Incidental Mutation 'R4613:Dsc2'
ID 351013
Institutional Source Beutler Lab
Gene Symbol Dsc2
Ensembl Gene ENSMUSG00000024331
Gene Name desmocollin 2
Synonyms Dsc2b, Dsc2a
MMRRC Submission 041824-MU
Accession Numbers

Genbank: NM_013505; MGI: 103221

Essential gene? Non essential (E-score: 0.000) question?
Stock # R4613 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20030633-20059554 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20041819 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 466 (D466E)
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: D466E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: D466E

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: D466E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: D466E

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: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,128,557 (GRCm38) L130I probably benign Het
Abca9 A G 11: 110,144,784 (GRCm38) V670A probably benign Het
Adad1 A G 3: 37,092,033 (GRCm38) N517D probably damaging Het
Ankle2 T C 5: 110,231,379 (GRCm38) L48P probably benign Het
Aoc3 A T 11: 101,337,659 (GRCm38) probably benign Het
Areg A G 5: 91,143,504 (GRCm38) K102R probably benign Het
Bmp1 T C 14: 70,508,523 (GRCm38) T167A probably damaging Het
C4b C T 17: 34,734,551 (GRCm38) G986D probably benign Het
Caml G T 13: 55,625,142 (GRCm38) G200C probably damaging Het
Ccdc40 A C 11: 119,231,532 (GRCm38) R53S probably benign Het
Cdh22 T A 2: 165,143,656 (GRCm38) I337L probably benign Het
Col12a1 A T 9: 79,647,601 (GRCm38) V2065D probably benign Het
Copg2 A G 6: 30,811,596 (GRCm38) S591P probably benign Het
Cyp2d34 G A 15: 82,616,325 (GRCm38) P438S probably damaging Het
Dchs1 T C 7: 105,772,724 (GRCm38) D163G probably damaging Het
Depdc1b T C 13: 108,363,643 (GRCm38) V230A probably damaging Het
Depdc5 T A 5: 32,975,446 (GRCm38) L1300H probably damaging Het
Dnah10 G T 5: 124,762,869 (GRCm38) probably null Het
Dthd1 A G 5: 62,827,068 (GRCm38) D372G probably damaging Het
Eogt G T 6: 97,134,304 (GRCm38) Q199K probably benign Het
Epha6 C A 16: 59,666,597 (GRCm38) R1029L possibly damaging Het
Eppin C A 2: 164,589,323 (GRCm38) E128* probably null Het
Fam102b A T 3: 109,027,255 (GRCm38) F23I probably benign Het
Fam160b1 C A 19: 57,371,187 (GRCm38) P53Q probably damaging Het
Fgf20 T C 8: 40,286,611 (GRCm38) R33G probably benign Het
Fgg A G 3: 83,010,090 (GRCm38) N142S probably damaging Het
Gba C T 3: 89,208,644 (GRCm38) probably null Het
Gli2 A G 1: 118,837,511 (GRCm38) V970A probably damaging Het
Gramd1b A T 9: 40,307,993 (GRCm38) V508D probably damaging Het
Gucy2c T A 6: 136,708,321 (GRCm38) D898V probably damaging Het
Kcnj15 T C 16: 95,295,794 (GRCm38) Y92H probably damaging Het
L3mbtl3 A T 10: 26,282,795 (GRCm38) S652T unknown Het
Ldb2 G T 5: 44,476,551 (GRCm38) Q326K probably benign Het
Lipi C A 16: 75,560,801 (GRCm38) R292L probably benign Het
Lrrc36 G A 8: 105,449,614 (GRCm38) V207I possibly damaging Het
Lyplal1 C T 1: 186,088,752 (GRCm38) G166D probably benign Het
Map1b A T 13: 99,430,302 (GRCm38) Y1970* probably null Het
Map2 A G 1: 66,425,469 (GRCm38) N287D probably damaging Het
Map3k11 G T 19: 5,697,471 (GRCm38) Q578H probably damaging Het
Map3k11 A T 19: 5,697,470 (GRCm38) Q578L probably benign Het
Map4k4 G A 1: 40,017,191 (GRCm38) S1012N probably benign Het
Mapk13 A T 17: 28,769,452 (GRCm38) N15Y probably damaging Het
Mapk15 G A 15: 75,995,910 (GRCm38) A125T probably damaging Het
Mrgprb1 C A 7: 48,447,708 (GRCm38) R152L possibly damaging Het
Muc5ac T G 7: 141,791,103 (GRCm38) Y104D possibly damaging Het
Myo1h C A 5: 114,351,676 (GRCm38) H647Q probably benign Het
Myo1h A G 5: 114,348,379 (GRCm38) N566S possibly damaging Het
Neo1 A G 9: 58,889,041 (GRCm38) I1201T possibly damaging Het
Nlgn1 T C 3: 25,436,022 (GRCm38) T514A probably benign Het
Olfr120 A G 17: 37,726,696 (GRCm38) Y224C probably damaging Het
Olfr533 A T 7: 140,467,068 (GRCm38) Y289F probably damaging Het
Olfr8 A G 10: 78,956,065 (GRCm38) N287D probably damaging Het
Olfr985 T A 9: 40,127,722 (GRCm38) K80* probably null Het
Orc2 A T 1: 58,500,309 (GRCm38) L57* probably null Het
Otoa G A 7: 121,145,568 (GRCm38) V850M probably damaging Het
Pcnx3 T C 19: 5,667,219 (GRCm38) T1579A possibly damaging Het
Pde5a A T 3: 122,823,093 (GRCm38) Y564F probably damaging Het
Pdxk A C 10: 78,447,919 (GRCm38) I147S probably damaging Het
Pfdn5 A G 15: 102,328,752 (GRCm38) D108G probably benign Het
Pink1 T C 4: 138,317,310 (GRCm38) D342G probably damaging Het
Prkacb A T 3: 146,737,998 (GRCm38) V336E probably damaging Het
Ptpro C A 6: 137,416,836 (GRCm38) S13* probably null Het
Rfng A G 11: 120,782,650 (GRCm38) L215P probably damaging Het
Rpn2 T C 2: 157,302,425 (GRCm38) F336L possibly damaging Het
Sacs A G 14: 61,211,797 (GRCm38) probably null Het
Sirpb1a T A 3: 15,417,037 (GRCm38) Y77F probably benign Het
Skiv2l2 C A 13: 112,921,739 (GRCm38) E53* probably null Het
Slc30a8 A G 15: 52,333,575 (GRCm38) D294G probably benign Het
Sox13 T C 1: 133,388,934 (GRCm38) I212V probably benign Het
Srebf2 T A 15: 82,185,348 (GRCm38) I657N possibly damaging Het
Srsf6 C A 2: 162,933,709 (GRCm38) T146K probably benign Het
Strn4 T C 7: 16,824,163 (GRCm38) V162A possibly damaging Het
Sulf2 T C 2: 166,132,605 (GRCm38) D53G probably damaging Het
Tbc1d8 T A 1: 39,372,708 (GRCm38) I1016F probably damaging Het
Tfrc G T 16: 32,618,657 (GRCm38) A278S probably damaging Het
Tnrc6a T G 7: 123,184,289 (GRCm38) probably null Het
Vmn1r83 T C 7: 12,321,768 (GRCm38) I121V probably benign Het
Vps13d T C 4: 145,131,655 (GRCm38) S2200G possibly damaging Het
Washc2 T A 6: 116,229,269 (GRCm38) D397E probably damaging Het
Wipf3 T C 6: 54,485,555 (GRCm38) L250P probably damaging Het
Xirp1 A G 9: 120,019,682 (GRCm38) F45S probably damaging Het
Xpo5 A G 17: 46,236,963 (GRCm38) T910A probably benign Het
Zfp235 T C 7: 24,141,676 (GRCm38) Y507H probably damaging 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
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
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'- GTTAACCACAGTGAAGGAACAC -3'
(R):5'- TAATGCACTTCACCACCTGG -3'

Sequencing Primer
(F):5'- ACACAAGAAGTATCATGAGTCAAATC -3'
(R):5'- GGTCATCTACGTATTTCTTGTAGC -3'
Posted On 2015-10-08