Incidental Mutation 'R3829:Cln5'
ID 273913
Institutional Source Beutler Lab
Gene Symbol Cln5
Ensembl Gene ENSMUSG00000022125
Gene Name ceroid-lipofuscinosis, neuronal 5
Synonyms A730075N08Rik
MMRRC Submission 040776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R3829 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 103307679-103315064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103310795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 154 (D154G)
Ref Sequence ENSEMBL: ENSMUSP00000022721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022721]
AlphaFold Q3UMW8
Predicted Effect probably damaging
Transcript: ENSMUST00000022721
AA Change: D154G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022721
Gene: ENSMUSG00000022125
AA Change: D154G

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:CLN5 34 332 9e-169 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227117
Meta Mutation Damage Score 0.7056 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (54/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G T 14: 54,821,966 (GRCm39) H466Q probably damaging Het
4933411K16Rik A T 19: 42,041,322 (GRCm39) H151L probably damaging Het
A330008L17Rik A G 8: 100,148,389 (GRCm39) noncoding transcript Het
Abcc5 C A 16: 20,184,615 (GRCm39) V1015L probably benign Het
Bach2 T A 4: 32,563,150 (GRCm39) L539H probably damaging Het
Birc6 A G 17: 74,962,173 (GRCm39) K3929R probably damaging Het
C1qtnf2 A G 11: 43,382,148 (GRCm39) D320G probably benign Het
Cbr2 A T 11: 120,621,278 (GRCm39) H140Q probably benign Het
Cbs T C 17: 31,836,355 (GRCm39) probably benign Het
Cdc42bpg T C 19: 6,367,675 (GRCm39) V1015A probably damaging Het
Cep104 T G 4: 154,069,400 (GRCm39) M207R probably damaging Het
Chil6 A T 3: 106,313,274 (GRCm39) M25K probably benign Het
Col4a1 C A 8: 11,259,650 (GRCm39) G1341V probably damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cplane2 C T 4: 140,945,900 (GRCm39) R148C probably damaging Het
Cx3cl1 A T 8: 95,503,934 (GRCm39) probably benign Het
Cyct T C 2: 76,184,512 (GRCm39) K80E probably damaging Het
Dhx37 T C 5: 125,508,677 (GRCm39) K86R probably benign Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
Etl4 T C 2: 20,790,232 (GRCm39) V628A probably benign Het
Fam234a T C 17: 26,437,163 (GRCm39) E172G probably benign Het
Foxp2 C T 6: 15,379,830 (GRCm39) probably benign Het
Frem1 A T 4: 82,917,167 (GRCm39) F592Y probably damaging Het
Gm10259 T G 3: 25,266,693 (GRCm39) noncoding transcript Het
Gm17521 C A X: 121,938,922 (GRCm39) G149C unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
Hap1 G T 11: 100,246,847 (GRCm39) D19E probably damaging Het
Lpcat1 T C 13: 73,637,212 (GRCm39) I114T possibly damaging Het
Mast4 G T 13: 102,875,319 (GRCm39) H1350N probably damaging Het
Mrpl50 T C 4: 49,514,539 (GRCm39) E44G probably damaging Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Ncapg2 A T 12: 116,370,938 (GRCm39) probably benign Het
Ncor2 T C 5: 125,195,756 (GRCm39) probably benign Het
Neo1 A G 9: 58,820,452 (GRCm39) Y824H possibly damaging Het
Or1o4 T A 17: 37,591,140 (GRCm39) Y57F probably damaging Het
Orc1 T A 4: 108,462,828 (GRCm39) M635K probably damaging Het
Phip A G 9: 82,753,698 (GRCm39) I1682T probably benign Het
Ppp2r1b A G 9: 50,773,794 (GRCm39) N223S probably benign Het
Ralb A T 1: 119,399,447 (GRCm39) C204S probably benign Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rtkn2 A T 10: 67,833,456 (GRCm39) probably null Het
Srrm3 A G 5: 135,886,068 (GRCm39) D336G probably damaging Het
Stk11 T C 10: 79,963,782 (GRCm39) probably null Het
Svep1 A G 4: 58,096,177 (GRCm39) L1481P probably damaging Het
Tiam2 C G 17: 3,557,976 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmprss11b T C 5: 86,809,449 (GRCm39) T348A probably damaging Het
Ube3b C A 5: 114,538,012 (GRCm39) Q368K probably damaging Het
Veph1 T A 3: 66,066,748 (GRCm39) E413D possibly damaging Het
Vmn2r91 T G 17: 18,325,759 (GRCm39) W126G probably damaging Het
Yrdc T A 4: 124,745,554 (GRCm39) M1K probably null Het
Zfp445 T C 9: 122,682,142 (GRCm39) M600V probably benign 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
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
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'- ACAGAAACTTATGCATGACGCC -3'
(R):5'- GCAATTCCTAGCAAGGCTCTAC -3'

Sequencing Primer
(F):5'- ATGACGCCGTGGGATTCAG -3'
(R):5'- TCTACATCAGGATCCAGTCGG -3'
Posted On 2015-04-02