Incidental Mutation 'R5486:Cln5'
ID 430382
Institutional Source Beutler Lab
Gene Symbol Cln5
Ensembl Gene ENSMUSG00000022125
Gene Name ceroid-lipofuscinosis, neuronal 5
Synonyms A730075N08Rik
MMRRC Submission 043047-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R5486 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 103307679-103315064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103313630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 294 (I294T)
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 damaging
Transcript: ENSMUST00000022721
AA Change: I294T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022721
Gene: ENSMUSG00000022125
AA Change: I294T

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
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency
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
A930009A15Rik G T 10: 115,415,810 (GRCm39) probably benign Het
Acad8 A T 9: 26,910,791 (GRCm39) M1K probably null Het
Adam12 C A 7: 133,509,401 (GRCm39) R786S possibly damaging Het
Add3 G A 19: 53,232,818 (GRCm39) V604I probably benign Het
Alpk2 A T 18: 65,427,425 (GRCm39) probably null Het
Ano3 T C 2: 110,576,215 (GRCm39) D102G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
Bod1l A T 5: 41,964,524 (GRCm39) D2693E possibly damaging Het
Ccdc7a T C 8: 129,711,884 (GRCm39) N284D probably damaging Het
Clic6 A G 16: 92,326,740 (GRCm39) probably null Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Cyp2d9 T A 15: 82,336,779 (GRCm39) W43R probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Erlec1 A T 11: 30,885,047 (GRCm39) H413Q probably damaging Het
Fam168a T A 7: 100,483,376 (GRCm39) M203K probably damaging Het
Fat2 A T 11: 55,144,507 (GRCm39) S4122R probably benign Het
Fgd4 A T 16: 16,292,901 (GRCm39) L272Q probably damaging Het
Hpcal4 A G 4: 123,084,557 (GRCm39) K162R probably benign Het
Iars1 T A 13: 49,863,049 (GRCm39) probably null Het
Lbr A G 1: 181,646,403 (GRCm39) probably null Het
Lrp2 T C 2: 69,267,809 (GRCm39) I4259V probably benign Het
Mcm3 C T 1: 20,885,118 (GRCm39) G189S probably damaging Het
Nr1d2 A G 14: 18,206,860 (GRCm38) V137A possibly damaging Het
Or52d1 C A 7: 103,755,705 (GRCm39) T73N probably damaging Het
Or52n3 T A 7: 104,530,168 (GRCm39) C85S probably benign Het
Or7g33 A G 9: 19,448,590 (GRCm39) V212A probably benign Het
Pim3 T C 15: 88,747,425 (GRCm39) V97A possibly damaging Het
Piwil2 T C 14: 70,638,880 (GRCm39) N479S probably benign Het
Pld3 C A 7: 27,233,156 (GRCm39) W365L probably damaging Het
Plk3 C A 4: 116,987,600 (GRCm39) E412* probably null Het
Psmd1 A G 1: 86,064,772 (GRCm39) I935V possibly damaging Het
Sh2b2 A G 5: 136,260,944 (GRCm39) S91P probably benign Het
Skor2 A G 18: 76,946,395 (GRCm39) N39S unknown Het
Slc22a22 A G 15: 57,126,847 (GRCm39) V55A probably damaging Het
Smg7 A G 1: 152,721,927 (GRCm39) S595P probably damaging Het
Snrnp200 C T 2: 127,074,986 (GRCm39) P1520S possibly damaging Het
Taar7a T A 10: 23,868,356 (GRCm39) T342S probably benign Het
Tecpr2 A T 12: 110,899,449 (GRCm39) I606F probably benign Het
Tex19.2 A T 11: 121,008,304 (GRCm39) M48K probably benign Het
Thoc1 A G 18: 9,992,204 (GRCm39) T511A probably benign Het
Trpc2 GTGTCCTA GTGTCCTATGTCCTA 7: 101,744,420 (GRCm39) probably null Het
Ubr5 C A 15: 38,008,983 (GRCm39) A1077S probably benign Het
Wdr95 A T 5: 149,519,795 (GRCm39) R571* probably null 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
R6265:Cln5 UTSW 14 103,310,663 (GRCm39) missense probably damaging 1.00
R6361:Cln5 UTSW 14 103,313,637 (GRCm39) missense probably benign 0.05
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'- GGCTGAATTTGGAACAGAATTCAAG -3'
(R):5'- TGTAGACACAGCCCTGGAAG -3'

Sequencing Primer
(F):5'- GAGCCTATTTACCTGGGA -3'
(R):5'- AGAACATGGATGCTGCTGTC -3'
Posted On 2016-10-05