Incidental Mutation 'PIT4431001:Dsc2'
ID 555282
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2a, Dsc2b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4431001 (G1)
Quality Score 201.009
Status Not validated
Chromosome 18
Chromosomal Location 20163690-20192611 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 20179334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 245 (Q245*)
Ref Sequence ENSEMBL: ENSMUSP00000042905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [ENSMUST00000128464]
AlphaFold P55292
Predicted Effect probably null
Transcript: ENSMUST00000039247
AA Change: Q245*
SMART Domains Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: Q245*

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
AA Change: Q245*
SMART Domains Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: Q245*

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
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 90.7%
  • 10x: 84.7%
  • 20x: 71.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A G 5: 146,439,322 (GRCm39) I29V probably benign Het
5730455P16Rik C A 11: 80,254,750 (GRCm39) C357F probably damaging Het
Actr1a A T 19: 46,370,731 (GRCm39) probably null Het
Adcy1 C G 11: 7,014,089 (GRCm39) Q164E possibly damaging Het
Arhgap35 A T 7: 16,295,536 (GRCm39) S1176R possibly damaging Het
Atad2b A G 12: 5,081,795 (GRCm39) T1235A possibly damaging Het
Atosb C A 4: 43,036,024 (GRCm39) G236C probably damaging Het
Atp8a2 T C 14: 59,892,075 (GRCm39) D1091G probably benign Het
Bmp6 T C 13: 38,669,906 (GRCm39) S397P probably benign Het
C3 A T 17: 57,513,242 (GRCm39) N1468K probably benign Het
Ccnjl CGCG CGCGGCG 11: 43,470,534 (GRCm39) probably benign Het
Ccr1 T C 9: 123,764,231 (GRCm39) I100V probably benign Het
Cep162 T A 9: 87,126,398 (GRCm39) R171S probably benign Het
Chd8 T C 14: 52,455,706 (GRCm39) H994R probably damaging Het
Cntn3 T A 6: 102,441,527 (GRCm39) K6N probably benign Het
Cope A G 8: 70,765,417 (GRCm39) E289G probably damaging Het
Cpne8 T G 15: 90,436,178 (GRCm39) E279A probably damaging Het
Cyp11a1 A T 9: 57,923,555 (GRCm39) probably null Het
Dcp2 A G 18: 44,545,638 (GRCm39) K333R probably benign Het
Dpp6 G T 5: 27,836,496 (GRCm39) V329F probably benign Het
Drc1 T A 5: 30,504,417 (GRCm39) D186E probably damaging Het
Eef1e1 T C 13: 38,842,938 (GRCm39) E11G probably damaging Het
Emilin2 G A 17: 71,562,990 (GRCm39) P915S probably benign Het
Fpgt A G 3: 154,792,422 (GRCm39) M535T possibly damaging Het
Fxyd3 G A 7: 30,770,780 (GRCm39) L37F probably damaging Het
Gal3st2c T A 1: 93,935,834 (GRCm39) I62N probably damaging Het
Gdpd3 T C 7: 126,365,647 (GRCm39) I2T probably benign Het
Gm9611 T C 14: 42,115,888 (GRCm39) M169V Het
Ints3 G A 3: 90,303,767 (GRCm39) T720I probably damaging Het
Itpr2 T G 6: 146,256,218 (GRCm39) M992L probably benign Het
L3mbtl2 T A 15: 81,560,508 (GRCm39) H256Q probably benign Het
Lama2 T C 10: 26,977,426 (GRCm39) T1918A probably damaging Het
Lpcat2b G A 5: 107,581,997 (GRCm39) G442D probably damaging Het
Lrp1b C T 2: 40,894,767 (GRCm39) V2268M Het
Macc1 T C 12: 119,410,246 (GRCm39) L338P probably benign Het
Mtmr2 T C 9: 13,704,475 (GRCm39) F201L probably benign Het
Mtr C T 13: 12,227,329 (GRCm39) V772M probably damaging Het
Mtus2 A G 5: 148,013,515 (GRCm39) T103A probably benign Het
Myo5c A G 9: 75,159,853 (GRCm39) I294V possibly damaging Het
Ncam1 A T 9: 49,709,993 (GRCm39) F13I probably benign Het
Or4a75 T C 2: 89,448,201 (GRCm39) I112V probably benign Het
Paqr6 A T 3: 88,273,084 (GRCm39) I52F possibly damaging Het
Pde2a T G 7: 101,151,104 (GRCm39) V271G probably damaging Het
Pde7b T C 10: 20,276,291 (GRCm39) H405R possibly damaging Het
Plxnb1 A G 9: 108,929,786 (GRCm39) Y214C probably damaging Het
Pmp22 T C 11: 63,042,067 (GRCm39) F101L probably benign Het
Pold1 A G 7: 44,188,318 (GRCm39) L520P probably damaging Het
Pramel1 A G 4: 143,124,960 (GRCm39) T295A possibly damaging Het
Psg20 A T 7: 18,408,475 (GRCm39) I415N probably damaging Het
Ptcd2 T A 13: 99,476,527 (GRCm39) R71* probably null Het
Ptgs1 A T 2: 36,130,692 (GRCm39) N197I probably damaging Het
Rbfox3 T C 11: 118,386,047 (GRCm39) D333G probably damaging Het
Rfx7 T A 9: 72,525,253 (GRCm39) H814Q probably benign Het
Rptn TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG 3: 93,304,704 (GRCm39) probably benign Het
Serpina3i A T 12: 104,231,432 (GRCm39) H23L probably benign Het
Sipa1l1 T A 12: 82,443,290 (GRCm39) V860E probably benign Het
Slc12a1 T A 2: 125,032,124 (GRCm39) Y592N possibly damaging Het
Slco2a1 T C 9: 102,927,467 (GRCm39) F120S probably damaging Het
Smyd4 T C 11: 75,294,339 (GRCm39) F740S probably damaging Het
Sppl2a T C 2: 126,765,396 (GRCm39) Y242C probably damaging Het
Sqle A G 15: 59,195,509 (GRCm39) K288R probably benign Het
Tbc1d17 A G 7: 44,494,498 (GRCm39) S246P probably benign Het
Tenm3 G A 8: 48,688,642 (GRCm39) T2315M probably damaging Het
Tgfb1i1 C T 7: 127,848,353 (GRCm39) R191C probably damaging Het
Thumpd3 T A 6: 113,036,939 (GRCm39) N279K probably benign Het
Tmed5 T A 5: 108,277,887 (GRCm39) H95L possibly damaging Het
Tmem161a T C 8: 70,634,674 (GRCm39) L443P probably damaging Het
Ttc38 C A 15: 85,720,328 (GRCm39) Q97K probably benign Het
Unc13c C A 9: 73,656,829 (GRCm39) C1124F probably damaging Het
Vmn2r102 A G 17: 19,896,958 (GRCm39) T102A possibly damaging Het
Vwce G A 19: 10,641,946 (GRCm39) E891K possibly damaging Het
Xkr5 A T 8: 18,984,361 (GRCm39) S394T possibly damaging Het
Zan C T 5: 137,390,326 (GRCm39) C4747Y unknown Het
Zfp804a T C 2: 82,089,536 (GRCm39) F1122L 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
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
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'- GTCTACAGATAACCCATTGGCTG -3'
(R):5'- TGAATTCCATTCCCAGCACC -3'

Sequencing Primer
(F):5'- CGTTGTCAAACCAAGAAACCGG -3'
(R):5'- TTCCATTCCCAGCACCACAAAAG -3'
Posted On 2019-06-07