Incidental Mutation 'E7848:Cdsn'
ID58
Institutional Source Beutler Lab
Gene Symbol Cdsn
Ensembl Gene ENSMUSG00000039518
Gene Namecorneodesmosin
Synonyms
Accession Numbers

Genbank: NM_001008424; MGI: 3505689

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #E7848 of strain Klein-zschocher
Quality Score
Status Validated
Chromosome17
Chromosomal Location35552128-35557180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35556107 bp
ZygosityHomozygous
Amino Acid Change Valine to Alanine at position 511 (V511A)
Ref Sequence ENSEMBL: ENSMUSP00000048596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044804]
Predicted Effect probably benign
Transcript: ENSMUST00000044804
AA Change: V511A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000048596
Gene: ENSMUSG00000039518
AA Change: V511A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 61 99 N/A INTRINSIC
low complexity region 109 216 N/A INTRINSIC
low complexity region 224 248 N/A INTRINSIC
low complexity region 359 373 N/A INTRINSIC
low complexity region 379 394 N/A INTRINSIC
internal_repeat_1 402 427 2.86e-5 PROSPERO
low complexity region 431 438 N/A INTRINSIC
low complexity region 441 469 N/A INTRINSIC
internal_repeat_1 504 528 2.86e-5 PROSPERO
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 86.1%
  • 3x: 63.4%
Validation Efficiency 94% (82/87)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with epidermal detachment. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn2 T A 1: 182,486,594 D362V possibly damaging Het
Cyp2j11 T A 4: 96,319,365 I238L probably benign Het
Nat8f5 T G 6: 85,817,619 T120P probably damaging Homo
Sybu A T 15: 44,673,422 S375T probably benign Homo
Trappc8 T C 18: 20,850,918 H680R probably damaging Het
Other mutations in Cdsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Cdsn APN 17 35554843 missense unknown
IGL02851:Cdsn APN 17 35555894 missense possibly damaging 0.66
R0032:Cdsn UTSW 17 35555555 missense probably damaging 1.00
R0105:Cdsn UTSW 17 35556138 missense possibly damaging 0.66
R0105:Cdsn UTSW 17 35556138 missense possibly damaging 0.66
R0696:Cdsn UTSW 17 35555996 missense possibly damaging 0.46
R2070:Cdsn UTSW 17 35554694 missense probably damaging 1.00
R2071:Cdsn UTSW 17 35554694 missense probably damaging 1.00
R4975:Cdsn UTSW 17 35555429 missense possibly damaging 0.46
R5254:Cdsn UTSW 17 35552202 start codon destroyed probably null 0.99
R6061:Cdsn UTSW 17 35554906 missense unknown
R6117:Cdsn UTSW 17 35555034 missense unknown
R7828:Cdsn UTSW 17 35554981 missense unknown
R8174:Cdsn UTSW 17 35555632 nonsense probably null
R8337:Cdsn UTSW 17 35555518 missense possibly damaging 0.83
RF020:Cdsn UTSW 17 35554979 small insertion probably benign
RF023:Cdsn UTSW 17 35554979 small insertion probably benign
RF045:Cdsn UTSW 17 35554968 small insertion probably benign
Z1176:Cdsn UTSW 17 35555825 missense possibly damaging 0.90
Z1176:Cdsn UTSW 17 35556071 missense probably damaging 0.97
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 1605 of the Cdsn transcript in exon 2 of 2 total exons. The mutated nucleotide causes a valine to alanine substitution at amino acid 511 in the standard isoform of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Cdsn gene encodes corneodesmosin, a 561 amino acid that is found in corneodesmosomes, which are intracellular structures that are involved in desquamation. Corneodesmosin contains a signal peptide at amino acids 1-32, and is processed and secreted as a 529 amino acid protein (Uniprot Q7TPC1). Mice homozygous for a null mutation in the Cdsn gene display neonatal lethality with epidermal detachment.
 
The V511A change is predicted to be benign by the PolyPhen program.
Posted On2009-11-13