Incidental Mutation 'R1437:Jup'
ID 161315
Institutional Source Beutler Lab
Gene Symbol Jup
Ensembl Gene ENSMUSG00000001552
Gene Name junction plakoglobin
Synonyms D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng
MMRRC Submission 039492-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1437 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100259784-100288589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100274402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 96 (E96G)
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: E96G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: E96G

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: E96G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: E96G

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: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,871,436 (GRCm39) V330E possibly damaging Het
Abcb5 A G 12: 118,838,497 (GRCm39) S1022P probably damaging Het
Abcc8 A G 7: 45,829,237 (GRCm39) I46T probably damaging Het
Add3 A G 19: 53,222,109 (GRCm39) R275G probably damaging Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Arhgef4 A G 1: 34,763,026 (GRCm39) T761A unknown Het
Asap1 A T 15: 63,991,956 (GRCm39) L751Q probably damaging Het
Atg2a C A 19: 6,300,646 (GRCm39) P741H probably damaging Het
Atxn10 T C 15: 85,243,675 (GRCm39) I46T possibly damaging Het
BC049715 C A 6: 136,817,090 (GRCm39) A110E probably damaging Het
Bltp1 C A 3: 36,996,578 (GRCm39) H1097N possibly damaging Het
Btbd7 T A 12: 102,754,349 (GRCm39) T806S possibly damaging Het
Cdk4 C A 10: 126,900,558 (GRCm39) P108H probably damaging Het
Cep290 A G 10: 100,407,963 (GRCm39) T2391A probably benign Het
Col6a3 G T 1: 90,729,098 (GRCm39) A1281E probably damaging Het
Cpa5 A T 6: 30,624,654 (GRCm39) I165F probably damaging Het
Ctdp1 G T 18: 80,493,428 (GRCm39) Q356K probably benign Het
Ddx21 A G 10: 62,434,369 (GRCm39) M130T unknown Het
Epha5 T G 5: 84,381,555 (GRCm39) D432A probably damaging Het
Esr1 ACGCCGCCGCCGCCGCCGCCGCCGCCGCC ACGCCGCCGCCGCCGCCGCCGCCGCC 10: 4,662,571 (GRCm39) probably benign Het
Fads2 A T 19: 10,069,193 (GRCm39) L77Q probably benign Het
Fbn2 A T 18: 58,186,731 (GRCm39) H1723Q possibly damaging Het
Fbxo42 C T 4: 140,895,165 (GRCm39) H43Y probably benign Het
Fry A G 5: 150,233,890 (GRCm39) T121A possibly damaging Het
Gpr156 T G 16: 37,808,904 (GRCm39) S209A probably damaging Het
Hey2 T C 10: 30,709,845 (GRCm39) T303A probably benign Het
Hivep1 T A 13: 42,310,616 (GRCm39) M952K probably benign Het
Hydin C T 8: 111,308,617 (GRCm39) Q3968* probably null Het
Kcnn1 A G 8: 71,297,195 (GRCm39) I504T probably benign Het
Klk1b9 T C 7: 43,629,114 (GRCm39) V174A probably damaging Het
Lama3 G C 18: 12,682,284 (GRCm39) M1083I possibly damaging Het
Lcmt2 A G 2: 120,969,377 (GRCm39) S569P probably benign Het
Lrfn2 T C 17: 49,378,253 (GRCm39) S445P probably damaging Het
Lrp3 C A 7: 34,912,595 (GRCm39) G31W probably damaging Het
Lrrc8b T C 5: 105,629,568 (GRCm39) L638P probably damaging Het
Mief2 C T 11: 60,621,769 (GRCm39) T113M probably benign Het
Mrps2 T C 2: 28,358,899 (GRCm39) F76S probably damaging Het
Naca A G 10: 127,878,048 (GRCm39) probably benign Het
Ndst4 C A 3: 125,355,099 (GRCm39) R336S probably damaging Het
Nr1i3 CACTCAACACTAC CAC 1: 171,044,710 (GRCm39) probably null Het
Nr5a1 T A 2: 38,600,685 (GRCm39) T29S probably benign Het
Or5ak23 T C 2: 85,245,218 (GRCm39) I2V probably benign Het
Or5as1 C T 2: 86,980,115 (GRCm39) V297M possibly damaging Het
Pald1 A G 10: 61,177,064 (GRCm39) F662S possibly damaging Het
Pdcd4 G T 19: 53,897,674 (GRCm39) A59S probably damaging Het
Pde4a T C 9: 21,103,888 (GRCm39) probably null Het
Pkd1 T A 17: 24,814,106 (GRCm39) S4159T probably damaging Het
Plaat1 C A 16: 29,046,922 (GRCm39) A147E possibly damaging Het
Plch1 C A 3: 63,604,954 (GRCm39) R1641L probably benign Het
Plec G T 15: 76,073,481 (GRCm39) P308Q probably damaging Het
Pnkp A G 7: 44,509,826 (GRCm39) S262G possibly damaging Het
Pou2f1 A G 1: 165,719,399 (GRCm39) V504A probably damaging Het
Prepl G A 17: 85,395,785 (GRCm39) R66W probably damaging Het
Rasgrf2 T C 13: 92,167,396 (GRCm39) K226E probably damaging Het
Ror1 T A 4: 100,269,306 (GRCm39) F381L probably benign Het
Sbsn C T 7: 30,452,478 (GRCm39) Q498* probably null Het
Scgb2b19 T C 7: 32,977,980 (GRCm39) I106V probably benign Het
Sf3a2 G A 10: 80,640,040 (GRCm39) probably benign Het
Sis T C 3: 72,841,475 (GRCm39) H780R probably damaging Het
Slc28a3 G T 13: 58,706,389 (GRCm39) C617* probably null Het
Slc44a1 T A 4: 53,561,006 (GRCm39) V574D probably damaging Het
Slc8a3 T A 12: 81,362,760 (GRCm39) T20S probably damaging Het
Stt3b T A 9: 115,083,995 (GRCm39) I394F probably damaging Het
Ubap1l T A 9: 65,279,337 (GRCm39) V212D possibly damaging Het
Ugt2b35 T C 5: 87,148,890 (GRCm39) V47A probably benign Het
Vmn2r114 A G 17: 23,510,185 (GRCm39) F765S probably damaging Het
Vps50 C T 6: 3,517,852 (GRCm39) Q97* probably null Het
Vsig10 A G 5: 117,489,635 (GRCm39) Q467R probably damaging Het
Wdsub1 T G 2: 59,708,477 (GRCm39) Y11S probably damaging Het
Zbtb11 T G 16: 55,811,983 (GRCm39) probably null 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
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
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'- GTGTGAGACCTTGAGCAGATAGCC -3'
(R):5'- CTGTACTTTGGAGAAACATGAGGGAGC -3'

Sequencing Primer
(F):5'- CGTGGCATCCTTAGATGACC -3'
(R):5'- CATGAGGGAGCTTGGAGCC -3'
Posted On 2014-03-14