|Institutional Source||Beutler Lab|
|Gene Name||RAP2B, member of RAS oncogene family|
|Is this an essential gene?||Not available|
|Stock #||R8217 (G1)|
|Chromosomal Location||61361638-61368430 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 61365130 bp|
|Amino Acid Change||Threonine to Lysine at position 25 (T25K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038841 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049064] [ENSMUST00000066298]|
|Predicted Effect||possibly damaging
AA Change: T25K
PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: T25K
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rap2b||
(F):5'- TTTTCCTGCGAAGTTGAGGAAG -3'
(R):5'- TACCAGGATCATGGGTACGC -3'
(F):5'- GGGGAGAAGTCCACCCGTC -3'
(R):5'- AAGCTCTGCTGGTTGACC -3'