Incidental Mutation 'R8308:Dsg2'
ID 641221
Institutional Source Beutler Lab
Gene Symbol Dsg2
Ensembl Gene ENSMUSG00000044393
Gene Name desmoglein 2
Synonyms D18Ertd293e
MMRRC Submission 067793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R8308 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 20691131-20737578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20708121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 74 (P74L)
Ref Sequence ENSEMBL: ENSMUSP00000057096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102] [ENSMUST00000121837]
AlphaFold O55111
Predicted Effect probably benign
Transcript: ENSMUST00000059787
AA Change: P74L

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: P74L

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: P74L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: P74L

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: P74L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: P74L

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 0.5449 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,659,570 (GRCm39) D341G probably damaging Het
Abca17 T C 17: 24,486,657 (GRCm39) T1457A probably damaging Het
Acot8 A T 2: 164,646,663 (GRCm39) S25R probably benign Het
Ap2a2 T C 7: 141,210,212 (GRCm39) V850A probably benign Het
Baiap2l1 T A 5: 144,214,487 (GRCm39) E402D probably benign Het
Bptf T C 11: 106,943,815 (GRCm39) K2689E probably damaging Het
Cdh22 C A 2: 164,954,098 (GRCm39) D808Y probably damaging Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Cipc A G 12: 87,008,809 (GRCm39) T223A probably benign Het
Crem G T 18: 3,295,397 (GRCm39) T57K possibly damaging Het
Cyp17a1 T A 19: 46,656,516 (GRCm39) I393F probably benign Het
Dgcr2 C T 16: 17,676,242 (GRCm39) G176D probably benign Het
Dock3 C A 9: 106,790,371 (GRCm39) V1451L probably benign Het
Ece1 T C 4: 137,664,075 (GRCm39) V224A probably damaging Het
Flg A T 3: 93,190,586 (GRCm39) S152C unknown Het
Gcsam A T 16: 45,430,902 (GRCm39) N3I probably damaging Het
Gm10188 C T 1: 132,157,310 (GRCm39) V19I unknown Het
Gpr27 T C 6: 99,670,217 (GRCm39) L193P probably damaging Het
Grin2b A T 6: 135,900,074 (GRCm39) V269E probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Kif14 A G 1: 136,443,651 (GRCm39) I1275V possibly damaging Het
Krt27 T C 11: 99,239,862 (GRCm39) E234G probably benign Het
Lmo7 T C 14: 102,139,807 (GRCm39) probably null Het
Matk T G 10: 81,094,121 (GRCm39) S18A probably benign Het
Mbd3l1 A G 9: 18,395,886 (GRCm39) T4A probably benign Het
Mettl23 G A 11: 116,739,185 (GRCm39) probably null Het
Ncam1 A T 9: 49,479,817 (GRCm39) W54R probably damaging Het
Olfm5 A G 7: 103,803,606 (GRCm39) Y286H probably damaging Het
Or10d5j T A 9: 39,868,265 (GRCm39) M1L probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or4q3 T C 14: 50,582,922 (GRCm39) I326V probably benign Het
Or5ac15 C T 16: 58,939,899 (GRCm39) C178Y probably damaging Het
Pmch A G 10: 87,927,614 (GRCm39) Y105C probably damaging Het
Prg3 A G 2: 84,819,676 (GRCm39) T57A probably benign Het
Ptpn13 A G 5: 103,688,838 (GRCm39) E877G probably damaging Het
Ptprt A G 2: 161,769,566 (GRCm39) V433A probably benign Het
Rufy1 A T 11: 50,297,233 (GRCm39) D406E probably benign Het
Scara5 C T 14: 65,927,234 (GRCm39) R44W probably damaging Het
Scg2 T G 1: 79,414,576 (GRCm39) K49T probably benign Het
Slc40a1 A G 1: 45,950,180 (GRCm39) I424T probably benign Het
Slc4a8 T A 15: 100,693,735 (GRCm39) S479T probably damaging Het
Sorl1 T C 9: 41,929,456 (GRCm39) D1139G probably damaging Het
Srcap A G 7: 127,152,353 (GRCm39) I2206V possibly damaging Het
Tpk1 T C 6: 43,642,711 (GRCm39) E9G probably benign Het
Ttn C T 2: 76,642,645 (GRCm39) V13297I possibly damaging Het
Uchl3 T C 14: 101,932,655 (GRCm39) probably null Het
Usp12 T C 5: 146,688,751 (GRCm39) D201G probably damaging Het
Vmn1r193 C T 13: 22,403,146 (GRCm39) R282H probably benign Het
Vmn2r104 T C 17: 20,261,040 (GRCm39) D461G possibly damaging Het
Zfp131 A G 13: 120,244,440 (GRCm39) M80T possibly damaging Het
Zfp457 A G 13: 67,441,663 (GRCm39) L304P probably benign Het
Zswim3 A G 2: 164,663,566 (GRCm39) E682G 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
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
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
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'- ACAGAATGTCTCCCCAAAGCTTTG -3'
(R):5'- TTGTAGCTGAGCCAACTCC -3'

Sequencing Primer
(F):5'- AGCTTTGGGTATGTGATAACTCAAG -3'
(R):5'- TTGTAGCTGAGCCAACTCCTAAAATC -3'
Posted On 2020-07-28