|Institutional Source||Beutler Lab|
|Gene Name||centrosomal protein 290|
|Synonyms||b2b1454Clo, Nphp6, b2b1752Clo|
|Is this an essential gene?||Probably essential (E-score: 0.943)|
|Stock #||R8266 (G1)|
|Chromosomal Location||100487558-100574840 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 100559671 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 2114 (K2114E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130899 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000164751]|
|Predicted Effect||probably benign
AA Change: K2114E
PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: K2114E
|Coding Region Coverage||
|Validation Efficiency||97% (57/59)|
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'- AGACACAATTGTTTGGTTCTGTAGT -3'
(R):5'- AGGCCCTTGGTTCTGTGAAG -3'
(F):5'- AATTGTTTGGTTCTGTAGTTGAGTTG -3'
(R):5'- TCTGTGAAGGTTCAATGCCCCAG -3'