|Institutional Source||Beutler Lab|
|Gene Name||RAS p21 protein activator 2|
|Is this an essential gene?||Probably non essential (E-score: 0.155)|
|Stock #||R3055 (G1)|
|Chromosomal Location||96539300-96631617 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 96611473 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 53 (L53F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034984 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034984] [ENSMUST00000128346]|
|Predicted Effect||possibly damaging
AA Change: L53F
PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: L53F
|Meta Mutation Damage Score||0.0837|
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rasa2||
(F):5'- AAGCACTTCACTGGGGTCAC -3'
(R):5'- TCTCAGGAAAGTTCACCACC -3'
(F):5'- CAGCCTACTTAGGAGGTGTGAACTTC -3'
(R):5'- GGAAAGTTCACCACCTTTTAGC -3'