Incidental Mutation 'R9328:Dsg2'
ID 706689
Institutional Source Beutler Lab
Gene Symbol Dsg2
Ensembl Gene ENSMUSG00000044393
Gene Name desmoglein 2
Synonyms D18Ertd293e
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R9328 (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 C at 20715847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 263 (V263A)
Ref Sequence ENSEMBL: ENSMUSP00000057096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102] [ENSMUST00000121837]
AlphaFold O55111
Predicted Effect possibly damaging
Transcript: ENSMUST00000059787
AA Change: V263A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: V263A

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: V263A

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: V263A

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: V263A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: V263A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik A G 7: 37,894,272 (GRCm39) T102A probably benign Het
1700109H08Rik A G 5: 3,632,161 (GRCm39) K164E possibly damaging Het
2610042L04Rik C T 14: 4,350,013 (GRCm38) Q74* probably null Het
Aadacl4fm4 T A 4: 144,401,256 (GRCm39) H76L probably benign Het
Adgrb2 T A 4: 129,915,363 (GRCm39) M1381K probably damaging Het
Adgrv1 C A 13: 81,620,523 (GRCm39) D3975Y probably damaging Het
Ano10 C T 9: 122,090,168 (GRCm39) E382K possibly damaging Het
Ascc3 T C 10: 50,535,015 (GRCm39) V636A probably damaging Het
AU040320 T C 4: 126,729,332 (GRCm39) V498A possibly damaging Het
Bahcc1 C T 11: 120,165,885 (GRCm39) T1047I possibly damaging Het
BC004004 A T 17: 29,501,682 (GRCm39) T74S possibly damaging Het
Bend3 A G 10: 43,387,419 (GRCm39) D604G possibly damaging Het
Brinp3 T A 1: 146,707,455 (GRCm39) V373E probably damaging Het
Bsph2 A T 7: 13,290,764 (GRCm39) D38E probably benign Het
Castor1 T C 11: 4,170,423 (GRCm39) F140L probably benign Het
Catsperd A G 17: 56,965,074 (GRCm39) I474V possibly damaging Het
Ccdc180 A G 4: 45,902,447 (GRCm39) N292S possibly damaging Het
Cd1d1 A T 3: 86,905,459 (GRCm39) V178E possibly damaging Het
Cdca2 T A 14: 67,931,131 (GRCm39) R521W probably damaging Het
Champ1 A G 8: 13,929,392 (GRCm39) K517E probably damaging Het
Chrna9 T C 5: 66,128,569 (GRCm39) F259S probably damaging Het
Chuk A T 19: 44,085,422 (GRCm39) C241* probably null Het
Clns1a A G 7: 97,363,240 (GRCm39) Y204C probably benign Het
Cplane1 A G 15: 8,215,692 (GRCm39) D416G probably damaging Het
Cyp2j7 A T 4: 96,115,869 (GRCm39) N192K probably damaging Het
Ddr2 A G 1: 169,829,504 (GRCm39) V250A probably benign Het
Dlgap2 A G 8: 14,777,441 (GRCm39) S229G probably damaging Het
Dmrt1 A T 19: 25,523,231 (GRCm39) H194L probably damaging Het
Dock7 A T 4: 98,968,064 (GRCm39) F138I Het
Dusp16 A G 6: 134,716,902 (GRCm39) L135P probably damaging Het
Dysf A G 6: 84,050,895 (GRCm39) N414S probably damaging Het
Efhc1 A G 1: 21,030,598 (GRCm39) Y177C probably damaging Het
Fam83e A T 7: 45,372,912 (GRCm39) R174S probably benign Het
Fgf4 C T 7: 144,416,664 (GRCm39) L199F probably damaging Het
Fignl2 A G 15: 100,951,271 (GRCm39) L337P unknown Het
Gm4353 T C 7: 115,682,724 (GRCm39) R286G probably damaging Het
Gm5142 T C 14: 59,416,126 (GRCm39) S11G probably benign Het
Gpr151 A G 18: 42,712,270 (GRCm39) V136A probably damaging Het
Ift80 T A 3: 68,847,483 (GRCm39) I338F probably damaging Het
Itgb4 A G 11: 115,880,625 (GRCm39) S693G probably benign Het
Kif13a T A 13: 46,951,838 (GRCm39) I812F probably damaging Het
Krit1 T C 5: 3,862,577 (GRCm39) probably null Het
Mapk6 T C 9: 75,305,252 (GRCm39) D55G possibly damaging Het
Matn3 A G 12: 9,002,033 (GRCm39) I82V possibly damaging Het
Mecom T A 3: 30,063,994 (GRCm39) D32V unknown Het
Nacad T C 11: 6,552,417 (GRCm39) H258R possibly damaging Het
Ndufaf5 T A 2: 140,030,752 (GRCm39) S213T possibly damaging Het
Nphp1 C T 2: 127,582,892 (GRCm39) D674N possibly damaging Het
Nsmaf A G 4: 6,426,412 (GRCm39) L250P probably damaging Het
Ogdh T C 11: 6,297,838 (GRCm39) S571P probably benign Het
Or1e31 T C 11: 73,690,478 (GRCm39) Y35C probably damaging Het
Or51i2 T A 7: 103,689,268 (GRCm39) D88E Het
Or8g27 T C 9: 39,129,175 (GRCm39) I174T probably damaging Het
Osbpl11 A G 16: 33,047,245 (GRCm39) I403V probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pira13 T A 7: 3,827,580 (GRCm39) R192S unknown Het
Plat A G 8: 23,268,133 (GRCm39) R300G probably damaging Het
Ppid T C 3: 79,505,059 (GRCm39) I134T probably damaging Het
Rad51ap2 A G 12: 11,507,772 (GRCm39) I565V probably benign Het
Rasa1 T C 13: 85,403,575 (GRCm39) probably null Het
Sema4a C T 3: 88,345,613 (GRCm39) W490* probably null Het
Septin3 A G 15: 82,173,439 (GRCm39) Y257C probably damaging Het
Sh3rf2 C A 18: 42,274,161 (GRCm39) F442L probably benign Het
Sipa1l1 A G 12: 82,388,792 (GRCm39) I339M possibly damaging Het
Six2 T C 17: 85,995,196 (GRCm39) N62S possibly damaging Het
Slc44a5 T C 3: 153,964,678 (GRCm39) I526T probably benign Het
Smarca5 T C 8: 81,447,378 (GRCm39) S402G probably benign Het
Son T A 16: 91,452,645 (GRCm39) V464E possibly damaging Het
Sorcs3 A G 19: 48,785,950 (GRCm39) K1144E probably damaging Het
Stxbp6 A G 12: 44,902,659 (GRCm39) L204P probably damaging Het
Tchh A G 3: 93,351,570 (GRCm39) R337G unknown Het
Tgm4 T C 9: 122,885,697 (GRCm39) V413A possibly damaging Het
Tmem131 G A 1: 36,858,236 (GRCm39) Q704* probably null Het
Tmpo T C 10: 90,998,825 (GRCm39) K321E probably damaging Het
Trim75 G T 8: 65,435,315 (GRCm39) N378K probably benign Het
Tspan18 T A 2: 93,036,065 (GRCm39) I227F probably benign Het
Ttn C T 2: 76,541,526 (GRCm39) W33820* probably null Het
Urb2 T A 8: 124,774,034 (GRCm39) Y1522N probably damaging Het
Zbtb40 T C 4: 136,745,620 (GRCm39) N138D probably benign Het
Zfp715 A T 7: 42,947,328 (GRCm39) H877Q possibly 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
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
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'- GACTGCAGTCCATTTCCTAAAC -3'
(R):5'- GGTCACTTTGATCCGCATGAC -3'

Sequencing Primer
(F):5'- GTCCATTTCCTAAACATAAGGTGACC -3'
(R):5'- GCATGACTTCTACATTGACCTGG -3'
Posted On 2022-04-18