|Institutional Source||Beutler Lab|
|Gene Name||RAB2A, member RAS oncogene family|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0331 (G1)|
|Chromosomal Location||8535644-8607778 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 8572559 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 51 (D51G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057664 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060232]|
|Predicted Effect||probably benign
AA Change: D51G
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: D51G
|Meta Mutation Damage Score||0.1578|
|Coding Region Coverage||
|Validation Efficiency||100% (81/81)|
|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||
|Other mutations in Rab2a||
(F):5'- TGGTTTAAGTGATGGCTTCCAGCAG -3'
(R):5'- AGGCTTCCAGTGATCAGGACTGAAT -3'
(F):5'- AGCTGTGCTTATCACATATCTCC -3'
(R):5'- gccctattctgcctccac -3'