|Institutional Source||Beutler Lab|
|Gene Name||cytoskeleton associated protein 2-like|
|Is this an essential gene?||Possibly essential (E-score: 0.517)|
|Stock #||R6726 (G1)|
|Chromosomal Location||129268210-129297212 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 129269194 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 694 (E694D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056145 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052708]|
|Predicted Effect||probably damaging
AA Change: E694D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E694D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.556|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ckap2l||
(F):5'- GGCATTTATGTCTTGCAAGCTC -3'
(R):5'- CTCACACTGAAGTACCAGCTATG -3'
(F):5'- GACTTCAAAGCCCAGTGT -3'
(R):5'- ACTGAAGTACCAGCTATGCATAAG -3'