Incidental Mutation 'IGL01549:Rab2a'
ID 90548
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 # IGL01549
Quality Score
Status
Chromosome 4
Chromosomal Location 8535661-8607708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 8582393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 125 (S125Y)
Ref Sequence ENSEMBL: ENSMUSP00000057664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060232]
AlphaFold P53994
Predicted Effect probably benign
Transcript: ENSMUST00000060232
AA Change: S125Y

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000057664
Gene: ENSMUSG00000047187
AA Change: S125Y

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,601,106 (GRCm39) V259I possibly damaging Het
Abhd4 C T 14: 54,504,589 (GRCm39) T273I probably damaging Het
Adamtsl3 T C 7: 82,261,656 (GRCm39) S1691P probably damaging Het
Anapc1 A G 2: 128,495,090 (GRCm39) S901P probably benign Het
Ank3 C T 10: 69,768,250 (GRCm39) S56F probably damaging Het
Ccdc74a A G 16: 17,468,406 (GRCm39) S343G probably benign Het
Clec7a A T 6: 129,449,640 (GRCm39) Y3* probably null Het
Il6 A G 5: 30,224,469 (GRCm39) T170A probably benign Het
Itgax C A 7: 127,730,378 (GRCm39) probably null Het
Lrrc17 A T 5: 21,775,288 (GRCm39) R283S probably benign Het
Muc1 C T 3: 89,139,117 (GRCm39) P533S probably damaging Het
Or10j5 T C 1: 172,784,541 (GRCm39) Y60H probably damaging Het
Or13n4 T C 7: 106,423,236 (GRCm39) I166V probably benign Het
Or4c121 C T 2: 89,024,133 (GRCm39) V82I probably benign Het
Or4d10c T A 19: 12,065,329 (GRCm39) I276F probably benign Het
Or8k37 A C 2: 86,469,705 (GRCm39) S116A probably benign Het
Or8k37 T C 2: 86,469,876 (GRCm39) M59V possibly damaging Het
Pcnt A C 10: 76,203,320 (GRCm39) probably null Het
Pde4b A T 4: 102,462,265 (GRCm39) D647V probably damaging Het
Phldb2 T C 16: 45,594,681 (GRCm39) M875V probably benign Het
Prkar2b T C 12: 32,111,071 (GRCm39) E4G possibly damaging Het
Samm50 A G 15: 84,086,982 (GRCm39) I264V probably benign Het
Sgsh C T 11: 119,241,755 (GRCm39) A90T probably damaging Het
Tap2 A G 17: 34,433,303 (GRCm39) T489A probably benign Het
Wdr38 T G 2: 38,890,730 (GRCm39) S201R probably damaging Het
Zfhx4 A G 3: 5,464,522 (GRCm39) D1560G probably damaging Het
Zfp462 A G 4: 55,013,181 (GRCm39) T568A probably damaging Het
Other mutations in Rab2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-09