|Institutional Source||Beutler Lab|
|Gene Name||p21 (RAC1) activated kinase 2|
|Synonyms||A130002K10Rik, PAK-2, 5330420P17Rik, D16Ertd269e|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5294 (G1)|
|Chromosomal Location||32016290-32079342 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 32021830 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 478 (N478Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023467 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023467]|
|Predicted Effect||probably damaging
AA Change: N478Y
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: N478Y
|Meta Mutation Damage Score||0.1110|
|Coding Region Coverage||
|Validation Efficiency||97% (70/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E8 and the postnatal period with prominent head folds, impaired somite development, and growth retardation. Mice homozygous for a knock-in allele exhibit increased cell proliferation and decreased apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pak2||
(F):5'- CAAGTCTGTATGCGCACATG -3'
(R):5'- CAAAACTGCCACTGGAGAGG -3'
(F):5'- TCATACACACACAGAGTTAAATTCTG -3'
(R):5'- CCACTGGAGAGGACAGGCTTAG -3'