Incidental Mutation 'R2965:Rab21'
ID 256031
Institutional Source Beutler Lab
Gene Symbol Rab21
Ensembl Gene ENSMUSG00000020132
Gene Name RAB21, member RAS oncogene family
Synonyms
MMRRC Submission 040521-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2965 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 115125767-115151540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115130814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 164 (N164S)
Ref Sequence ENSEMBL: ENSMUSP00000020343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020343]
AlphaFold P35282
Predicted Effect probably benign
Transcript: ENSMUST00000020343
AA Change: N164S

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020343
Gene: ENSMUSG00000020132
AA Change: N164S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Add1 C A 5: 34,788,058 (GRCm39) D702E probably benign Het
Aff3 A G 1: 38,248,791 (GRCm39) I772T probably damaging Het
Ankar T C 1: 72,714,979 (GRCm39) I382V probably benign Het
Anks1 A G 17: 28,272,879 (GRCm39) T925A probably benign Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Atp8a1 T C 5: 67,805,049 (GRCm39) D1022G probably benign Het
Cep250 A G 2: 155,836,798 (GRCm39) K2256E probably benign Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Cntln T C 4: 84,892,264 (GRCm39) probably null Het
Col13a1 G A 10: 61,797,110 (GRCm39) R106W probably damaging Het
Col2a1 A G 15: 97,873,976 (GRCm39) I1402T unknown Het
Col4a3 T C 1: 82,626,321 (GRCm39) L86P unknown Het
Cul9 A G 17: 46,813,154 (GRCm39) V2355A probably damaging Het
Ddx43 C A 9: 78,313,661 (GRCm39) Y197* probably null Het
Dnah7b T A 1: 46,246,732 (GRCm39) I1636N probably damaging Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Dyrk2 T A 10: 118,696,242 (GRCm39) K339* probably null Het
Fam187b A C 7: 30,677,154 (GRCm39) D221A probably benign Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fgd6 T A 10: 93,880,056 (GRCm39) F303L probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gm10784 A T 13: 50,099,233 (GRCm39) noncoding transcript Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Gria1 C T 11: 57,076,627 (GRCm39) Q8* probably null Het
H2-T22 A G 17: 36,351,537 (GRCm39) L231S probably damaging Het
Ice1 A T 13: 70,750,697 (GRCm39) D1796E probably benign Het
Ing1 T A 8: 11,611,641 (GRCm39) S26R probably benign Het
Klhl2 C T 8: 65,205,794 (GRCm39) V376M probably benign Het
Lrriq1 A G 10: 103,050,761 (GRCm39) S664P probably benign Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mgam T C 6: 40,745,154 (GRCm39) V1807A possibly damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Mycbp2 A G 14: 103,534,794 (GRCm39) V304A probably benign Het
Nek10 T C 14: 14,836,202 (GRCm38) L141P probably damaging Het
Noa1 T C 5: 77,454,191 (GRCm39) E483G possibly damaging Het
Or5b101 C T 19: 13,005,412 (GRCm39) A94T probably benign Het
Pkd1l1 T A 11: 8,824,236 (GRCm39) S1110C probably damaging Het
Potefam1 A T 2: 111,034,364 (GRCm39) S359T possibly damaging Het
Ppp4r4 T C 12: 103,579,080 (GRCm39) S873P probably damaging Het
Prss35 A G 9: 86,637,635 (GRCm39) D135G probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Ssrp1 A G 2: 84,871,930 (GRCm39) T385A possibly damaging Het
Tcf15 T C 2: 151,985,871 (GRCm39) I109T probably damaging Het
Tcp11 C A 17: 28,288,239 (GRCm39) D330Y probably benign Het
Tktl2 T A 8: 66,964,715 (GRCm39) V91E probably benign Het
Usp48 G A 4: 137,341,073 (GRCm39) V358M probably damaging Het
Vmn1r228 A G 17: 20,996,609 (GRCm39) I303T probably damaging Het
Zfp229 T G 17: 21,965,010 (GRCm39) H413Q probably damaging 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
R2966:Rab21 UTSW 10 115,130,814 (GRCm39) missense probably benign 0.10
R3441:Rab21 UTSW 10 115,151,214 (GRCm39) small deletion probably benign
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'- CCTGCTTTCATTAACAGAAATTGGC -3'
(R):5'- ATGAGGACTATGTGGAGGAGTTATC -3'

Sequencing Primer
(F):5'- TGGATCTCACTCTGTAGACCAAG -3'
(R):5'- AAGACTTGTAAGGTATTTTGCGTTCC -3'
Posted On 2014-12-29