Incidental Mutation 'R0032:Cdsn'
ID 59450
Institutional Source Beutler Lab
Gene Symbol Cdsn
Ensembl Gene ENSMUSG00000039518
Gene Name corneodesmosin
Synonyms
MMRRC Submission 038326-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0032 (G1) of strain 731
Quality Score 209
Status Validated
Chromosome 17
Chromosomal Location 35863025-35868077 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35866452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 327 (G327D)
Ref Sequence ENSEMBL: ENSMUSP00000048596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044804]
AlphaFold Q7TPC1
Predicted Effect probably damaging
Transcript: ENSMUST00000044804
AA Change: G327D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048596
Gene: ENSMUSG00000039518
AA Change: G327D

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 0.5480 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (89/89)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T A 10: 106,959,156 (GRCm39) T97S probably benign Het
Adcy1 T C 11: 7,094,729 (GRCm39) S552P possibly damaging Het
Arrb1 T C 7: 99,231,472 (GRCm39) F9L probably damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
C2cd3 T A 7: 100,093,652 (GRCm39) probably benign Het
Ccbe1 T G 18: 66,424,723 (GRCm39) T35P possibly damaging Het
Cct6b G T 11: 82,644,469 (GRCm39) T202K possibly damaging Het
Cd86 A T 16: 36,441,235 (GRCm39) S77R probably damaging Het
Cdk5rap3 A T 11: 96,799,579 (GRCm39) L412Q possibly damaging Het
Cfap54 C T 10: 92,768,559 (GRCm39) R188H probably benign Het
Clca3a2 T A 3: 144,522,494 (GRCm39) I176F probably benign Het
Cop1 T C 1: 159,152,606 (GRCm39) probably null Het
Cpne8 T A 15: 90,453,771 (GRCm39) probably benign Het
Ctsg T A 14: 56,339,196 (GRCm39) I21F probably damaging Het
Cyp2j9 T G 4: 96,457,043 (GRCm39) N476T possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dennd4c T C 4: 86,746,387 (GRCm39) probably null Het
Des A G 1: 75,338,810 (GRCm39) E195G possibly damaging Het
Dicer1 A T 12: 104,671,057 (GRCm39) L995* probably null Het
Dnah10 A G 5: 124,877,955 (GRCm39) K2623R possibly damaging Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Dnmbp A C 19: 43,891,158 (GRCm39) L203R probably damaging Het
Eif4g1 C T 16: 20,504,648 (GRCm39) S829F probably damaging Het
Enkur T C 2: 21,194,115 (GRCm39) I153V probably benign Het
Epb41l3 G T 17: 69,517,379 (GRCm39) probably null Het
Erf T C 7: 24,944,500 (GRCm39) Y277C possibly damaging Het
Fcsk G A 8: 111,618,735 (GRCm39) T341M possibly damaging Het
Fstl5 T A 3: 76,555,742 (GRCm39) probably benign Het
Galnt16 T C 12: 80,639,243 (GRCm39) V419A probably damaging Het
Gm10226 A G 17: 21,910,963 (GRCm39) D66G possibly damaging Het
Gm15821 T A 17: 34,431,199 (GRCm39) probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Impdh2 A G 9: 108,438,860 (GRCm39) D71G probably damaging Het
Ipo11 A C 13: 106,970,971 (GRCm39) probably benign Het
Ipo8 A G 6: 148,712,209 (GRCm39) C261R probably damaging Het
Iqsec3 T C 6: 121,450,089 (GRCm39) D145G possibly damaging Het
Itga11 T C 9: 62,681,377 (GRCm39) F998L probably benign Het
Junb T C 8: 85,704,415 (GRCm39) H215R probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kcnn3 CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG 3: 89,427,972 (GRCm39) probably benign Het
Krt73 T C 15: 101,702,487 (GRCm39) S459G probably benign Het
Krt74 T A 15: 101,669,887 (GRCm39) noncoding transcript Het
Meis3 C A 7: 15,916,210 (GRCm39) probably benign Het
Mlh3 A G 12: 85,292,523 (GRCm39) probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Naip6 C T 13: 100,439,745 (GRCm39) E341K probably benign Het
Nbeal2 G T 9: 110,466,936 (GRCm39) probably benign Het
Nfx1 T A 4: 41,015,321 (GRCm39) V842E probably benign Het
Oma1 T A 4: 103,223,209 (GRCm39) S465T possibly damaging Het
Opa1 A T 16: 29,433,887 (GRCm39) H574L probably damaging Het
Or10al2 T A 17: 37,983,378 (GRCm39) W155R probably damaging Het
Or6c210 T A 10: 129,496,269 (GRCm39) V198D probably benign Het
Or8c13 A G 9: 38,091,904 (GRCm39) C72R probably damaging Het
Otog T A 7: 45,937,637 (GRCm39) L1782* probably null Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Pcsk5 T C 19: 17,542,179 (GRCm39) N804S possibly damaging Het
Pde4a C A 9: 21,112,728 (GRCm39) probably benign Het
Pilra T A 5: 137,829,527 (GRCm39) D179V probably damaging Het
Piwil1 G A 5: 128,820,344 (GRCm39) S247N probably benign Het
Ppp2r1a G A 17: 21,165,846 (GRCm39) probably benign Het
Prss58 T G 6: 40,872,633 (GRCm39) T158P probably benign Het
Setmar T A 6: 108,053,377 (GRCm39) C290* probably null Het
Slc35e3 T C 10: 117,580,837 (GRCm39) M156V probably benign Het
Slc4a5 T A 6: 83,250,139 (GRCm39) I509N probably damaging Het
Slit2 G A 5: 48,414,198 (GRCm39) R938Q probably damaging Het
Snrpn A G 7: 59,634,830 (GRCm39) Y168H probably damaging Het
Sycn C T 7: 28,240,717 (GRCm39) A128V possibly damaging Het
Synm C A 7: 67,383,675 (GRCm39) R1329M possibly damaging Het
Syt8 T C 7: 141,992,926 (GRCm39) V152A probably benign Het
Tcp10a T C 17: 7,604,306 (GRCm39) M247T probably benign Het
Tjp2 A G 19: 24,086,059 (GRCm39) L821S probably damaging Het
Tppp2 G T 14: 52,156,866 (GRCm39) R81L possibly damaging Het
Trim34b A G 7: 103,985,784 (GRCm39) D473G possibly damaging Het
Trpc3 A G 3: 36,698,405 (GRCm39) I618T probably damaging Het
Trpm5 A T 7: 142,638,978 (GRCm39) D264E probably damaging Het
Tuba8 A T 6: 121,202,863 (GRCm39) D392V probably benign Het
Vmn1r50 C A 6: 90,084,782 (GRCm39) P176T probably damaging Het
Vmn1r76 T C 7: 11,665,194 (GRCm39) I7V probably benign Het
Vmn2r26 T A 6: 124,016,858 (GRCm39) W441R possibly damaging Het
Vmn2r57 T C 7: 41,049,157 (GRCm39) probably null Het
Zc3h4 T A 7: 16,168,565 (GRCm39) D891E unknown Het
Zfp120 A T 2: 149,959,512 (GRCm39) V270E possibly damaging Het
Znhit1 G C 5: 137,013,901 (GRCm39) R8G possibly damaging Het
Other mutations in Cdsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Cdsn APN 17 35,865,740 (GRCm39) missense unknown
IGL02851:Cdsn APN 17 35,866,791 (GRCm39) missense possibly damaging 0.66
E7848:Cdsn UTSW 17 35,867,004 (GRCm39) missense probably benign 0.05
R0105:Cdsn UTSW 17 35,867,035 (GRCm39) missense possibly damaging 0.66
R0105:Cdsn UTSW 17 35,867,035 (GRCm39) missense possibly damaging 0.66
R0696:Cdsn UTSW 17 35,866,893 (GRCm39) missense possibly damaging 0.46
R2070:Cdsn UTSW 17 35,865,591 (GRCm39) missense probably damaging 1.00
R2071:Cdsn UTSW 17 35,865,591 (GRCm39) missense probably damaging 1.00
R4975:Cdsn UTSW 17 35,866,326 (GRCm39) missense possibly damaging 0.46
R5254:Cdsn UTSW 17 35,863,099 (GRCm39) start codon destroyed probably null 0.99
R6061:Cdsn UTSW 17 35,865,803 (GRCm39) missense unknown
R6117:Cdsn UTSW 17 35,865,931 (GRCm39) missense unknown
R7828:Cdsn UTSW 17 35,865,878 (GRCm39) missense unknown
R8174:Cdsn UTSW 17 35,866,529 (GRCm39) nonsense probably null
R8337:Cdsn UTSW 17 35,866,415 (GRCm39) missense possibly damaging 0.83
RF020:Cdsn UTSW 17 35,865,876 (GRCm39) small insertion probably benign
RF023:Cdsn UTSW 17 35,865,876 (GRCm39) small insertion probably benign
RF045:Cdsn UTSW 17 35,865,865 (GRCm39) small insertion probably benign
Z1176:Cdsn UTSW 17 35,866,968 (GRCm39) missense probably damaging 0.97
Z1176:Cdsn UTSW 17 35,866,722 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AATGGGTAAGCAGCAGTTCTCAGTC -3'
(R):5'- CTGAATTCTCGTACCCGAGCAAGG -3'

Sequencing Primer
(F):5'- AAGTGGCTCTGCTCTACCAAC -3'
(R):5'- CCTTAGAGCTGACAGAGCCAG -3'
Posted On 2013-07-11