Incidental Mutation 'R2109:Dsg2'
ID 232423
Institutional Source Beutler Lab
Gene Symbol Dsg2
Ensembl Gene ENSMUSG00000044393
Gene Name desmoglein 2
Synonyms D18Ertd293e
MMRRC Submission 040113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R2109 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20691131-20737578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20725346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 486 (I486V)
Ref Sequence ENSEMBL: ENSMUSP00000057096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059787]
AlphaFold O55111
Predicted Effect probably benign
Transcript: ENSMUST00000059787
AA Change: I486V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: I486V

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik G T 7: 43,900,435 (GRCm39) R113S probably benign Het
Ackr2 A T 9: 121,738,026 (GRCm39) I134F probably damaging Het
Actr3b T A 5: 26,036,709 (GRCm39) I174N possibly damaging Het
Akap9 T A 5: 4,094,847 (GRCm39) S2214T possibly damaging Het
Arhgef12 C A 9: 42,890,768 (GRCm39) R986L possibly damaging Het
Brap G T 5: 121,801,422 (GRCm39) S59I possibly damaging Het
Btnl1 C T 17: 34,598,578 (GRCm39) H65Y probably damaging Het
C1s2 T C 6: 124,612,004 (GRCm39) T121A probably damaging Het
Capn1 T A 19: 6,064,388 (GRCm39) Y37F probably benign Het
Ccdc39 T C 3: 33,869,650 (GRCm39) K726E probably damaging Het
Cd300lb G A 11: 114,816,865 (GRCm39) S195F probably damaging Het
Cenpf T C 1: 189,411,264 (GRCm39) K307E probably damaging Het
Chodl A C 16: 78,738,251 (GRCm39) N73T possibly damaging Het
Cimip2c G A 5: 30,637,851 (GRCm39) G66E probably damaging Het
Crnn A T 3: 93,055,747 (GRCm39) M178L probably benign Het
Cyp4a12b A G 4: 115,290,110 (GRCm39) D221G probably damaging Het
Dipk2a A T 9: 94,406,498 (GRCm39) I303N probably damaging Het
Dmxl2 A G 9: 54,301,097 (GRCm39) V2338A probably benign Het
Dnah9 G T 11: 65,928,411 (GRCm39) P2086Q probably damaging Het
E2f8 A G 7: 48,524,855 (GRCm39) S265P probably damaging Het
Eif1b A G 9: 120,323,296 (GRCm39) D52G probably benign Het
Etl4 A T 2: 20,790,153 (GRCm39) T602S probably benign Het
Exoc3l2 A T 7: 19,223,059 (GRCm39) probably benign Het
Fbxl6 C A 15: 76,421,173 (GRCm39) V297F probably damaging Het
Fgr T A 4: 132,725,786 (GRCm39) N398K probably benign Het
G3bp1 A G 11: 55,379,986 (GRCm39) R107G probably damaging Het
Gp2 A T 7: 119,052,155 (GRCm39) N186K probably benign Het
Hbs1l T A 10: 21,217,831 (GRCm39) L249* probably null Het
Hmgcs2 T A 3: 98,204,337 (GRCm39) L246* probably null Het
Hsp90ab1 G T 17: 45,880,254 (GRCm39) H96Q probably benign Het
Ibtk C T 9: 85,588,603 (GRCm39) V1078I probably benign Het
Ltn1 T C 16: 87,212,530 (GRCm39) D677G probably benign Het
Lyst C T 13: 13,887,405 (GRCm39) T3078I possibly damaging Het
Mamdc4 A G 2: 25,459,402 (GRCm39) F199S probably damaging Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mki67 G A 7: 135,299,592 (GRCm39) T1814I probably damaging Het
Msantd5l T A 11: 51,145,264 (GRCm39) I108F possibly damaging Het
Mttp A T 3: 137,800,763 (GRCm39) F766I probably benign Het
Nbl1 T A 4: 138,810,915 (GRCm39) probably null Het
Nmrk1 T A 19: 18,618,802 (GRCm39) L118Q probably damaging Het
Nopchap1 C T 10: 83,201,656 (GRCm39) S143L probably damaging Het
Oog3 A T 4: 143,886,082 (GRCm39) L172H probably damaging Het
Or2y11 T G 11: 49,443,260 (GRCm39) S229A probably damaging Het
Osbpl1a T G 18: 12,892,457 (GRCm39) Q332P probably damaging Het
Pik3cg A G 12: 32,243,709 (GRCm39) F921L possibly damaging Het
Plch2 T C 4: 155,069,054 (GRCm39) S1086G possibly damaging Het
Plekha5 A G 6: 140,369,942 (GRCm39) T18A possibly damaging Het
Pogz T A 3: 94,786,276 (GRCm39) S955T probably benign Het
Pot1b A T 17: 55,960,413 (GRCm39) I639N probably benign Het
Prkdc T C 16: 15,505,254 (GRCm39) I852T probably benign Het
Prps1l1 A G 12: 35,035,521 (GRCm39) K212R probably benign Het
Ptpn5 A G 7: 46,735,807 (GRCm39) Y304H probably damaging Het
Ralgapa1 A G 12: 55,822,973 (GRCm39) I281T possibly damaging Het
Rgs22 A T 15: 36,099,880 (GRCm39) Y278* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 T A 11: 119,333,489 (GRCm39) Y2899* probably null Het
Rttn C T 18: 89,004,197 (GRCm39) T397I possibly damaging Het
Sacs G T 14: 61,410,902 (GRCm39) probably null Het
Sbf2 G T 7: 110,060,419 (GRCm39) Q182K probably damaging Het
Sec14l5 C T 16: 4,984,968 (GRCm39) R105* probably null Het
Sh2b1 A T 7: 126,071,536 (GRCm39) D216E possibly damaging Het
Sh3gl3 A G 7: 81,920,008 (GRCm39) N72S possibly damaging Het
Slc12a1 A T 2: 125,015,619 (GRCm39) I391F probably damaging Het
Slc36a2 G A 11: 55,072,381 (GRCm39) A77V probably damaging Het
Smc2 A T 4: 52,474,987 (GRCm39) I888L probably benign Het
Smoc1 C T 12: 81,197,450 (GRCm39) T194M probably damaging Het
Sorcs1 C T 19: 50,666,630 (GRCm39) G93R probably benign Het
Sox30 T G 11: 45,882,595 (GRCm39) F542V probably damaging Het
Svep1 A G 4: 58,206,030 (GRCm39) V116A possibly damaging Het
Synj2 A G 17: 6,063,966 (GRCm39) D330G probably benign Het
Tenm3 A C 8: 48,796,384 (GRCm39) S202A possibly damaging Het
Tg C T 15: 66,601,443 (GRCm39) T151I probably benign Het
Tnfaip2 A G 12: 111,414,527 (GRCm39) E361G probably damaging Het
Tnk1 A T 11: 69,746,009 (GRCm39) D305E probably damaging Het
Tpp1 A G 7: 105,399,177 (GRCm39) L133P probably damaging Het
Trappc1 T A 11: 69,215,243 (GRCm39) M41K probably damaging Het
Tsen54 A G 11: 115,706,549 (GRCm39) D9G probably damaging Het
Ttn T A 2: 76,804,598 (GRCm39) I225F probably damaging Het
Ube4b T C 4: 149,457,298 (GRCm39) K313R probably benign Het
Vps50 T C 6: 3,555,379 (GRCm39) V425A probably damaging Het
Wbp2 A T 11: 115,971,445 (GRCm39) Y153* probably null Het
Xrn1 A G 9: 95,861,273 (GRCm39) S478G probably benign Het
Zfp354c T C 11: 50,707,969 (GRCm39) E77G probably benign Het
Zfp462 T C 4: 55,008,496 (GRCm39) M154T probably benign Het
Zfp704 A G 3: 9,539,585 (GRCm39) V255A probably damaging Het
Zfp763 G T 17: 33,238,752 (GRCm39) A131E probably benign Het
Zfp931 A T 2: 177,711,651 (GRCm39) V32E probably null 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
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'- TAAATGGCCTCATCCGTGG -3'
(R):5'- CAGGAGGCTGGTCAATGATG -3'

Sequencing Primer
(F):5'- AAATGGCCTCATCCGTGGTTAAG -3'
(R):5'- CTGGTCAATGATGGAGAAGCTG -3'
Posted On 2014-09-18