Incidental Mutation 'R5380:Rab27b'
ID 425826
Institutional Source Beutler Lab
Gene Symbol Rab27b
Ensembl Gene ENSMUSG00000024511
Gene Name RAB27B, member RAS oncogene family
Synonyms B130064M09Rik, 2310021G14Rik
MMRRC Submission 042955-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5380 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 70112202-70274676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70129226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 23 (T23A)
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: T23A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
AA Change: T23A

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117692
AA Change: T23A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
AA Change: T23A

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121693
AA Change: T23A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
AA Change: T23A

DomainStartEndE-ValueType
RAB 10 184 4.81e-81 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A T 4: 40,177,848 (GRCm39) I290F probably damaging Het
Cfap107 A T 4: 144,150,372 (GRCm39) W70R probably damaging Het
Cmip T A 8: 118,149,629 (GRCm39) C155S probably damaging Het
Cyba G T 8: 123,153,718 (GRCm39) P82T possibly damaging Het
Dgkb C T 12: 38,177,299 (GRCm39) R202W possibly damaging Het
Dnah6 T C 6: 73,014,598 (GRCm39) E3611G probably damaging Het
Dnah7b A T 1: 46,256,351 (GRCm39) S1885C probably benign Het
Dop1b A G 16: 93,560,298 (GRCm39) E748G probably damaging Het
Dusp18 C A 11: 3,847,037 (GRCm39) P9Q probably damaging Het
Fat4 T A 3: 38,943,013 (GRCm39) D635E probably damaging Het
Fbxo25 T A 8: 13,971,886 (GRCm39) S79R probably benign Het
Fgfr4 T A 13: 55,315,230 (GRCm39) L675Q probably damaging Het
Foxo1 T A 3: 52,176,446 (GRCm39) L75Q probably damaging Het
Fsip2 T C 2: 82,805,742 (GRCm39) V687A possibly damaging Het
Gga3 G T 11: 115,479,257 (GRCm39) P354Q probably damaging Het
Gm11077 A T 6: 140,675,048 (GRCm39) K13N unknown Het
Haus4 T A 14: 54,787,232 (GRCm39) K75M probably damaging Het
Igfn1 G A 1: 135,893,825 (GRCm39) T2085M probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Lims1 A T 10: 58,252,492 (GRCm39) I321L probably damaging Het
Ms4a6b A T 19: 11,499,044 (GRCm39) I53F probably damaging Het
Msl3l2 A G 10: 55,991,668 (GRCm39) D131G probably damaging Het
Nrap A G 19: 56,370,035 (GRCm39) V189A probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pfkl T G 10: 77,833,423 (GRCm39) I260L possibly damaging Het
Pkd2l1 A G 19: 44,146,171 (GRCm39) Y128H probably benign Het
Prpf6 T A 2: 181,250,059 (GRCm39) L73Q probably damaging Het
R3hdm2 T C 10: 127,321,316 (GRCm39) V658A probably damaging Het
Rabif A G 1: 134,433,980 (GRCm39) E98G probably damaging Het
Ror2 T C 13: 53,271,185 (GRCm39) D378G possibly damaging Het
Spata21 A G 4: 140,834,496 (GRCm39) T494A probably damaging Het
Ssh2 A G 11: 77,344,771 (GRCm39) K919E probably benign Het
Tnrc6b C G 15: 80,763,766 (GRCm39) P423A possibly damaging Het
Tomm40 A G 7: 19,435,675 (GRCm39) F352L probably benign Het
Tsg101 A T 7: 46,540,868 (GRCm39) D158E probably damaging Het
Tspo2 A G 17: 48,755,780 (GRCm39) F93L probably benign Het
V1ra8 T A 6: 90,180,004 (GRCm39) I69K probably damaging Het
Zan T C 5: 137,456,102 (GRCm39) T1353A unknown Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp281 A G 1: 136,553,676 (GRCm39) K218R possibly 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
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'- GGTTCATGTGATAAAACAACCCAGAC -3'
(R):5'- ATGCATAGAGCTGCTTTGGC -3'

Sequencing Primer
(F):5'- CCCGAAAATCTATTCCCACT -3'
(R):5'- CATTTTGGCACACTAGAGGC -3'
Posted On 2016-08-04