Incidental Mutation 'R6362:Dsc2'
ID 512556
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2a, Dsc2b
MMRRC Submission 044512-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6362 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 20163690-20192611 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 20168520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 45 (Y45*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [ENSMUST00000128464]
AlphaFold P55292
Predicted Effect probably null
Transcript: ENSMUST00000039247
AA Change: Y646*
SMART Domains Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: Y646*

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 null
Transcript: ENSMUST00000075214
AA Change: Y646*
SMART Domains Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: Y646*

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 probably null
Transcript: ENSMUST00000155407
AA Change: Y45*
SMART Domains Protein: ENSMUSP00000116063
Gene: ENSMUSG00000024331
AA Change: Y45*

DomainStartEndE-ValueType
SCOP:d1l3wa5 2 71 2e-3 SMART
Blast:CA 2 76 2e-47 BLAST
transmembrane domain 96 118 N/A INTRINSIC
Meta Mutation Damage Score 0.9640 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 99% (78/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh5a1 T G 13: 25,102,533 (GRCm39) D310A probably benign Het
Als2cl T A 9: 110,724,514 (GRCm39) probably null Het
Amacr C A 15: 10,984,891 (GRCm39) R170S probably damaging Het
Brwd1 C T 16: 95,803,507 (GRCm39) R2221Q probably damaging Het
Cacna1g A T 11: 94,330,533 (GRCm39) probably null Het
Cd3d G A 9: 44,897,589 (GRCm39) D157N probably damaging Het
Cep131 T C 11: 119,955,516 (GRCm39) D1043G probably damaging Het
Cimip1 T G 2: 173,369,967 (GRCm39) probably null Het
Cit A G 5: 116,024,735 (GRCm39) D326G probably benign Het
Col16a1 G C 4: 129,959,983 (GRCm39) G370R unknown Het
Col6a3 T A 1: 90,738,285 (GRCm39) Y1078F probably damaging Het
Colgalt2 A C 1: 152,347,549 (GRCm39) Y161S probably damaging Het
Cyp2j13 A G 4: 95,959,932 (GRCm39) Y75H probably damaging Het
Daxx G A 17: 34,130,338 (GRCm39) V118I probably damaging Het
Dennd5a G T 7: 109,533,472 (GRCm39) C75* probably null Het
Diaph3 A G 14: 87,009,566 (GRCm39) L1071P probably damaging Het
Disp3 A G 4: 148,338,765 (GRCm39) L802P possibly damaging Het
Dmc1 A G 15: 79,473,024 (GRCm39) V141A probably benign Het
Dspp A G 5: 104,323,900 (GRCm39) I348V probably benign Het
Epb42 C A 2: 120,856,260 (GRCm39) C428F possibly damaging Het
Fam227a G T 15: 79,527,551 (GRCm39) P100Q possibly damaging Het
Fer1l4 C T 2: 155,890,170 (GRCm39) V252I probably benign Het
Fhod1 C A 8: 106,058,273 (GRCm39) probably null Het
Fhod3 G T 18: 24,887,312 (GRCm39) A68S probably benign Het
Gatm T C 2: 122,428,677 (GRCm39) D328G probably benign Het
Gm6401 G T 14: 41,789,727 (GRCm39) H44N probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpr84 G A 15: 103,216,937 (GRCm39) A380V probably damaging Het
Herc1 G T 9: 66,379,190 (GRCm39) W3492L probably damaging Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Jag2 T A 12: 112,883,742 (GRCm39) K246N probably damaging Het
Klhl32 T C 4: 24,629,195 (GRCm39) D524G probably null Het
Lax1 A G 1: 133,608,334 (GRCm39) S136P possibly damaging Het
Lefty1 A G 1: 180,764,725 (GRCm39) K217E probably benign Het
Lgr5 A G 10: 115,314,430 (GRCm39) L169P probably damaging Het
Lrrc37 G C 11: 103,511,478 (GRCm39) N163K unknown Het
Mad1l1 A T 5: 140,300,810 (GRCm39) S29T possibly damaging Het
Man1a T C 10: 53,950,891 (GRCm39) H77R probably benign Het
Met C T 6: 17,558,732 (GRCm39) S1120F probably damaging Het
Mfsd4b2 A T 10: 39,797,605 (GRCm39) I250N probably damaging Het
Myod1 A G 7: 46,026,305 (GRCm39) H70R possibly damaging Het
Neb T C 2: 52,102,704 (GRCm39) N4280S probably benign Het
Nudt6 T C 3: 37,473,638 (GRCm39) T28A possibly damaging Het
Nup85 A G 11: 115,474,560 (GRCm39) E628G probably damaging Het
Oaz3 A T 3: 94,342,295 (GRCm39) D120E probably damaging Het
Or2y3 A T 17: 38,393,620 (GRCm39) M83K probably damaging Het
Or5b102 A T 19: 13,040,709 (GRCm39) probably benign Het
Or5be3 C T 2: 86,863,633 (GRCm39) A311T probably benign Het
Or5m8 C A 2: 85,822,285 (GRCm39) N41K probably damaging Het
Or6c1b A C 10: 129,272,812 (GRCm39) I44L probably damaging Het
Osbpl8 A T 10: 111,108,929 (GRCm39) K404* probably null Het
Pcdhga2 A G 18: 37,803,958 (GRCm39) N601D probably damaging Het
Pld2 T C 11: 70,445,501 (GRCm39) Y638H probably damaging Het
Pramel27 A G 4: 143,579,435 (GRCm39) Y340C probably damaging Het
Prickle2 C G 6: 92,435,596 (GRCm39) V2L possibly damaging Het
Psmd6 G A 14: 14,116,949 (GRCm38) R125C probably benign Het
Rnaset2b G A 17: 7,259,093 (GRCm39) V24I probably benign Het
Rusc2 A T 4: 43,416,416 (GRCm39) D574V probably benign Het
Scn8a T A 15: 100,837,996 (GRCm39) probably null Het
Sec11a T C 7: 80,572,879 (GRCm39) E134G probably benign Het
Senp5 A G 16: 31,808,702 (GRCm39) V157A probably damaging Het
Shkbp1 C T 7: 27,051,120 (GRCm39) probably null Het
Slc43a1 T C 2: 84,690,128 (GRCm39) L435P probably damaging Het
Spn G A 7: 126,735,895 (GRCm39) P204L possibly damaging Het
Srr T A 11: 74,801,028 (GRCm39) Q173L probably damaging Het
Star C G 8: 26,301,835 (GRCm39) T222S probably benign Het
Timm22 T A 11: 76,301,953 (GRCm39) Y93N probably damaging Het
Tmc4 G T 7: 3,678,458 (GRCm39) Q58K probably benign Het
Tmem86b C T 7: 4,632,835 (GRCm39) M1I probably null Het
Tmtc2 A T 10: 105,205,831 (GRCm39) I488N probably damaging Het
Tnxb A T 17: 34,913,362 (GRCm39) Y1792F probably damaging Het
Tph1 T A 7: 46,296,867 (GRCm39) R443W possibly damaging Het
Ttyh1 T A 7: 4,132,323 (GRCm39) V253E possibly damaging Het
Usf3 A G 16: 44,038,940 (GRCm39) D1140G probably benign Het
Usp10 T C 8: 120,668,055 (GRCm39) S118P probably benign Het
Vmn2r63 C T 7: 42,552,721 (GRCm39) C845Y probably benign Het
Vmn2r72 G T 7: 85,400,382 (GRCm39) F222L probably damaging Het
Zfp654 G A 16: 64,606,457 (GRCm39) Q582* probably null Het
Zfp791 C T 8: 85,846,279 (GRCm39) probably benign Het
Zfp879 T A 11: 50,729,302 (GRCm39) D32V 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
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
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'- AGTATCACTTTTCAGACCACTACC -3'
(R):5'- AGGCTTTCAGTTCAGCTACAG -3'

Sequencing Primer
(F):5'- TCACTTTTCAGACCACTACCTATAAG -3'
(R):5'- GCTACAGCTTCAGGAAGGATCC -3'
Posted On 2018-04-27