Incidental Mutation 'R8017:Rab2a'
ID 656286
Institutional Source Beutler Lab
Gene Symbol Rab2a
Ensembl Gene ENSMUSG00000047187
Gene Name RAB2A, member RAS oncogene family
Synonyms 9330148M11Rik, Rab2
MMRRC Submission 067457-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8017 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 8535661-8607708 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 8604444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000057664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060232]
AlphaFold P53994
Predicted Effect probably null
Transcript: ENSMUST00000060232
SMART Domains Protein: ENSMUSP00000057664
Gene: ENSMUSG00000047187

DomainStartEndE-ValueType
RAB 7 170 1e-110 SMART
low complexity region 195 210 N/A INTRINSIC
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 95% (36/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T G 2: 156,397,876 (GRCm39) I296S probably benign Het
Acsl5 A G 19: 55,257,228 (GRCm39) I42V probably benign Het
Adam25 T A 8: 41,207,124 (GRCm39) M130K possibly damaging Het
Atosb A T 4: 43,034,413 (GRCm39) F394Y probably damaging Het
Bcl2l2 T A 14: 55,121,840 (GRCm39) M1K probably null Het
Cdh16 T C 8: 105,342,899 (GRCm39) N724S probably damaging Het
Cfi T C 3: 129,648,748 (GRCm39) S211P probably benign Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Crybg2 T A 4: 133,800,484 (GRCm39) V239E possibly damaging Het
Dcn G A 10: 97,319,397 (GRCm39) R58Q probably damaging Het
Dnah10 A G 5: 124,877,949 (GRCm39) N2678S probably benign Het
Dnai7 A G 6: 145,140,283 (GRCm39) S173P probably damaging Het
Fbxo24 C A 5: 137,611,073 (GRCm39) M572I probably benign Het
Hnrnpul1 T C 7: 25,447,889 (GRCm39) E145G probably benign Het
Ica1 A G 6: 8,658,286 (GRCm39) V277A probably benign Het
Idi1 G A 13: 8,937,974 (GRCm39) S140N probably benign Het
Kank1 TGCGA T 19: 25,388,568 (GRCm39) probably null Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kif20b T C 19: 34,917,279 (GRCm39) V603A probably damaging Het
Klc2 T C 19: 5,161,867 (GRCm39) K276R probably benign Het
Lmbrd2 T A 15: 9,172,317 (GRCm39) N370K probably benign Het
Map2k5 G T 9: 63,246,403 (GRCm39) A108D probably damaging Het
Obox2 T C 7: 15,130,974 (GRCm39) S69P possibly damaging Het
Or2w2 G A 13: 21,758,648 (GRCm39) probably benign Het
Or4b1d A C 2: 89,969,170 (GRCm39) F104L probably benign Het
Or4f57 G A 2: 111,790,918 (GRCm39) P167S probably damaging Het
Pcdhga8 A G 18: 37,860,783 (GRCm39) E613G probably damaging Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Rsph4a A C 10: 33,785,455 (GRCm39) R455S probably damaging Het
Spata31f1a T C 4: 42,850,840 (GRCm39) T439A probably damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tmem151a T C 19: 5,132,588 (GRCm39) E206G probably damaging Het
Tmem156 C T 5: 65,231,204 (GRCm39) C222Y probably damaging Het
Tnfrsf11b C T 15: 54,117,598 (GRCm39) W219* probably null Het
Ttc36 T C 9: 44,710,898 (GRCm39) E144G probably damaging Het
Ttn C T 2: 76,597,801 (GRCm39) R19704H probably damaging Het
Wdr17 A C 8: 55,091,403 (GRCm39) I1137S possibly damaging Het
Xxylt1 A G 16: 30,826,637 (GRCm39) L226P probably damaging Het
Zbtb8b G A 4: 129,322,238 (GRCm39) R408W probably damaging Het
Zfp268 A G 4: 145,349,138 (GRCm39) T192A probably benign Het
Zfp873 T A 10: 81,896,193 (GRCm39) V308E probably benign Het
Other mutations in Rab2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Rab2a APN 4 8,582,393 (GRCm39) missense probably benign 0.02
IGL02420:Rab2a APN 4 8,572,553 (GRCm39) missense possibly damaging 0.91
IGL03226:Rab2a APN 4 8,606,448 (GRCm39) missense probably benign
R0331:Rab2a UTSW 4 8,572,559 (GRCm39) missense probably benign
R1627:Rab2a UTSW 4 8,578,481 (GRCm39) missense probably damaging 1.00
R5194:Rab2a UTSW 4 8,604,381 (GRCm39) missense probably benign 0.09
R9508:Rab2a UTSW 4 8,582,447 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TCTCAGCGTCCTGGTTAGAG -3'
(R):5'- GCACCTAACTGAAGTGCTCC -3'

Sequencing Primer
(F):5'- ATCAAGCTCAAGTCCTGTGG -3'
(R):5'- AGGTAACATAAGCACCTACCTATTG -3'
Posted On 2020-10-20