Incidental Mutation 'R7718:Dsc2'
ID 595075
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2b, Dsc2a
MMRRC Submission 045775-MU
Accession Numbers

Genbank: NM_013505; MGI: 103221

Essential gene? Non essential (E-score: 0.000) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 20030633-20059554 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20041778 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 480 (I480N)
Ref Sequence ENSEMBL: ENSMUSP00000042905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [ENSMUST00000128464]
AlphaFold P55292
Predicted Effect probably damaging
Transcript: ENSMUST00000039247
AA Change: I480N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: I480N

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: I480N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: I480N

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 benign
Transcript: ENSMUST00000155407
SMART Domains Protein: ENSMUSP00000116063
Gene: ENSMUSG00000024331

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 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik G A 6: 50,589,098 (GRCm38) probably null Het
9530053A07Rik T C 7: 28,147,201 (GRCm38) F1106S probably damaging Het
A430033K04Rik A T 5: 138,647,860 (GRCm38) H669L possibly damaging Het
A930017K11Rik T A 17: 25,947,024 (GRCm38) R430* probably null Het
Abcb1a A T 5: 8,715,788 (GRCm38) N700I probably damaging Het
Abcc6 T C 7: 45,977,392 (GRCm38) K1414E possibly damaging Het
Adcy5 T C 16: 35,280,415 (GRCm38) V779A probably benign Het
Agap2 A G 10: 127,079,865 (GRCm38) S82G possibly damaging Het
Aldh1l1 A G 6: 90,598,323 (GRCm38) N864S probably damaging Het
Ang2 A T 14: 51,195,760 (GRCm38) V55E probably benign Het
Ank2 A G 3: 126,965,013 (GRCm38) M179T possibly damaging Het
Atrnl1 T A 19: 57,740,183 (GRCm38) C1090* probably null Het
Atxn1l A G 8: 109,733,234 (GRCm38) L132P probably damaging Het
Bptf A G 11: 107,081,456 (GRCm38) V862A possibly damaging Het
Capn11 C A 17: 45,643,781 (GRCm38) K143N probably damaging Het
Card6 A G 15: 5,099,787 (GRCm38) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm38) A143V probably benign Het
Cntn5 A G 9: 9,984,128 (GRCm38) I160T probably benign Het
Cyp2c40 T A 19: 39,767,338 (GRCm38) N511Y probably benign Het
Elf2 G T 3: 51,265,964 (GRCm38) probably benign Het
Enoph1 T C 5: 100,062,160 (GRCm38) V133A possibly damaging Het
Ezh2 A T 6: 47,554,191 (GRCm38) D186E probably benign Het
Fam196b T C 11: 34,402,539 (GRCm38) S194P probably benign Het
Gfra1 T C 19: 58,453,457 (GRCm38) D14G possibly damaging Het
Gm9573 T C 17: 35,622,836 (GRCm38) T153A unknown Het
Gmip C T 8: 69,817,733 (GRCm38) R698W probably damaging Het
Grk4 A G 5: 34,694,816 (GRCm38) N135D probably benign Het
Hspb6 A G 7: 30,554,347 (GRCm38) D95G probably benign Het
Htatip2 T G 7: 49,770,884 (GRCm38) H159Q possibly damaging Het
Igfn1 T C 1: 135,969,036 (GRCm38) E1264G probably benign Het
Katnb1 T A 8: 95,095,208 (GRCm38) V223E possibly damaging Het
Klra6 AGG AG 6: 130,013,352 (GRCm38) probably null Het
Masp2 C T 4: 148,602,747 (GRCm38) R29C probably damaging Het
Mcm3 A T 1: 20,817,274 (GRCm38) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm38) V2225A probably damaging Het
Me1 A G 9: 86,679,900 (GRCm38) L44S probably damaging Het
Mlxip A G 5: 123,445,514 (GRCm38) N380S probably benign Het
Myh14 C T 7: 44,661,040 (GRCm38) V140I probably damaging Het
Myocd A T 11: 65,218,626 (GRCm38) D106E probably damaging Het
Oat T C 7: 132,558,259 (GRCm38) I411V probably benign Het
Olfr1085 A G 2: 86,658,029 (GRCm38) V143A probably benign Het
Olfr483 T C 7: 108,103,648 (GRCm38) V113A probably benign Het
Olfr715 A T 7: 107,128,718 (GRCm38) V225D probably damaging Het
Orc2 A T 1: 58,480,317 (GRCm38) H246Q possibly damaging Het
Pank4 A G 4: 154,974,643 (GRCm38) E411G probably damaging Het
Patl2 A T 2: 122,126,774 (GRCm38) probably null Het
Pcdhb15 A G 18: 37,475,163 (GRCm38) N483D probably damaging Het
Pcdhb20 A G 18: 37,505,651 (GRCm38) D410G probably damaging Het
Pdcl2 A G 5: 76,317,999 (GRCm38) C125R probably damaging Het
Peli3 C G 19: 4,934,556 (GRCm38) probably null Het
Pkd1 A G 17: 24,586,500 (GRCm38) D3313G probably benign Het
Plec A C 15: 76,177,439 (GRCm38) M2766R probably damaging Het
Ppargc1a C T 5: 51,498,162 (GRCm38) V99M probably damaging Het
Psg19 G A 7: 18,792,443 (GRCm38) A374V probably benign Het
Psmd7 A T 8: 107,586,629 (GRCm38) F54L possibly damaging Het
Ptbp2 C T 3: 119,720,988 (GRCm38) G397R probably null Het
Ranbp3 A G 17: 56,696,718 (GRCm38) D39G probably damaging Het
Rcor3 T C 1: 192,101,721 (GRCm38) T406A probably benign Het
Rhbdl2 T A 4: 123,824,919 (GRCm38) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm38) N197S possibly damaging Het
Rpia A T 6: 70,766,618 (GRCm38) M283K probably damaging Het
Rps6kc1 T C 1: 190,871,825 (GRCm38) D200G probably benign Het
Sipa1l1 A T 12: 82,342,497 (GRCm38) K499M probably damaging Het
Slc5a4b A G 10: 76,070,573 (GRCm38) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 (GRCm38) probably benign Het
St7 A C 6: 17,854,999 (GRCm38) T312P probably damaging Het
Strbp T C 2: 37,625,282 (GRCm38) E244G probably damaging Het
Tbc1d8 T G 1: 39,376,980 (GRCm38) T871P probably benign Het
Tcp1 T A 17: 12,922,162 (GRCm38) I286N probably damaging Het
Tead3 C A 17: 28,333,517 (GRCm38) V327F probably damaging Het
Tmem132c A T 5: 127,563,440 (GRCm38) T892S probably benign Het
Trmt2a T C 16: 18,250,623 (GRCm38) S65P probably benign Het
Ubp1 A G 9: 113,973,529 (GRCm38) N479S possibly damaging Het
Ubtfl1 A T 9: 18,409,231 (GRCm38) L18F possibly damaging Het
Uevld T G 7: 46,938,056 (GRCm38) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm38) Y1561N unknown Het
Ylpm1 A G 12: 85,029,122 (GRCm38) K874E probably damaging Het
Zbtb37 G A 1: 161,032,232 (GRCm38) R168W possibly damaging Het
Other mutations in Dsc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00802:Dsc2 APN 18 20,041,797 (GRCm38) missense probably benign 0.01
IGL00826:Dsc2 APN 18 20,035,315 (GRCm38) missense probably damaging 1.00
IGL00852:Dsc2 APN 18 20,034,683 (GRCm38) missense probably benign 0.01
IGL01082:Dsc2 APN 18 20,043,792 (GRCm38) missense probably damaging 1.00
IGL01328:Dsc2 APN 18 20,048,286 (GRCm38) missense probably damaging 0.98
IGL01338:Dsc2 APN 18 20,047,157 (GRCm38) missense probably benign 0.19
IGL01727:Dsc2 APN 18 20,038,200 (GRCm38) missense probably benign 0.01
IGL01766:Dsc2 APN 18 20,046,342 (GRCm38) missense possibly damaging 0.56
IGL02228:Dsc2 APN 18 20,043,733 (GRCm38) missense probably damaging 0.99
IGL02560:Dsc2 APN 18 20,045,539 (GRCm38) missense probably damaging 1.00
IGL02794:Dsc2 APN 18 20,041,731 (GRCm38) missense probably damaging 1.00
3-1:Dsc2 UTSW 18 20,047,079 (GRCm38) missense possibly damaging 0.60
PIT4305001:Dsc2 UTSW 18 20,046,243 (GRCm38) missense probably damaging 0.96
PIT4431001:Dsc2 UTSW 18 20,046,277 (GRCm38) nonsense probably null
R0288:Dsc2 UTSW 18 20,033,120 (GRCm38) missense probably damaging 1.00
R0542:Dsc2 UTSW 18 20,051,226 (GRCm38) missense probably damaging 0.99
R0562:Dsc2 UTSW 18 20,041,537 (GRCm38) missense probably damaging 0.99
R0697:Dsc2 UTSW 18 20,041,452 (GRCm38) missense probably damaging 0.99
R0940:Dsc2 UTSW 18 20,050,059 (GRCm38) missense probably damaging 0.97
R1081:Dsc2 UTSW 18 20,033,295 (GRCm38) missense probably damaging 0.96
R1140:Dsc2 UTSW 18 20,032,212 (GRCm38) missense probably damaging 1.00
R1515:Dsc2 UTSW 18 20,045,565 (GRCm38) missense probably benign 0.40
R1515:Dsc2 UTSW 18 20,034,701 (GRCm38) missense probably damaging 0.99
R1558:Dsc2 UTSW 18 20,050,151 (GRCm38) missense probably damaging 0.99
R1654:Dsc2 UTSW 18 20,046,246 (GRCm38) missense probably benign 0.01
R2061:Dsc2 UTSW 18 20,032,399 (GRCm38) missense possibly damaging 0.79
R2089:Dsc2 UTSW 18 20,033,294 (GRCm38) missense possibly damaging 0.65
R2091:Dsc2 UTSW 18 20,033,294 (GRCm38) missense possibly damaging 0.65
R2091:Dsc2 UTSW 18 20,033,294 (GRCm38) missense possibly damaging 0.65
R2172:Dsc2 UTSW 18 20,045,502 (GRCm38) missense probably damaging 1.00
R2247:Dsc2 UTSW 18 20,035,312 (GRCm38) missense probably damaging 1.00
R2472:Dsc2 UTSW 18 20,045,469 (GRCm38) missense probably benign 0.00
R2927:Dsc2 UTSW 18 20,045,501 (GRCm38) missense probably damaging 1.00
R3611:Dsc2 UTSW 18 20,032,351 (GRCm38) missense probably damaging 0.99
R3961:Dsc2 UTSW 18 20,051,227 (GRCm38) missense probably damaging 0.98
R3963:Dsc2 UTSW 18 20,051,227 (GRCm38) missense probably damaging 0.98
R4353:Dsc2 UTSW 18 20,050,068 (GRCm38) missense probably damaging 1.00
R4362:Dsc2 UTSW 18 20,050,157 (GRCm38) missense probably damaging 1.00
R4612:Dsc2 UTSW 18 20,041,819 (GRCm38) missense probably damaging 1.00
R4613:Dsc2 UTSW 18 20,041,819 (GRCm38) missense probably damaging 1.00
R4752:Dsc2 UTSW 18 20,038,222 (GRCm38) missense probably damaging 1.00
R4946:Dsc2 UTSW 18 20,050,157 (GRCm38) missense probably damaging 1.00
R5056:Dsc2 UTSW 18 20,050,142 (GRCm38) missense probably damaging 1.00
R5267:Dsc2 UTSW 18 20,034,583 (GRCm38) critical splice donor site probably null
R5445:Dsc2 UTSW 18 20,035,303 (GRCm38) missense possibly damaging 0.76
R5507:Dsc2 UTSW 18 20,046,279 (GRCm38) missense probably damaging 0.96
R5575:Dsc2 UTSW 18 20,035,390 (GRCm38) missense probably damaging 1.00
R5781:Dsc2 UTSW 18 20,032,510 (GRCm38) missense probably benign 0.00
R6102:Dsc2 UTSW 18 20,047,108 (GRCm38) missense probably benign 0.01
R6129:Dsc2 UTSW 18 20,045,430 (GRCm38) missense possibly damaging 0.95
R6362:Dsc2 UTSW 18 20,035,463 (GRCm38) nonsense probably null
R6433:Dsc2 UTSW 18 20,051,175 (GRCm38) critical splice donor site probably null
R6513:Dsc2 UTSW 18 20,046,238 (GRCm38) missense probably benign
R6615:Dsc2 UTSW 18 20,032,519 (GRCm38) missense possibly damaging 0.88
R6619:Dsc2 UTSW 18 20,032,278 (GRCm38) missense probably benign 0.22
R6665:Dsc2 UTSW 18 20,050,148 (GRCm38) missense probably damaging 1.00
R6961:Dsc2 UTSW 18 20,038,222 (GRCm38) missense probably damaging 1.00
R7179:Dsc2 UTSW 18 20,035,275 (GRCm38) critical splice donor site probably null
R7275:Dsc2 UTSW 18 20,051,179 (GRCm38) nonsense probably null
R7352:Dsc2 UTSW 18 20,035,335 (GRCm38) missense probably benign 0.39
R7386:Dsc2 UTSW 18 20,041,926 (GRCm38) missense possibly damaging 0.84
R7496:Dsc2 UTSW 18 20,035,394 (GRCm38) nonsense probably null
R7510:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R7580:Dsc2 UTSW 18 20,050,073 (GRCm38) missense probably damaging 1.00
R7733:Dsc2 UTSW 18 20,048,316 (GRCm38) missense probably benign 0.16
R7733:Dsc2 UTSW 18 20,048,315 (GRCm38) missense probably benign 0.00
R7818:Dsc2 UTSW 18 20,050,132 (GRCm38) missense probably damaging 1.00
R7852:Dsc2 UTSW 18 20,046,285 (GRCm38) missense possibly damaging 0.67
R7998:Dsc2 UTSW 18 20,034,663 (GRCm38) missense possibly damaging 0.87
R8029:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8030:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8031:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8032:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8059:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8060:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8061:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8062:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8063:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8082:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8090:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8114:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8115:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8116:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8117:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8118:Dsc2 UTSW 18 20,032,274 (GRCm38) missense possibly damaging 0.78
R8328:Dsc2 UTSW 18 20,032,519 (GRCm38) missense possibly damaging 0.68
R8545:Dsc2 UTSW 18 20,034,665 (GRCm38) nonsense probably null
R9005:Dsc2 UTSW 18 20,038,094 (GRCm38) missense probably benign 0.00
R9017:Dsc2 UTSW 18 20,043,911 (GRCm38) missense probably damaging 1.00
R9111:Dsc2 UTSW 18 20,034,707 (GRCm38) missense probably benign 0.00
R9396:Dsc2 UTSW 18 20,041,716 (GRCm38) nonsense probably null
R9487:Dsc2 UTSW 18 20,047,219 (GRCm38) missense probably damaging 0.99
R9663:Dsc2 UTSW 18 20,038,148 (GRCm38) missense probably damaging 1.00
Z1088:Dsc2 UTSW 18 20,046,304 (GRCm38) missense probably damaging 0.98
Z1176:Dsc2 UTSW 18 20,035,299 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACAGTGACCCACCCTCTTG -3'
(R):5'- TCTGGACTATGAAGAACGGC -3'

Sequencing Primer
(F):5'- TGTTAACCACAGTGAAGGAACAC -3'
(R):5'- GAACGGCAACAGGTGACCC -3'
Posted On 2019-11-12