Incidental Mutation 'R6361:Cln5'
ID 513138
Institutional Source Beutler Lab
Gene Symbol Cln5
Ensembl Gene ENSMUSG00000022125
Gene Name ceroid-lipofuscinosis, neuronal 5
Synonyms A730075N08Rik
MMRRC Submission 044511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R6361 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 103307679-103315064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103313637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 296 (D296E)
Ref Sequence ENSEMBL: ENSMUSP00000022721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022720] [ENSMUST00000022721] [ENSMUST00000145693]
AlphaFold Q3UMW8
Predicted Effect probably benign
Transcript: ENSMUST00000022720
SMART Domains Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124

DomainStartEndE-ValueType
FBOX 39 79 5.92e-7 SMART
low complexity region 235 247 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022721
AA Change: D296E

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000022721
Gene: ENSMUSG00000022125
AA Change: D296E

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:CLN5 34 332 9e-169 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145693
SMART Domains Protein: ENSMUSP00000116044
Gene: ENSMUSG00000022124

DomainStartEndE-ValueType
FBOX 39 79 5.92e-7 SMART
low complexity region 235 247 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227117
Meta Mutation Damage Score 0.1625 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 98% (43/44)
MGI Phenotype 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
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap1 C T 15: 64,221,672 (GRCm39) probably null Het
Cabin1 G A 10: 75,562,699 (GRCm39) A29V possibly damaging Het
Cadps G A 14: 12,491,778 (GRCm38) Q791* probably null Het
Cdc14b T C 13: 64,364,023 (GRCm39) probably null Het
Cep89 C T 7: 35,097,472 (GRCm39) P33S probably damaging Het
Clec18a A G 8: 111,807,661 (GRCm39) probably benign Het
Col6a4 A T 9: 105,943,902 (GRCm39) S1191T probably benign Het
Crispld1 A G 1: 17,832,455 (GRCm39) I480M probably damaging Het
Dhrs7 A C 12: 72,711,433 (GRCm39) L32V probably damaging Het
Dscam T C 16: 96,424,011 (GRCm39) T1645A probably benign Het
Eif2b3 A G 4: 116,885,622 (GRCm39) T55A possibly damaging Het
Ercc6 T C 14: 32,239,067 (GRCm39) Y52H probably benign Het
Fam170b C A 14: 32,558,028 (GRCm39) Q288K unknown Het
Flt4 A G 11: 49,521,405 (GRCm39) T442A probably benign Het
Gm19402 A T 10: 77,525,895 (GRCm39) probably benign Het
Gm4841 A G 18: 60,403,832 (GRCm39) I87T probably damaging Het
Hspb7 A G 4: 141,149,860 (GRCm39) E82G possibly damaging Het
Itgb3 A G 11: 104,556,408 (GRCm39) K750E possibly damaging Het
Itsn2 A G 12: 4,679,655 (GRCm39) M155V probably benign Het
Marchf8 A T 6: 116,379,062 (GRCm39) D332V probably null Het
Mst1r A G 9: 107,793,052 (GRCm39) M1042V probably benign Het
Muc4 T C 16: 32,587,725 (GRCm39) F2756L probably benign Het
Myl6b T A 10: 128,333,078 (GRCm39) K55* probably null Het
Or1j19 A G 2: 36,676,792 (GRCm39) N85S probably damaging Het
Or4c123 A T 2: 89,126,990 (GRCm39) I208N probably damaging Het
Or4k51 G T 2: 111,584,940 (GRCm39) L115F probably damaging Het
Or7g18 T C 9: 18,787,027 (GRCm39) Y132H probably damaging Het
Or8g50 A C 9: 39,648,968 (GRCm39) N286H probably damaging Het
Pcca A G 14: 122,875,794 (GRCm39) D141G probably benign Het
Pkd2 C T 5: 104,634,546 (GRCm39) R526* probably null Het
Polr2a C A 11: 69,634,163 (GRCm39) A756S probably damaging Het
Prkd2 T C 7: 16,581,579 (GRCm39) S145P probably damaging Het
Rhbdf1 T C 11: 32,162,915 (GRCm39) N451D possibly damaging Het
Rundc3a G A 11: 102,291,621 (GRCm39) R358Q probably damaging Het
Spata31g1 A T 4: 42,972,695 (GRCm39) D676V probably benign Het
Spef1l T A 7: 139,556,585 (GRCm39) D134V possibly damaging Het
Tbc1d4 T C 14: 101,744,610 (GRCm39) K339E probably damaging Het
Usp37 A G 1: 74,493,052 (GRCm39) I723T probably benign Het
Vwa2 A T 19: 56,889,958 (GRCm39) probably null Het
Zdbf2 A C 1: 63,342,480 (GRCm39) R286S possibly damaging Het
Zfp422 G A 6: 116,603,781 (GRCm39) H73Y probably damaging Het
Zfp868 T C 8: 70,064,564 (GRCm39) H257R probably damaging Het
Zzef1 A G 11: 72,775,175 (GRCm39) S1723G possibly damaging Het
Other mutations in Cln5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Cln5 APN 14 103,313,468 (GRCm39) missense possibly damaging 0.64
IGL02218:Cln5 APN 14 103,313,276 (GRCm39) splice site probably null
PIT4480001:Cln5 UTSW 14 103,309,214 (GRCm39) nonsense probably null
R0649:Cln5 UTSW 14 103,309,197 (GRCm39) missense probably benign
R2043:Cln5 UTSW 14 103,313,380 (GRCm39) missense probably damaging 1.00
R2313:Cln5 UTSW 14 103,309,182 (GRCm39) nonsense probably null
R3829:Cln5 UTSW 14 103,310,795 (GRCm39) missense probably damaging 0.97
R5486:Cln5 UTSW 14 103,313,630 (GRCm39) missense probably damaging 0.98
R6265:Cln5 UTSW 14 103,310,663 (GRCm39) missense probably damaging 1.00
R7361:Cln5 UTSW 14 103,313,339 (GRCm39) missense probably damaging 1.00
R7869:Cln5 UTSW 14 103,313,501 (GRCm39) missense probably damaging 1.00
R8907:Cln5 UTSW 14 103,310,711 (GRCm39) missense probably damaging 1.00
R9648:Cln5 UTSW 14 103,313,734 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- AGACGTGGTTCGAGTCCTAC -3'
(R):5'- ACATGGATGCTGCTGTCTG -3'

Sequencing Primer
(F):5'- TGGCTGAATTTGGAACAGAATTC -3'
(R):5'- CTGTCTGGAGAGCAGCAG -3'
Posted On 2018-04-27