Incidental Mutation 'R8094:Dsg2'
ID 630120
Institutional Source Beutler Lab
Gene Symbol Dsg2
Ensembl Gene ENSMUSG00000044393
Gene Name desmoglein 2
Synonyms D18Ertd293e
MMRRC Submission 067526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R8094 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 20691131-20737578 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 20716061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059787] [ENSMUST00000120102] [ENSMUST00000121837]
AlphaFold O55111
Predicted Effect probably damaging
Transcript: ENSMUST00000059787
AA Change: D304G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: D304G

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: D304G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: D304G

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 0.8998 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.0%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik T A 8: 12,329,824 (GRCm39) L93H unknown Het
A2ml1 A G 6: 128,549,045 (GRCm39) Y246H probably damaging Het
Akap11 C A 14: 78,750,413 (GRCm39) C658F Het
Arid2 T G 15: 96,266,592 (GRCm39) S547A possibly damaging Het
Atf1 C A 15: 100,143,170 (GRCm39) D46E probably damaging Het
Brca2 T A 5: 150,459,634 (GRCm39) F303Y possibly damaging Het
Btbd18 T A 2: 84,498,260 (GRCm39) S633T possibly damaging Het
Btg4 T G 9: 51,030,445 (GRCm39) F182V probably benign Het
Cacna1e G A 1: 154,437,516 (GRCm39) S340F probably damaging Het
Camta2 A G 11: 70,576,903 (GRCm39) W41R probably damaging Het
Cbl A T 9: 44,074,696 (GRCm39) D455E probably benign Het
Ccdc162 A T 10: 41,488,864 (GRCm39) D1208E probably benign Het
Cd177 A T 7: 24,443,842 (GRCm39) M752K probably damaging Het
Cep290 A T 10: 100,380,793 (GRCm39) H100L possibly damaging Het
Chrnb2 T A 3: 89,668,698 (GRCm39) I206F probably damaging Het
Cyp2c40 A G 19: 39,791,009 (GRCm39) L274S probably benign Het
Cyp2c40 T A 19: 39,791,015 (GRCm39) Y272F probably benign Het
Cyp2d22 C A 15: 82,258,556 (GRCm39) A102S probably benign Het
Cyp51 C T 5: 4,136,490 (GRCm39) E435K probably benign Het
Dchs2 T C 3: 83,262,929 (GRCm39) F3066L probably benign Het
Disp1 C A 1: 182,869,192 (GRCm39) R1076L probably damaging Het
Dkk2 C T 3: 131,791,801 (GRCm39) A3V probably benign Het
Dnah7b T C 1: 46,165,964 (GRCm39) F543S probably benign Het
Dpt A T 1: 164,624,481 (GRCm39) S61C probably damaging Het
Drg2 A T 11: 60,353,096 (GRCm39) Y243F probably damaging Het
Dst T G 1: 34,228,040 (GRCm39) L1878V possibly damaging Het
F5 A G 1: 164,036,509 (GRCm39) Y1890C probably benign Het
Fat1 T C 8: 45,405,739 (GRCm39) V830A probably damaging Het
Fat2 C T 11: 55,186,965 (GRCm39) D1294N probably benign Het
Fbxo15 A G 18: 84,983,618 (GRCm39) Y322C probably benign Het
Fcsk A G 8: 111,622,604 (GRCm39) F108S probably damaging Het
Fhit A T 14: 10,751,666 (GRCm38) N7K unknown Het
Gabrb2 A G 11: 42,488,370 (GRCm39) I279V probably damaging Het
Galk2 T C 2: 125,773,189 (GRCm39) F207S probably damaging Het
Gtpbp3 C T 8: 71,941,480 (GRCm39) L17F possibly damaging Het
Gucy2c T A 6: 136,714,446 (GRCm39) D460V probably benign Het
Herc1 G A 9: 66,400,462 (GRCm39) V4329I probably damaging Het
Iqcn T C 8: 71,162,067 (GRCm39) V420A probably benign Het
Kirrel3 G A 9: 34,946,460 (GRCm39) V740M probably damaging Het
Macf1 C A 4: 123,263,660 (GRCm39) V6956L probably damaging Het
Mill1 C T 7: 17,989,835 (GRCm39) A39V probably benign Het
Mkln1 T A 6: 31,469,588 (GRCm39) Y599* probably null Het
Mrpl14 T A 17: 46,009,039 (GRCm39) L46Q possibly damaging Het
Myom2 G T 8: 15,119,418 (GRCm39) R103L possibly damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndst2 A T 14: 20,778,232 (GRCm39) V449D probably damaging Het
Nell1 T A 7: 49,770,335 (GRCm39) H131Q probably benign Het
Nos3 G C 5: 24,572,218 (GRCm39) R97P probably benign Het
Npc1 A T 18: 12,327,297 (GRCm39) F1099L probably benign Het
Nxpe5 T A 5: 138,249,802 (GRCm39) W531R probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1j1 A T 2: 36,702,330 (GRCm39) L258H probably damaging Het
Or4c110 T C 2: 88,832,712 (GRCm39) probably benign Het
Or5b98 A T 19: 12,931,366 (GRCm39) T138S probably benign Het
Or6c210 A G 10: 129,495,933 (GRCm39) D86G probably damaging Het
Osmr T C 15: 6,845,102 (GRCm39) N889S possibly damaging Het
Oxct2b A G 4: 123,010,301 (GRCm39) I74V possibly damaging Het
Pakap A G 4: 57,886,319 (GRCm39) T859A possibly damaging Het
Phldb3 C A 7: 24,326,134 (GRCm39) A572D probably damaging Het
Pigr A G 1: 130,774,247 (GRCm39) E409G probably damaging Het
Ptprs T C 17: 56,735,947 (GRCm39) E674G probably benign Het
Ptpru G A 4: 131,520,903 (GRCm39) T801I possibly damaging Het
Ralgapa1 T A 12: 55,829,631 (GRCm39) D200V probably damaging Het
Rb1cc1 A T 1: 6,333,448 (GRCm39) R1429* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnpep A T 1: 135,211,514 (GRCm39) L78Q probably damaging Het
Rtn2 A T 7: 19,027,791 (GRCm39) I394F probably damaging Het
Satb2 A T 1: 56,870,623 (GRCm39) V572D possibly damaging Het
Sds T C 5: 120,617,001 (GRCm39) probably benign Het
Serpina10 TTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCC 12: 103,595,032 (GRCm39) probably benign Het
Sgo2a T C 1: 58,056,300 (GRCm39) I828T possibly damaging Het
Slc25a33 T A 4: 149,840,609 (GRCm39) K79N probably benign Het
Slc25a51 A C 4: 45,399,783 (GRCm39) F136V probably benign Het
Slfn14 T A 11: 83,174,119 (GRCm39) K291* probably null Het
Sp100 A G 1: 85,624,819 (GRCm39) K403E possibly damaging Het
Spaca1 C T 4: 34,049,837 (GRCm39) E54K possibly damaging Het
Sympk T G 7: 18,787,373 (GRCm39) probably null Het
Syne1 A T 10: 5,067,031 (GRCm39) V7078D probably damaging Het
Tas2r121 T A 6: 132,677,772 (GRCm39) I67L probably benign Het
Tha1 T C 11: 117,759,323 (GRCm39) K389E probably benign Het
Thbs2 T A 17: 14,900,584 (GRCm39) Q541L probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem94 T C 11: 115,679,218 (GRCm39) probably null Het
Tnfsf13 A G 11: 69,575,983 (GRCm39) C35R probably damaging Het
Trcg1 C A 9: 57,149,564 (GRCm39) Q379K probably benign Het
Ubr4 T C 4: 139,168,007 (GRCm39) S1507P probably damaging Het
Uckl1 A G 2: 181,215,049 (GRCm39) I268T probably damaging Het
Uvrag T C 7: 98,641,174 (GRCm39) K289E possibly damaging Het
Vmn2r104 C A 17: 20,250,483 (GRCm39) C596F possibly damaging Het
Vmn2r11 A T 5: 109,201,626 (GRCm39) F293I probably damaging Het
Vps13b T A 15: 35,669,052 (GRCm39) probably null Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zscan4f T A 7: 11,135,154 (GRCm39) C187S 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
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'- CAGCAAGCTCAAGTTCAGATC -3'
(R):5'- AGCACCTGTGAGAGTATGGG -3'

Sequencing Primer
(F):5'- GCTCAAGTTCAGATCCGTATATTGG -3'
(R):5'- GGGACTCAAAGCATGTTAGTCTTTCC -3'
Posted On 2020-06-30