Incidental Mutation 'R5267:Dsc2'
ID 401808
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2b, Dsc2a
MMRRC Submission 042859-MU
Accession Numbers

Genbank: NM_013505; MGI: 103221

Essential gene? Non essential (E-score: 0.000) question?
Stock # R5267 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 20030633-20059554 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 20034583 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000039247] [ENSMUST00000075214] [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 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
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 98% (86/88)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T C 5: 90,584,857 (GRCm38) F509S probably damaging Het
Abca12 T A 1: 71,335,774 (GRCm38) probably benign Het
Adam15 T G 3: 89,349,899 (GRCm38) probably benign Het
Atp12a T C 14: 56,384,211 (GRCm38) S768P probably damaging Het
Atp8a1 G A 5: 67,762,544 (GRCm38) T393I probably damaging Het
B4galnt4 T G 7: 141,070,611 (GRCm38) I3S probably damaging Het
Bfsp1 G A 2: 143,827,051 (GRCm38) T536I probably benign Het
Brsk1 G T 7: 4,704,709 (GRCm38) W284L probably damaging Het
C87977 A T 4: 144,213,005 (GRCm38) probably benign Het
Cadm3 A T 1: 173,337,102 (GRCm38) D370E probably damaging Het
Cadps2 A G 6: 23,626,668 (GRCm38) I207T possibly damaging Het
Calr4 A C 4: 109,244,076 (GRCm38) T52P probably damaging Het
Catsperg2 G A 7: 29,717,066 (GRCm38) T307M probably damaging Het
Ckap5 T A 2: 91,591,752 (GRCm38) N1166K probably null Het
Clca4a G A 3: 144,953,812 (GRCm38) T761I probably damaging Het
Cnksr3 A T 10: 7,126,633 (GRCm38) probably null Het
Diaph3 A G 14: 86,656,553 (GRCm38) S7P probably benign Het
Dnah7a G A 1: 53,479,692 (GRCm38) P2969S probably damaging Het
Dnaic2 A T 11: 114,740,467 (GRCm38) T221S probably benign Het
Eif4g1 A G 16: 20,685,533 (GRCm38) N789S probably damaging Het
Fn1 C T 1: 71,629,704 (GRCm38) R694H probably damaging Het
Gm5478 G A 15: 101,644,402 (GRCm38) R365C probably damaging Het
Gm5591 A T 7: 38,518,914 (GRCm38) M845K possibly damaging Het
Gm5800 A T 14: 51,713,837 (GRCm38) probably null Het
Gprc5c G T 11: 114,864,267 (GRCm38) V257L possibly damaging Het
H2-Q2 A T 17: 35,343,179 (GRCm38) Y134F probably benign Het
Hcfc1r1 A G 17: 23,674,674 (GRCm38) R76G possibly damaging Het
Hectd4 T C 5: 121,344,824 (GRCm38) I3146T probably benign Het
Herc1 G T 9: 66,461,809 (GRCm38) L2928F probably damaging Het
Hmx3 C T 7: 131,544,169 (GRCm38) A202V probably benign Het
Ikzf3 A T 11: 98,490,580 (GRCm38) M58K probably benign Het
Il20ra A G 10: 19,749,359 (GRCm38) T129A probably damaging Het
Il21 T C 3: 37,227,797 (GRCm38) H66R probably benign Het
Kcnh5 A T 12: 75,087,416 (GRCm38) M453K probably damaging Het
Kdf1 C G 4: 133,528,947 (GRCm38) A325G probably damaging Het
Klhl10 C T 11: 100,447,221 (GRCm38) A262V probably benign Het
Krt81 T A 15: 101,459,459 (GRCm38) N464I probably benign Het
Ksr1 A T 11: 79,020,425 (GRCm38) I698N probably damaging Het
Lrp2 A G 2: 69,548,978 (GRCm38) V130A possibly damaging Het
Mcm2 T C 6: 88,897,450 (GRCm38) T25A probably benign Het
Mrps18c T A 5: 100,803,094 (GRCm38) Y93* probably null Het
Mycl C T 4: 123,000,496 (GRCm38) A363V probably damaging Het
Mylk2 C A 2: 152,913,549 (GRCm38) A211E probably benign Het
Myo5a G A 9: 75,152,010 (GRCm38) D507N probably damaging Het
Myo7b A G 18: 31,998,734 (GRCm38) F470L probably damaging Het
Oas1a A T 5: 120,899,221 (GRCm38) C248S probably benign Het
Olfr1036 T A 2: 86,075,538 (GRCm38) V266E probably benign Het
Olfr1229 C T 2: 89,282,230 (GRCm38) W301* probably null Het
Olfr1471 A G 19: 13,445,111 (GRCm38) Y33C probably damaging Het
Olfr26 G A 9: 38,855,805 (GRCm38) V248M probably damaging Het
Olfr492 A G 7: 108,322,978 (GRCm38) S233P probably damaging Het
Olfr612 T C 7: 103,538,824 (GRCm38) I137V probably benign Het
Olfr701 T C 7: 106,818,808 (GRCm38) S242P probably damaging Het
Otub1 C A 19: 7,199,992 (GRCm38) G67C probably damaging Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Paqr8 A G 1: 20,934,696 (GRCm38) I25V probably benign Het
Pcdh1 A G 18: 38,192,199 (GRCm38) Y897H probably damaging Het
Pde4d T G 13: 109,260,809 (GRCm38) probably benign Het
Pdzd8 C A 19: 59,301,026 (GRCm38) K647N probably damaging Het
Pnkp C T 7: 44,862,403 (GRCm38) S113L probably damaging Het
Praf2 T C X: 7,730,402 (GRCm38) probably benign Het
Psg25 A T 7: 18,524,786 (GRCm38) Y322N possibly damaging Het
Rxrg A G 1: 167,635,766 (GRCm38) E402G probably damaging Het
Selenok T A 14: 29,970,065 (GRCm38) V20E probably benign Het
Sipa1 G A 19: 5,655,758 (GRCm38) T394I probably benign Het
Spag17 A T 3: 100,061,948 (GRCm38) N1247I probably damaging Het
Spata31d1c A G 13: 65,035,904 (GRCm38) D420G probably damaging Het
Syk A G 13: 52,641,926 (GRCm38) K519R probably benign Het
Syne2 A T 12: 75,938,741 (GRCm38) E1654D possibly damaging Het
Tha1 A C 11: 117,869,676 (GRCm38) S241A probably damaging Het
Thsd7a T A 6: 12,379,602 (GRCm38) E941V probably damaging Het
Tjp1 T C 7: 65,323,049 (GRCm38) T548A probably damaging Het
Tube1 C A 10: 39,144,556 (GRCm38) D210E probably benign Het
Vmn1r183 T A 7: 24,055,546 (GRCm38) I258N possibly damaging Het
Vmn1r89 A T 7: 13,220,213 (GRCm38) N292I probably damaging Het
Vmp1 C A 11: 86,663,551 (GRCm38) V79L probably benign Het
Zfp182 T A X: 21,036,366 (GRCm38) D125V possibly damaging Het
Zfp975 T G 7: 42,662,230 (GRCm38) T320P probably damaging Het
Znrf1 G A 8: 111,537,267 (GRCm38) A43T 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
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
R9663:Dsc2 UTSW 18 20,038,148 (GRCm38) missense probably damaging 1.00
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'- GCATGTGCGCTAGAGGATTG -3'
(R):5'- ATTTGATGAGACACTTACAGGAGC -3'

Sequencing Primer
(F):5'- GTAGCACAGCATGTCCAAACTGAG -3'
(R):5'- ATGAGACACTTACAGGAGCCTCTTTC -3'
Posted On 2016-07-06