Incidental Mutation 'R4940:Dsg2'
ID 383048
Institutional Source Beutler Lab
Gene Symbol Dsg2
Ensembl Gene ENSMUSG00000044393
Gene Name desmoglein 2
Synonyms D18Ertd293e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R4940 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20691131-20737578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20712487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 164 (F164I)
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: F164I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057096
Gene: ENSMUSG00000044393
AA Change: F164I

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: F164I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113153
Gene: ENSMUSG00000044393
AA Change: F164I

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: F164I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113029
Gene: ENSMUSG00000044393
AA Change: F164I

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,828,782 (GRCm39) T240A probably benign Het
Abca15 T C 7: 119,931,917 (GRCm39) Y57H probably benign Het
Adgrf4 A G 17: 42,977,420 (GRCm39) I641T possibly damaging Het
Ankrd11 A G 8: 123,616,560 (GRCm39) Y2410H probably damaging Het
Apbb2 C A 5: 66,609,604 (GRCm39) L14F probably null Het
Arhgdia T C 11: 120,470,061 (GRCm39) D204G probably damaging Het
Armh4 A T 14: 50,010,939 (GRCm39) M256K probably benign Het
Catsperd A T 17: 56,969,736 (GRCm39) Y610F possibly damaging Het
Cblb T A 16: 51,853,466 (GRCm39) D27E probably damaging Het
Ccdc180 A T 4: 45,917,453 (GRCm39) I893F probably damaging Het
Ccdc180 A G 4: 45,917,508 (GRCm39) H911R probably damaging Het
Cdh23 T A 10: 60,143,714 (GRCm39) I2966F probably damaging Het
Cfap299 A G 5: 98,885,495 (GRCm39) H134R possibly damaging Het
Chat G A 14: 32,141,062 (GRCm39) P445L probably damaging Het
Chdh G T 14: 29,754,809 (GRCm39) R273L possibly damaging Het
Clic3 T C 2: 25,347,929 (GRCm39) V72A probably benign Het
Cyp2d12 T A 15: 82,442,251 (GRCm39) D244E probably benign Het
Ddr1 T A 17: 36,001,022 (GRCm39) D241V probably damaging Het
Dock7 T A 4: 98,908,314 (GRCm39) K605N probably damaging Het
Dstyk T A 1: 132,380,844 (GRCm39) N446K probably damaging Het
Epb42 A T 2: 120,864,932 (GRCm39) L53Q probably damaging Het
Extl2 G C 3: 115,820,841 (GRCm39) K229N probably benign Het
Frmd4b T A 6: 97,275,051 (GRCm39) S617C probably damaging Het
Fscb C T 12: 64,520,588 (GRCm39) V293I probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gm4978 A C 9: 69,358,154 (GRCm39) probably benign Het
Gm6729 A G 10: 86,376,252 (GRCm39) noncoding transcript Het
Gnat2 A C 3: 108,007,932 (GRCm39) N293T probably benign Het
Herpud1 T C 8: 95,117,470 (GRCm39) I142T probably benign Het
Irak2 G A 6: 113,670,691 (GRCm39) V536I probably benign Het
Kcnu1 A T 8: 26,387,890 (GRCm39) probably null Het
Kdm4a A G 4: 118,018,951 (GRCm39) S422P probably benign Het
Lair1 T A 7: 4,031,948 (GRCm39) D53V probably benign Het
Lhx1 G T 11: 84,410,735 (GRCm39) Y196* probably null Het
Lrrc37a G A 11: 103,388,438 (GRCm39) T2329I unknown Het
Mag T C 7: 30,608,625 (GRCm39) D163G probably damaging Het
Magi3 A G 3: 103,958,708 (GRCm39) V459A probably damaging Het
Med13 A G 11: 86,178,944 (GRCm39) Y1451H probably damaging Het
Megf8 T A 7: 25,060,131 (GRCm39) C2341S probably damaging Het
Mppe1 A G 18: 67,361,095 (GRCm39) C221R probably damaging Het
Mtus1 T A 8: 41,494,515 (GRCm39) H39L possibly damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nutm2 T C 13: 50,628,909 (GRCm39) C658R possibly damaging Het
Olfm1 T C 2: 28,112,602 (GRCm39) V239A possibly damaging Het
Pcnx1 C T 12: 81,964,567 (GRCm39) H245Y possibly damaging Het
Pgm3 A G 9: 86,441,529 (GRCm39) L356S probably damaging Het
Pik3r4 C G 9: 105,546,193 (GRCm39) H207D probably benign Het
Pkd1l1 T C 11: 8,794,585 (GRCm39) T1859A probably benign Het
Pon3 A T 6: 5,221,625 (GRCm39) V335E possibly damaging Het
Ppp4r3b A G 11: 29,161,740 (GRCm39) T705A probably benign Het
Prmt7 T C 8: 106,963,910 (GRCm39) V268A probably benign Het
Psd C T 19: 46,310,856 (GRCm39) G398R probably damaging Het
Pygl A G 12: 70,253,155 (GRCm39) V188A probably damaging Het
Rnf13 T A 3: 57,703,627 (GRCm39) N110K probably damaging Het
Rnf170 C T 8: 26,615,939 (GRCm39) Q77* probably null Het
Rrp8 A T 7: 105,383,284 (GRCm39) Y327* probably null Het
Ruvbl2 T C 7: 45,074,150 (GRCm39) D228G probably damaging Het
Scgn T A 13: 24,173,807 (GRCm39) T35S probably benign Het
Scyl3 C T 1: 163,762,316 (GRCm39) P74S probably damaging Het
Sec61b T G 4: 47,483,074 (GRCm39) S123A probably benign Het
Sertad2 T C 11: 20,597,899 (GRCm39) S32P possibly damaging Het
Slc23a3 T C 1: 75,110,447 (GRCm39) probably null Het
Sult2a2 T G 7: 13,472,223 (GRCm39) V140G probably benign Het
Tbc1d4 A T 14: 101,744,667 (GRCm39) S320T probably benign Het
Trabd2b T C 4: 114,266,141 (GRCm39) Y52H probably damaging Het
Traf2 T C 2: 25,420,300 (GRCm39) E183G probably null Het
Trip10 G T 17: 57,570,017 (GRCm39) V561F possibly damaging Het
Ttc7 G T 17: 87,614,386 (GRCm39) V184F probably benign Het
Ubc A G 5: 125,463,293 (GRCm39) V678A probably benign Het
Unk A G 11: 115,944,491 (GRCm39) E414G possibly damaging Het
Usp42 T C 5: 143,705,517 (GRCm39) N365D probably damaging Het
Zbtb26 A T 2: 37,326,781 (GRCm39) I85K probably damaging Het
Zfhx2 A T 14: 55,303,891 (GRCm39) H1364Q 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
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'- CCCTGGTGAAATCATGATTTGG -3'
(R):5'- ACTTCTGGTGAGTAATATCCAGC -3'

Sequencing Primer
(F):5'- CTGGTGAAATCATGATTTGGTTTATG -3'
(R):5'- TCCACAGATCAGGTGATGGCTTAC -3'
Posted On 2016-04-27