|Institutional Source||Beutler Lab|
|Gene Name||CDK5 regulatory subunit associated protein 2|
|Essential gene?||Possibly non essential (E-score: 0.406)|
|Stock #||R8434 (G1)|
|Chromosomal Location||70216856-70410443 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 70364020 bp (GRCm38)|
|Amino Acid Change||Histidine to Arginine at position 164 (H164R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000119891 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076541] [ENSMUST00000144099]|
AA Change: H164R
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: H164R
|Meta Mutation Damage Score||0.0846|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
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||
All alleles(22) : Targeted, other(1) Gene trapped(20) Radiation induced(1)
|Other mutations in this stock||
|Other mutations in Cdk5rap2||
(F):5'- TGTAAAGTGCCTACAGAGAGGC -3'
(R):5'- GTTCTATAAATGGGAGCAGTGAC -3'
(F):5'- TGCCTACAGAGAGGCTAGAATCC -3'
(R):5'- GTGACTGGCAAATACCCCTTG -3'