Incidental Mutation 'R7818:Dsc2'
ID 601708
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2a, Dsc2b
MMRRC Submission 045872-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7818 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 20163690-20192611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20183189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 76 (D76E)
Ref Sequence ENSEMBL: ENSMUSP00000074702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [ENSMUST00000128464]
AlphaFold P55292
Predicted Effect probably damaging
Transcript: ENSMUST00000039247
AA Change: D76E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: D76E

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: D76E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: D76E

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 damaging
Transcript: ENSMUST00000128464
AA Change: D76E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331
AA Change: D76E

DomainStartEndE-ValueType
Cadherin_pro 31 113 2.82e-37 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 99% (88/89)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,215,519 (GRCm39) R342S probably benign Het
Aatk C T 11: 119,912,281 (GRCm39) V55I probably benign Het
Abhd10 T A 16: 45,557,916 (GRCm39) I128L probably benign Het
Abraxas1 T A 5: 100,954,176 (GRCm39) M325L probably benign Het
Adgrb2 C A 4: 129,908,353 (GRCm39) L1087I probably damaging Het
Adgrb2 C T 4: 129,908,762 (GRCm39) P1124S possibly damaging Het
Akap9 T A 5: 4,063,875 (GRCm39) Y1741* probably null Het
Ap1g2 A T 14: 55,337,181 (GRCm39) V718D probably benign Het
Asph A T 4: 9,475,015 (GRCm39) M637K probably damaging Het
Atp2c1 T C 9: 105,291,956 (GRCm39) I869V probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cacna1e T C 1: 154,274,152 (GRCm39) D2251G probably damaging Het
Camk2b A G 11: 5,927,812 (GRCm39) S413P probably benign Het
Casz1 G A 4: 149,030,533 (GRCm39) C1184Y probably damaging Het
Cbr4 G A 8: 61,940,976 (GRCm39) V32I probably benign Het
Ccdc166 A G 15: 75,852,864 (GRCm39) S368P possibly damaging Het
Ccdc170 A G 10: 4,499,603 (GRCm39) N508S probably benign Het
Ccdc187 A G 2: 26,166,186 (GRCm39) S748P possibly damaging Het
Cdca8 A T 4: 124,820,456 (GRCm39) probably null Het
Cep120 T C 18: 53,856,175 (GRCm39) D414G probably benign Het
Dcp1a G T 14: 30,201,678 (GRCm39) A34S probably damaging Het
Ddit3 C T 10: 127,131,662 (GRCm39) T70I probably benign Het
Dlg2 C G 7: 91,589,225 (GRCm39) A313G probably damaging Het
Dnah9 A T 11: 65,916,037 (GRCm39) V2305D possibly damaging Het
Dock1 T A 7: 134,365,594 (GRCm39) D427E probably damaging Het
Dolpp1 T C 2: 30,286,503 (GRCm39) L141P probably benign Het
Dusp7 C A 9: 106,246,329 (GRCm39) N111K probably benign Het
Fam193a A G 5: 34,622,997 (GRCm39) E1195G possibly damaging Het
Fig4 A G 10: 41,139,162 (GRCm39) L347P probably damaging Het
Frem1 T C 4: 82,932,245 (GRCm39) E152G probably damaging Het
Galnt2 G T 8: 125,056,527 (GRCm39) D234Y probably damaging Het
H1f3 C T 13: 23,739,165 (GRCm39) probably benign Het
Igkv4-59 T C 6: 69,415,475 (GRCm39) T27A possibly damaging Het
Ihh T C 1: 74,985,804 (GRCm39) D227G possibly damaging Het
Il1rap T A 16: 26,517,597 (GRCm39) C266S probably damaging Het
Iqcf4 A T 9: 106,447,738 (GRCm39) L57* probably null Het
Kif2b A G 11: 91,466,952 (GRCm39) S444P probably damaging Het
Lmf1 T G 17: 25,881,565 (GRCm39) I538S probably benign Het
Mical2 A G 7: 111,944,514 (GRCm39) Y948C probably damaging Het
Mr1 G A 1: 155,006,382 (GRCm39) Q322* probably null Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mup6 A G 4: 60,004,884 (GRCm39) T100A probably benign Het
Mybpc1 T A 10: 88,394,529 (GRCm39) D266V probably damaging Het
Myocos T C 1: 162,475,063 (GRCm39) N48S unknown Het
Naf1 G A 8: 67,342,028 (GRCm39) G551E probably damaging Het
Nrarp A G 2: 25,071,250 (GRCm39) N43S possibly damaging Het
Or4a80 A G 2: 89,582,288 (GRCm39) S295P possibly damaging Het
Or5p52 G A 7: 107,502,230 (GRCm39) C102Y probably benign Het
Or7a40 A C 16: 16,491,437 (GRCm39) M136R probably damaging Het
Or7g19 T A 9: 18,856,305 (GRCm39) Y120* probably null Het
Or8b57 T A 9: 40,004,008 (GRCm39) M85L probably damaging Het
Padi3 T A 4: 140,525,453 (GRCm39) T177S possibly damaging Het
Pde3b A G 7: 114,090,675 (GRCm39) M305V probably damaging Het
Pde6a T A 18: 61,414,580 (GRCm39) probably null Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Prph A G 15: 98,955,753 (GRCm39) T446A probably damaging Het
Pwwp2b T C 7: 138,835,240 (GRCm39) V227A probably benign Het
Rev3l T C 10: 39,699,898 (GRCm39) I1465T possibly damaging Het
Rin1 A G 19: 5,102,219 (GRCm39) S243G probably benign Het
Ripor3 A T 2: 167,831,346 (GRCm39) I485N probably benign Het
Rnpc3 G T 3: 113,423,600 (GRCm39) P35Q probably damaging Het
Sbpl G T 17: 24,172,236 (GRCm39) Q228K unknown Het
Scn11a A C 9: 119,613,177 (GRCm39) N804K probably damaging Het
Selenoo A G 15: 88,981,019 (GRCm39) T453A probably damaging Het
Sez6 C T 11: 77,867,728 (GRCm39) P882S probably damaging Het
Skint5 C T 4: 113,799,923 (GRCm39) R82H possibly damaging Het
Slc18a2 A C 19: 59,251,593 (GRCm39) T115P probably benign Het
Slc1a2 A G 2: 102,574,301 (GRCm39) D237G probably benign Het
Spidr T C 16: 15,932,729 (GRCm39) S184G probably damaging Het
Stag3 A T 5: 138,299,705 (GRCm39) Q872L probably benign Het
Suds3 T C 5: 117,253,814 (GRCm39) probably benign Het
Sv2c T A 13: 96,123,328 (GRCm39) K382* probably null Het
Taf2 T C 15: 54,929,326 (GRCm39) I77V probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tdrd3 G T 14: 87,709,636 (GRCm39) C100F probably damaging Het
Tek T A 4: 94,715,953 (GRCm39) H458Q possibly damaging Het
Tes C A 6: 17,099,743 (GRCm39) P246Q probably damaging Het
Tgif1 A T 17: 71,156,603 (GRCm39) probably null Het
Tlr11 A T 14: 50,599,285 (GRCm39) N424Y probably damaging Het
Tmc8 A T 11: 117,682,953 (GRCm39) N626I probably damaging Het
Tmem132c T A 5: 127,641,152 (GRCm39) *1108K probably null Het
Tnks A T 8: 35,340,182 (GRCm39) Y479N probably benign Het
Trip12 C T 1: 84,738,527 (GRCm39) G776D probably damaging Het
Tssk1 A G 16: 17,712,311 (GRCm39) E32G probably benign Het
Ube2o T C 11: 116,434,736 (GRCm39) D575G probably damaging Het
Uckl1 A T 2: 181,216,460 (GRCm39) M16K probably damaging Het
Zfp948 A T 17: 21,807,985 (GRCm39) E392D probably benign Het
Zmynd8 G A 2: 165,684,751 (GRCm39) T167I 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
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
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'- TGTCAGTTAGCCCTAAAGAAACAC -3'
(R):5'- TCACATGCCTTTATTTCAGGACAC -3'

Sequencing Primer
(F):5'- CCAATTACACTCCATGCATATCATC -3'
(R):5'- CATGCCTTTATTTCAGGACACATATC -3'
Posted On 2019-12-03