Incidental Mutation 'R0112:Dsg2'
ID 20558
Institutional Source Beutler Lab
Gene Symbol Dsg2
Ensembl Gene ENSMUSG00000044393
Gene Name desmoglein 2
Synonyms D18Ertd293e
MMRRC Submission 038398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R0112 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 18
Chromosomal Location 20691131-20737578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20716099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 317 (F317I)
Ref Sequence ENSEMBL: ENSMUSP00000113153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102] [ENSMUST00000121837]
AlphaFold O55111
Predicted Effect probably benign
Transcript: ENSMUST00000059787
AA Change: F317I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: F317I

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
AA Change: F317I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: F317I

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 benign
Transcript: ENSMUST00000121837
SMART Domains Protein: ENSMUSP00000113029
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
Meta Mutation Damage Score 0.1103 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (86/86)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,815 (GRCm39) Y179F probably benign Het
Abcd4 A G 12: 84,659,673 (GRCm39) probably benign Het
Abhd12b C T 12: 70,227,791 (GRCm39) T191M probably benign Het
Adcy5 A G 16: 34,976,548 (GRCm39) E27G possibly damaging Het
Adgb G A 10: 10,282,902 (GRCm39) probably benign Het
Afdn T C 17: 14,104,899 (GRCm39) S1186P probably damaging Het
Atf6b G T 17: 34,870,600 (GRCm39) R351L probably damaging Het
Axin2 T C 11: 108,830,223 (GRCm39) S348P possibly damaging Het
Bfsp1 A C 2: 143,669,563 (GRCm39) probably null Het
Brd1 A G 15: 88,614,586 (GRCm39) V103A probably benign Het
Ccdc13 C A 9: 121,642,547 (GRCm39) K392N probably damaging Het
Ccdc18 A G 5: 108,321,627 (GRCm39) K577R probably damaging Het
Csmd2 G T 4: 128,389,822 (GRCm39) G2186C probably damaging Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
Defb3 T A 8: 19,343,423 (GRCm39) L12Q probably null Het
Defb7 G T 8: 19,545,186 (GRCm39) probably null Het
Dhx35 T A 2: 158,682,540 (GRCm39) M491K probably damaging Het
Dnah17 T C 11: 117,965,260 (GRCm39) S2261G possibly damaging Het
Dnah5 A C 15: 28,263,825 (GRCm39) E853D probably benign Het
Dner C A 1: 84,560,774 (GRCm39) A23S probably benign Het
Dock5 A C 14: 68,057,090 (GRCm39) S539A probably benign Het
Enox1 A T 14: 77,936,638 (GRCm39) I539F possibly damaging Het
Eogt G A 6: 97,112,245 (GRCm39) probably benign Het
Fbxo22 A G 9: 55,130,630 (GRCm39) T300A probably benign Het
Fes T C 7: 80,033,753 (GRCm39) D166G probably damaging Het
Fn1 A G 1: 71,648,812 (GRCm39) S1366P probably damaging Het
Fndc3a A T 14: 72,777,935 (GRCm39) probably benign Het
Foxh1 T C 15: 76,553,210 (GRCm39) H168R probably benign Het
Galnt14 T G 17: 73,881,979 (GRCm39) probably benign Het
Gdf6 A G 4: 9,844,482 (GRCm39) D2G probably damaging Het
Gp6 C A 7: 4,373,183 (GRCm39) A247S probably benign Het
Gp6 G C 7: 4,374,626 (GRCm39) P232A probably benign Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Gtf2h4 T C 17: 35,981,340 (GRCm39) T198A possibly damaging Het
Helz T C 11: 107,563,774 (GRCm39) probably benign Het
Htr1d A G 4: 136,170,311 (GRCm39) E180G probably benign Het
Igsf10 A G 3: 59,233,429 (GRCm39) V1768A probably benign Het
Ints10 A T 8: 69,279,954 (GRCm39) T694S probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lipc T A 9: 70,727,709 (GRCm39) Y131F probably damaging Het
Litaf G T 16: 10,784,375 (GRCm39) T45K probably damaging Het
Lmo7 A T 14: 102,124,629 (GRCm39) R363* probably null Het
Lrrc37a A T 11: 103,391,739 (GRCm39) Y1229N probably benign Het
Man2a2 C T 7: 80,008,024 (GRCm39) A943T probably damaging Het
Mtor A G 4: 148,565,380 (GRCm39) Y1030C probably damaging Het
Naalad2 G T 9: 18,262,743 (GRCm39) Y384* probably null Het
Nat2 C T 8: 67,954,378 (GRCm39) Q163* probably null Het
Nell2 A G 15: 95,329,562 (GRCm39) probably benign Het
Nphp3 C T 9: 103,914,547 (GRCm39) H102Y possibly damaging Het
Olr1 T C 6: 129,465,869 (GRCm39) S46G possibly damaging Het
Or2y13 A T 11: 49,414,961 (GRCm39) H137L possibly damaging Het
Or52x1 A T 7: 104,852,866 (GRCm39) M228K probably benign Het
Or5b94 C T 19: 12,652,121 (GRCm39) T184I probably benign Het
Parg C A 14: 31,924,390 (GRCm39) A63E probably damaging Het
Pik3cg A G 12: 32,245,714 (GRCm39) probably benign Het
Ripk4 A G 16: 97,544,761 (GRCm39) C629R probably benign Het
Rnf145 A G 11: 44,454,978 (GRCm39) T620A probably benign Het
Rskr T C 11: 78,182,507 (GRCm39) probably benign Het
Samd9l T G 6: 3,376,031 (GRCm39) D410A possibly damaging Het
Serpinb9f A T 13: 33,511,934 (GRCm39) probably benign Het
Slc19a1 T C 10: 76,877,999 (GRCm39) I178T probably benign Het
Slco1b2 A T 6: 141,616,837 (GRCm39) Y390F probably benign Het
Speg A G 1: 75,361,676 (GRCm39) E230G possibly damaging Het
Tbc1d9 C A 8: 83,991,466 (GRCm39) probably benign Het
Tmem131l G A 3: 83,847,894 (GRCm39) Q324* probably null Het
Trf A G 9: 103,104,155 (GRCm39) probably benign Het
Trp53 T G 11: 69,479,505 (GRCm39) Y202D probably damaging Het
Trpv1 T A 11: 73,144,098 (GRCm39) M618K probably damaging Het
Trrap C A 5: 144,759,571 (GRCm39) Y2250* probably null Het
Ttc3 A G 16: 94,186,181 (GRCm39) probably benign Het
Ubtfl1 T G 9: 18,321,083 (GRCm39) S204A probably benign Het
Uck2 A T 1: 167,055,340 (GRCm39) Y203N probably damaging Het
Utrn A T 10: 12,562,209 (GRCm39) L1280* probably null Het
Vmn1r178 A T 7: 23,593,609 (GRCm39) H146L possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r108 T C 17: 20,691,897 (GRCm39) M209V probably benign Het
Vmn2r9 G A 5: 108,990,991 (GRCm39) T790I probably damaging Het
Vmn2r94 C A 17: 18,463,866 (GRCm39) R808L probably benign Het
Zbtb7c A T 18: 76,269,962 (GRCm39) S17C probably damaging Het
Zfp811 C T 17: 33,016,738 (GRCm39) R434Q probably damaging Het
Zkscan6 A T 11: 65,705,689 (GRCm39) probably benign 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
IGL02002:Dsg2 APN 18 20,712,233 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTCCAGCAAGCTCAAGTTCAGATCC -3'
(R):5'- ATGTCCGTCCCTGTAAAGCACCTG -3'

Sequencing Primer
(F):5'- GCTCAAGTTCAGATCCGTATATTGG -3'
(R):5'- CCCTGTAAAGCACCTGTGAGAG -3'
Posted On 2013-04-11