Incidental Mutation 'R7179:Dsc2'
ID 558877
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2a, Dsc2b
MMRRC Submission 045269-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7179 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 20163690-20192611 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 20168332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [ENSMUST00000128464]
AlphaFold P55292
Predicted Effect probably null
Transcript: ENSMUST00000039247
SMART Domains Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331

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
SMART Domains Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331

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
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: 99.5%
  • 20x: 98.1%
Validation Efficiency 100% (76/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot13 A T 13: 25,002,154 (GRCm39) I96K probably benign Het
Adam6a A G 12: 113,509,291 (GRCm39) T555A probably benign Het
Alms1 C T 6: 85,598,351 (GRCm39) P1059L probably benign Het
Apol7c T C 15: 77,409,843 (GRCm39) T368A probably benign Het
Arfgef3 A T 10: 18,475,015 (GRCm39) L1557Q probably damaging Het
Baz2a C T 10: 127,960,326 (GRCm39) R1514W probably damaging Het
Bmp3 T A 5: 99,020,622 (GRCm39) D348E probably damaging Het
Bves A G 10: 45,230,913 (GRCm39) S295G probably damaging Het
Carmil1 A G 13: 24,204,052 (GRCm39) C1328R probably benign Het
Ccnk T A 12: 108,153,517 (GRCm39) Y93N probably damaging Het
Ccr1 A T 9: 123,764,089 (GRCm39) V147D probably damaging Het
Cd24a G A 10: 43,458,636 (GRCm39) G36S probably benign Het
Cep104 A G 4: 154,077,324 (GRCm39) Y569C probably damaging Het
Chd2 A T 7: 73,125,168 (GRCm39) I884N probably damaging Het
Cnst A T 1: 179,406,947 (GRCm39) probably benign Het
Col22a1 A G 15: 71,805,262 (GRCm39) L146P unknown Het
Col25a1 G T 3: 130,323,768 (GRCm39) R321L probably damaging Het
Ctnnd2 T C 15: 30,683,510 (GRCm39) Y504H possibly damaging Het
D3Ertd751e C A 3: 41,703,143 (GRCm39) Q73K probably damaging Het
Eya1 A T 1: 14,373,076 (GRCm39) S14R probably damaging Het
Fam131c A T 4: 141,110,328 (GRCm39) probably null Het
Flvcr2 T C 12: 85,793,965 (GRCm39) F114L possibly damaging Het
Fyn A G 10: 39,408,120 (GRCm39) D321G possibly damaging Het
Galnt5 A C 2: 57,888,621 (GRCm39) M74L probably benign Het
Garin4 G A 1: 190,896,218 (GRCm39) R142C probably damaging Het
Gas2l2 G A 11: 83,313,288 (GRCm39) P675S probably benign Het
Gm9508 G T 10: 77,532,470 (GRCm39) Q200K unknown Het
Greb1l G A 18: 10,544,576 (GRCm39) S1390N probably benign Het
Hdac5 G T 11: 102,095,385 (GRCm39) T430K possibly damaging Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Khnyn C T 14: 56,131,811 (GRCm39) P578S probably damaging Het
Lepr A T 4: 101,602,856 (GRCm39) T215S probably benign Het
Lrfn5 G A 12: 61,890,768 (GRCm39) V686I probably benign Het
Mapkap1 T A 2: 34,408,712 (GRCm39) H233Q possibly damaging Het
Mcm3 A G 1: 20,885,081 (GRCm39) I201T probably damaging Het
Metrnl G A 11: 121,606,734 (GRCm39) R263Q probably damaging Het
Mettl22 A G 16: 8,295,924 (GRCm39) E71G probably benign Het
Muc16 T C 9: 18,553,304 (GRCm39) T4330A probably benign Het
Mug1 A G 6: 121,834,379 (GRCm39) T387A probably benign Het
Myh4 A G 11: 67,135,550 (GRCm39) D379G probably benign Het
Nbas A G 12: 13,455,398 (GRCm39) D1204G possibly damaging Het
Ncor2 T C 5: 125,132,847 (GRCm39) K478E unknown Het
Or14a256 A T 7: 86,265,574 (GRCm39) L93Q possibly damaging Het
Or51d1 A G 7: 102,347,477 (GRCm39) T11A probably benign Het
Or5k1 T A 16: 58,617,250 (GRCm39) I320F probably benign Het
Osbpl7 G A 11: 96,941,662 (GRCm39) V62I probably benign Het
Pak1ip1 A G 13: 41,163,018 (GRCm39) N246S probably damaging Het
Prim1 A G 10: 127,851,845 (GRCm39) Y39C probably damaging Het
Prl3b1 G T 13: 27,427,827 (GRCm39) V46L probably benign Het
Prss54 A T 8: 96,292,199 (GRCm39) S127T probably benign Het
Rasal3 G A 17: 32,611,391 (GRCm39) T912M probably damaging Het
Rrp12 T A 19: 41,872,217 (GRCm39) T420S probably benign Het
Rspo1 A G 4: 124,898,831 (GRCm39) N51D probably damaging Het
Rufy4 A G 1: 74,172,035 (GRCm39) R253G probably benign Het
Scaf1 G A 7: 44,657,167 (GRCm39) R571C unknown Het
Scn2a A T 2: 65,532,323 (GRCm39) H645L probably damaging Het
Sec24b A G 3: 129,782,595 (GRCm39) S1132P probably damaging Het
Slc1a2 A G 2: 102,586,290 (GRCm39) K298R probably damaging Het
Slc25a54 T A 3: 109,014,573 (GRCm39) N230K probably benign Het
Slc27a4 T G 2: 29,705,664 (GRCm39) Y617* probably null Het
Slc2a10 T C 2: 165,357,269 (GRCm39) S310P probably damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spag9 A T 11: 93,980,258 (GRCm39) probably null Het
Spg11 A T 2: 121,932,270 (GRCm39) probably null Het
Sycp2l A G 13: 41,283,258 (GRCm39) T165A probably damaging Het
Syt14 A G 1: 192,615,571 (GRCm39) C189R probably damaging Het
Taar9 A T 10: 23,984,882 (GRCm39) L184Q probably damaging Het
Tkt C T 14: 30,281,815 (GRCm39) P111L probably damaging Het
Trpc1 A T 9: 95,603,197 (GRCm39) L445Q possibly damaging Het
Usp53 A G 3: 122,743,359 (GRCm39) S526P probably benign Het
Vps54 T G 11: 21,248,791 (GRCm39) W447G probably damaging Het
Xirp2 A T 2: 67,340,177 (GRCm39) H806L probably benign Het
Zfp451 A T 1: 33,841,651 (GRCm39) H410Q unknown Het
Zfp688 A G 7: 127,018,484 (GRCm39) C214R probably damaging Het
Zic4 A G 9: 91,261,174 (GRCm39) D143G possibly 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
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'- ATACTCTGCTGACAAGACAGG -3'
(R):5'- CGAGTTACAGACAGACTTGGTC -3'

Sequencing Primer
(F):5'- GTTCAGTAGATAAATGCGCTCGCC -3'
(R):5'- CTGTCCTCAGTAACCACATTGAATG -3'
Posted On 2019-06-26