Incidental Mutation 'IGL02002:Dsg2'
ID 183084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsg2
Ensembl Gene ENSMUSG00000044393
Gene Name desmoglein 2
Synonyms D18Ertd293e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL02002
Quality Score
Status
Chromosome 18
Chromosomal Location 20691131-20737578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20712233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 123 (D123G)
Ref Sequence ENSEMBL: ENSMUSP00000113029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102] [ENSMUST00000121837]
AlphaFold O55111
Predicted Effect probably damaging
Transcript: ENSMUST00000059787
AA Change: D123G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: D123G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 75 162 2.39e-8 SMART
CA 186 275 5.17e-27 SMART
CA 298 392 1.94e-8 SMART
CA 418 502 2.34e-16 SMART
transmembrane domain 618 640 N/A INTRINSIC
low complexity region 822 838 N/A INTRINSIC
low complexity region 914 928 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120102
AA Change: D123G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: D123G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 75 162 2.39e-8 SMART
CA 186 275 5.17e-27 SMART
Pfam:Cadherin 282 347 6.9e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121837
AA Change: D123G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: D123G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 75 162 2.39e-8 SMART
CA 186 275 5.17e-27 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein die in utero. Mutant mice lacking a part of the extracellular adhesive domain of the encoded protein develop cardiac fibrosis and dilation. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality before somite formation, impaired cell proliferation, and increased apoptosis. Heterozygous mutation of this gene also results in embryonic lethality before somite formation with partial penetrance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G T 17: 84,989,479 (GRCm39) Y76* probably null Het
Acadsb T A 7: 131,030,258 (GRCm39) V135E probably damaging Het
Acap1 A G 11: 69,775,286 (GRCm39) Y326H probably damaging Het
Actl11 T A 9: 107,806,529 (GRCm39) V284D probably benign Het
Adcy10 G T 1: 165,349,412 (GRCm39) D428Y probably damaging Het
Akap8 A G 17: 32,528,470 (GRCm39) C481R probably damaging Het
Amotl2 G A 9: 102,602,316 (GRCm39) A26T probably damaging Het
Apob T C 12: 8,044,822 (GRCm39) V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 (GRCm39) N148K probably damaging Het
Ccdc149 G A 5: 52,563,421 (GRCm39) T124M probably damaging Het
Cd320 A G 17: 34,062,214 (GRCm39) probably benign Het
Clca4b T C 3: 144,638,194 (GRCm39) T23A probably benign Het
Col22a1 A G 15: 71,682,946 (GRCm39) probably benign Het
Col24a1 T A 3: 145,062,699 (GRCm39) F675I possibly damaging Het
Col6a3 A G 1: 90,709,858 (GRCm39) probably benign Het
Dap3 A T 3: 88,843,535 (GRCm39) M19K probably benign Het
Dysf T A 6: 84,187,769 (GRCm39) probably benign Het
Erbb4 A G 1: 68,119,885 (GRCm39) S853P probably damaging Het
Fbn2 A G 18: 58,247,625 (GRCm39) M423T probably benign Het
Fcgbpl1 A T 7: 27,852,221 (GRCm39) Y1248F probably damaging Het
Fgfr1 T C 8: 26,045,727 (GRCm39) Y112H probably damaging Het
Gbp7 G A 3: 142,244,661 (GRCm39) A203T probably damaging Het
Gon4l C T 3: 88,802,643 (GRCm39) P1085S possibly damaging Het
Gsdma2 T C 11: 98,541,800 (GRCm39) F176L probably damaging Het
Haghl A G 17: 26,003,239 (GRCm39) F131S probably damaging Het
Hmcn1 G A 1: 150,491,049 (GRCm39) P4167S probably damaging Het
Hscb T C 5: 110,978,820 (GRCm39) N199D probably benign Het
Lmbr1l T A 15: 98,802,666 (GRCm39) N428Y probably damaging Het
Mc2r T A 18: 68,540,505 (GRCm39) M263L probably benign Het
Metap1 T A 3: 138,168,150 (GRCm39) T325S probably damaging Het
Mff A G 1: 82,719,696 (GRCm39) R225G probably damaging Het
Naprt A T 15: 75,763,221 (GRCm39) L474Q probably damaging Het
Nin A T 12: 70,109,473 (GRCm39) Y155* probably null Het
Nrg3 A T 14: 38,092,724 (GRCm39) C612* probably null Het
Or2aj5 T C 16: 19,425,300 (GRCm39) I39M possibly damaging Het
Or5p52 A T 7: 107,502,497 (GRCm39) D191V possibly damaging Het
Or6c35 T A 10: 129,168,996 (GRCm39) I82K probably damaging Het
Pdilt A T 7: 119,099,667 (GRCm39) F200L probably damaging Het
Ppard T G 17: 28,517,877 (GRCm39) F315C probably damaging Het
Ror1 T A 4: 100,298,381 (GRCm39) S585T probably damaging Het
Spdye4a T A 5: 143,211,460 (GRCm39) I35F possibly damaging Het
Tenm2 T C 11: 36,097,922 (GRCm39) K442R probably benign Het
Tln2 A G 9: 67,263,980 (GRCm39) I553T probably damaging Het
Tmem269 T A 4: 119,071,338 (GRCm39) I26F probably benign Het
Tsen2 T C 6: 115,536,568 (GRCm39) V108A probably benign Het
Ttyh3 A T 5: 140,615,238 (GRCm39) D383E probably damaging Het
Tut7 A G 13: 59,929,910 (GRCm39) S1042P possibly damaging Het
Usp13 T C 3: 32,901,974 (GRCm39) S102P probably damaging Het
Vmn2r118 T G 17: 55,899,619 (GRCm39) S762R probably damaging Het
Washc4 A G 10: 83,415,407 (GRCm39) N799S possibly damaging Het
Zdhhc17 C T 10: 110,803,550 (GRCm39) V256I probably benign Het
Zfp51 T A 17: 21,684,221 (GRCm39) F279I probably damaging Het
Zzz3 A G 3: 152,157,006 (GRCm39) T223A probably damaging Het
Other mutations in Dsg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Dsg2 APN 18 20,734,826 (GRCm39) missense probably benign 0.10
IGL00979:Dsg2 APN 18 20,715,824 (GRCm39) missense probably damaging 0.99
IGL01081:Dsg2 APN 18 20,722,999 (GRCm39) unclassified probably benign
IGL01358:Dsg2 APN 18 20,734,850 (GRCm39) missense probably damaging 0.98
IGL02263:Dsg2 APN 18 20,723,077 (GRCm39) missense possibly damaging 0.70
IGL02410:Dsg2 APN 18 20,735,189 (GRCm39) missense probably benign 0.04
IGL02553:Dsg2 APN 18 20,725,467 (GRCm39) missense probably damaging 1.00
IGL03036:Dsg2 APN 18 20,712,134 (GRCm39) missense probably damaging 0.99
dissolute UTSW 18 20,729,008 (GRCm39) splice site probably null
Dysjunction UTSW 18 20,715,996 (GRCm39) nonsense probably null
weg UTSW 18 20,713,708 (GRCm39) nonsense probably null
R0094:Dsg2 UTSW 18 20,724,910 (GRCm39) missense probably benign 0.08
R0094:Dsg2 UTSW 18 20,724,910 (GRCm39) missense probably benign 0.08
R0105:Dsg2 UTSW 18 20,735,111 (GRCm39) missense probably benign 0.03
R0105:Dsg2 UTSW 18 20,735,111 (GRCm39) missense probably benign 0.03
R0112:Dsg2 UTSW 18 20,716,099 (GRCm39) missense probably benign 0.02
R0305:Dsg2 UTSW 18 20,715,752 (GRCm39) splice site probably benign
R0380:Dsg2 UTSW 18 20,715,996 (GRCm39) nonsense probably null
R0401:Dsg2 UTSW 18 20,725,565 (GRCm39) splice site probably benign
R0421:Dsg2 UTSW 18 20,712,448 (GRCm39) missense probably damaging 1.00
R0578:Dsg2 UTSW 18 20,727,291 (GRCm39) missense probably benign 0.00
R0667:Dsg2 UTSW 18 20,706,556 (GRCm39) missense possibly damaging 0.50
R1223:Dsg2 UTSW 18 20,706,550 (GRCm39) missense probably benign 0.23
R1433:Dsg2 UTSW 18 20,715,780 (GRCm39) missense probably damaging 0.98
R1543:Dsg2 UTSW 18 20,727,268 (GRCm39) missense probably benign 0.33
R1730:Dsg2 UTSW 18 20,724,937 (GRCm39) missense probably benign 0.01
R1783:Dsg2 UTSW 18 20,724,937 (GRCm39) missense probably benign 0.01
R1946:Dsg2 UTSW 18 20,713,605 (GRCm39) missense probably damaging 1.00
R1991:Dsg2 UTSW 18 20,734,530 (GRCm39) missense probably damaging 1.00
R1992:Dsg2 UTSW 18 20,734,530 (GRCm39) missense probably damaging 1.00
R2027:Dsg2 UTSW 18 20,716,061 (GRCm39) unclassified probably benign
R2109:Dsg2 UTSW 18 20,725,346 (GRCm39) missense probably benign 0.00
R2143:Dsg2 UTSW 18 20,712,218 (GRCm39) missense probably damaging 1.00
R2201:Dsg2 UTSW 18 20,729,111 (GRCm39) missense probably damaging 1.00
R2343:Dsg2 UTSW 18 20,735,355 (GRCm39) missense probably damaging 0.99
R2937:Dsg2 UTSW 18 20,712,185 (GRCm39) missense probably damaging 1.00
R3710:Dsg2 UTSW 18 20,735,174 (GRCm39) missense probably damaging 1.00
R3734:Dsg2 UTSW 18 20,735,004 (GRCm39) missense probably benign 0.41
R3773:Dsg2 UTSW 18 20,724,919 (GRCm39) missense probably damaging 1.00
R4176:Dsg2 UTSW 18 20,713,720 (GRCm39) missense probably benign 0.25
R4213:Dsg2 UTSW 18 20,731,571 (GRCm39) missense probably benign 0.01
R4299:Dsg2 UTSW 18 20,729,008 (GRCm39) splice site probably null
R4515:Dsg2 UTSW 18 20,734,444 (GRCm39) missense probably benign
R4649:Dsg2 UTSW 18 20,735,302 (GRCm39) missense possibly damaging 0.56
R4940:Dsg2 UTSW 18 20,712,487 (GRCm39) missense probably damaging 1.00
R4949:Dsg2 UTSW 18 20,723,241 (GRCm39) missense probably damaging 1.00
R4998:Dsg2 UTSW 18 20,734,578 (GRCm39) missense probably benign 0.26
R5078:Dsg2 UTSW 18 20,729,140 (GRCm39) critical splice donor site probably null
R5155:Dsg2 UTSW 18 20,731,715 (GRCm39) missense possibly damaging 0.67
R5398:Dsg2 UTSW 18 20,712,190 (GRCm39) missense probably benign 0.45
R5503:Dsg2 UTSW 18 20,713,708 (GRCm39) nonsense probably null
R6133:Dsg2 UTSW 18 20,723,146 (GRCm39) missense probably benign 0.00
R6163:Dsg2 UTSW 18 20,731,726 (GRCm39) critical splice donor site probably null
R6226:Dsg2 UTSW 18 20,712,506 (GRCm39) missense probably damaging 0.98
R6228:Dsg2 UTSW 18 20,727,350 (GRCm39) critical splice donor site probably null
R6241:Dsg2 UTSW 18 20,723,274 (GRCm39) splice site probably null
R6482:Dsg2 UTSW 18 20,734,371 (GRCm39) missense possibly damaging 0.69
R6524:Dsg2 UTSW 18 20,716,093 (GRCm39) missense probably damaging 1.00
R6856:Dsg2 UTSW 18 20,734,859 (GRCm39) missense probably damaging 0.98
R7058:Dsg2 UTSW 18 20,725,332 (GRCm39) missense probably benign 0.00
R7108:Dsg2 UTSW 18 20,734,920 (GRCm39) missense probably damaging 1.00
R7149:Dsg2 UTSW 18 20,712,511 (GRCm39) missense probably damaging 0.98
R7207:Dsg2 UTSW 18 20,734,516 (GRCm39) missense probably damaging 0.99
R7256:Dsg2 UTSW 18 20,724,988 (GRCm39) missense possibly damaging 0.96
R7315:Dsg2 UTSW 18 20,712,217 (GRCm39) missense probably damaging 0.97
R7471:Dsg2 UTSW 18 20,713,675 (GRCm39) missense probably benign 0.08
R7558:Dsg2 UTSW 18 20,727,291 (GRCm39) missense probably benign 0.00
R8094:Dsg2 UTSW 18 20,716,061 (GRCm39) unclassified probably benign
R8118:Dsg2 UTSW 18 20,715,858 (GRCm39) missense probably benign 0.11
R8157:Dsg2 UTSW 18 20,713,606 (GRCm39) missense probably damaging 1.00
R8307:Dsg2 UTSW 18 20,708,121 (GRCm39) missense probably benign 0.19
R8308:Dsg2 UTSW 18 20,708,121 (GRCm39) missense probably benign 0.19
R8488:Dsg2 UTSW 18 20,734,431 (GRCm39) missense probably damaging 1.00
R8520:Dsg2 UTSW 18 20,712,508 (GRCm39) missense probably damaging 1.00
R8669:Dsg2 UTSW 18 20,723,132 (GRCm39) missense probably damaging 1.00
R8675:Dsg2 UTSW 18 20,734,975 (GRCm39) missense possibly damaging 0.75
R8750:Dsg2 UTSW 18 20,708,069 (GRCm39) missense possibly damaging 0.90
R8773:Dsg2 UTSW 18 20,716,056 (GRCm39) missense probably damaging 1.00
R8888:Dsg2 UTSW 18 20,723,126 (GRCm39) missense probably damaging 1.00
R8895:Dsg2 UTSW 18 20,723,126 (GRCm39) missense probably damaging 1.00
R8912:Dsg2 UTSW 18 20,715,878 (GRCm39) missense probably damaging 1.00
R8925:Dsg2 UTSW 18 20,725,535 (GRCm39) missense probably damaging 1.00
R8927:Dsg2 UTSW 18 20,725,535 (GRCm39) missense probably damaging 1.00
R9263:Dsg2 UTSW 18 20,727,223 (GRCm39) missense probably benign 0.33
R9328:Dsg2 UTSW 18 20,715,847 (GRCm39) missense possibly damaging 0.81
Z1176:Dsg2 UTSW 18 20,713,678 (GRCm39) missense probably damaging 1.00
Z1177:Dsg2 UTSW 18 20,735,306 (GRCm39) nonsense probably null
Posted On 2014-05-07