Incidental Mutation 'IGL01978:Dsc3'
ID 181762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsc3
Ensembl Gene ENSMUSG00000059898
Gene Name desmocollin 3
Synonyms 5430426I24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01978
Quality Score
Status
Chromosome 18
Chromosomal Location 20093987-20135408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20107253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 456 (R456Q)
Ref Sequence ENSEMBL: ENSMUSP00000153261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115848] [ENSMUST00000225110]
AlphaFold P55850
Predicted Effect possibly damaging
Transcript: ENSMUST00000115848
AA Change: R456Q

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: R456Q

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 possibly damaging
Transcript: ENSMUST00000225110
AA Change: R456Q

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,453,164 (GRCm39) T6S probably damaging Het
Acot5 T C 12: 84,122,172 (GRCm39) V252A possibly damaging Het
Bmper A T 9: 23,292,737 (GRCm39) N349Y probably damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Col9a2 G A 4: 120,901,863 (GRCm39) G139E unknown Het
Cplane1 A T 15: 8,248,866 (GRCm39) N1805I probably damaging Het
Cyp2j8 A C 4: 96,392,246 (GRCm39) probably null Het
Dcbld2 A G 16: 58,284,682 (GRCm39) D612G probably benign Het
Fat2 T C 11: 55,160,972 (GRCm39) T3253A probably benign Het
Hoxc12 T A 15: 102,845,299 (GRCm39) H4Q probably damaging Het
Il6st A G 13: 112,633,891 (GRCm39) E445G possibly damaging Het
Ipo8 T C 6: 148,678,787 (GRCm39) E937G probably benign Het
Kif5a A C 10: 127,081,608 (GRCm39) D185E probably benign Het
Klhl38 T C 15: 58,178,485 (GRCm39) D495G probably damaging Het
Klra5 A G 6: 129,888,393 (GRCm39) V11A probably benign Het
Lrch1 G A 14: 75,023,782 (GRCm39) T581M probably damaging Het
Mecom A G 3: 30,017,315 (GRCm39) I450T probably damaging Het
Mrgprb2 C A 7: 48,202,312 (GRCm39) V138L probably damaging Het
Muc15 G A 2: 110,561,941 (GRCm39) A126T probably benign Het
Mybpc1 A T 10: 88,367,632 (GRCm39) I522K probably damaging Het
Nectin1 G A 9: 43,703,444 (GRCm39) R234H probably damaging Het
Or5b98 T C 19: 12,931,406 (GRCm39) F151S probably benign Het
Or5h22 A T 16: 58,894,630 (GRCm39) I271K probably benign Het
Pdia6 T A 12: 17,324,423 (GRCm39) H91Q possibly damaging Het
Pfkfb4 A T 9: 108,858,010 (GRCm39) H445L probably damaging Het
Pkd1l1 T C 11: 8,911,336 (GRCm39) T314A unknown Het
Rb1cc1 A G 1: 6,308,592 (GRCm39) D159G probably damaging Het
Rhoh T A 5: 66,050,031 (GRCm39) S100R probably benign Het
Rsbn1 T A 3: 103,868,816 (GRCm39) D618E probably damaging Het
Slc25a47 T C 12: 108,817,116 (GRCm39) V4A probably damaging Het
Svs3b T A 2: 164,098,541 (GRCm39) M1L probably benign Het
Thsd7a T C 6: 12,331,005 (GRCm39) N1379S probably benign Het
Tmed3 T C 9: 89,586,806 (GRCm39) D58G probably benign Het
Trh G A 6: 92,219,596 (GRCm39) A240V probably benign Het
Ubox5 A T 2: 130,442,372 (GRCm39) V105E probably benign Het
Vmn2r67 A G 7: 84,800,649 (GRCm39) probably null Het
Vps13c A G 9: 67,837,925 (GRCm39) H1825R probably benign Het
Wasf1 C A 10: 40,812,197 (GRCm39) P329T unknown Het
Wee2 T C 6: 40,432,087 (GRCm39) F219L probably damaging Het
Zp3r T C 1: 130,526,678 (GRCm39) D175G probably damaging Het
Other mutations in Dsc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Dsc3 APN 18 20,118,688 (GRCm39) missense probably null 1.00
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
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
Posted On 2014-05-07