Incidental Mutation 'IGL03036:Dsg2'
ID408692
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 #IGL03036
Quality Score
Status
Chromosome18
Chromosomal Location20558074-20604521 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20579077 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 90 (I90T)
Ref Sequence ENSEMBL: ENSMUSP00000057096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102] [ENSMUST00000121837]
Predicted Effect probably damaging
Transcript: ENSMUST00000059787
AA Change: I90T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: I90T

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 possibly damaging
Transcript: ENSMUST00000120102
AA Change: I90T

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: I90T

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 possibly damaging
Transcript: ENSMUST00000121837
AA Change: I90T

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: I90T

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,585,700 Y145* probably null Het
Afdn T G 17: 13,888,088 I1291S probably benign Het
Arfgap3 T G 15: 83,306,926 I16L possibly damaging Het
Bbs12 T A 3: 37,319,194 H45Q possibly damaging Het
Brpf3 T C 17: 28,824,048 L1021P possibly damaging Het
Cep170 A G 1: 176,769,337 S485P possibly damaging Het
Cgref1 A T 5: 30,933,593 N292K probably damaging Het
Chst3 A T 10: 60,186,439 Y195* probably null Het
Clmn T C 12: 104,774,523 Y125C probably damaging Het
Col13a1 A G 10: 61,893,913 probably null Het
Cpeb3 A T 19: 37,024,948 I688N probably damaging Het
Cpn2 A T 16: 30,260,829 L18H probably benign Het
Crybg3 T A 16: 59,555,179 H1904L possibly damaging Het
Csde1 C T 3: 103,043,839 P249S probably damaging Het
Dcaf1 T C 9: 106,844,140 L377P probably damaging Het
Dmwd A T 7: 19,081,129 K568M probably damaging Het
Dytn A G 1: 63,641,122 I426T probably damaging Het
Edc4 G A 8: 105,887,311 probably null Het
Elac1 G T 18: 73,738,914 Q337K probably benign Het
Exd2 G T 12: 80,489,411 A272S probably damaging Het
F13b A G 1: 139,508,115 I220V possibly damaging Het
Fblim1 G T 4: 141,583,124 R276S possibly damaging Het
Fn1 A C 1: 71,629,773 L671R probably damaging Het
Frem1 A T 4: 82,959,339 F1334I possibly damaging Het
Gm6614 T G 6: 142,008,607 I47L possibly damaging Het
H2-T23 T A 17: 36,032,357 I43F possibly damaging Het
Hp1bp3 G A 4: 138,228,732 G202D probably damaging Het
Kdm5b A G 1: 134,608,937 M632V probably damaging Het
Klra5 T A 6: 129,908,867 S20C probably damaging Het
Lancl1 A T 1: 67,006,915 C276S probably damaging Het
Lect2 A G 13: 56,542,707 *152Q probably null Het
Maff C A 15: 79,357,458 S25* probably null Het
Mtr A G 13: 12,247,377 L171P probably damaging Het
Ndufs1 A T 1: 63,163,696 Y236* probably null Het
Neb A C 2: 52,244,153 Y3273D probably damaging Het
Nup133 A T 8: 123,946,594 I66K probably benign Het
Olfr1215 T C 2: 89,002,115 M58V possibly damaging Het
Psmd14 A G 2: 61,783,861 Y200C probably damaging Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Ptk2b T A 14: 66,173,895 probably benign Het
Pum3 G A 19: 27,421,313 T279M probably damaging Het
Rabl6 C T 2: 25,584,856 G614D probably benign Het
Ripk3 T C 14: 55,787,339 D128G probably benign Het
Serinc4 A T 2: 121,439,558 probably benign Het
Sorbs2 T C 8: 45,782,865 S322P probably benign Het
Srebf1 A T 11: 60,220,458 I29N possibly damaging Het
Stk38l T C 6: 146,768,874 L238S probably damaging Het
Supt20 T A 3: 54,709,302 C298* probably null Het
Tbc1d19 A G 5: 53,897,047 D459G probably damaging Het
Thegl A C 5: 77,016,350 K67Q possibly damaging Het
Ulk2 A T 11: 61,834,834 L139M probably damaging Het
Unc13b A G 4: 43,235,249 N3279S probably damaging Het
Ush2a A G 1: 188,864,621 R3853G possibly damaging Het
Usp7 C T 16: 8,738,214 M24I probably benign Het
Vil1 A G 1: 74,419,612 T131A probably damaging Het
Vmn2r2 C T 3: 64,116,900 M753I probably benign Het
Vmn2r74 A T 7: 85,952,692 Y579* probably null Het
Zdhhc3 A T 9: 123,100,517 Y18N probably damaging Het
Zfp609 C T 9: 65,702,645 S1012N possibly damaging Het
Zfr2 A T 10: 81,242,151 M271L probably benign 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
IGL01081:Dsg2 APN 18 20589942 unclassified probably benign
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
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 On2016-08-02