Incidental Mutation 'R5445:Dsc2'
ID 427433
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2a, Dsc2b
MMRRC Submission 043010-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5445 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20163690-20192611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20168360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 700 (I700V)
Ref Sequence ENSEMBL: ENSMUSP00000074702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [ENSMUST00000128464]
AlphaFold P55292
Predicted Effect possibly damaging
Transcript: ENSMUST00000039247
AA Change: I700V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: I700V

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 possibly damaging
Transcript: ENSMUST00000075214
AA Change: I700V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: I700V

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
Predicted Effect unknown
Transcript: ENSMUST00000155407
AA Change: I99V
SMART Domains Protein: ENSMUSP00000116063
Gene: ENSMUSG00000024331
AA Change: I99V

DomainStartEndE-ValueType
SCOP:d1l3wa5 2 71 2e-3 SMART
Blast:CA 2 76 2e-47 BLAST
transmembrane domain 96 118 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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
Abcg5 A T 17: 84,978,557 (GRCm39) D300E probably damaging Het
Apbb1ip T C 2: 22,725,960 (GRCm39) V244A possibly damaging Het
Arhgap32 T C 9: 32,159,678 (GRCm39) S232P probably benign Het
Atf7ip G A 6: 136,564,255 (GRCm39) V833M probably damaging Het
Casp7 A G 19: 56,421,770 (GRCm39) probably null Het
Ccdc9b T C 2: 118,590,067 (GRCm39) D259G probably damaging Het
Celsr2 T A 3: 108,299,974 (GRCm39) E2911D probably benign Het
Cep350 T C 1: 155,770,469 (GRCm39) D1807G probably benign Het
Cfap251 C T 5: 123,425,240 (GRCm39) T294M probably damaging Het
Chrd A G 16: 20,557,660 (GRCm39) T753A possibly damaging Het
Clasp2 A G 9: 113,733,014 (GRCm39) D971G probably damaging Het
Cnnm2 A G 19: 46,865,727 (GRCm39) T772A possibly damaging Het
Cntn1 A T 15: 92,192,958 (GRCm39) N687Y probably damaging Het
Col6a3 G A 1: 90,709,761 (GRCm39) R1812* probably null Het
Flt3 G A 5: 147,291,905 (GRCm39) Q540* probably null Het
Fmo4 T A 1: 162,632,842 (GRCm39) I170F probably benign Het
Fra10ac1 T A 19: 38,207,910 (GRCm39) D72V possibly damaging Het
Garin2 G A 12: 78,761,890 (GRCm39) E185K probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm2381 T G 7: 42,469,425 (GRCm39) H233P probably damaging Het
Gm5148 T A 3: 37,768,995 (GRCm39) Q75L probably damaging Het
Gm8369 T C 19: 11,482,170 (GRCm39) V27A possibly damaging Het
Gpr157 T C 4: 150,186,825 (GRCm39) S318P probably benign Het
Hectd4 G A 5: 121,404,337 (GRCm39) V405M probably benign Het
Hemgn T C 4: 46,400,738 (GRCm39) R41G probably benign Het
Hhipl1 T A 12: 108,294,467 (GRCm39) L791Q probably damaging Het
Hjurp T G 1: 88,194,038 (GRCm39) K290T probably benign Het
Ifi207 T C 1: 173,555,363 (GRCm39) E773G probably damaging Het
Kcnh6 T C 11: 105,914,685 (GRCm39) Y697H probably damaging Het
Lonrf2 T C 1: 38,846,234 (GRCm39) T313A probably benign Het
Lrba G T 3: 86,275,902 (GRCm39) V1757L probably benign Het
Lrrc24 T C 15: 76,600,306 (GRCm39) T278A probably benign Het
Ltbp2 T C 12: 84,856,428 (GRCm39) I679V probably null Het
Mapk4 G T 18: 74,064,073 (GRCm39) T383K probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mia3 A G 1: 183,117,471 (GRCm39) V208A probably benign Het
Myo15a C A 11: 60,411,603 (GRCm39) C3234* probably null Het
Nlrp1b G T 11: 71,108,701 (GRCm39) Q267K probably benign Het
Nphp3 A G 9: 103,881,922 (GRCm39) K37E probably damaging Het
Nwd2 T C 5: 63,962,681 (GRCm39) M755T probably damaging Het
Or10u4 T A 10: 129,802,158 (GRCm39) H137L probably benign Het
Or52ac1 A G 7: 104,246,028 (GRCm39) F120S probably damaging Het
Or5p58 A G 7: 107,693,949 (GRCm39) V276A possibly damaging Het
Pdlim5 C T 3: 142,058,495 (GRCm39) R83K probably null Het
Plekha5 A T 6: 140,498,459 (GRCm39) R173* probably null Het
Pramel25 T A 4: 143,521,707 (GRCm39) V441E possibly damaging Het
Rbms3 T A 9: 117,080,853 (GRCm39) D6V possibly damaging Het
Rhoq A T 17: 87,271,755 (GRCm39) Y57F probably benign Het
Rrm1 A T 7: 102,100,230 (GRCm39) T204S possibly damaging Het
Slf1 A T 13: 77,239,323 (GRCm39) I447N probably benign Het
Smarcc2 T A 10: 128,323,943 (GRCm39) probably benign Het
Spdye4c C T 2: 128,438,484 (GRCm39) Q281* probably null Het
Tert T A 13: 73,792,403 (GRCm39) M890K probably benign Het
Tln1 C A 4: 43,543,905 (GRCm39) R1198L probably benign Het
Tmco4 A G 4: 138,748,178 (GRCm39) M253V probably damaging Het
Usp19 G T 9: 108,375,119 (GRCm39) V782F possibly damaging Het
Usp33 T A 3: 152,080,260 (GRCm39) S464T probably damaging Het
Usp47 A T 7: 111,673,928 (GRCm39) Y397F probably damaging Het
Vmn1r12 A G 6: 57,136,466 (GRCm39) T144A probably benign Het
Vmn2r90 A T 17: 17,954,386 (GRCm39) H850L probably benign Het
Zfhx3 A T 8: 109,682,842 (GRCm39) Q3427L unknown Het
Zfp236 G T 18: 82,700,281 (GRCm39) Q63K probably benign Het
Zfp7 T A 15: 76,775,054 (GRCm39) C365* probably null Het
Zfp786 T C 6: 47,796,619 (GRCm39) E773G probably 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
R2172:Dsc2 UTSW 18 20,178,559 (GRCm39) missense probably damaging 1.00
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
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'- GTATACTCTGCTGACAAGACAGG -3'
(R):5'- ATTTGGATCCTATGCAGTTCCC -3'

Sequencing Primer
(F):5'- GTTCAGTAGATAAATGCGCTCGCC -3'
(R):5'- CCATTCGAGTTACAGACAGACTTGG -3'
Posted On 2016-09-01