|Institutional Source||Beutler Lab|
|Gene Name||CDK5 regulatory subunit associated protein 1|
|Essential gene?||Possibly non essential (E-score: 0.256)|
|Stock #||R4715 (G1)|
|Chromosomal Location||154335380-154373010 bp(-) (GRCm38)|
|Type of Mutation||makesense|
|DNA Base Change (assembly)||C to A at 154361835 bp (GRCm38)|
|Amino Acid Change||Stop codon to Leucine at position 191 (*191L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105352 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028990] [ENSMUST00000109730] [ENSMUST00000109731]|
AA Change: *191L
AA Change: *191L
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||92% (86/93)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a null allele show deficient mitochondrial tRNA modification, reduced mitochondrial protein synthesis, defects in oxidative phosphorylation, high susceptibility to stress-induced mitochondrial remodeling, and accelerated myopathy and cardiac dysfunction under stressed conditions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdk5rap1||
(F):5'- TTTACCAACTCCTTGTACTGGTT -3'
(R):5'- GCCATCACAGCTGTGCAAAA -3'
(F):5'- ACAGGCATTTGTAAGCTGCC -3'
(R):5'- TGTGCAAAACAGTGGCCTG -3'