Incidental Mutation 'R9663:Dsc2'
ID 727724
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2a, Dsc2b
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9663 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 20163690-20192611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20171205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 598 (D598V)
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: D598V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: D598V

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: D598V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: D598V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh6 T C 7: 30,013,371 (GRCm39) S161P probably damaging Het
Alppl2 T A 1: 87,015,753 (GRCm39) H297L probably benign Het
Angptl2 A G 2: 33,118,231 (GRCm39) R2G probably benign Het
Arhgef15 T A 11: 68,845,255 (GRCm39) N199I probably damaging Het
Asns A T 6: 7,680,132 (GRCm39) I328K probably damaging Het
Atad2 G T 15: 57,971,540 (GRCm39) T734K probably benign Het
Capn3 A C 2: 120,316,859 (GRCm39) M283L probably benign Het
Catsperd T A 17: 56,960,751 (GRCm39) C384S possibly damaging Het
Cd101 A G 3: 100,911,222 (GRCm39) V816A probably benign Het
Cd5 T G 19: 10,703,858 (GRCm39) D68A probably benign Het
Ceacam18 G A 7: 43,288,764 (GRCm39) V172M probably damaging Het
Cfap100 G A 6: 90,386,328 (GRCm39) R276C Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Creb3l2 A G 6: 37,356,926 (GRCm39) V47A probably damaging Het
Crebbp T A 16: 3,933,654 (GRCm39) E1017D probably damaging Het
Cttn T C 7: 144,011,461 (GRCm39) D116G probably damaging Het
Cyp2c65 A G 19: 39,079,070 (GRCm39) probably null Het
Dcaf13 C T 15: 38,982,178 (GRCm39) T48I possibly damaging Het
Dtx3 G A 10: 127,028,518 (GRCm39) T237I probably damaging Het
E130308A19Rik A G 4: 59,719,764 (GRCm39) E432G possibly damaging Het
Eps15 G A 4: 109,179,270 (GRCm39) V219I probably benign Het
Ext1 A G 15: 53,208,456 (GRCm39) S102P probably damaging Het
Fam151a A T 4: 106,604,894 (GRCm39) I419L possibly damaging Het
Fam89a C T 8: 125,478,436 (GRCm39) G38D probably damaging Het
Fdx2 G T 9: 20,984,717 (GRCm39) A29E probably benign Het
Hhla1 G A 15: 65,813,630 (GRCm39) T234I probably damaging Het
Hspb6 G A 7: 30,253,714 (GRCm39) V76M probably damaging Het
Ighmbp2 C A 19: 3,315,325 (GRCm39) K698N probably benign Het
Invs A G 4: 48,426,218 (GRCm39) I1002V probably damaging Het
Itga8 A C 2: 12,196,580 (GRCm39) F612L probably benign Het
Kcnma1 G T 14: 24,053,897 (GRCm39) F99L probably benign Het
Klf11 A G 12: 24,705,731 (GRCm39) Y395C probably damaging Het
Kplce A T 3: 92,776,283 (GRCm39) N133K probably benign Het
Lama4 G A 10: 38,923,944 (GRCm39) E451K probably damaging Het
Lrr1 A G 12: 69,221,884 (GRCm39) Y342C probably damaging Het
Lrrc18 A T 14: 32,731,021 (GRCm39) M187L probably benign Het
Luc7l3 A G 11: 94,187,756 (GRCm39) S311P unknown Het
Lypd3 T A 7: 24,338,349 (GRCm39) S133R probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mug1 T A 6: 121,859,699 (GRCm39) S1233T probably benign Het
Mug1 A T 6: 121,857,463 (GRCm39) E1062D probably benign Het
Myh7 T C 14: 55,221,098 (GRCm39) K942E probably damaging Het
Nedd9 T C 13: 41,469,941 (GRCm39) D404G probably damaging Het
Nisch C A 14: 30,895,625 (GRCm39) A1022S probably damaging Het
Nkx3-1 A G 14: 69,429,321 (GRCm39) D113G probably benign Het
Or1ad6 T C 11: 50,860,165 (GRCm39) F107L probably benign Het
Or6c1b A T 10: 129,272,929 (GRCm39) I83F probably damaging Het
Or6c215 A G 10: 129,637,497 (GRCm39) F299S probably benign Het
Otub1 C T 19: 7,176,813 (GRCm39) G181D probably damaging Het
Palb2 T C 7: 121,726,304 (GRCm39) H522R probably benign Het
Pfpl A T 19: 12,407,459 (GRCm39) D570V probably damaging Het
Phyhd1 A G 2: 30,171,070 (GRCm39) N271S probably damaging Het
Ptprm T C 17: 67,498,291 (GRCm39) Q50R probably benign Het
Rfx2 C A 17: 57,087,895 (GRCm39) V499L possibly damaging Het
Sema5a C T 15: 32,673,546 (GRCm39) Q795* probably null Het
Sf3a2 A G 10: 80,637,309 (GRCm39) N49S probably damaging Het
Sft2d1 T G 17: 8,545,812 (GRCm39) S156A probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc25a33 T A 4: 149,836,913 (GRCm39) T144S probably benign Het
Slc7a13 A T 4: 19,818,818 (GRCm39) K6M possibly damaging Het
Spata31e5 G T 1: 28,816,536 (GRCm39) H499N probably benign Het
Tfap2c G A 2: 172,399,213 (GRCm39) D487N probably damaging Het
Thbs1 G A 2: 117,949,897 (GRCm39) R624Q probably damaging Het
Thsd4 A G 9: 59,890,026 (GRCm39) F857S probably damaging Het
Tnfrsf4 A G 4: 156,100,884 (GRCm39) I272V probably benign Het
Trak1 C T 9: 121,220,924 (GRCm39) R45C probably benign Het
Trpm2 A G 10: 77,756,320 (GRCm39) S1167P probably benign Het
Ttc14 A T 3: 33,855,537 (GRCm39) T161S probably benign Het
Ttll1 A G 15: 83,380,579 (GRCm39) V262A possibly damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ufsp1 C A 5: 137,293,545 (GRCm39) P165Q possibly damaging Het
Usp19 T G 9: 108,371,894 (GRCm39) L390R probably damaging Het
Vegfc G T 8: 54,634,338 (GRCm39) C339F probably damaging Het
Vmn2r6 A T 3: 64,463,549 (GRCm39) N428K possibly damaging Het
Wdr11 T G 7: 129,210,647 (GRCm39) V517G probably damaging Het
Xkr4 T A 1: 3,286,519 (GRCm39) D557V probably benign Het
Zan C A 5: 137,379,119 (GRCm39) C5327F unknown Het
Zfp770 A T 2: 114,026,949 (GRCm39) N373K probably benign 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
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
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'- GGGCTCACTGACCATTATACC -3'
(R):5'- TCCCAGCGTTGTTGCTCATG -3'

Sequencing Primer
(F):5'- TCTCTTATTTTCCAAGATACACACAC -3'
(R):5'- CTGTATTTGTTGCAGTAACCTATGC -3'
Posted On 2022-10-06