Incidental Mutation 'R3441:Rab21'
ID 267392
Institutional Source Beutler Lab
Gene Symbol Rab21
Ensembl Gene ENSMUSG00000020132
Gene Name RAB21, member RAS oncogene family
Synonyms
MMRRC Submission 040659-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3441 (G1)
Quality Score 112
Status Not validated
Chromosome 10
Chromosomal Location 115125767-115151540 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) CCCGCCGCCGCCGCCGCC to CCCGCCGCCGCCGCC at 115151214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020343] [ENSMUST00000218831]
AlphaFold P35282
Predicted Effect probably benign
Transcript: ENSMUST00000020343
SMART Domains Protein: ENSMUSP00000020343
Gene: ENSMUSG00000020132

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
RAB 18 181 2.45e-73 SMART
low complexity region 214 222 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218348
Predicted Effect probably benign
Transcript: ENSMUST00000218831
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (34/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. Expression of this gene is associated with a poor prognosis for glioma patients. This gene is downregulated by the tumor suppressor miR-200b, and miRNA-200b is itself downregulated in glioma tissues. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,170,759 (GRCm39) probably benign Het
Ap5b1 A G 19: 5,620,011 (GRCm39) H477R probably benign Het
Asz1 A C 6: 18,108,405 (GRCm39) S68A probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Btnl6 T C 17: 34,727,292 (GRCm39) K413E probably benign Het
Cav3 G A 6: 112,449,402 (GRCm39) C140Y possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap91 T C 16: 38,154,168 (GRCm39) M126V probably benign Het
Clrn3 A C 7: 135,115,854 (GRCm39) Y165* probably null Het
Cp A T 3: 20,029,121 (GRCm39) M533L probably benign Het
Cyba C T 8: 123,151,803 (GRCm39) W103* probably null Het
Epha4 G T 1: 77,403,333 (GRCm39) N95K possibly damaging Het
Fsip2 A G 2: 82,817,071 (GRCm39) N4268S probably benign Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gtf3c6 T A 10: 40,127,169 (GRCm39) E123V probably null Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Hyal6 C T 6: 24,734,592 (GRCm39) A175V probably benign Het
Kif1a C T 1: 92,964,575 (GRCm39) D1334N possibly damaging Het
Krtap24-1 T C 16: 88,408,713 (GRCm39) T138A probably damaging Het
Mrc2 A T 11: 105,238,542 (GRCm39) T1230S possibly damaging Het
Mx1 T A 16: 97,257,431 (GRCm39) I109F probably damaging Het
Nav3 A G 10: 109,540,789 (GRCm39) F1947S probably benign Het
Or12e1 A G 2: 87,022,162 (GRCm39) I44V probably benign Het
Or6k2 A T 1: 173,986,746 (GRCm39) M136L probably benign Het
Plxnc1 G A 10: 94,706,872 (GRCm39) T555I probably benign Het
Rag2 T A 2: 101,460,645 (GRCm39) F318L probably damaging Het
Scgb2b24 G T 7: 33,438,025 (GRCm39) F27L probably damaging Het
Tchh A T 3: 93,352,414 (GRCm39) D618V unknown Het
Teddm1b A G 1: 153,751,007 (GRCm39) E272G probably benign Het
Tenm4 A T 7: 96,202,723 (GRCm39) M88L probably benign Het
Tfpi2 A T 6: 3,965,504 (GRCm39) Y103N probably benign Het
Tmem98 A G 11: 80,705,125 (GRCm39) N71S probably damaging Het
Vmn1r181 A G 7: 23,684,308 (GRCm39) I258V probably benign Het
Other mutations in Rab21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03117:Rab21 APN 10 115,151,097 (GRCm39) critical splice donor site probably null
IGL03232:Rab21 APN 10 115,130,767 (GRCm39) splice site probably benign
IGL03282:Rab21 APN 10 115,134,803 (GRCm39) splice site probably benign
R0285:Rab21 UTSW 10 115,126,768 (GRCm39) missense probably benign 0.00
R0368:Rab21 UTSW 10 115,134,795 (GRCm39) missense probably damaging 1.00
R1893:Rab21 UTSW 10 115,126,805 (GRCm39) missense probably benign
R2965:Rab21 UTSW 10 115,130,814 (GRCm39) missense probably benign 0.10
R2966:Rab21 UTSW 10 115,130,814 (GRCm39) missense probably benign 0.10
R6216:Rab21 UTSW 10 115,130,831 (GRCm39) missense probably benign 0.03
R6978:Rab21 UTSW 10 115,134,766 (GRCm39) missense possibly damaging 0.82
R7794:Rab21 UTSW 10 115,134,762 (GRCm39) nonsense probably null
R8895:Rab21 UTSW 10 115,151,080 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCCAAAGCGATTGCAAAAGG -3'
(R):5'- CGCAAAGATCAGCTCCTTCC -3'

Sequencing Primer
(F):5'- AGGGGGTTTGACAGGCC -3'
(R):5'- AGGATTCCCGGGATGCTGAG -3'
Posted On 2015-02-18