCm39) N207K probably damaging Het
Cd302 T G 2: 60,102,451 (GRCm39) D56A probably benign Het
Cecr2 C T 6: 120,734,539 (GRCm39) P605S probably damaging Het
Cep152 A G 2: 125,429,588 (GRCm39) V723A probably damaging Het
Col17a1 C T 19: 47,639,160 (GRCm39) probably null Het
Ctsk T C 3: 95,409,996 (GRCm39) V168A probably damaging Het
Cyp2c54 A T 19: 40,060,004 (GRCm39) N176K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
F5 A G 1: 164,021,332 (GRCm39) D1269G probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Hivep2 G A 10: 14,005,382 (GRCm39) G660D probably benign Het
Hspb3 A T 13: 113,799,688 (GRCm39) I114K probably damaging Het
Irag1 G A 7: 110,528,719 (GRCm39) P43S probably damaging Het
Itgb7 T G 15: 102,124,595 (GRCm39) *807C probably null Het
Kbtbd2 A G 6: 56,756,239 (GRCm39) V499A probably damaging Het
Lemd3 A T 10: 120,769,565 (GRCm39) I589N probably damaging Het
Mettl13 T C 1: 162,375,692 (GRCm39) Y45C probably damaging Het
Mllt6 C T 11: 97,565,273 (GRCm39) T571I probably damaging Het
Nabp1 A G 1: 51,513,699 (GRCm39) I99T probably damaging Het
Ndufa4 A G 6: 11,906,052 (GRCm39) V33A probably benign Het
Nr1h5 A G 3: 102,856,913 (GRCm39) S200P probably damaging Het
Ntsr1 G A 2: 180,184,476 (GRCm39) R393H probably benign Het
Obi1 C T 14: 104,740,850 (GRCm39) E191K probably damaging Het
Or14j4 T C 17: 37,921,046 (GRCm39) N199D probably benign Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Pcdhb21 A T 18: 37,647,736 (GRCm39) K288N probably benign Het
Pla2g6 T C 15: 79,190,510 (GRCm39) N351D probably benign Het
Polg T C 7: 79,109,584 (GRCm39) E411G probably damaging Het
Prdm11 A G 2: 92,844,137 (GRCm39) L31P probably damaging Het
Ruvbl2 T C 7: 45,078,182 (GRCm39) D97G probably benign Het
Saxo4 A T 19: 10,454,453 (GRCm39) Y328N probably damaging Het
Sema3a T C 5: 13,649,243 (GRCm39) V664A possibly damaging Het
Sh2d3c T C 2: 32,644,542 (GRCm39) S842P probably damaging Het
Spam1 A G 6: 24,796,315 (GRCm39) T89A probably damaging Het
Stab1 C T 14: 30,863,038 (GRCm39) G2187E probably benign Het
Tff2 C A 17: 31,363,207 (GRCm39) A6S probably benign Het
Trim80 T C 11: 115,339,000 (GRCm39) V610A probably damaging Het
Trp53bp1 A G 2: 121,101,057 (GRCm39) V47A possibly damaging Het
Ufl1 G A 4: 25,267,796 (GRCm39) Q292* probably null Het
Ulk1 A T 5: 110,938,259 (GRCm39) V571E possibly damaging Het
Usp24 A T 4: 106,217,617 (GRCm39) N447Y probably damaging Het
Vmn1r81 A T 7: 11,993,774 (GRCm39) I278K 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
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
R8926:Rab27b UTSW 18 70,129,144 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGTGTGCTTTTGAAGACAAGAG -3'
(R):5'- TTCTGAAAGCATGCAGAGTGAATC -3'

Sequencing Primer
(F):5'- GAGATAGCGTCACTCAACGTTTTTC -3'
(R):5'- GCATGCAGAGTGAATCAACTTTAACC -3'
Posted On 2018-08-01