|Institutional Source||Beutler Lab|
|Gene Name||ceramide kinase-like|
|Is this an essential gene?||Possibly non essential (E-score: 0.402)|
|Stock #||R7874 (G1)|
|Chromosomal Location||79330543-79456785 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 79338637 bp|
|Amino Acid Change||Arginine to Serine at position 407 (R407S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000114325 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000143974] [ENSMUST00000156731]|
|Predicted Effect||probably damaging
AA Change: R407S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R407S
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit retinal apoptosis and decreased amplitudes and increased implicit time of oscillatory potentials. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cerkl||
(F):5'- GGTTTCTCACAAGACTAAACTTGAC -3'
(R):5'- TTTTGCTGAGAAGAAACCCCAG -3'
(F):5'- ACTTGACATTAATCTCTGAAGCATC -3'
(R):5'- CCCCAGGGACTAATAAAACTAATTTG -3'