Incidental Mutation 'R2571:Dsg3'
ID 252613
Institutional Source Beutler Lab
Gene Symbol Dsg3
Ensembl Gene ENSMUSG00000056632
Gene Name desmoglein 3
Synonyms
MMRRC Submission 040429-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.427) question?
Stock # R2571 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 20643331-20674367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20673062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 911 (V911A)
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: V911A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: V911A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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 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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,289,044 (GRCm39) N2438S probably benign Het
Ago3 G A 4: 126,257,604 (GRCm39) R476W probably damaging Het
Akap8 T C 17: 32,534,429 (GRCm39) E339G probably damaging Het
Apba2 T C 7: 64,395,498 (GRCm39) V658A probably damaging Het
Bcl3 T C 7: 19,543,452 (GRCm39) D338G probably damaging Het
Bpnt2 C T 4: 4,778,192 (GRCm39) probably null Het
Ccdc138 T C 10: 58,349,044 (GRCm39) Y197H probably benign Het
Ccdc162 T A 10: 41,428,393 (GRCm39) Q499L probably damaging Het
Ccser1 G A 6: 61,399,944 (GRCm39) C21Y probably damaging Het
Chil6 A T 3: 106,297,709 (GRCm39) Y229* probably null Het
Cntnap5a C T 1: 116,112,092 (GRCm39) R461C probably damaging Het
Col19a1 T A 1: 24,413,712 (GRCm39) R407S unknown Het
Crlf3 A T 11: 79,938,339 (GRCm39) F433I probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah10 A T 5: 124,852,542 (GRCm39) R1867W probably damaging Het
Dzip3 T C 16: 48,792,581 (GRCm39) probably null Het
Evpl T C 11: 116,128,795 (GRCm39) Q10R unknown Het
Glra3 C T 8: 56,563,516 (GRCm39) A337V probably benign Het
H2-T5 C T 17: 36,478,553 (GRCm39) G132R possibly damaging Het
Hcfc2 T C 10: 82,544,857 (GRCm39) F163S probably damaging Het
Hells T C 19: 38,948,177 (GRCm39) V701A possibly damaging Het
Helz A G 11: 107,504,778 (GRCm39) T422A probably benign Het
Hhat G A 1: 192,235,330 (GRCm39) T442I probably damaging Het
Hmces A T 6: 87,913,202 (GRCm39) Q319L possibly damaging Het
Ighv1-62-1 T A 12: 115,350,377 (GRCm39) T97S probably damaging Het
Kcne2 C T 16: 92,093,800 (GRCm39) T109I probably damaging Het
Kcnq1 T G 7: 142,661,433 (GRCm39) L113R probably benign Het
Kdm5d T C Y: 940,932 (GRCm39) S1106P probably benign Het
Kel C A 6: 41,665,001 (GRCm39) A588S possibly damaging Het
Kmt2e T A 5: 23,706,885 (GRCm39) F1483I probably benign Het
Krt4 T A 15: 101,829,692 (GRCm39) N279Y probably damaging Het
Lama4 T A 10: 38,918,671 (GRCm39) M384K possibly damaging Het
Lepr C T 4: 101,625,369 (GRCm39) T508I possibly damaging Het
Lypd10 A G 7: 24,412,819 (GRCm39) I76V probably benign Het
Map1lc3b T A 8: 122,320,213 (GRCm39) probably null Het
Me1 T C 9: 86,536,751 (GRCm39) H108R probably damaging Het
Mindy4 T C 6: 55,261,770 (GRCm39) S560P probably damaging Het
Mmp3 T A 9: 7,451,844 (GRCm39) I394N possibly damaging Het
Mmrn2 T C 14: 34,124,896 (GRCm39) S826P probably damaging Het
Or13n4 T A 7: 106,422,933 (GRCm39) M267L probably benign Het
Osbpl7 T C 11: 96,945,667 (GRCm39) L138P probably damaging Het
Pcdhga11 G A 18: 37,889,921 (GRCm39) E310K probably damaging Het
Pcif1 A G 2: 164,726,131 (GRCm39) D39G probably damaging Het
Ppp1r21 C T 17: 88,852,810 (GRCm39) T63I probably benign Het
Prickle2 T C 6: 92,682,381 (GRCm39) Q25R probably benign Het
Ptk2 A G 15: 73,103,768 (GRCm39) L94P probably damaging Het
Ptprg T C 14: 12,122,135 (GRCm38) F333S probably benign Het
Rag2 T A 2: 101,460,312 (GRCm39) H207Q probably damaging Het
Rps6ka1 G T 4: 133,587,923 (GRCm39) probably null Het
Rps6ka4 G T 19: 6,815,471 (GRCm39) H174Q probably damaging Het
Rreb1 C A 13: 38,083,613 (GRCm39) T92K probably damaging Het
Ryr1 A T 7: 28,708,987 (GRCm39) M4793K unknown Het
Ryr1 T A 7: 28,735,551 (GRCm39) M4076L possibly damaging Het
Sec16a A C 2: 26,329,343 (GRCm39) S891A probably benign Het
Sgsh A G 11: 119,241,340 (GRCm39) Y132H probably damaging Het
Sos2 T A 12: 69,682,492 (GRCm39) E242V possibly damaging Het
Spata31d1c G T 13: 65,184,198 (GRCm39) R580L probably damaging Het
Spata9 C A 13: 76,115,880 (GRCm39) probably benign Het
Tead2 T A 7: 44,875,194 (GRCm39) V202E probably damaging Het
Thada T C 17: 84,762,068 (GRCm39) K168E probably damaging Het
Tmem64 T C 4: 15,266,718 (GRCm39) I256T probably damaging Het
Tra2a G T 6: 49,229,421 (GRCm39) probably benign Het
Trim30a T A 7: 104,078,533 (GRCm39) N181I possibly damaging Het
Ttc13 A C 8: 125,410,538 (GRCm39) Y372D probably damaging Het
Vit T C 17: 78,894,174 (GRCm39) V192A probably benign Het
Vmn2r69 T C 7: 85,064,764 (GRCm39) T41A probably benign Het
Vps13d C A 4: 144,875,706 (GRCm39) K1600N probably benign Het
Xpnpep3 A T 15: 81,335,127 (GRCm39) H420L probably damaging Het
Zfp322a A G 13: 23,540,614 (GRCm39) L376P probably damaging Het
Zfp619 T C 7: 39,186,595 (GRCm39) L875P probably damaging Het
Zic5 T A 14: 122,696,890 (GRCm39) Q575L unknown 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
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
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'- AGGCCCTAAAGACAGTGGTTC -3'
(R):5'- CATATTGTATGAGCCTCGCAGTTC -3'

Sequencing Primer
(F):5'- TCTGGGGCTGATACCTGC -3'
(R):5'- TGGGAGCCACTATACTGCTG -3'
Posted On 2014-12-04