Incidental Mutation 'R4616:Dsg3'
ID 351072
Institutional Source Beutler Lab
Gene Symbol Dsg3
Ensembl Gene ENSMUSG00000056632
Gene Name desmoglein 3
Synonyms
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.427) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 20643331-20674367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20664616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 538 (V538A)
Ref Sequence ENSEMBL: ENSMUSP00000064718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070892]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070892
AA Change: V538A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: V538A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 70 155 3.9e-13 SMART
CA 179 265 2.36e-21 SMART
CA 288 382 1.55e-7 SMART
CA 409 493 6.15e-11 SMART
low complexity region 615 638 N/A INTRINSIC
low complexity region 643 657 N/A INTRINSIC
low complexity region 725 736 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
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 exhibit loss of keratinocyte cell adhesion resulting in a phenotype that resembles that of patients with pemphigus vulgaris. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly damaging Het
Other mutations in Dsg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Dsg3 APN 18 20,672,711 (GRCm39) missense probably damaging 1.00
IGL00697:Dsg3 APN 18 20,657,746 (GRCm39) critical splice donor site probably null
IGL00966:Dsg3 APN 18 20,656,664 (GRCm39) missense probably benign 0.02
IGL01352:Dsg3 APN 18 20,656,753 (GRCm39) missense probably benign 0.25
IGL01953:Dsg3 APN 18 20,658,361 (GRCm39) missense probably damaging 1.00
IGL02385:Dsg3 APN 18 20,660,771 (GRCm39) missense probably damaging 1.00
IGL02622:Dsg3 APN 18 20,662,004 (GRCm39) splice site probably benign
IGL02643:Dsg3 APN 18 20,662,012 (GRCm39) missense probably benign 0.00
IGL02740:Dsg3 APN 18 20,660,765 (GRCm39) missense possibly damaging 0.93
IGL03012:Dsg3 APN 18 20,670,300 (GRCm39) critical splice acceptor site probably null
IGL03026:Dsg3 APN 18 20,670,029 (GRCm39) splice site probably null
IGL03063:Dsg3 APN 18 20,666,425 (GRCm39) splice site probably benign
IGL03098:Dsg3 APN 18 20,643,422 (GRCm39) utr 5 prime probably benign
IGL03132:Dsg3 APN 18 20,657,653 (GRCm39) missense probably damaging 1.00
IGL03352:Dsg3 APN 18 20,660,689 (GRCm39) missense probably benign
P0035:Dsg3 UTSW 18 20,673,026 (GRCm39) missense probably benign 0.05
R0039:Dsg3 UTSW 18 20,654,541 (GRCm39) missense probably benign 0.36
R0099:Dsg3 UTSW 18 20,673,079 (GRCm39) missense probably benign 0.01
R0109:Dsg3 UTSW 18 20,673,191 (GRCm39) missense probably damaging 0.96
R0109:Dsg3 UTSW 18 20,673,191 (GRCm39) missense probably damaging 0.96
R0143:Dsg3 UTSW 18 20,669,882 (GRCm39) missense probably damaging 1.00
R0194:Dsg3 UTSW 18 20,673,199 (GRCm39) missense probably damaging 1.00
R0373:Dsg3 UTSW 18 20,672,804 (GRCm39) missense probably damaging 1.00
R0517:Dsg3 UTSW 18 20,662,082 (GRCm39) missense probably benign 0.06
R0521:Dsg3 UTSW 18 20,660,872 (GRCm39) missense possibly damaging 0.53
R1194:Dsg3 UTSW 18 20,658,277 (GRCm39) missense probably damaging 0.98
R1551:Dsg3 UTSW 18 20,669,975 (GRCm39) missense possibly damaging 0.84
R1762:Dsg3 UTSW 18 20,672,789 (GRCm39) missense probably damaging 1.00
R1957:Dsg3 UTSW 18 20,655,162 (GRCm39) missense probably damaging 1.00
R2061:Dsg3 UTSW 18 20,660,794 (GRCm39) nonsense probably null
R2071:Dsg3 UTSW 18 20,669,882 (GRCm39) missense probably damaging 1.00
R2513:Dsg3 UTSW 18 20,656,719 (GRCm39) missense possibly damaging 0.48
R2571:Dsg3 UTSW 18 20,673,062 (GRCm39) missense probably benign 0.01
R2945:Dsg3 UTSW 18 20,672,992 (GRCm39) missense probably benign
R2968:Dsg3 UTSW 18 20,658,282 (GRCm39) missense possibly damaging 0.75
R3906:Dsg3 UTSW 18 20,671,556 (GRCm39) missense probably damaging 1.00
R4641:Dsg3 UTSW 18 20,653,615 (GRCm39) missense probably benign 0.28
R4685:Dsg3 UTSW 18 20,672,793 (GRCm39) missense probably benign 0.08
R5690:Dsg3 UTSW 18 20,655,108 (GRCm39) missense probably benign 0.01
R5786:Dsg3 UTSW 18 20,654,628 (GRCm39) missense possibly damaging 0.46
R5950:Dsg3 UTSW 18 20,671,586 (GRCm39) missense probably damaging 1.00
R6131:Dsg3 UTSW 18 20,653,534 (GRCm39) splice site probably null
R6131:Dsg3 UTSW 18 20,671,569 (GRCm39) missense probably damaging 0.99
R6243:Dsg3 UTSW 18 20,672,781 (GRCm39) missense probably damaging 1.00
R6315:Dsg3 UTSW 18 20,657,643 (GRCm39) missense probably benign 0.08
R6327:Dsg3 UTSW 18 20,672,927 (GRCm39) missense probably benign
R6418:Dsg3 UTSW 18 20,656,817 (GRCm39) critical splice donor site probably null
R6464:Dsg3 UTSW 18 20,666,583 (GRCm39) missense probably benign 0.00
R6497:Dsg3 UTSW 18 20,670,305 (GRCm39) missense probably benign 0.33
R6518:Dsg3 UTSW 18 20,666,479 (GRCm39) missense probably benign 0.23
R6551:Dsg3 UTSW 18 20,672,968 (GRCm39) missense unknown
R6685:Dsg3 UTSW 18 20,653,672 (GRCm39) critical splice donor site probably null
R6952:Dsg3 UTSW 18 20,658,216 (GRCm39) missense possibly damaging 0.77
R7357:Dsg3 UTSW 18 20,672,840 (GRCm39) missense probably damaging 1.00
R7385:Dsg3 UTSW 18 20,673,254 (GRCm39) missense possibly damaging 0.52
R7456:Dsg3 UTSW 18 20,664,420 (GRCm39) missense probably benign 0.17
R7506:Dsg3 UTSW 18 20,666,521 (GRCm39) missense probably benign 0.31
R7570:Dsg3 UTSW 18 20,660,837 (GRCm39) missense possibly damaging 0.95
R7980:Dsg3 UTSW 18 20,664,417 (GRCm39) missense probably benign 0.00
R8100:Dsg3 UTSW 18 20,662,028 (GRCm39) missense probably benign 0.08
R8147:Dsg3 UTSW 18 20,673,130 (GRCm39) missense probably benign
R8242:Dsg3 UTSW 18 20,669,980 (GRCm39) missense possibly damaging 0.93
R8415:Dsg3 UTSW 18 20,656,765 (GRCm39) missense probably damaging 1.00
R8494:Dsg3 UTSW 18 20,673,271 (GRCm39) missense probably benign 0.03
R8930:Dsg3 UTSW 18 20,672,718 (GRCm39) missense probably damaging 1.00
R8932:Dsg3 UTSW 18 20,672,718 (GRCm39) missense probably damaging 1.00
R8998:Dsg3 UTSW 18 20,666,684 (GRCm39) missense probably damaging 1.00
R8999:Dsg3 UTSW 18 20,666,684 (GRCm39) missense probably damaging 1.00
R9336:Dsg3 UTSW 18 20,657,742 (GRCm39) missense probably benign 0.19
R9498:Dsg3 UTSW 18 20,658,278 (GRCm39) missense probably damaging 0.98
R9598:Dsg3 UTSW 18 20,672,789 (GRCm39) missense probably damaging 1.00
R9601:Dsg3 UTSW 18 20,666,578 (GRCm39) missense probably damaging 1.00
R9748:Dsg3 UTSW 18 20,672,761 (GRCm39) missense possibly damaging 0.87
R9794:Dsg3 UTSW 18 20,673,154 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAATATATGTGGAAGTGCCCAG -3'
(R):5'- CCTCAGCTCGACAGTGATAC -3'

Sequencing Primer
(F):5'- ATATGTGGAAGTGCCCAGTTTTAATG -3'
(R):5'- CCCATAAGACAGCAAATAGTGTTAG -3'
Posted On 2015-10-08