Incidental Mutation 'R1903:Dsc1'
ID 210005
Institutional Source Beutler Lab
Gene Symbol Dsc1
Ensembl Gene ENSMUSG00000044322
Gene Name desmocollin 1
Synonyms Dsc1a, Dsc1b
MMRRC Submission 039923-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R1903 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20217241-20247928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20229045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 415 (V415D)
Ref Sequence ENSEMBL: ENSMUSP00000153639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432]
AlphaFold P55849
Predicted Effect probably damaging
Transcript: ENSMUST00000038710
AA Change: V415D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: V415D

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
Cadherin_pro 29 111 2.61e-41 SMART
CA 155 240 2.78e-9 SMART
CA 264 352 5.94e-27 SMART
CA 375 470 5.27e-10 SMART
CA 493 575 1.18e-21 SMART
Blast:CA 593 672 5e-46 BLAST
transmembrane domain 692 714 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000224432
AA Change: V415D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224557
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional protein. Mice lacking the encoded protein exhibit epidermal fragility together with defects of epidermal barrier and differentiation. The neonatal mice lacking the encoded protein exhibit epidermal lesions and older mice develop chronic dermatitis. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A C 9: 57,165,635 (GRCm39) S246R possibly damaging Het
Abca13 C T 11: 9,416,411 (GRCm39) R4058C probably benign Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Adam22 C T 5: 8,184,525 (GRCm39) C489Y probably damaging Het
Agap3 A T 5: 24,698,011 (GRCm39) K460I probably damaging Het
Ak4 T C 4: 101,320,833 (GRCm39) I214T possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arrb2 T A 11: 70,328,808 (GRCm39) H221Q probably damaging Het
Atl1 T G 12: 70,006,049 (GRCm39) F452V probably damaging Het
Atp8b5 A G 4: 43,357,063 (GRCm39) T604A probably damaging Het
Bglap3 T C 3: 88,276,068 (GRCm39) I95V probably benign Het
Ccdc88a G T 11: 29,411,788 (GRCm39) M532I probably benign Het
Ccnl1 A G 3: 65,854,332 (GRCm39) S430P possibly damaging Het
Cdhr18 C T 14: 13,829,657 (GRCm38) S695N possibly damaging Het
Cdk5rap2 A T 4: 70,321,791 (GRCm39) probably null Het
Cep126 A T 9: 8,120,748 (GRCm39) Y92N possibly damaging Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnga1 T G 5: 72,774,068 (GRCm39) D90A possibly damaging Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Coq3 T C 4: 21,910,466 (GRCm39) S314P probably damaging Het
Crhr1 A G 11: 104,060,675 (GRCm39) R151G probably damaging Het
Crybg2 A G 4: 133,806,167 (GRCm39) I930V probably damaging Het
Ctcf T A 8: 106,402,620 (GRCm39) probably null Het
Dct T C 14: 118,271,690 (GRCm39) N380S probably benign Het
Decr2 A T 17: 26,306,387 (GRCm39) L83Q probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dgkb T C 12: 38,216,776 (GRCm39) probably null Het
Dnah1 T C 14: 31,041,716 (GRCm39) D85G probably damaging Het
Dnah7a T C 1: 53,574,637 (GRCm39) D1709G probably damaging Het
Dnajc13 A C 9: 104,106,136 (GRCm39) L346R probably damaging Het
Duox2 T A 2: 122,125,832 (GRCm39) I296F probably damaging Het
Ece2 T A 16: 20,463,922 (GRCm39) L890H probably damaging Het
Ecsit A G 9: 21,987,815 (GRCm39) S75P possibly damaging Het
Enpp3 A G 10: 24,654,687 (GRCm39) C664R probably damaging Het
Evpl G T 11: 116,117,854 (GRCm39) D778E probably damaging Het
Eya3 T A 4: 132,448,663 (GRCm39) probably null Het
Fam217b A T 2: 178,062,374 (GRCm39) I113F probably benign Het
Galnt6 G A 15: 100,613,999 (GRCm39) P101S possibly damaging Het
Gm379 G A X: 107,707,870 (GRCm39) Q210* probably null Het
Grk4 A T 5: 34,833,531 (GRCm39) probably null Het
Gtf3c4 A G 2: 28,729,968 (GRCm39) V91A probably benign Het
Hcfc2 G T 10: 82,538,392 (GRCm39) G143V probably damaging Het
Heatr4 A C 12: 84,005,221 (GRCm39) H710Q probably damaging Het
Htr3a A T 9: 48,817,681 (GRCm39) D97E probably damaging Het
Htr4 T G 18: 62,561,193 (GRCm39) F151L probably benign Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Invs T A 4: 48,402,824 (GRCm39) probably null Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irs1 T C 1: 82,267,182 (GRCm39) S345G probably damaging Het
Kdm4a A G 4: 118,017,596 (GRCm39) V490A probably benign Het
Kif26a C T 12: 112,141,974 (GRCm39) R743C probably damaging Het
Kif28 A G 1: 179,530,088 (GRCm39) V691A possibly damaging Het
Klhl5 T A 5: 65,324,330 (GRCm39) L696Q probably benign Het
Krtap5-1 T C 7: 141,850,084 (GRCm39) probably benign Het
Lama2 A C 10: 27,064,395 (GRCm39) D1195E probably damaging Het
Lamb1 T G 12: 31,379,209 (GRCm39) L1722R probably damaging Het
Lrp11 T A 10: 7,499,544 (GRCm39) L245Q probably damaging Het
Ltbp2 T C 12: 84,876,879 (GRCm39) E422G probably benign Het
Man2b1 T A 8: 85,813,451 (GRCm39) D214E probably damaging Het
Mlxipl A T 5: 135,162,422 (GRCm39) D628V possibly damaging Het
Msantd5f6 T A 4: 73,321,675 (GRCm39) Y120F probably damaging Het
Myo18b G A 5: 112,840,624 (GRCm39) R2390C probably damaging Het
Mypn T A 10: 62,959,176 (GRCm39) R1048S probably benign Het
Napepld A G 5: 21,870,270 (GRCm39) S383P probably damaging Het
Napsa A G 7: 44,231,160 (GRCm39) T130A probably damaging Het
Nbr1 T C 11: 101,465,978 (GRCm39) I716T probably damaging Het
Nexn A T 3: 151,953,818 (GRCm39) M212K probably damaging Het
Nlrp9b T A 7: 19,757,182 (GRCm39) S140T probably benign Het
Nxpe2 T C 9: 48,230,906 (GRCm39) T488A probably benign Het
Or10g3 T G 14: 52,610,174 (GRCm39) Q112P possibly damaging Het
Or10v1 A T 19: 11,873,913 (GRCm39) Y176F probably benign Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Or7g12 A T 9: 18,900,192 (GRCm39) K303* probably null Het
Or8k20 C T 2: 86,106,190 (GRCm39) V214I probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Pan2 T G 10: 128,144,237 (GRCm39) L162R probably damaging Het
Parp1 G T 1: 180,416,235 (GRCm39) V545F probably damaging Het
Pcdh18 A G 3: 49,709,896 (GRCm39) V473A probably benign Het
Plb1 A T 5: 32,448,582 (GRCm39) N350I probably damaging Het
Polr1a A G 6: 71,944,898 (GRCm39) K1318R probably benign Het
Ppp1r18 C T 17: 36,184,738 (GRCm39) P130S probably damaging Het
Prss48 C T 3: 85,905,614 (GRCm39) W86* probably null Het
Rab3c A T 13: 110,220,744 (GRCm39) I137N probably damaging Het
Rab3gap2 G C 1: 184,954,099 (GRCm39) R57P probably benign Het
Rad54l2 A C 9: 106,570,916 (GRCm39) probably null Het
Ralgapb C A 2: 158,337,483 (GRCm39) N1147K probably benign Het
Rfx7 C T 9: 72,524,093 (GRCm39) R428C probably damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Samd4 T C 14: 47,311,585 (GRCm39) F81S probably damaging Het
Shprh T A 10: 11,059,541 (GRCm39) Y1097* probably null Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc24a4 T A 12: 102,097,876 (GRCm39) D79E probably benign Het
Slc7a13 A T 4: 19,839,254 (GRCm39) I286F probably benign Het
Smarca1 G A X: 46,938,840 (GRCm39) Q723* probably null Het
Spata31d1b T C 13: 59,865,882 (GRCm39) L1010P probably damaging Het
Sult2a1 T C 7: 13,569,900 (GRCm39) S111G possibly damaging Het
Tecpr2 C T 12: 110,914,346 (GRCm39) T1219M probably damaging Het
Tesk1 T C 4: 43,446,998 (GRCm39) M462T probably benign Het
Thoc2l T A 5: 104,666,196 (GRCm39) S239R probably benign Het
Tmem171 C A 13: 98,822,924 (GRCm39) G292* probably null Het
Tmtc2 G T 10: 105,025,969 (GRCm39) T833N probably benign Het
Tnc G T 4: 63,918,299 (GRCm39) T1204K probably benign Het
Tnfaip3 T C 10: 18,883,937 (GRCm39) K148E probably benign Het
Tnrc18 G A 5: 142,800,895 (GRCm39) S21F probably damaging Het
Tns4 T C 11: 98,966,401 (GRCm39) T425A probably damaging Het
Tox T A 4: 6,688,948 (GRCm39) Y472F probably damaging Het
Trak2 A T 1: 58,958,014 (GRCm39) probably null Het
Trim33 T A 3: 103,244,760 (GRCm39) Y716N probably damaging Het
Trrap T G 5: 144,752,863 (GRCm39) I1813R probably damaging Het
Ttc29 A G 8: 78,978,361 (GRCm39) E137G probably benign Het
Ube2j2 A G 4: 156,033,483 (GRCm39) K19R probably benign Het
Ubxn2b T C 4: 6,208,889 (GRCm39) I206T possibly damaging Het
Usp40 A G 1: 87,909,778 (GRCm39) F559L probably benign Het
Utp4 T A 8: 107,638,982 (GRCm39) probably null Het
Vac14 A G 8: 111,409,166 (GRCm39) N524S probably benign Het
Vps13c T C 9: 67,801,334 (GRCm39) S605P probably damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zdhhc19 C T 16: 32,317,231 (GRCm39) R28* probably null Het
Zfp106 T C 2: 120,357,329 (GRCm39) I1189V probably benign Het
Zfp189 C T 4: 49,529,511 (GRCm39) Q205* probably null Het
Other mutations in Dsc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Dsc1 APN 18 20,234,943 (GRCm39) missense probably damaging 1.00
IGL00571:Dsc1 APN 18 20,243,195 (GRCm39) missense probably damaging 1.00
IGL00790:Dsc1 APN 18 20,227,953 (GRCm39) missense probably damaging 1.00
IGL00963:Dsc1 APN 18 20,245,043 (GRCm39) missense probably null 0.01
IGL00972:Dsc1 APN 18 20,221,420 (GRCm39) missense probably benign 0.32
IGL01112:Dsc1 APN 18 20,227,679 (GRCm39) missense probably benign 0.02
IGL01458:Dsc1 APN 18 20,232,195 (GRCm39) missense probably damaging 1.00
IGL01607:Dsc1 APN 18 20,222,720 (GRCm39) missense probably damaging 1.00
IGL01794:Dsc1 APN 18 20,243,240 (GRCm39) missense probably damaging 1.00
IGL01959:Dsc1 APN 18 20,230,282 (GRCm39) missense probably damaging 1.00
IGL02066:Dsc1 APN 18 20,241,860 (GRCm39) unclassified probably benign
IGL02365:Dsc1 APN 18 20,241,873 (GRCm39) missense probably damaging 1.00
IGL02714:Dsc1 APN 18 20,220,542 (GRCm39) missense probably damaging 1.00
IGL02959:Dsc1 APN 18 20,241,942 (GRCm39) missense probably damaging 1.00
IGL03019:Dsc1 APN 18 20,221,421 (GRCm39) missense probably benign 0.00
IGL03106:Dsc1 APN 18 20,219,701 (GRCm39) splice site probably null
R0414:Dsc1 UTSW 18 20,221,411 (GRCm39) missense possibly damaging 0.85
R0456:Dsc1 UTSW 18 20,232,169 (GRCm39) missense probably damaging 1.00
R0612:Dsc1 UTSW 18 20,247,573 (GRCm39) missense probably damaging 0.96
R0630:Dsc1 UTSW 18 20,218,919 (GRCm39) missense probably damaging 1.00
R0646:Dsc1 UTSW 18 20,229,114 (GRCm39) missense probably damaging 1.00
R0928:Dsc1 UTSW 18 20,243,306 (GRCm39) splice site probably null
R0976:Dsc1 UTSW 18 20,228,098 (GRCm39) splice site probably null
R1221:Dsc1 UTSW 18 20,247,599 (GRCm39) nonsense probably null
R1398:Dsc1 UTSW 18 20,221,393 (GRCm39) missense probably damaging 1.00
R1902:Dsc1 UTSW 18 20,229,045 (GRCm39) missense probably damaging 1.00
R2070:Dsc1 UTSW 18 20,221,353 (GRCm39) splice site probably null
R2119:Dsc1 UTSW 18 20,243,209 (GRCm39) missense probably benign 0.07
R3935:Dsc1 UTSW 18 20,230,298 (GRCm39) missense probably benign 0.00
R4747:Dsc1 UTSW 18 20,227,615 (GRCm39) missense probably damaging 1.00
R5034:Dsc1 UTSW 18 20,228,084 (GRCm39) missense possibly damaging 0.91
R5243:Dsc1 UTSW 18 20,232,216 (GRCm39) missense probably damaging 1.00
R5289:Dsc1 UTSW 18 20,234,910 (GRCm39) missense possibly damaging 0.72
R5300:Dsc1 UTSW 18 20,227,917 (GRCm39) missense probably damaging 1.00
R5354:Dsc1 UTSW 18 20,220,632 (GRCm39) missense probably damaging 1.00
R5376:Dsc1 UTSW 18 20,221,503 (GRCm39) missense probably benign 0.21
R5808:Dsc1 UTSW 18 20,219,886 (GRCm39) nonsense probably null
R5860:Dsc1 UTSW 18 20,228,081 (GRCm39) missense probably damaging 1.00
R6059:Dsc1 UTSW 18 20,243,299 (GRCm39) missense probably damaging 0.98
R6116:Dsc1 UTSW 18 20,230,356 (GRCm39) missense probably benign 0.10
R6351:Dsc1 UTSW 18 20,219,826 (GRCm39) missense probably damaging 1.00
R6422:Dsc1 UTSW 18 20,228,090 (GRCm39) missense probably damaging 1.00
R6811:Dsc1 UTSW 18 20,222,711 (GRCm39) missense probably benign
R6880:Dsc1 UTSW 18 20,221,429 (GRCm39) missense probably damaging 0.99
R6941:Dsc1 UTSW 18 20,230,246 (GRCm39) missense probably benign 0.00
R6997:Dsc1 UTSW 18 20,219,701 (GRCm39) splice site probably null
R7255:Dsc1 UTSW 18 20,230,330 (GRCm39) missense probably benign 0.12
R7456:Dsc1 UTSW 18 20,219,879 (GRCm39) missense probably benign 0.00
R7492:Dsc1 UTSW 18 20,240,737 (GRCm39) missense possibly damaging 0.46
R7503:Dsc1 UTSW 18 20,218,922 (GRCm39) missense probably damaging 1.00
R8030:Dsc1 UTSW 18 20,222,628 (GRCm39) missense probably benign
R8167:Dsc1 UTSW 18 20,230,258 (GRCm39) missense probably damaging 1.00
R8444:Dsc1 UTSW 18 20,222,636 (GRCm39) missense probably benign 0.00
R8701:Dsc1 UTSW 18 20,240,739 (GRCm39) nonsense probably null
R8928:Dsc1 UTSW 18 20,243,225 (GRCm39) missense probably benign 0.01
R9133:Dsc1 UTSW 18 20,234,904 (GRCm39) missense probably benign 0.00
R9144:Dsc1 UTSW 18 20,218,639 (GRCm39) missense possibly damaging 0.95
R9189:Dsc1 UTSW 18 20,232,214 (GRCm39) missense possibly damaging 0.52
R9330:Dsc1 UTSW 18 20,243,214 (GRCm39) missense possibly damaging 0.67
R9372:Dsc1 UTSW 18 20,221,489 (GRCm39) missense probably damaging 1.00
R9565:Dsc1 UTSW 18 20,240,791 (GRCm39) missense probably damaging 0.99
R9685:Dsc1 UTSW 18 20,232,087 (GRCm39) missense possibly damaging 0.88
R9702:Dsc1 UTSW 18 20,227,685 (GRCm39) missense probably benign 0.06
Z1176:Dsc1 UTSW 18 20,247,595 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- ACTGCACTACTATGGTGTGTG -3'
(R):5'- AAGGCATTTCTTCCCTCAGTATAC -3'

Sequencing Primer
(F):5'- TTATGACACATCAACTGGCTACAAC -3'
(R):5'- TTCTTCCCTCAGTATACTACAGAAG -3'
Posted On 2014-06-30