Incidental Mutation 'R5641:Jup'
ID 440682
Institutional Source Beutler Lab
Gene Symbol Jup
Ensembl Gene ENSMUSG00000001552
Gene Name junction plakoglobin
Synonyms D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5641 (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 A at 100267632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 564 (T564S)
Ref Sequence ENSEMBL: ENSMUSP00000103026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001592] [ENSMUST00000107403]
AlphaFold Q02257
Predicted Effect possibly damaging
Transcript: ENSMUST00000001592
AA Change: T564S

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: T564S

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 possibly damaging
Transcript: ENSMUST00000107403
AA Change: T564S

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: T564S

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A T 16: 14,289,877 (GRCm39) M1398L probably benign Het
Acad12 A G 5: 121,742,084 (GRCm39) probably benign Het
Aldh1a7 T C 19: 20,693,293 (GRCm39) I209V probably benign Het
Alkal2 G A 12: 30,937,264 (GRCm39) probably null Het
Aqr A G 2: 113,979,515 (GRCm39) F307L probably damaging Het
Atp2a2 A G 5: 122,595,639 (GRCm39) L932P probably damaging Het
Atxn7 T C 14: 14,013,638 (GRCm38) M113T probably damaging Het
Blzf1 T A 1: 164,134,038 (GRCm39) M4L probably benign Het
Brca2 C A 5: 150,480,364 (GRCm39) S2711R probably damaging Het
Bzw1 A T 1: 58,436,883 (GRCm39) Q70L probably damaging Het
Cd34 T A 1: 194,630,276 (GRCm39) I70N probably benign Het
Chac1 A G 2: 119,181,999 (GRCm39) Y39C probably damaging Het
Col6a2 G C 10: 76,449,112 (GRCm39) P275A probably damaging Het
Crb1 T A 1: 139,176,627 (GRCm39) N452I probably damaging Het
Ctrc T C 4: 141,566,094 (GRCm39) N188S probably damaging Het
Dnah7b G A 1: 46,307,924 (GRCm39) probably null Het
Etl4 GGGGAAGAACCGG GGG 2: 20,811,273 (GRCm39) probably null Het
Exoc6 T A 19: 37,576,081 (GRCm39) probably null Het
Gm5616 T A 9: 48,361,716 (GRCm39) noncoding transcript Het
Gm7535 T C 17: 18,131,788 (GRCm39) probably benign Het
Hnrnpr T C 4: 136,059,798 (GRCm39) S200P probably damaging Het
Ighg2b T C 12: 113,270,767 (GRCm39) N121S unknown Het
Il21 T A 3: 37,281,917 (GRCm39) K76* probably null Het
Kcns2 G C 15: 34,839,199 (GRCm39) R187S possibly damaging Het
Klhl18 G A 9: 110,275,896 (GRCm39) T84M probably damaging Het
Mtor T A 4: 148,630,882 (GRCm39) L2280M probably damaging Het
Ncoa6 A G 2: 155,263,756 (GRCm39) I226T probably benign Het
Nipbl A T 15: 8,396,196 (GRCm39) Y126N possibly damaging Het
Nlrp4a T A 7: 26,149,589 (GRCm39) C399S probably damaging Het
Nphp3 A G 9: 103,913,352 (GRCm39) K54E probably damaging Het
Nsun2 T A 13: 69,771,368 (GRCm39) V326E probably benign Het
Oosp3 T C 19: 11,674,537 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,746 (GRCm39) I38T probably benign Het
Pcdhga9 T C 18: 37,871,301 (GRCm39) S377P probably damaging Het
Pdlim3 A G 8: 46,368,300 (GRCm39) probably null Het
Pla2r1 A T 2: 60,345,328 (GRCm39) W343R probably damaging Het
Prox2 A G 12: 85,134,721 (GRCm39) V520A probably benign Het
Rfx3 T C 19: 27,771,008 (GRCm39) probably null Het
Rif1 A C 2: 52,011,170 (GRCm39) R2412S possibly damaging Het
Rreb1 T C 13: 38,131,397 (GRCm39) L1517P probably benign Het
Rxfp1 T C 3: 79,594,199 (GRCm39) N65S probably damaging Het
Sbf2 T C 7: 110,038,108 (GRCm39) E399G probably damaging Het
Slc36a4 A C 9: 15,640,098 (GRCm39) probably null Het
Slco1a1 A T 6: 141,885,695 (GRCm39) M110K probably damaging Het
Stat5a T A 11: 100,767,634 (GRCm39) C401S probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tmem150c T C 5: 100,231,523 (GRCm39) T151A probably damaging Het
Ube4a A T 9: 44,862,179 (GRCm39) M173K probably damaging Het
Vmn1r188 A T 13: 22,272,342 (GRCm39) S99C probably damaging Het
Vmn2r70 C T 7: 85,208,572 (GRCm39) C635Y probably damaging Het
Zfp644 T C 5: 106,767,461 (GRCm39) K24E probably 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
R5408:Jup UTSW 11 100,267,607 (GRCm39) missense probably damaging 1.00
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'- CTCGTGATCTAAGTTCGGAAAGC -3'
(R):5'- TATTGGCCTGATCCGGAACC -3'

Sequencing Primer
(F):5'- TCTAAGTTCGGAAAGCCACTTATCC -3'
(R):5'- TGATCCGGAACCTGGCTCTG -3'
Posted On 2016-11-08