Incidental Mutation 'IGL01081:Dsg2'
ID53155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsg2
Ensembl Gene ENSMUSG00000044393
Gene Namedesmoglein 2
SynonymsD18Ertd293e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.153) question?
Stock #IGL01081
Quality Score
Status
Chromosome18
Chromosomal Location20558074-20604521 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 20589942 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102]
Predicted Effect probably benign
Transcript: ENSMUST00000059787
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393

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 benign
Transcript: ENSMUST00000120102
SMART Domains Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,990,594 L158P probably damaging Het
Aco1 A G 4: 40,197,576 Q860R probably benign Het
Actl11 A T 9: 107,928,982 Q168L possibly damaging Het
Adam26b T C 8: 43,519,938 I676V probably benign Het
Aldoart2 A C 12: 55,566,135 I282L probably benign Het
Capns1 G T 7: 30,190,140 S211R probably benign Het
Cps1 T C 1: 67,206,824 V1158A probably damaging Het
Cryl1 C T 14: 57,286,364 probably null Het
Cxcr5 A G 9: 44,514,310 probably benign Het
Dcaf13 A G 15: 39,118,806 K56E probably damaging Het
Dlx6 T G 6: 6,867,068 S85A probably damaging Het
Dync1li1 T A 9: 114,720,597 S412T possibly damaging Het
Ebf3 C A 7: 137,225,896 probably benign Het
Fads3 T C 19: 10,053,002 I168T probably benign Het
Gm10295 G A 7: 71,350,548 P95S unknown Het
Gm43638 T C 5: 87,486,596 T51A probably damaging Het
Gm5114 G A 7: 39,410,647 probably benign Het
Gucy2c G A 6: 136,702,739 T974M probably damaging Het
Ighv1-19-1 T C 12: 114,708,638 probably benign Het
Kri1 A T 9: 21,280,427 L173Q probably damaging Het
Lztfl1 T C 9: 123,702,273 D210G probably benign Het
Morc2a T A 11: 3,688,149 N958K probably damaging Het
Msl3l2 G A 10: 56,115,925 A249T probably benign Het
Nlrp4a A G 7: 26,449,829 E287G probably benign Het
Nlrp9a A T 7: 26,558,094 N290I possibly damaging Het
Olfr1040 C T 2: 86,146,611 G41D probably benign Het
Olfr1367 T G 13: 21,347,015 L29R probably damaging Het
Olfr1509 A G 14: 52,451,027 T205A probably benign Het
Pcsk7 A G 9: 45,928,707 D731G probably benign Het
Plppr5 T A 3: 117,686,649 probably benign Het
Podxl T C 6: 31,528,704 T135A possibly damaging Het
Pole T G 5: 110,337,240 C407G possibly damaging Het
Prl C A 13: 27,065,041 N224K possibly damaging Het
Prnp A T 2: 131,936,420 probably benign Het
Proser2 A G 2: 6,100,338 *472R probably null Het
Rhag T C 17: 40,811,287 S38P possibly damaging Het
Rnf146 T C 10: 29,347,860 D10G probably damaging Het
Rps3a1 T C 3: 86,141,778 D29G probably benign Het
Sv2a A T 3: 96,189,696 I446F probably benign Het
Tbc1d30 C A 10: 121,267,414 R571L probably damaging Het
Tfrc T A 16: 32,624,828 probably null Het
Tnfaip1 G A 11: 78,528,303 P156S probably damaging Het
Vmn1r226 T C 17: 20,687,904 S133P probably damaging Het
Wnt9b C T 11: 103,732,010 R189K probably damaging Het
Ythdc2 A G 18: 44,850,659 H564R probably benign Het
Zfp442 C A 2: 150,409,347 E211* probably null Het
Other mutations in Dsg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Dsg2 APN 18 20601769 missense probably benign 0.10
IGL00979:Dsg2 APN 18 20582767 missense probably damaging 0.99
IGL01358:Dsg2 APN 18 20601793 missense probably damaging 0.98
IGL02002:Dsg2 APN 18 20579176 missense probably damaging 1.00
IGL02263:Dsg2 APN 18 20590020 missense possibly damaging 0.70
IGL02410:Dsg2 APN 18 20602132 missense probably benign 0.04
IGL02553:Dsg2 APN 18 20592410 missense probably damaging 1.00
IGL03036:Dsg2 APN 18 20579077 missense probably damaging 0.99
dissolute UTSW 18 20595951 splice site probably null
Dysjunction UTSW 18 20582939 nonsense probably null
weg UTSW 18 20580651 nonsense probably null
R0094:Dsg2 UTSW 18 20591853 missense probably benign 0.08
R0094:Dsg2 UTSW 18 20591853 missense probably benign 0.08
R0105:Dsg2 UTSW 18 20602054 missense probably benign 0.03
R0105:Dsg2 UTSW 18 20602054 missense probably benign 0.03
R0112:Dsg2 UTSW 18 20583042 missense probably benign 0.02
R0305:Dsg2 UTSW 18 20582695 splice site probably benign
R0380:Dsg2 UTSW 18 20582939 nonsense probably null
R0401:Dsg2 UTSW 18 20592508 splice site probably benign
R0421:Dsg2 UTSW 18 20579391 missense probably damaging 1.00
R0578:Dsg2 UTSW 18 20594234 missense probably benign 0.00
R0667:Dsg2 UTSW 18 20573499 missense possibly damaging 0.50
R1223:Dsg2 UTSW 18 20573493 missense probably benign 0.23
R1433:Dsg2 UTSW 18 20582723 missense probably damaging 0.98
R1543:Dsg2 UTSW 18 20594211 missense probably benign 0.33
R1730:Dsg2 UTSW 18 20591880 missense probably benign 0.01
R1783:Dsg2 UTSW 18 20591880 missense probably benign 0.01
R1946:Dsg2 UTSW 18 20580548 missense probably damaging 1.00
R1991:Dsg2 UTSW 18 20601473 missense probably damaging 1.00
R1992:Dsg2 UTSW 18 20601473 missense probably damaging 1.00
R2027:Dsg2 UTSW 18 20583004 unclassified probably null
R2109:Dsg2 UTSW 18 20592289 missense probably benign 0.00
R2143:Dsg2 UTSW 18 20579161 missense probably damaging 1.00
R2201:Dsg2 UTSW 18 20596054 missense probably damaging 1.00
R2343:Dsg2 UTSW 18 20602298 missense probably damaging 0.99
R2937:Dsg2 UTSW 18 20579128 missense probably damaging 1.00
R3710:Dsg2 UTSW 18 20602117 missense probably damaging 1.00
R3734:Dsg2 UTSW 18 20601947 missense probably benign 0.41
R3773:Dsg2 UTSW 18 20591862 missense probably damaging 1.00
R4176:Dsg2 UTSW 18 20580663 missense probably benign 0.25
R4213:Dsg2 UTSW 18 20598514 missense probably benign 0.01
R4299:Dsg2 UTSW 18 20595951 splice site probably null
R4515:Dsg2 UTSW 18 20601387 missense probably benign
R4649:Dsg2 UTSW 18 20602245 missense possibly damaging 0.56
R4940:Dsg2 UTSW 18 20579430 missense probably damaging 1.00
R4949:Dsg2 UTSW 18 20590184 missense probably damaging 1.00
R4998:Dsg2 UTSW 18 20601521 missense probably benign 0.26
R5078:Dsg2 UTSW 18 20596083 critical splice donor site probably null
R5155:Dsg2 UTSW 18 20598658 missense possibly damaging 0.67
R5398:Dsg2 UTSW 18 20579133 missense probably benign 0.45
R5503:Dsg2 UTSW 18 20580651 nonsense probably null
R6133:Dsg2 UTSW 18 20590089 missense probably benign 0.00
R6163:Dsg2 UTSW 18 20598669 critical splice donor site probably null
R6226:Dsg2 UTSW 18 20579449 missense probably damaging 0.98
R6228:Dsg2 UTSW 18 20594293 critical splice donor site probably null
R6241:Dsg2 UTSW 18 20590217 splice site probably null
R6482:Dsg2 UTSW 18 20601314 missense possibly damaging 0.69
R6524:Dsg2 UTSW 18 20583036 missense probably damaging 1.00
R6856:Dsg2 UTSW 18 20601802 missense probably damaging 0.98
R7058:Dsg2 UTSW 18 20592275 missense probably benign 0.00
R7108:Dsg2 UTSW 18 20601863 missense probably damaging 1.00
R7149:Dsg2 UTSW 18 20579454 missense probably damaging 0.98
R7207:Dsg2 UTSW 18 20601459 missense probably damaging 0.99
R7256:Dsg2 UTSW 18 20591931 missense possibly damaging 0.96
R7315:Dsg2 UTSW 18 20579160 missense probably damaging 0.97
Posted On2013-06-21