Incidental Mutation 'R3872:Dsc3'
ID 276645
Institutional Source Beutler Lab
Gene Symbol Dsc3
Ensembl Gene ENSMUSG00000059898
Gene Name desmocollin 3
Synonyms 5430426I24Rik
MMRRC Submission 040790-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3872 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 20093987-20135408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20104565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 587 (K587N)
Ref Sequence ENSEMBL: ENSMUSP00000153261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115848] [ENSMUST00000225110]
AlphaFold P55850
Predicted Effect probably damaging
Transcript: ENSMUST00000115848
AA Change: K587N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: K587N

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 damaging
Transcript: ENSMUST00000225110
AA Change: K587N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (61/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,045 (GRCm39) E1117G possibly damaging Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Bhmt-ps1 T C 4: 26,369,201 (GRCm39) noncoding transcript Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cic T C 7: 24,971,124 (GRCm39) V285A possibly damaging Het
Col19a1 A G 1: 24,614,408 (GRCm39) probably benign Het
Col6a4 T C 9: 105,890,858 (GRCm39) N1812S possibly damaging Het
Cry1 T C 10: 84,969,024 (GRCm39) probably null Het
Dlgap4 T C 2: 156,591,267 (GRCm39) S818P probably benign Het
Dlx5 G T 6: 6,878,209 (GRCm39) P274T probably benign Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Dnah5 A G 15: 28,411,656 (GRCm39) K3675R possibly damaging Het
Dpp6 A G 5: 27,926,056 (GRCm39) Y710C probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Epcam C A 17: 87,947,354 (GRCm39) T36K possibly damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
Eya4 A T 10: 23,031,870 (GRCm39) I251N probably damaging Het
Fbxo21 G A 5: 118,138,394 (GRCm39) V447I possibly damaging Het
Firrm A T 1: 163,814,533 (GRCm39) S137T probably damaging Het
Frg2f1 T A 4: 119,388,155 (GRCm39) T115S possibly damaging Het
Hecw2 A T 1: 53,871,916 (GRCm39) probably benign Het
Igfals G A 17: 25,100,579 (GRCm39) V557I possibly damaging Het
Iqca1 A T 1: 90,017,203 (GRCm39) Y411N probably damaging Het
Itpa T G 2: 130,522,930 (GRCm39) S176A probably damaging Het
Klhl1 A G 14: 96,755,615 (GRCm39) F47L probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Krt34 T C 11: 99,932,243 (GRCm39) H27R probably benign Het
Mia3 T C 1: 183,138,342 (GRCm39) E791G probably benign Het
Mroh2b A T 15: 4,954,543 (GRCm39) K669* probably null Het
Msmo1 C T 8: 65,175,497 (GRCm39) probably null Het
Muc6 T C 7: 141,226,867 (GRCm39) T1387A probably benign Het
Myo1g C T 11: 6,464,886 (GRCm39) V463I possibly damaging Het
Or12d12 T A 17: 37,610,870 (GRCm39) T148S probably benign Het
Or4f6 T C 2: 111,838,668 (GRCm39) T288A possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or5l13 T A 2: 87,779,874 (GRCm39) R234S probably damaging Het
Pde10a C A 17: 8,975,923 (GRCm39) T16K possibly damaging Het
Pfas T C 11: 68,891,089 (GRCm39) T310A probably damaging Het
Phb2 G A 6: 124,693,394 (GRCm39) probably null Het
Plin3 A G 17: 56,591,181 (GRCm39) S200P probably damaging Het
Plxna1 C A 6: 89,309,674 (GRCm39) E1087* probably null Het
Rnf17 G T 14: 56,712,870 (GRCm39) R779L possibly damaging Het
Sacs C T 14: 61,385,517 (GRCm39) T6M probably benign Het
Scfd1 A G 12: 51,438,979 (GRCm39) Y147C probably damaging Het
Septin1 T C 7: 126,814,447 (GRCm39) probably benign Het
Septin5 A G 16: 18,441,723 (GRCm39) L344P probably damaging Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Slc35f1 A G 10: 52,898,006 (GRCm39) D139G possibly damaging Het
Sod3 A G 5: 52,525,631 (GRCm39) Y110C probably damaging Het
Stk35 T C 2: 129,652,495 (GRCm39) V332A possibly damaging Het
Tacc2 C T 7: 130,224,152 (GRCm39) T279M probably benign Het
Tdo2 T C 3: 81,875,393 (GRCm39) E187G probably benign Het
Tmem150b A T 7: 4,727,360 (GRCm39) Y48* probably null Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vmn2r60 C T 7: 41,785,878 (GRCm39) S227L probably benign Het
Vps33a C T 5: 123,669,255 (GRCm39) V549I probably benign Het
Zfp788 T A 7: 41,298,868 (GRCm39) Y449* probably null 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
R1792:Dsc3 UTSW 18 20,120,055 (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
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'- AACCCTCCAATAGTTATTCTGCTG -3'
(R):5'- AGCAGGAGCCATCTTAATCTG -3'

Sequencing Primer
(F):5'- CTGCTGTTTCAAATCACATGAATTG -3'
(R):5'- TATGGCATGCTCCAGTAGTCACAAG -3'
Posted On 2015-04-06