Incidental Mutation 'R5133:Jup'
ID 395952
Institutional Source Beutler Lab
Gene Symbol Jup
Ensembl Gene ENSMUSG00000001552
Gene Name junction plakoglobin
Synonyms D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng
MMRRC Submission 042721-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5133 (G1)
Quality Score 202
Status Not validated
Chromosome 11
Chromosomal Location 100259784-100288589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100273941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 200 (D200G)
Ref Sequence ENSEMBL: ENSMUSP00000103026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001592] [ENSMUST00000107403]
AlphaFold Q02257
Predicted Effect probably benign
Transcript: ENSMUST00000001592
AA Change: D200G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: D200G

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 benign
Transcript: ENSMUST00000107403
AA Change: D200G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: D200G

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: ENSMUST00000123903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155746
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A T 4: 128,655,934 (GRCm39) T101S probably damaging Het
Abraxas2 C T 7: 132,484,875 (GRCm39) A306V probably benign Het
Acvr1c T A 2: 58,173,518 (GRCm39) N248I probably damaging Het
Adgrv1 C T 13: 81,587,560 (GRCm39) R4537Q probably damaging Het
Adrb3 A C 8: 27,717,798 (GRCm39) M217R probably damaging Het
Afg3l1 T C 8: 124,216,532 (GRCm39) V257A probably benign Het
Agbl1 C A 7: 76,071,904 (GRCm39) Q334K probably benign Het
Aox4 A T 1: 58,275,835 (GRCm39) D389V probably benign Het
Apob A T 12: 8,058,898 (GRCm39) Q2427L probably damaging Het
Asxl3 T C 18: 22,649,765 (GRCm39) C585R probably damaging Het
Baz2a G A 10: 127,951,995 (GRCm39) G571D probably damaging Het
Baz2b A T 2: 59,792,368 (GRCm39) S587T probably benign Het
Bicdl2 T C 17: 23,880,795 (GRCm39) L14P unknown Het
Cachd1 G A 4: 100,851,935 (GRCm39) S1177N probably damaging Het
Cacna2d3 A G 14: 29,015,135 (GRCm39) F86L possibly damaging Het
Ccdc192 C T 18: 57,697,041 (GRCm39) T65I possibly damaging Het
Cd3d A T 9: 44,896,296 (GRCm39) E28D probably damaging Het
Cmya5 T C 13: 93,229,880 (GRCm39) K1736R possibly damaging Het
Col12a1 A G 9: 79,512,456 (GRCm39) V2913A probably damaging Het
Cops8 A G 1: 90,538,724 (GRCm39) D51G probably damaging Het
Csgalnact1 T C 8: 68,913,623 (GRCm39) E194G probably benign Het
Csn1s1 A G 5: 87,828,737 (GRCm39) D267G possibly damaging Het
Cyp2c40 T C 19: 39,795,663 (GRCm39) N172S probably benign Het
Dhtkd1 T A 2: 5,908,813 (GRCm39) K760N probably damaging Het
Dnah17 T C 11: 118,007,939 (GRCm39) K691E probably benign Het
Dppa4 G A 16: 48,113,334 (GRCm39) R189Q probably benign Het
Dsp G A 13: 38,381,678 (GRCm39) D2808N possibly damaging Het
Egr2 A G 10: 67,375,605 (GRCm39) E17G probably damaging Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Epas1 A G 17: 87,116,882 (GRCm39) N184S probably damaging Het
Ezh2 C T 6: 47,517,684 (GRCm39) C584Y probably damaging Het
F10 T C 8: 13,105,698 (GRCm39) V421A probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam186a T G 15: 99,853,374 (GRCm39) D122A unknown Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fam234b T C 6: 135,186,193 (GRCm39) V67A probably benign Het
Fbn2 T C 18: 58,172,412 (GRCm39) D2131G probably damaging Het
Fgfr4 T C 13: 55,307,828 (GRCm39) Y271H probably damaging Het
Gnmt A T 17: 47,036,860 (GRCm39) S250T probably benign Het
Golgb1 C A 16: 36,711,819 (GRCm39) Q208K possibly damaging Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Grwd1 T C 7: 45,475,298 (GRCm39) T415A probably benign Het
Gsk3b G A 16: 38,060,882 (GRCm39) R418H probably damaging Het
Hap1 T G 11: 100,242,357 (GRCm39) M382L probably benign Het
Hspa12b A G 2: 130,981,428 (GRCm39) E221G possibly damaging Het
Hspa4l T A 3: 40,741,179 (GRCm39) D709E possibly damaging Het
Il17ra A G 6: 120,458,514 (GRCm39) E555G possibly damaging Het
Il27ra T C 8: 84,760,688 (GRCm39) T426A possibly damaging Het
Kcnq1 T C 7: 142,748,083 (GRCm39) probably null Het
Kctd9 C T 14: 67,966,805 (GRCm39) T106I probably damaging Het
Kmt5b T A 19: 3,852,240 (GRCm39) H159Q probably damaging Het
Kprp C T 3: 92,731,829 (GRCm39) R407Q unknown Het
Kras T C 6: 145,177,879 (GRCm39) Q131R probably benign Het
Krt16 T A 11: 100,138,457 (GRCm39) R230S probably damaging Het
Lpar6 G A 14: 73,476,147 (GRCm39) C36Y probably damaging Het
Lrp10 T C 14: 54,707,067 (GRCm39) S635P probably benign Het
Mapre2 C A 18: 23,991,190 (GRCm39) H153N possibly damaging Het
Mark3 C A 12: 111,621,762 (GRCm39) R703S probably damaging Het
Mboat2 A G 12: 25,009,065 (GRCm39) D457G probably benign Het
Med13 T C 11: 86,210,675 (GRCm39) D489G probably benign Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Mtus1 T C 8: 41,536,229 (GRCm39) T496A probably benign Het
Nckap5 T C 1: 125,961,697 (GRCm39) H204R probably benign Het
Nlrc4 G T 17: 74,753,712 (GRCm39) P224T possibly damaging Het
Oprl1 T A 2: 181,360,403 (GRCm39) I153N probably damaging Het
Or13a27 A T 7: 139,925,236 (GRCm39) I222N probably damaging Het
Or4c116 A T 2: 88,942,140 (GRCm39) probably null Het
Or5an1 T C 19: 12,260,670 (GRCm39) L86P possibly damaging Het
Or5b121 T A 19: 13,507,442 (GRCm39) M135K probably damaging Het
Otud4 G A 8: 80,382,318 (GRCm39) V176I probably damaging Het
Pcdhb5 T C 18: 37,453,943 (GRCm39) F108L probably benign Het
Pde8b T C 13: 95,223,250 (GRCm39) I335V probably benign Het
Pdzd7 T A 19: 45,016,868 (GRCm39) I886L possibly damaging Het
Prune2 C T 19: 16,980,995 (GRCm39) P51S probably damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwwp3a T C 10: 80,068,702 (GRCm39) L282P probably benign Het
Rab27b T C 18: 70,122,659 (GRCm39) D100G probably damaging Het
Rpf1 A G 3: 146,212,293 (GRCm39) L349S probably damaging Het
Samd14 T C 11: 94,912,409 (GRCm39) S233P probably damaging Het
Sema6a C A 18: 47,433,195 (GRCm39) V79F probably damaging Het
Setbp1 A G 18: 78,900,697 (GRCm39) I990T probably damaging Het
Setx A G 2: 29,070,093 (GRCm39) R2633G probably benign Het
Siae T G 9: 37,557,816 (GRCm39) I541S possibly damaging Het
Slc13a1 A G 6: 24,103,428 (GRCm39) S372P possibly damaging Het
Smarcc2 T C 10: 128,297,342 (GRCm39) probably null Het
Snrpf T C 10: 93,423,985 (GRCm39) S2G probably benign Het
Speer2 C A 16: 69,655,708 (GRCm39) K39N probably null Het
Spink5 T G 18: 44,119,490 (GRCm39) F267C probably damaging Het
Tgfbrap1 G T 1: 43,114,666 (GRCm39) R145S probably damaging Het
Tmem161b C A 13: 84,442,887 (GRCm39) T269K possibly damaging Het
Tmem64 T C 4: 15,281,119 (GRCm39) I304T probably damaging Het
Tomm7 A G 5: 24,049,004 (GRCm39) I23T probably benign Het
Top6bl T A 19: 4,708,449 (GRCm39) S194C probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttr C T 18: 20,803,167 (GRCm39) A111V possibly damaging Het
Usp47 T A 7: 111,683,089 (GRCm39) Y561N probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Wdr45b A G 11: 121,219,621 (GRCm39) I309T probably benign Het
Wnt6 T C 1: 74,823,755 (GRCm39) L364P probably damaging Het
Zc3h13 T C 14: 75,573,449 (GRCm39) L1530P probably damaging Het
Zfp933 A G 4: 147,911,321 (GRCm39) W60R probably benign 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
R5408:Jup UTSW 11 100,267,607 (GRCm39) missense probably damaging 1.00
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'- CCCAGAGTTGTCAAAGCTCTG -3'
(R):5'- GAGGCTATCTGCTCAAGGTC -3'

Sequencing Primer
(F):5'- CAACTTGTATTGGAAGCCCAG -3'
(R):5'- GGCTATCTGCTCAAGGTCTCACAC -3'
Posted On 2016-06-21