Incidental Mutation 'R4641:Dsg3'
ID 351665
Institutional Source Beutler Lab
Gene Symbol Dsg3
Ensembl Gene ENSMUSG00000056632
Gene Name desmoglein 3
Synonyms
MMRRC Submission 041903-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.427) question?
Stock # R4641 (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 A at 20653615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 54 (F54I)
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: F54I

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: F54I

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,841,615 (GRCm39) probably null Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Ehbp1 G A 11: 22,045,892 (GRCm39) S619L probably benign Het
Eif1ad3 A G 12: 87,843,446 (GRCm39) Y31C probably damaging Het
Eif1ad5 A G 12: 87,946,852 (GRCm39) D98G probably benign Het
Erlec1 G A 11: 30,898,442 (GRCm39) Q10* probably null Het
Fbxw14 A G 9: 109,107,750 (GRCm39) probably null Het
Fhod1 C T 8: 106,056,224 (GRCm39) R1163H probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm4846 G A 1: 166,311,462 (GRCm39) P466S probably damaging Het
Ift122 A T 6: 115,865,726 (GRCm39) K339* probably null Het
Il6st T C 13: 112,625,064 (GRCm39) S227P probably damaging Het
Letmd1 A G 15: 100,375,708 (GRCm39) Y198C probably damaging Het
Map3k4 A T 17: 12,482,932 (GRCm39) L595Q probably damaging Het
Mdc1 C G 17: 36,168,361 (GRCm39) R1656G probably benign Het
Megf11 C T 9: 64,597,407 (GRCm39) S662L possibly damaging Het
Mrps25 T C 6: 92,160,881 (GRCm39) E25G probably benign Het
Myh2 G T 11: 67,085,520 (GRCm39) G1815C probably damaging Het
Myo15a A G 11: 60,393,867 (GRCm39) D2353G probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
P2rx5 A T 11: 73,058,390 (GRCm39) H275L possibly damaging Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Rnf123 T C 9: 107,935,786 (GRCm39) D920G probably damaging Het
Slc44a2 A G 9: 21,258,178 (GRCm39) Y474C probably damaging Het
Slc9a4 T A 1: 40,646,285 (GRCm39) F439I probably damaging Het
Snap91 A G 9: 86,761,528 (GRCm39) V26A probably damaging Het
Spata31d1c C A 13: 65,182,862 (GRCm39) Q135K probably benign Het
Stard8 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA X: 98,110,114 (GRCm39) probably benign Het
Tlk2 T C 11: 105,166,809 (GRCm39) I669T probably benign Het
Tmem273 A G 14: 32,528,839 (GRCm39) D68G probably damaging Het
Ttc38 T C 15: 85,728,659 (GRCm39) S204P possibly damaging Het
Ttn T A 2: 76,617,155 (GRCm39) Y16403F probably damaging Het
Ttyh2 G T 11: 114,592,609 (GRCm39) W213L probably damaging Het
Ugt2a2 A T 5: 87,610,755 (GRCm39) D360E probably damaging Het
Vwa5b2 A T 16: 20,423,393 (GRCm39) H1102L probably damaging Het
Zbtb41 A T 1: 139,370,557 (GRCm39) T665S probably damaging Het
Zfp292 T C 4: 34,807,828 (GRCm39) I1739V 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
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'- CTGCTTCTTGGCAAAGTGAG -3'
(R):5'- TACTAGAGTCTGGTACAAACACC -3'

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