Incidental Mutation 'R1792:Dsc3'
ID 201879
Institutional Source Beutler Lab
Gene Symbol Dsc3
Ensembl Gene ENSMUSG00000059898
Gene Name desmocollin 3
Synonyms 5430426I24Rik
MMRRC Submission 039822-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1792 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20093987-20135408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20120055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 201 (V201E)
Ref Sequence ENSEMBL: ENSMUSP00000153261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115848] [ENSMUST00000223946] [ENSMUST00000225110]
AlphaFold P55850
Predicted Effect probably damaging
Transcript: ENSMUST00000115848
AA Change: V201E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: V201E

DomainStartEndE-ValueType
Cadherin_pro 31 113 9.08e-41 SMART
CA 156 241 4.99e-11 SMART
CA 265 353 7.79e-22 SMART
CA 376 471 2.66e-6 SMART
CA 494 576 4.58e-19 SMART
CA 595 677 3.02e-2 SMART
transmembrane domain 692 714 N/A INTRINSIC
Pfam:Cadherin_C 778 895 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223946
Predicted Effect probably damaging
Transcript: ENSMUST00000225110
AA Change: V201E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. Together with desmogleins, the encoded protein forms the transmembrane core of desmosomes, a multiprotein complex involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. Mice lacking the encoded protein exhibit a pre-implantation lethal phenotype. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C T 11: 110,074,870 (GRCm39) V1398I probably benign Het
Ackr3 A T 1: 90,142,620 (GRCm39) N360Y probably benign Het
Acr T G 15: 89,457,346 (GRCm39) M198R probably benign Het
Adamts14 A T 10: 61,054,277 (GRCm39) M585K probably benign Het
Adgrb3 A T 1: 25,267,552 (GRCm39) C853S probably damaging Het
Arhgef28 G T 13: 98,067,694 (GRCm39) S1410R probably benign Het
Asprv1 T A 6: 86,605,354 (GRCm39) F67I possibly damaging Het
Atp8b4 T A 2: 126,167,214 (GRCm39) Y1095F probably benign Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Ccdc57 T C 11: 120,788,707 (GRCm39) Q380R possibly damaging Het
Cdc45 A T 16: 18,626,090 (GRCm39) D142E probably benign Het
Cs A T 10: 128,195,948 (GRCm39) N386Y possibly damaging Het
Dusp26 G T 8: 31,581,963 (GRCm39) R19L probably benign Het
Esyt3 C A 9: 99,240,169 (GRCm39) E92* probably null Het
Ext2 T C 2: 93,534,890 (GRCm39) N625D probably damaging Het
Flvcr2 A T 12: 85,793,929 (GRCm39) K102* probably null Het
Fmnl2 T A 2: 52,932,329 (GRCm39) S103T possibly damaging Het
Fmo4 T A 1: 162,621,859 (GRCm39) I451F probably benign Het
Gak A T 5: 108,733,397 (GRCm39) Y47* probably null Het
Gbp10 A T 5: 105,372,166 (GRCm39) L198Q probably damaging Het
Gm11559 T A 11: 99,755,755 (GRCm39) S135T unknown Het
Gm14496 A T 2: 181,637,946 (GRCm39) D340V probably benign Het
Grin2a T C 16: 9,810,259 (GRCm39) T47A possibly damaging Het
Gtf2ird1 A T 5: 134,395,790 (GRCm39) probably null Het
Herc4 T A 10: 63,081,680 (GRCm39) M1K probably null Het
Hirip3 T A 7: 126,461,792 (GRCm39) V29E probably damaging Het
Hs3st5 A G 10: 36,708,720 (GRCm39) D85G probably benign Het
Htt T A 5: 35,064,543 (GRCm39) S2981T probably damaging Het
Iho1 A C 9: 108,282,111 (GRCm39) S526A possibly damaging Het
Il20ra G A 10: 19,635,384 (GRCm39) V542I probably damaging Het
Itgb2l C A 16: 96,226,282 (GRCm39) C603F probably damaging Het
Klhl41 A C 2: 69,501,146 (GRCm39) K202N probably benign Het
Lct G A 1: 128,255,679 (GRCm39) S121F possibly damaging Het
Lhx6 C T 2: 35,977,387 (GRCm39) G355D probably damaging Het
Limk2 A G 11: 3,308,236 (GRCm39) V121A probably benign Het
Med1 T G 11: 98,048,109 (GRCm39) K896Q probably damaging Het
Muc6 A G 7: 141,214,371 (GRCm39) F2789S probably benign Het
Nemf T A 12: 69,359,343 (GRCm39) Y997F probably damaging Het
Nrap A G 19: 56,367,590 (GRCm39) S296P probably benign Het
Nrxn1 T C 17: 90,896,252 (GRCm39) N961D probably damaging Het
Odad2 T C 18: 7,286,743 (GRCm39) T163A probably benign Het
Or1r1 A C 11: 73,874,673 (GRCm39) S254A probably benign Het
Or6c207 A T 10: 129,105,112 (GRCm39) F27I probably benign Het
Or6y1 T C 1: 174,276,303 (GRCm39) V38A probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdk4 T A 6: 5,489,166 (GRCm39) H247L probably damaging Het
Pkd1l3 T A 8: 110,359,237 (GRCm39) V866E probably damaging Het
Pla2g4e G A 2: 119,998,955 (GRCm39) P803L probably damaging Het
Pnisr T C 4: 21,860,968 (GRCm39) V217A possibly damaging Het
Pole4 G A 6: 82,629,720 (GRCm39) P34L unknown Het
Pole4 G T 6: 82,629,721 (GRCm39) P34T unknown Het
Ptchd3 G A 11: 121,732,377 (GRCm39) W422* probably null Het
Rab1b C T 19: 5,150,513 (GRCm39) A167T probably benign Het
Rasal1 T C 5: 120,802,821 (GRCm39) M359T probably benign Het
Rexo4 T C 2: 26,850,248 (GRCm39) N310D probably benign Het
Rgma C T 7: 73,067,585 (GRCm39) T280M probably damaging Het
Rnaset2a A T 17: 8,364,408 (GRCm39) I43N probably damaging Het
Rtcb A T 10: 85,778,446 (GRCm39) V399E probably damaging Het
Scd4 T G 19: 44,326,013 (GRCm39) Y122* probably null Het
Sirt6 T C 10: 81,462,355 (GRCm39) I15V possibly damaging Het
Slamf8 A T 1: 172,415,526 (GRCm39) V104E possibly damaging Het
Slc12a4 A G 8: 106,678,475 (GRCm39) I285T possibly damaging Het
Slc25a13 G A 6: 6,115,104 (GRCm39) A207V possibly damaging Het
Slc6a21 T C 7: 44,930,155 (GRCm39) S185P probably benign Het
Smarcc2 A C 10: 128,299,740 (GRCm39) N135T probably damaging Het
Susd6 T C 12: 80,921,065 (GRCm39) S221P probably damaging Het
Syne1 C T 10: 4,990,975 (GRCm39) G8418D probably damaging Het
Tasor2 T C 13: 3,640,559 (GRCm39) K193E possibly damaging Het
Tbc1d7 C T 13: 43,318,853 (GRCm39) V95I probably benign Het
Tcerg1l T C 7: 137,963,595 (GRCm39) D225G probably benign Het
Tfip11 A T 5: 112,477,263 (GRCm39) I82F possibly damaging Het
Tmem41a C T 16: 21,755,731 (GRCm39) G192S probably null Het
Trrap G A 5: 144,790,396 (GRCm39) A3619T possibly damaging Het
Tspoap1 G A 11: 87,656,707 (GRCm39) probably null Het
Wfdc21 T C 11: 83,637,883 (GRCm39) S11P probably benign Het
Zc2hc1b A T 10: 13,044,474 (GRCm39) V63E probably damaging Het
Other mutations in Dsc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Dsc3 APN 18 20,118,688 (GRCm39) missense probably null 1.00
IGL01978:Dsc3 APN 18 20,107,253 (GRCm39) missense possibly damaging 0.79
IGL02101:Dsc3 APN 18 20,134,963 (GRCm39) missense probably benign 0.01
IGL02165:Dsc3 APN 18 20,116,709 (GRCm39) missense probably benign 0.06
IGL02543:Dsc3 APN 18 20,098,885 (GRCm39) missense probably benign 0.11
IGL02970:Dsc3 APN 18 20,101,317 (GRCm39) missense probably damaging 1.00
IGL03097:Dsc3 UTSW 18 20,107,105 (GRCm39) missense probably benign 0.30
R0133:Dsc3 UTSW 18 20,104,639 (GRCm39) missense probably damaging 0.96
R0304:Dsc3 UTSW 18 20,114,298 (GRCm39) missense probably damaging 1.00
R0360:Dsc3 UTSW 18 20,104,639 (GRCm39) missense possibly damaging 0.79
R0673:Dsc3 UTSW 18 20,122,647 (GRCm39) missense probably damaging 1.00
R0826:Dsc3 UTSW 18 20,114,229 (GRCm39) missense probably damaging 0.99
R1120:Dsc3 UTSW 18 20,120,034 (GRCm39) missense probably benign 0.05
R1491:Dsc3 UTSW 18 20,120,091 (GRCm39) missense probably damaging 0.99
R1667:Dsc3 UTSW 18 20,124,617 (GRCm39) missense possibly damaging 0.58
R1688:Dsc3 UTSW 18 20,099,284 (GRCm39) missense probably damaging 1.00
R1858:Dsc3 UTSW 18 20,098,773 (GRCm39) missense probably damaging 0.97
R1965:Dsc3 UTSW 18 20,113,729 (GRCm39) missense probably damaging 1.00
R1988:Dsc3 UTSW 18 20,098,903 (GRCm39) missense possibly damaging 0.86
R2049:Dsc3 UTSW 18 20,122,737 (GRCm39) missense possibly damaging 0.65
R2127:Dsc3 UTSW 18 20,101,411 (GRCm39) missense probably benign 0.00
R2143:Dsc3 UTSW 18 20,113,743 (GRCm39) missense possibly damaging 0.81
R2144:Dsc3 UTSW 18 20,113,743 (GRCm39) missense possibly damaging 0.81
R2148:Dsc3 UTSW 18 20,098,695 (GRCm39) missense probably damaging 0.99
R3038:Dsc3 UTSW 18 20,124,617 (GRCm39) missense possibly damaging 0.58
R3872:Dsc3 UTSW 18 20,104,565 (GRCm39) missense probably damaging 0.99
R4229:Dsc3 UTSW 18 20,098,878 (GRCm39) missense probably damaging 1.00
R4298:Dsc3 UTSW 18 20,113,811 (GRCm39) missense possibly damaging 0.62
R4491:Dsc3 UTSW 18 20,134,922 (GRCm39) missense probably benign 0.30
R4590:Dsc3 UTSW 18 20,122,752 (GRCm39) missense probably damaging 1.00
R4615:Dsc3 UTSW 18 20,104,545 (GRCm39) missense possibly damaging 0.67
R5316:Dsc3 UTSW 18 20,096,598 (GRCm39) missense possibly damaging 0.67
R5758:Dsc3 UTSW 18 20,122,591 (GRCm39) missense probably damaging 1.00
R5796:Dsc3 UTSW 18 20,104,558 (GRCm39) missense probably benign 0.01
R5916:Dsc3 UTSW 18 20,120,077 (GRCm39) missense probably damaging 1.00
R6022:Dsc3 UTSW 18 20,099,395 (GRCm39) missense probably damaging 0.97
R6233:Dsc3 UTSW 18 20,098,852 (GRCm39) missense possibly damaging 0.77
R6351:Dsc3 UTSW 18 20,099,348 (GRCm39) missense probably benign 0.05
R6971:Dsc3 UTSW 18 20,099,275 (GRCm39) critical splice donor site probably null
R7261:Dsc3 UTSW 18 20,113,814 (GRCm39) nonsense probably null
R7442:Dsc3 UTSW 18 20,114,213 (GRCm39) missense probably damaging 1.00
R7795:Dsc3 UTSW 18 20,099,288 (GRCm39) missense probably damaging 1.00
R8051:Dsc3 UTSW 18 20,114,270 (GRCm39) missense probably damaging 1.00
R8531:Dsc3 UTSW 18 20,114,274 (GRCm39) missense probably damaging 1.00
R8531:Dsc3 UTSW 18 20,101,449 (GRCm39) missense probably benign
R8872:Dsc3 UTSW 18 20,122,679 (GRCm39) missense probably benign 0.02
R8927:Dsc3 UTSW 18 20,107,234 (GRCm39) missense probably benign
R8928:Dsc3 UTSW 18 20,107,234 (GRCm39) missense probably benign
R9140:Dsc3 UTSW 18 20,122,616 (GRCm39) missense probably benign 0.01
R9493:Dsc3 UTSW 18 20,122,752 (GRCm39) nonsense probably null
X0061:Dsc3 UTSW 18 20,122,684 (GRCm39) missense probably damaging 1.00
Z1177:Dsc3 UTSW 18 20,099,372 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTTTGTCAAGCATTCCAACAC -3'
(R):5'- AAGGCCTTACTCTTACCAACTC -3'

Sequencing Primer
(F):5'- CACACAGTGAATGCTATTCTCCTTAG -3'
(R):5'- CTACTGAAGTGTTGGTAAGATGAAAG -3'
Posted On 2014-06-23