Incidental Mutation 'R2497:Rab27a'
ID 251076
Institutional Source Beutler Lab
Gene Symbol Rab27a
Ensembl Gene ENSMUSG00000032202
Gene Name RAB27A, member RAS oncogene family
Synonyms 2410003M20Rik, 4933437C11Rik, 2210402C08Rik
MMRRC Submission 040411-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.474) question?
Stock # R2497 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72952136-73004911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72992263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 97 (L97P)
Ref Sequence ENSEMBL: ENSMUSP00000139310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034722] [ENSMUST00000184146]
AlphaFold Q9ERI2
Predicted Effect probably damaging
Transcript: ENSMUST00000034722
AA Change: L97P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034722
Gene: ENSMUSG00000032202
AA Change: L97P

DomainStartEndE-ValueType
RAB 10 184 9.9e-92 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184146
AA Change: L97P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139310
Gene: ENSMUSG00000032202
AA Change: L97P

DomainStartEndE-ValueType
RAB 10 184 9.9e-92 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184575
Meta Mutation Damage Score 0.9665 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the Rab family of proteins, which is the largest family within the Ras superfamily of GTPases. This gene product is thought to regulate vesicular transport, together with its specific effectors. Mutations in this gene cause several defects, including actin-based melanosome transport defects and immunodeficiency. Mutations in the human ortholog of this gene are associated with Griscelli syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes have abnormal melanocyte development producing abnormal pigmentation and a gray coat color. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A G 14: 8,251,612 (GRCm38) V295A probably benign Het
Agrn T C 4: 156,258,268 (GRCm39) E959G probably benign Het
Aqp5 T C 15: 99,489,180 (GRCm39) F10L possibly damaging Het
Arhgap39 C A 15: 76,609,585 (GRCm39) V1025L probably damaging Het
Atg4d C T 9: 21,184,682 (GRCm39) R459* probably null Het
Atp11b A G 3: 35,909,294 (GRCm39) S1163G probably damaging Het
Atp13a5 G T 16: 29,157,889 (GRCm39) S173* probably null Het
Atp6v1g2 T A 17: 35,455,762 (GRCm39) I8N probably damaging Het
Ccdc77 C T 6: 120,302,433 (GRCm39) G430R possibly damaging Het
Cdc34b A G 11: 94,633,207 (GRCm39) T136A probably benign Het
Cdkal1 A G 13: 29,658,524 (GRCm39) S23P unknown Het
Cdkl2 T A 5: 92,156,857 (GRCm39) H566L probably benign Het
Cers6 T C 2: 68,901,790 (GRCm39) probably benign Het
Cfap251 T C 5: 123,421,432 (GRCm39) V98A probably damaging Het
Clspn A G 4: 126,466,140 (GRCm39) T557A possibly damaging Het
Cmya5 T C 13: 93,234,513 (GRCm39) T192A possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah17 T G 11: 117,977,850 (GRCm39) probably null Het
Dnah8 C T 17: 30,960,339 (GRCm39) Q2239* probably null Het
Dscaml1 T C 9: 45,656,376 (GRCm39) V1572A probably benign Het
Elfn2 C G 15: 78,558,464 (GRCm39) E28Q probably damaging Het
Enam T A 5: 88,650,553 (GRCm39) N687K probably benign Het
Flywch1 G A 17: 23,974,685 (GRCm39) R652W probably benign Het
Gm5612 T C 9: 18,338,975 (GRCm39) probably benign Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Mmp3 A G 9: 7,450,131 (GRCm39) T288A probably benign Het
Mtmr4 T A 11: 87,491,649 (GRCm39) F168L probably damaging Het
Mtres1 T C 10: 43,401,263 (GRCm39) probably benign Het
Myo1d T A 11: 80,565,647 (GRCm39) N393Y probably damaging Het
Nacc2 A T 2: 25,979,580 (GRCm39) Y285* probably null Het
Nf1 G T 11: 79,334,710 (GRCm39) G844V probably damaging Het
Nox4 T A 7: 86,945,084 (GRCm39) Y113* probably null Het
Pcdha3 T C 18: 37,080,556 (GRCm39) C433R probably benign Het
Pde6c A G 19: 38,142,142 (GRCm39) I358V probably damaging Het
Pdgfrb A T 18: 61,211,700 (GRCm39) D819V possibly damaging Het
Phf3 C A 1: 30,869,095 (GRCm39) R651L probably damaging Het
Prrx1 A G 1: 163,075,834 (GRCm39) V244A possibly damaging Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rnf20 G A 4: 49,652,676 (GRCm39) probably null Het
Sdad1 T C 5: 92,447,958 (GRCm39) N259S probably benign Het
Serpinb9d T C 13: 33,380,500 (GRCm39) S129P probably damaging Het
Slc1a4 T C 11: 20,282,620 (GRCm39) probably benign Het
Smyd2 T A 1: 189,617,534 (GRCm39) N300I possibly damaging Het
Snd1 A G 6: 28,888,078 (GRCm39) I875V probably benign Het
Ssh1 T C 5: 114,096,919 (GRCm39) N174S probably damaging Het
Stimate C T 14: 30,594,537 (GRCm39) L217F probably damaging Het
Tanc2 T C 11: 105,564,319 (GRCm39) probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tpcn1 C T 5: 120,677,063 (GRCm39) probably null Het
Unc45b A T 11: 82,827,269 (GRCm39) I699F probably damaging Het
Uspl1 C T 5: 149,124,664 (GRCm39) P27L probably damaging Het
Ylpm1 C G 12: 85,043,535 (GRCm39) P91R probably damaging Het
Zdhhc23 G A 16: 43,794,278 (GRCm39) T132M probably damaging Het
Zfp148 T C 16: 33,316,755 (GRCm39) Y434H probably damaging Het
Zhx2 T C 15: 57,686,551 (GRCm39) V640A possibly damaging Het
Other mutations in Rab27a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Rab27a APN 9 72,982,850 (GRCm39) critical splice donor site probably null
IGL02000:Rab27a APN 9 72,992,254 (GRCm39) missense probably damaging 1.00
concrete UTSW 9 72,989,690 (GRCm39) missense possibly damaging 0.89
geodude UTSW 9 72,992,263 (GRCm39) missense probably damaging 1.00
ivan UTSW 9 72,982,826 (GRCm39) missense probably damaging 0.99
R0644:Rab27a UTSW 9 73,002,705 (GRCm39) missense probably benign 0.01
R0671:Rab27a UTSW 9 72,982,715 (GRCm39) missense probably damaging 1.00
R1481:Rab27a UTSW 9 72,989,684 (GRCm39) missense probably benign 0.13
R1522:Rab27a UTSW 9 72,982,764 (GRCm39) missense probably damaging 1.00
R1531:Rab27a UTSW 9 73,002,685 (GRCm39) missense probably benign
R1634:Rab27a UTSW 9 72,982,851 (GRCm39) critical splice donor site probably null
R1950:Rab27a UTSW 9 72,982,751 (GRCm39) missense probably damaging 1.00
R4083:Rab27a UTSW 9 72,989,721 (GRCm39) missense probably damaging 0.96
R4094:Rab27a UTSW 9 72,982,826 (GRCm39) missense probably damaging 0.99
R5027:Rab27a UTSW 9 73,002,695 (GRCm39) missense probably benign 0.01
R5881:Rab27a UTSW 9 72,992,321 (GRCm39) splice site probably null
R6750:Rab27a UTSW 9 72,992,290 (GRCm39) missense probably damaging 1.00
R9281:Rab27a UTSW 9 72,992,278 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAGCTCCTCCTTTTGTGCCTTT -3'
(R):5'- TGGGGAAACCACACGTACTTATC -3'

Sequencing Primer
(F):5'- TACCTGGCTGCTGTTTCTTG -3'
(R):5'- ACCACACGTACTTATCCAGT -3'
Posted On 2014-12-04