Incidental Mutation 'R6226:Dsg2'
ID 504373
Institutional Source Beutler Lab
Gene Symbol Dsg2
Ensembl Gene ENSMUSG00000044393
Gene Name desmoglein 2
Synonyms D18Ertd293e
MMRRC Submission 044397-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R6226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 20691131-20737578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20712506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 170 (V170D)
Ref Sequence ENSEMBL: ENSMUSP00000113029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102] [ENSMUST00000121837]
AlphaFold O55111
Predicted Effect possibly damaging
Transcript: ENSMUST00000059787
AA Change: V170D

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: V170D

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: V170D

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: V170D

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: V170D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: V170D

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,293,853 (GRCm39) T62A probably benign Het
Adam33 G A 2: 130,897,530 (GRCm39) T265I probably damaging Het
Afap1l2 T C 19: 56,904,560 (GRCm39) T654A probably benign Het
Agrn A G 4: 156,258,066 (GRCm39) S992P probably damaging Het
Anapc1 A G 2: 128,492,292 (GRCm39) F939L probably damaging Het
Anks1 G A 17: 28,276,304 (GRCm39) V1016I probably benign Het
Ankzf1 A G 1: 75,173,238 (GRCm39) T401A probably benign Het
Atad1 G T 19: 32,678,987 (GRCm39) D105E probably benign Het
Carmil2 A G 8: 106,415,664 (GRCm39) T313A possibly damaging Het
Cdk15 T C 1: 59,304,792 (GRCm39) V131A probably damaging Het
Cldnd1 A T 16: 58,551,663 (GRCm39) probably null Het
Col16a1 A T 4: 129,948,882 (GRCm39) probably benign Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Dnah7b A C 1: 46,165,828 (GRCm39) K498Q probably benign Het
Dnase2b A G 3: 146,290,318 (GRCm39) Y218H probably benign Het
Dst T C 1: 34,309,955 (GRCm39) V1543A probably damaging Het
Ell3 A T 2: 121,272,258 (GRCm39) I72K probably damaging Het
Fank1 A G 7: 133,463,927 (GRCm39) Y41C probably benign Het
Foxd3 T C 4: 99,545,261 (GRCm39) Y134H probably damaging Het
Frmd6 A G 12: 70,910,685 (GRCm39) probably benign Het
Gale A G 4: 135,692,916 (GRCm39) E53G possibly damaging Het
Glis3 A G 19: 28,294,702 (GRCm39) S699P probably damaging Het
Gm12830 T A 4: 114,702,246 (GRCm39) M136K unknown Het
Grik3 T C 4: 125,553,582 (GRCm39) V438A probably benign Het
Gsap A G 5: 21,422,429 (GRCm39) N133D probably damaging Het
Gsg1 T A 6: 135,217,110 (GRCm39) D239V probably damaging Het
H2-T10 A T 17: 36,431,975 (GRCm39) W23R probably damaging Het
Itgae A G 11: 73,031,583 (GRCm39) T1100A probably benign Het
Kcnh7 A T 2: 62,607,903 (GRCm39) F559L probably damaging Het
Kdm5b G T 1: 134,536,616 (GRCm39) R612L probably damaging Het
Lrrc74a T A 12: 86,795,231 (GRCm39) N253K possibly damaging Het
Mcm3ap A G 10: 76,351,540 (GRCm39) H1961R possibly damaging Het
Ncam1 C T 9: 49,476,304 (GRCm39) E262K probably benign Het
Nckap1 A G 2: 80,339,125 (GRCm39) S968P possibly damaging Het
Nkapd1 T C 9: 50,519,070 (GRCm39) T181A possibly damaging Het
Nr2f2 T G 7: 70,009,744 (GRCm39) S112R probably benign Het
Nup93 T C 8: 95,013,165 (GRCm39) W137R probably damaging Het
Or10ag53 A G 2: 87,082,736 (GRCm39) S152G probably benign Het
Or2t26 A G 11: 49,039,660 (GRCm39) D192G possibly damaging Het
Or4a78 A T 2: 89,497,333 (GRCm39) L299H probably damaging Het
Or52n1 A T 7: 104,383,243 (GRCm39) F109L probably damaging Het
Or8b12 T A 9: 37,657,433 (GRCm39) M1K probably null Het
Or8b55 T C 9: 38,727,666 (GRCm39) I289T probably damaging Het
Otogl A T 10: 107,607,067 (GRCm39) Y2105* probably null Het
Pibf1 A G 14: 99,338,555 (GRCm39) S24G probably damaging Het
Pitx2 C T 3: 129,009,491 (GRCm39) R130W probably damaging Het
Pkd1l1 T C 11: 8,851,287 (GRCm39) N715S probably benign Het
Pou6f2 A T 13: 18,303,739 (GRCm39) I123N possibly damaging Het
Prss29 T A 17: 25,539,513 (GRCm39) H35Q possibly damaging Het
Ptpn21 A G 12: 98,646,375 (GRCm39) F1028L probably benign Het
Ptpn21 A T 12: 98,681,431 (GRCm39) Y68N probably damaging Het
Ptprk A G 10: 28,440,099 (GRCm39) T856A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpl22l1 A G 3: 28,860,676 (GRCm39) T13A possibly damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sec14l5 G A 16: 4,994,429 (GRCm39) V408I probably damaging Het
Serpina5 T C 12: 104,068,037 (GRCm39) S33P possibly damaging Het
Sgip1 A G 4: 102,823,392 (GRCm39) N524S probably damaging Het
Shkbp1 C A 7: 27,051,405 (GRCm39) R218M probably null Het
Sorcs1 T A 19: 50,169,852 (GRCm39) I970F probably damaging Het
Spg11 A G 2: 121,918,743 (GRCm39) V962A possibly damaging Het
Sptbn1 A G 11: 30,086,054 (GRCm39) M1205T probably damaging Het
Sufu G A 19: 46,462,093 (GRCm39) V369M probably damaging Het
Tmem98 T C 11: 80,712,220 (GRCm39) F219S probably benign Het
Trim27 T C 13: 21,365,086 (GRCm39) probably benign Het
Trim43b T C 9: 88,973,328 (GRCm39) E135G possibly damaging Het
Ube2m A G 7: 12,769,815 (GRCm39) V110A probably damaging Het
Ugt2b36 A G 5: 87,239,989 (GRCm39) V132A probably damaging Het
Usp36 A T 11: 118,168,100 (GRCm39) S86T probably damaging Het
Zfp941 A T 7: 140,392,398 (GRCm39) D320E 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
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
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'- AGTTCTTCCCTGGTGAAATCATG -3'
(R):5'- ACTTCTGGTGAGTAATATCCAGC -3'

Sequencing Primer
(F):5'- CTTCCCTGGTGAAATCATGATTTG -3'
(R):5'- TCCACAGATCAGGTGATGGCTTAC -3'
Posted On 2018-02-28