|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase 5|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6498 (G1)|
|Chromosomal Location||63163768-63377902 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 63286401 bp|
|Amino Acid Change||Alanine to Serine at position 266 (A266S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034920 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034920]|
|Predicted Effect||possibly damaging
AA Change: A266S
PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: A266S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0956|
|Coding Region Coverage||
|Validation Efficiency||100% (37/37)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous mutants die at E10.5 and exhibit abnormal cardiac development and a decrease in proliferation and an increase in apoptosis in the heart, head, and dorsal regions of the embryo. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map2k5||
(F):5'- CTGACAGCCAGAGGACTATG -3'
(R):5'- AGCCCAGCCATGTCATTCAC -3'
(F):5'- CAGAGGACTATGCTCGGGCTTAG -3'
(R):5'- GCCATGTCATTCACAAAGGTAG -3'