Incidental Mutation 'R2172:Dsc2'
ID 237586
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2a, Dsc2b
MMRRC Submission 040174-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2172 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20163690-20192611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20178559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 282 (Y282H)
Ref Sequence ENSEMBL: ENSMUSP00000074702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [ENSMUST00000128464]
AlphaFold P55292
Predicted Effect probably damaging
Transcript: ENSMUST00000039247
AA Change: Y282H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: Y282H

DomainStartEndE-ValueType
Cadherin_pro 31 113 2.82e-37 SMART
CA 156 241 4.66e-11 SMART
CA 265 353 1.87e-24 SMART
low complexity region 358 372 N/A INTRINSIC
CA 376 470 1.27e-12 SMART
CA 493 575 4.14e-17 SMART
CA 594 676 1.49e-1 SMART
transmembrane domain 696 718 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000075214
AA Change: Y282H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: Y282H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Cadherin_pro 31 113 2.82e-37 SMART
CA 156 241 4.66e-11 SMART
CA 265 353 1.87e-24 SMART
low complexity region 358 372 N/A INTRINSIC
CA 376 470 1.27e-12 SMART
CA 493 575 4.14e-17 SMART
CA 594 676 1.49e-1 SMART
transmembrane domain 696 718 N/A INTRINSIC
Pfam:Cadherin_C 730 901 3.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128464
SMART Domains Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331

DomainStartEndE-ValueType
Cadherin_pro 31 113 2.82e-37 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 T A 18: 38,123,613 (GRCm39) E441V probably damaging Het
Arfip2 T A 7: 105,287,195 (GRCm39) D64V probably damaging Het
Atg9a C A 1: 75,162,329 (GRCm39) R527L probably damaging Het
Atp1a1 T G 3: 101,497,864 (GRCm39) I308L probably benign Het
Bcan T A 3: 87,903,888 (GRCm39) Y199F probably damaging Het
Bsn T C 9: 107,987,191 (GRCm39) probably benign Het
Ccdc158 A T 5: 92,780,367 (GRCm39) L902H probably damaging Het
Dnah7b A G 1: 46,163,672 (GRCm39) Y492C probably benign Het
Dnah9 G T 11: 65,963,605 (GRCm39) H1783N probably damaging Het
Dpep2 A G 8: 106,715,630 (GRCm39) V320A possibly damaging Het
Egfr C T 11: 16,861,562 (GRCm39) P1114S probably benign Het
Fastkd1 A G 2: 69,530,477 (GRCm39) S560P probably damaging Het
Gm14295 G A 2: 176,502,895 (GRCm39) R795Q possibly damaging Het
Gpr155 C T 2: 73,212,471 (GRCm39) V51I probably benign Het
Gsap G A 5: 21,427,438 (GRCm39) probably null Het
Hecw1 T A 13: 14,552,291 (GRCm39) I103F probably damaging Het
Herc3 T A 6: 58,864,422 (GRCm39) N685K probably damaging Het
Hnrnph1 T A 11: 50,273,643 (GRCm39) D244E probably benign Het
Hydin A G 8: 111,308,681 (GRCm39) E3989G probably benign Het
Ibsp T C 5: 104,458,296 (GRCm39) Y278H probably damaging Het
Ift57 T G 16: 49,579,703 (GRCm39) N291K probably benign Het
Il15ra A G 2: 11,728,382 (GRCm39) T149A possibly damaging Het
Ints5 C T 19: 8,873,646 (GRCm39) T535I possibly damaging Het
Jarid2 T C 13: 45,056,015 (GRCm39) L268P probably damaging Het
Klhdc7a T A 4: 139,693,121 (GRCm39) T609S probably benign Het
Lrrc49 A G 9: 60,509,965 (GRCm39) V429A probably benign Het
Lsm3 T C 6: 91,499,254 (GRCm39) V87A possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Map1a G T 2: 121,138,413 (GRCm39) V2726L probably damaging Het
Marveld3 A C 8: 110,688,478 (GRCm39) S88A probably benign Het
Mcm9 T C 10: 53,424,670 (GRCm39) D640G probably damaging Het
Mettl4 A G 17: 95,040,591 (GRCm39) I399T probably benign Het
Mmp27 T A 9: 7,577,379 (GRCm39) L274* probably null Het
Nacc2 A C 2: 25,950,235 (GRCm39) D500E probably benign Het
Nprl3 T A 11: 32,184,894 (GRCm39) M372L probably benign Het
Or5p6 A T 7: 107,630,674 (GRCm39) I292N probably damaging Het
Otud7b T G 3: 96,060,837 (GRCm39) probably null Het
Pcx G A 19: 4,670,909 (GRCm39) R1070H probably benign Het
Ptprq C T 10: 107,426,855 (GRCm39) W1560* probably null Het
Puf60 A T 15: 75,942,313 (GRCm39) I520N probably damaging Het
Qars1 C T 9: 108,386,399 (GRCm39) R143C probably damaging Het
Rfx3 G A 19: 27,792,894 (GRCm39) Q322* probably null Het
Samd14 G T 11: 94,905,217 (GRCm39) V10L probably benign Het
Setd2 G A 9: 110,378,912 (GRCm39) R909Q probably benign Het
Sh2d4a T C 8: 68,749,316 (GRCm39) S117P probably benign Het
Sharpin C A 15: 76,234,866 (GRCm39) probably benign Het
Skor1 C A 9: 63,052,404 (GRCm39) A494S possibly damaging Het
Slc41a2 T C 10: 83,119,638 (GRCm39) T375A probably benign Het
Sparc G A 11: 55,286,627 (GRCm39) Q324* probably null Het
Spopfm2 T G 3: 94,083,605 (GRCm39) K69Q possibly damaging Het
Srebf1 T C 11: 60,097,328 (GRCm39) T171A probably benign Het
Srrd A G 5: 112,488,988 (GRCm39) I54T possibly damaging Het
Tecpr1 G T 5: 144,133,235 (GRCm39) Q1072K probably damaging Het
Tecpr1 A T 5: 144,148,274 (GRCm39) V377E probably benign Het
Tln1 T A 4: 43,545,721 (GRCm39) H919L probably benign Het
Tm9sf3 C T 19: 41,205,859 (GRCm39) S516N probably damaging Het
Trpa1 T A 1: 14,951,880 (GRCm39) T940S probably benign Het
Trpv4 G A 5: 114,782,771 (GRCm39) R64C probably damaging Het
Tufm A G 7: 126,088,019 (GRCm39) E174G probably benign Het
Urb2 A G 8: 124,757,841 (GRCm39) T1183A probably damaging Het
Virma A T 4: 11,527,843 (GRCm39) M1245L possibly damaging Het
Vmn2r32 T C 7: 7,477,614 (GRCm39) Y259C probably damaging Het
Zfp329 A G 7: 12,544,694 (GRCm39) F277L probably damaging Het
Zfp683 C T 4: 133,783,106 (GRCm39) T190I possibly damaging Het
Other mutations in Dsc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00802:Dsc2 APN 18 20,174,854 (GRCm39) missense probably benign 0.01
IGL00826:Dsc2 APN 18 20,168,372 (GRCm39) missense probably damaging 1.00
IGL00852:Dsc2 APN 18 20,167,740 (GRCm39) missense probably benign 0.01
IGL01082:Dsc2 APN 18 20,176,849 (GRCm39) missense probably damaging 1.00
IGL01328:Dsc2 APN 18 20,181,343 (GRCm39) missense probably damaging 0.98
IGL01338:Dsc2 APN 18 20,180,214 (GRCm39) missense probably benign 0.19
IGL01727:Dsc2 APN 18 20,171,257 (GRCm39) missense probably benign 0.01
IGL01766:Dsc2 APN 18 20,179,399 (GRCm39) missense possibly damaging 0.56
IGL02228:Dsc2 APN 18 20,176,790 (GRCm39) missense probably damaging 0.99
IGL02560:Dsc2 APN 18 20,178,596 (GRCm39) missense probably damaging 1.00
IGL02794:Dsc2 APN 18 20,174,788 (GRCm39) missense probably damaging 1.00
3-1:Dsc2 UTSW 18 20,180,136 (GRCm39) missense possibly damaging 0.60
PIT4305001:Dsc2 UTSW 18 20,179,300 (GRCm39) missense probably damaging 0.96
PIT4431001:Dsc2 UTSW 18 20,179,334 (GRCm39) nonsense probably null
R0288:Dsc2 UTSW 18 20,166,177 (GRCm39) missense probably damaging 1.00
R0542:Dsc2 UTSW 18 20,184,283 (GRCm39) missense probably damaging 0.99
R0562:Dsc2 UTSW 18 20,174,594 (GRCm39) missense probably damaging 0.99
R0697:Dsc2 UTSW 18 20,174,509 (GRCm39) missense probably damaging 0.99
R0940:Dsc2 UTSW 18 20,183,116 (GRCm39) missense probably damaging 0.97
R1081:Dsc2 UTSW 18 20,166,352 (GRCm39) missense probably damaging 0.96
R1140:Dsc2 UTSW 18 20,165,269 (GRCm39) missense probably damaging 1.00
R1515:Dsc2 UTSW 18 20,178,622 (GRCm39) missense probably benign 0.40
R1515:Dsc2 UTSW 18 20,167,758 (GRCm39) missense probably damaging 0.99
R1558:Dsc2 UTSW 18 20,183,208 (GRCm39) missense probably damaging 0.99
R1654:Dsc2 UTSW 18 20,179,303 (GRCm39) missense probably benign 0.01
R2061:Dsc2 UTSW 18 20,165,456 (GRCm39) missense possibly damaging 0.79
R2089:Dsc2 UTSW 18 20,166,351 (GRCm39) missense possibly damaging 0.65
R2091:Dsc2 UTSW 18 20,166,351 (GRCm39) missense possibly damaging 0.65
R2091:Dsc2 UTSW 18 20,166,351 (GRCm39) missense possibly damaging 0.65
R2247:Dsc2 UTSW 18 20,168,369 (GRCm39) missense probably damaging 1.00
R2472:Dsc2 UTSW 18 20,178,526 (GRCm39) missense probably benign 0.00
R2927:Dsc2 UTSW 18 20,178,558 (GRCm39) missense probably damaging 1.00
R3611:Dsc2 UTSW 18 20,165,408 (GRCm39) missense probably damaging 0.99
R3961:Dsc2 UTSW 18 20,184,284 (GRCm39) missense probably damaging 0.98
R3963:Dsc2 UTSW 18 20,184,284 (GRCm39) missense probably damaging 0.98
R4353:Dsc2 UTSW 18 20,183,125 (GRCm39) missense probably damaging 1.00
R4362:Dsc2 UTSW 18 20,183,214 (GRCm39) missense probably damaging 1.00
R4612:Dsc2 UTSW 18 20,174,876 (GRCm39) missense probably damaging 1.00
R4613:Dsc2 UTSW 18 20,174,876 (GRCm39) missense probably damaging 1.00
R4752:Dsc2 UTSW 18 20,171,279 (GRCm39) missense probably damaging 1.00
R4946:Dsc2 UTSW 18 20,183,214 (GRCm39) missense probably damaging 1.00
R5056:Dsc2 UTSW 18 20,183,199 (GRCm39) missense probably damaging 1.00
R5267:Dsc2 UTSW 18 20,167,640 (GRCm39) critical splice donor site probably null
R5445:Dsc2 UTSW 18 20,168,360 (GRCm39) missense possibly damaging 0.76
R5507:Dsc2 UTSW 18 20,179,336 (GRCm39) missense probably damaging 0.96
R5575:Dsc2 UTSW 18 20,168,447 (GRCm39) missense probably damaging 1.00
R5781:Dsc2 UTSW 18 20,165,567 (GRCm39) missense probably benign 0.00
R6102:Dsc2 UTSW 18 20,180,165 (GRCm39) missense probably benign 0.01
R6129:Dsc2 UTSW 18 20,178,487 (GRCm39) missense possibly damaging 0.95
R6362:Dsc2 UTSW 18 20,168,520 (GRCm39) nonsense probably null
R6433:Dsc2 UTSW 18 20,184,232 (GRCm39) critical splice donor site probably null
R6513:Dsc2 UTSW 18 20,179,295 (GRCm39) missense probably benign
R6615:Dsc2 UTSW 18 20,165,576 (GRCm39) missense possibly damaging 0.88
R6619:Dsc2 UTSW 18 20,165,335 (GRCm39) missense probably benign 0.22
R6665:Dsc2 UTSW 18 20,183,205 (GRCm39) missense probably damaging 1.00
R6961:Dsc2 UTSW 18 20,171,279 (GRCm39) missense probably damaging 1.00
R7179:Dsc2 UTSW 18 20,168,332 (GRCm39) critical splice donor site probably null
R7275:Dsc2 UTSW 18 20,184,236 (GRCm39) nonsense probably null
R7352:Dsc2 UTSW 18 20,168,392 (GRCm39) missense probably benign 0.39
R7386:Dsc2 UTSW 18 20,174,983 (GRCm39) missense possibly damaging 0.84
R7496:Dsc2 UTSW 18 20,168,451 (GRCm39) nonsense probably null
R7510:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R7580:Dsc2 UTSW 18 20,183,130 (GRCm39) missense probably damaging 1.00
R7718:Dsc2 UTSW 18 20,174,835 (GRCm39) missense probably damaging 0.98
R7733:Dsc2 UTSW 18 20,181,373 (GRCm39) missense probably benign 0.16
R7733:Dsc2 UTSW 18 20,181,372 (GRCm39) missense probably benign 0.00
R7818:Dsc2 UTSW 18 20,183,189 (GRCm39) missense probably damaging 1.00
R7852:Dsc2 UTSW 18 20,179,342 (GRCm39) missense possibly damaging 0.67
R7998:Dsc2 UTSW 18 20,167,720 (GRCm39) missense possibly damaging 0.87
R8029:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8030:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8031:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8032:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8059:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8060:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8061:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8062:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8063:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8082:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8090:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8114:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8115:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8116:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8117:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8118:Dsc2 UTSW 18 20,165,331 (GRCm39) missense possibly damaging 0.78
R8328:Dsc2 UTSW 18 20,165,576 (GRCm39) missense possibly damaging 0.68
R8545:Dsc2 UTSW 18 20,167,722 (GRCm39) nonsense probably null
R9005:Dsc2 UTSW 18 20,171,151 (GRCm39) missense probably benign 0.00
R9017:Dsc2 UTSW 18 20,176,968 (GRCm39) missense probably damaging 1.00
R9111:Dsc2 UTSW 18 20,167,764 (GRCm39) missense probably benign 0.00
R9396:Dsc2 UTSW 18 20,174,773 (GRCm39) nonsense probably null
R9487:Dsc2 UTSW 18 20,180,276 (GRCm39) missense probably damaging 0.99
R9663:Dsc2 UTSW 18 20,171,205 (GRCm39) missense probably damaging 1.00
Z1088:Dsc2 UTSW 18 20,179,361 (GRCm39) missense probably damaging 0.98
Z1176:Dsc2 UTSW 18 20,168,356 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAATGAGCCATCTCTCCAG -3'
(R):5'- TATAAAGGTTGTGATCCTGCTCTG -3'

Sequencing Primer
(F):5'- AATGAGCCATCTCTCCAGATTTTTG -3'
(R):5'- TGTGATCCTGCTCTGTCAAAAG -3'
Posted On 2014-10-02