|Institutional Source||Beutler Lab|
|Gene Name||CDK5 regulatory subunit associated protein 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.427)|
|Stock #||R0044 (G1)|
|Chromosomal Location||70216856-70410443 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 70360901 bp (GRCm38)|
|Amino Acid Change||Leucine to Histidine at position 190 (L190H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000119891 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076541] [ENSMUST00000144099]|
AA Change: L190H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L190H
|Meta Mutation Damage Score||0.0992|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdk5rap2||
(F):5'- ATTCACTCGTAGTCATGGTGGGGACC -3'
(R):5'- TCCATGTATAGTACATCCAGGGAGGGG -3'
(F):5'- ttccctccaatagtgccaag -3'
(R):5'- CATCCAGGGAGGGGAAATGTG -3'