Incidental Mutation 'IGL02420:Rab2a'
ID 292608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab2a
Ensembl Gene ENSMUSG00000047187
Gene Name RAB2A, member RAS oncogene family
Synonyms 9330148M11Rik, Rab2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02420
Quality Score
Status
Chromosome 4
Chromosomal Location 8535661-8607708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8572553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 49 (T49M)
Ref Sequence ENSEMBL: ENSMUSP00000057664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060232]
AlphaFold P53994
Predicted Effect possibly damaging
Transcript: ENSMUST00000060232
AA Change: T49M

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057664
Gene: ENSMUSG00000047187
AA Change: T49M

DomainStartEndE-ValueType
RAB 7 170 1e-110 SMART
low complexity region 195 210 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,187,494 (GRCm39) N136S probably damaging Het
Adcy8 A G 15: 64,659,303 (GRCm39) S496P probably damaging Het
Agbl3 T A 6: 34,762,242 (GRCm39) S81T possibly damaging Het
Apobec1 A T 6: 122,558,531 (GRCm39) Y75N probably benign Het
Asic2 A G 11: 80,772,479 (GRCm39) L517P probably benign Het
Atp8a1 A G 5: 67,840,126 (GRCm39) S752P probably damaging Het
Blm T C 7: 80,145,754 (GRCm39) Y775C probably damaging Het
C1qtnf5 T C 9: 44,019,901 (GRCm39) I175T probably benign Het
Ccdc81 G A 7: 89,524,946 (GRCm39) T545I probably benign Het
Ccdc88b T C 19: 6,834,317 (GRCm39) E174G probably damaging Het
Chl1 G A 6: 103,692,330 (GRCm39) V1066M probably damaging Het
Cntn6 T A 6: 104,823,103 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyren T C 6: 34,851,404 (GRCm39) Y150C probably damaging Het
Cysrt1 T C 2: 25,129,360 (GRCm39) I51V probably benign Het
Dnah7a T C 1: 53,725,702 (GRCm39) N69S probably benign Het
Fam83d T C 2: 158,627,655 (GRCm39) L448P probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Inppl1 G A 7: 101,481,526 (GRCm39) probably benign Het
Iqcc T C 4: 129,510,748 (GRCm39) T256A probably benign Het
Itprid2 T C 2: 79,465,986 (GRCm39) S35P probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Lyz1 A T 10: 117,124,535 (GRCm39) C134S probably damaging Het
Mpzl3 T C 9: 44,977,815 (GRCm39) I141T possibly damaging Het
Mterf1a T C 5: 3,941,047 (GRCm39) N274D probably damaging Het
Myo18a T A 11: 77,709,519 (GRCm39) V543D possibly damaging Het
Myo18b A T 5: 112,975,852 (GRCm39) D1332E possibly damaging Het
Or2r11 A G 6: 42,437,110 (GRCm39) V281A probably benign Het
Pcdh15 A T 10: 74,138,938 (GRCm39) D333V probably damaging Het
Plekha7 A G 7: 115,757,469 (GRCm39) Y494H probably damaging Het
Plekhg1 A G 10: 3,914,106 (GRCm39) N1276S probably damaging Het
Ppig T C 2: 69,562,571 (GRCm39) V5A probably benign Het
Prag1 A T 8: 36,614,580 (GRCm39) probably benign Het
Prom1 T C 5: 44,220,496 (GRCm39) N84S probably benign Het
Ptprh T A 7: 4,583,929 (GRCm39) Y221F probably damaging Het
Qsox2 A G 2: 26,110,731 (GRCm39) Y162H probably benign Het
Ring1 A G 17: 34,242,122 (GRCm39) S96P possibly damaging Het
Ripk3 A G 14: 56,022,691 (GRCm39) F411S probably benign Het
Rock1 T C 18: 10,070,619 (GRCm39) probably null Het
Rtn4rl1 A G 11: 75,156,645 (GRCm39) N359S probably damaging Het
Sufu A G 19: 46,413,481 (GRCm39) T76A probably damaging Het
Sugct C A 13: 17,627,053 (GRCm39) V267F probably damaging Het
Tcf4 A T 18: 69,697,210 (GRCm39) R29W probably damaging Het
Tnfsf18 A T 1: 161,331,158 (GRCm39) I103L probably benign Het
Vwf A G 6: 125,654,879 (GRCm39) E2525G probably benign Het
Other mutations in Rab2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Rab2a APN 4 8,582,393 (GRCm39) missense probably benign 0.02
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
R8017:Rab2a UTSW 4 8,604,444 (GRCm39) critical splice donor site probably null
R9508:Rab2a UTSW 4 8,582,447 (GRCm39) missense
Posted On 2015-04-16