Incidental Mutation 'R8147:Dsg3'
ID 632886
Institutional Source Beutler Lab
Gene Symbol Dsg3
Ensembl Gene ENSMUSG00000056632
Gene Name desmoglein 3
Synonyms
MMRRC Submission 067575-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.427) question?
Stock # R8147 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 20643331-20674367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20673130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 934 (T934A)
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: T934A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: T934A

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.5%
  • 20x: 94.3%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,562,876 (GRCm39) E487G probably damaging Het
Aldh9a1 T A 1: 167,184,949 (GRCm39) I287N probably damaging Het
Aox1 T A 1: 58,339,821 (GRCm39) N371K probably benign Het
Atr T A 9: 95,781,113 (GRCm39) F1392L probably damaging Het
Bicra G A 7: 15,722,395 (GRCm39) P374L possibly damaging Het
Cacna1b C T 2: 24,569,188 (GRCm39) R912Q probably damaging Het
Cdhr1 T C 14: 36,801,609 (GRCm39) N778S probably benign Het
Cert1 C T 13: 96,679,736 (GRCm39) P22L probably benign Het
Dgat2 C T 7: 98,806,187 (GRCm39) V337I possibly damaging Het
Dlg5 T C 14: 24,208,395 (GRCm39) D937G probably benign Het
Dqx1 T C 6: 83,037,222 (GRCm39) V295A probably benign Het
Fam81b A C 13: 76,383,140 (GRCm39) V243G probably damaging Het
Gen1 A T 12: 11,305,051 (GRCm39) probably null Het
Glrx3 G A 7: 137,064,736 (GRCm39) S275N probably benign Het
Igdcc4 A T 9: 65,031,253 (GRCm39) Q397L probably benign Het
Ints6 C T 14: 62,951,186 (GRCm39) G281D probably damaging Het
Kalrn A T 16: 33,875,414 (GRCm39) S1722T probably benign Het
Lrrc4b A G 7: 44,111,829 (GRCm39) D567G probably damaging Het
Macf1 A G 4: 123,385,491 (GRCm39) L1200S probably damaging Het
Mad1l1 G A 5: 140,129,734 (GRCm39) R434C probably damaging Het
Mia3 A T 1: 183,109,062 (GRCm39) F358I Het
Ncapd3 C T 9: 26,942,014 (GRCm39) probably benign Het
Nfkb2 A G 19: 46,295,873 (GRCm39) R156G possibly damaging Het
Nus1 T C 10: 52,305,416 (GRCm39) probably null Het
Or2y14 C T 11: 49,405,050 (GRCm39) T195I probably benign Het
Or4a79 T A 2: 89,552,186 (GRCm39) I90F probably damaging Het
Or4c31 T C 2: 88,292,427 (GRCm39) F267L possibly damaging Het
Or5aq1b T A 2: 86,902,017 (GRCm39) I154F probably benign Het
Pafah1b2 A G 9: 45,895,147 (GRCm39) probably null Het
Pold2 T C 11: 5,826,842 (GRCm39) T31A probably benign Het
Ppp1r12b T C 1: 134,801,680 (GRCm39) N512S possibly damaging Het
Prl8a8 A T 13: 27,695,564 (GRCm39) L23Q probably damaging Het
Ptprb T C 10: 116,153,283 (GRCm39) V293A probably damaging Het
Rpl18a G T 8: 71,348,069 (GRCm39) T174N probably damaging Het
Senp5 A T 16: 31,808,128 (GRCm39) H375Q probably benign Het
Setbp1 A T 18: 78,900,015 (GRCm39) F1217L probably damaging Het
Skint4 A G 4: 111,993,218 (GRCm39) I314V probably benign Het
Slc28a2 A G 2: 122,288,682 (GRCm39) D596G probably benign Het
Stat5b A G 11: 100,688,607 (GRCm39) I285T probably benign Het
Sycp3 T C 10: 88,298,467 (GRCm39) probably null Het
Sympk T C 7: 18,770,718 (GRCm39) F270L probably damaging Het
Taar5 T C 10: 23,846,749 (GRCm39) V49A probably damaging Het
Tbx18 C T 9: 87,606,411 (GRCm39) V245I probably damaging Het
Tet1 A G 10: 62,714,586 (GRCm39) M403T probably benign Het
Tmprss11f A T 5: 86,677,769 (GRCm39) F333L probably damaging Het
Tnpo3 T C 6: 29,589,213 (GRCm39) I46V probably benign Het
Traf5 G T 1: 191,746,984 (GRCm39) N112K probably damaging Het
Trim12c A T 7: 103,991,165 (GRCm39) M263K unknown Het
Trim55 A G 3: 19,727,011 (GRCm39) I359M probably benign Het
Utp20 A T 10: 88,594,306 (GRCm39) W2140R probably benign Het
Vgll3 T C 16: 65,624,964 (GRCm39) V104A probably damaging Het
Vmn2r74 C A 7: 85,605,227 (GRCm39) G474* probably null Het
Vps18 G A 2: 119,123,237 (GRCm39) A98T probably benign Het
Zfand4 T A 6: 116,291,169 (GRCm39) S387T probably damaging Het
Zfp808 A G 13: 62,320,934 (GRCm39) Y721C probably 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
R4616:Dsg3 UTSW 18 20,664,616 (GRCm39) missense probably benign
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
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'- TAACAGGTACCAGACTTTGCC -3'
(R):5'- CACACATCCAAATTTGCCTGG -3'

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