|Institutional Source||Beutler Lab|
|Gene Name||ceroid-lipofuscinosis, neuronal 5|
|Is this an essential gene?||Probably non essential (E-score: 0.210)|
|Stock #||R6265 (G1)|
|Chromosomal Location||103070216-103077628 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 103073227 bp|
|Amino Acid Change||Threonine to Lysine at position 110 (T110K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022721 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022721]|
|Predicted Effect||probably damaging
AA Change: T110K
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: T110K
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants showed loss of vision and accumulation of autofluorescent storage material in the central nervous system. Loss of a subset of GABAergic interneurons was seen in several brain areas. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cln5||
(F):5'- ACAAAAGTGATGGGTGCCTGC -3'
(R):5'- TGCAACGACTGACAGTGTCC -3'
(F):5'- GTGTCACCACCAGGATAGTGAC -3'
(R):5'- GACTGACAGTGTCCCGTTTTC -3'