|Institutional Source||Beutler Lab|
|Gene Name||ribosomal protein S6 kinase, polypeptide 2|
|Synonyms||Rps6ka-rs1, pp90rsk, p90rsk, D17Wsu134e, 90kDa, Rsk3|
|Essential gene?||Possibly non essential (E-score: 0.271)|
|Stock #||R9047 (G1)|
|Chromosomal Location||7170115-7303315 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 7300279 bp (GRCm38)|
|Amino Acid Change||Valine to Leucine at position 714 (V714L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024575 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024575]|
AA Change: V714L
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: V714L
|Coding Region Coverage||
|Validation Efficiency||100% (76/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased response of heart to stress following transverse aortic constriction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rps6ka2||
(F):5'- TGGTGTCCTAGTGTACCAGG -3'
(R):5'- AAGGCCAGATCCATCTTTGTG -3'
(F):5'- CCTAGTGTACCAGGAATCTTGGAG -3'
(R):5'- AGATCCATCTTTGTGCTGGAC -3'