Incidental Mutation 'R9663:Dsc2'
ID 727724
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2b, Dsc2a
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 20030633-20059554 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20038148 bp (GRCm38)
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: 30,313,946 (GRCm38) S161P probably damaging Het
Alppl2 T A 1: 87,088,031 (GRCm38) H297L probably benign Het
Angptl2 A G 2: 33,228,219 (GRCm38) R2G probably benign Het
Arhgef15 T A 11: 68,954,429 (GRCm38) N199I probably damaging Het
Asns A T 6: 7,680,132 (GRCm38) I328K probably damaging Het
Atad2 G T 15: 58,108,144 (GRCm38) T734K probably benign Het
Capn3 A C 2: 120,486,378 (GRCm38) M283L probably benign Het
Catsperd T A 17: 56,653,751 (GRCm38) C384S possibly damaging Het
Cd101 A G 3: 101,003,906 (GRCm38) V816A probably benign Het
Cd5 T G 19: 10,726,494 (GRCm38) D68A probably benign Het
Ceacam18 G A 7: 43,639,340 (GRCm38) V172M probably damaging Het
Cfap100 G A 6: 90,409,346 (GRCm38) R276C Het
Clip2 C T 5: 134,504,762 (GRCm38) R487Q probably benign Het
Creb3l2 A G 6: 37,379,991 (GRCm38) V47A probably damaging Het
Crebbp T A 16: 4,115,790 (GRCm38) E1017D probably damaging Het
Cttn T C 7: 144,457,724 (GRCm38) D116G probably damaging Het
Cyp2c65 A G 19: 39,090,626 (GRCm38) probably null Het
Dcaf13 C T 15: 39,118,783 (GRCm38) T48I possibly damaging Het
Dtx3 G A 10: 127,192,649 (GRCm38) T237I probably damaging Het
E130308A19Rik A G 4: 59,719,764 (GRCm38) E432G possibly damaging Het
Eps15 G A 4: 109,322,073 (GRCm38) V219I probably benign Het
Ext1 A G 15: 53,345,060 (GRCm38) S102P probably damaging Het
Fam151a A T 4: 106,747,697 (GRCm38) I419L possibly damaging Het
Fam89a C T 8: 124,751,697 (GRCm38) G38D probably damaging Het
Fdx2 G T 9: 21,073,421 (GRCm38) A29E probably benign Het
Hhla1 G A 15: 65,941,781 (GRCm38) T234I probably damaging Het
Hspb6 G A 7: 30,554,289 (GRCm38) V76M probably damaging Het
Ighmbp2 C A 19: 3,265,325 (GRCm38) K698N probably benign Het
Invs A G 4: 48,426,218 (GRCm38) I1002V probably damaging Het
Itga8 A C 2: 12,191,769 (GRCm38) F612L probably benign Het
Kcnma1 G T 14: 24,003,829 (GRCm38) F99L probably benign Het
Klf11 A G 12: 24,655,732 (GRCm38) Y395C probably damaging Het
Kplce A T 3: 92,868,976 (GRCm38) N133K probably benign Het
Lama4 G A 10: 39,047,948 (GRCm38) E451K probably damaging Het
Lrr1 A G 12: 69,175,110 (GRCm38) Y342C probably damaging Het
Lrrc18 A T 14: 33,009,064 (GRCm38) M187L probably benign Het
Luc7l3 A G 11: 94,296,930 (GRCm38) S311P unknown Het
Lypd3 T A 7: 24,638,924 (GRCm38) S133R probably damaging Het
Mcm5 C T 8: 75,117,540 (GRCm38) S313F probably benign Het
Mug1 T A 6: 121,882,740 (GRCm38) S1233T probably benign Het
Mug1 A T 6: 121,880,504 (GRCm38) E1062D probably benign Het
Myh7 T C 14: 54,983,641 (GRCm38) K942E probably damaging Het
Nedd9 T C 13: 41,316,465 (GRCm38) D404G probably damaging Het
Nisch C A 14: 31,173,668 (GRCm38) A1022S probably damaging Het
Nkx3-1 A G 14: 69,191,872 (GRCm38) D113G probably benign Het
Or1ad6 T C 11: 50,969,338 (GRCm38) F107L probably benign Het
Or6c1b A T 10: 129,437,060 (GRCm38) I83F probably damaging Het
Or6c215 A G 10: 129,801,628 (GRCm38) F299S probably benign Het
Otub1 C T 19: 7,199,448 (GRCm38) G181D probably damaging Het
Palb2 T C 7: 122,127,081 (GRCm38) H522R probably benign Het
Pfpl A T 19: 12,430,095 (GRCm38) D570V probably damaging Het
Phyhd1 A G 2: 30,281,058 (GRCm38) N271S probably damaging Het
Ptprm T C 17: 67,191,296 (GRCm38) Q50R probably benign Het
Rfx2 C A 17: 56,780,895 (GRCm38) V499L possibly damaging Het
Sema5a C T 15: 32,673,400 (GRCm38) Q795* probably null Het
Sf3a2 A G 10: 80,801,475 (GRCm38) N49S probably damaging Het
Sft2d1 T G 17: 8,326,980 (GRCm38) S156A probably benign Het
Slc14a1 C A 18: 78,109,592 (GRCm38) A367S probably damaging Het
Slc25a33 T A 4: 149,752,456 (GRCm38) T144S probably benign Het
Slc7a13 A T 4: 19,818,818 (GRCm38) K6M possibly damaging Het
Spata31e5 G T 1: 28,777,455 (GRCm38) H499N probably benign Het
Tfap2c G A 2: 172,557,293 (GRCm38) D487N probably damaging Het
Thbs1 G A 2: 118,119,416 (GRCm38) R624Q probably damaging Het
Thsd4 A G 9: 59,982,743 (GRCm38) F857S probably damaging Het
Tnfrsf4 A G 4: 156,016,427 (GRCm38) I272V probably benign Het
Trak1 C T 9: 121,391,858 (GRCm38) R45C probably benign Het
Trpm2 A G 10: 77,920,486 (GRCm38) S1167P probably benign Het
Ttc14 A T 3: 33,801,388 (GRCm38) T161S probably benign Het
Ttll1 A G 15: 83,496,378 (GRCm38) V262A possibly damaging Het
Ttn C T 2: 76,885,013 (GRCm38) E7912K unknown Het
Ufsp1 C A 5: 137,295,283 (GRCm38) P165Q possibly damaging Het
Usp19 T G 9: 108,494,695 (GRCm38) L390R probably damaging Het
Vegfc G T 8: 54,181,303 (GRCm38) C339F probably damaging Het
Vmn2r6 A T 3: 64,556,128 (GRCm38) N428K possibly damaging Het
Wdr11 T G 7: 129,608,923 (GRCm38) V517G probably damaging Het
Xkr4 T A 1: 3,216,296 (GRCm38) D557V probably benign Het
Zan C A 5: 137,380,857 (GRCm38) C5327F unknown Het
Zfp770 A T 2: 114,196,468 (GRCm38) N373K probably benign 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
R7718:Dsc2 UTSW 18 20,041,778 (GRCm38) missense probably damaging 0.98
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
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'- GGGCTCACTGACCATTATACC -3'
(R):5'- TCCCAGCGTTGTTGCTCATG -3'

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