Incidental Mutation 'R5408:Jup'
ID 426410
Institutional Source Beutler Lab
Gene Symbol Jup
Ensembl Gene ENSMUSG00000001552
Gene Name junction plakoglobin
Synonyms D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5408 (G1)
Quality Score 213
Status Validated
Chromosome 11
Chromosomal Location 100259784-100288589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100267607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 572 (R572Q)
Ref Sequence ENSEMBL: ENSMUSP00000103026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001592] [ENSMUST00000107403]
AlphaFold Q02257
Predicted Effect probably damaging
Transcript: ENSMUST00000001592
AA Change: R572Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: R572Q

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
ARM 132 171 3.58e1 SMART
ARM 172 214 4.03e1 SMART
ARM 215 255 1.07e-4 SMART
ARM 256 297 1.66e-1 SMART
ARM 299 340 1.86e1 SMART
ARM 341 381 9.23e-9 SMART
ARM 382 420 2.29e1 SMART
ARM 422 464 7.34e-3 SMART
ARM 469 510 8.3e-2 SMART
ARM 511 572 7.45e-4 SMART
ARM 573 613 5.35e-5 SMART
ARM 614 654 1.56e1 SMART
low complexity region 708 723 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107403
AA Change: R572Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: R572Q

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
ARM 132 171 3.58e1 SMART
ARM 172 214 4.03e1 SMART
ARM 215 255 1.07e-4 SMART
ARM 256 297 1.66e-1 SMART
ARM 299 340 1.86e1 SMART
ARM 341 381 9.23e-9 SMART
ARM 382 420 2.29e1 SMART
ARM 422 464 7.34e-3 SMART
ARM 469 510 8.3e-2 SMART
ARM 511 572 7.45e-4 SMART
ARM 573 613 5.35e-5 SMART
ARM 614 654 1.56e1 SMART
low complexity region 708 723 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152774
Meta Mutation Damage Score 0.4272 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly damaging Het
Other mutations in Jup
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Jup APN 11 100,277,075 (GRCm39) missense probably benign
IGL01797:Jup APN 11 100,272,498 (GRCm39) splice site probably benign
IGL01926:Jup APN 11 100,274,412 (GRCm39) missense probably benign 0.00
IGL02030:Jup APN 11 100,267,817 (GRCm39) missense probably damaging 0.96
IGL02073:Jup APN 11 100,274,215 (GRCm39) splice site probably benign
IGL02218:Jup APN 11 100,272,665 (GRCm39) missense probably damaging 1.00
IGL02450:Jup APN 11 100,269,183 (GRCm39) missense probably damaging 1.00
IGL02955:Jup APN 11 100,267,565 (GRCm39) missense probably benign 0.31
IGL02976:Jup APN 11 100,269,192 (GRCm39) missense probably benign 0.40
IGL03023:Jup APN 11 100,271,518 (GRCm39) splice site probably benign
Jove UTSW 11 100,277,113 (GRCm39) missense probably damaging 1.00
IGL02802:Jup UTSW 11 100,269,204 (GRCm39) missense probably benign
PIT4403001:Jup UTSW 11 100,268,913 (GRCm39) critical splice donor site probably null
R0426:Jup UTSW 11 100,263,227 (GRCm39) missense probably benign 0.02
R0626:Jup UTSW 11 100,267,589 (GRCm39) missense probably benign
R1330:Jup UTSW 11 100,263,502 (GRCm39) missense probably benign 0.02
R1437:Jup UTSW 11 100,274,402 (GRCm39) missense probably benign 0.06
R1448:Jup UTSW 11 100,274,026 (GRCm39) missense probably damaging 1.00
R1473:Jup UTSW 11 100,270,427 (GRCm39) missense possibly damaging 0.79
R1686:Jup UTSW 11 100,263,260 (GRCm39) missense probably damaging 0.96
R1824:Jup UTSW 11 100,264,963 (GRCm39) nonsense probably null
R1875:Jup UTSW 11 100,263,120 (GRCm39) splice site probably null
R2017:Jup UTSW 11 100,277,167 (GRCm39) missense probably benign 0.01
R2989:Jup UTSW 11 100,267,667 (GRCm39) missense possibly damaging 0.92
R3881:Jup UTSW 11 100,269,207 (GRCm39) missense probably benign
R3882:Jup UTSW 11 100,269,207 (GRCm39) missense probably benign
R4176:Jup UTSW 11 100,263,287 (GRCm39) missense probably benign 0.03
R4612:Jup UTSW 11 100,272,660 (GRCm39) missense probably damaging 0.98
R4808:Jup UTSW 11 100,269,018 (GRCm39) missense probably damaging 0.99
R4854:Jup UTSW 11 100,273,867 (GRCm39) missense possibly damaging 0.73
R4995:Jup UTSW 11 100,270,367 (GRCm39) nonsense probably null
R5133:Jup UTSW 11 100,273,941 (GRCm39) missense probably benign 0.02
R5641:Jup UTSW 11 100,267,632 (GRCm39) missense possibly damaging 0.62
R5991:Jup UTSW 11 100,270,395 (GRCm39) missense possibly damaging 0.59
R6431:Jup UTSW 11 100,265,167 (GRCm39) missense probably benign 0.01
R6805:Jup UTSW 11 100,274,284 (GRCm39) missense probably benign 0.17
R7022:Jup UTSW 11 100,270,379 (GRCm39) missense probably damaging 1.00
R7203:Jup UTSW 11 100,272,560 (GRCm39) missense probably damaging 1.00
R7399:Jup UTSW 11 100,269,177 (GRCm39) missense possibly damaging 0.87
R7707:Jup UTSW 11 100,273,878 (GRCm39) missense possibly damaging 0.90
R8017:Jup UTSW 11 100,265,023 (GRCm39) missense probably benign 0.34
R8019:Jup UTSW 11 100,265,023 (GRCm39) missense probably benign 0.34
R8074:Jup UTSW 11 100,277,113 (GRCm39) missense probably damaging 1.00
R8181:Jup UTSW 11 100,267,751 (GRCm39) missense probably damaging 1.00
R8326:Jup UTSW 11 100,272,571 (GRCm39) missense probably benign 0.33
R8969:Jup UTSW 11 100,270,391 (GRCm39) missense probably damaging 1.00
R8970:Jup UTSW 11 100,270,391 (GRCm39) missense probably damaging 1.00
R8971:Jup UTSW 11 100,270,391 (GRCm39) missense probably damaging 1.00
R9139:Jup UTSW 11 100,270,391 (GRCm39) missense probably damaging 1.00
R9140:Jup UTSW 11 100,270,391 (GRCm39) missense probably damaging 1.00
R9145:Jup UTSW 11 100,269,124 (GRCm39) missense probably benign 0.01
R9168:Jup UTSW 11 100,274,219 (GRCm39) critical splice donor site probably null
R9370:Jup UTSW 11 100,270,391 (GRCm39) missense probably damaging 1.00
R9372:Jup UTSW 11 100,270,391 (GRCm39) missense probably damaging 1.00
R9373:Jup UTSW 11 100,270,391 (GRCm39) missense probably damaging 1.00
R9381:Jup UTSW 11 100,270,391 (GRCm39) missense probably damaging 1.00
R9506:Jup UTSW 11 100,267,704 (GRCm39) missense probably damaging 1.00
R9685:Jup UTSW 11 100,274,237 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTGATCTAAGTTCGGAAAGC -3'
(R):5'- ACTATTGGCCTGATCCGGAAC -3'

Sequencing Primer
(F):5'- TCTAAGTTCGGAAAGCCACTTATCC -3'
(R):5'- TGATCCGGAACCTGGCTCTG -3'
Posted On 2016-09-01