|Institutional Source||Beutler Lab|
|Gene Name||centrosomal protein 290|
|Synonyms||b2b1454Clo, Nphp6, b2b1752Clo|
|Essential gene?||Probably essential (E-score: 0.941)|
|Stock #||R2393 (G1)|
|Chromosomal Location||100487558-100574840 bp(+) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||A to G at 100561238 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000151388 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000164751] [ENSMUST00000219765] [ENSMUST00000220346]|
|Meta Mutation Damage Score||0.9497|
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice display mislocalization of ciliary and phototransduction proteins resulting in early-onset retinal degeneration. Heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), left bronchial isomerism, and hypoplastic spleen is also seen. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cep290||
(F):5'- CCTCAACAGAGGGATGGATAC -3'
(R):5'- ACATTCCATGTACTGTGAGCAC -3'
(F):5'- TTACACAATGGAATAGTACACAGC -3'
(R):5'- GTACTGTGAGCACACTTAACACTTC -3'