Incidental Mutation 'R7399:Jup'
ID 574047
Institutional Source Beutler Lab
Gene Symbol Jup
Ensembl Gene ENSMUSG00000001552
Gene Name junction plakoglobin
Synonyms PG, gamma-catenin, Ctnng, plakoglobin, D930025P04Rik
MMRRC Submission 045481-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7399 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100368958-100397763 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100378351 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 412 (T412K)
Ref Sequence ENSEMBL: ENSMUSP00000001592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001592] [ENSMUST00000107403]
AlphaFold Q02257
Predicted Effect possibly damaging
Transcript: ENSMUST00000001592
AA Change: T412K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: T412K

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: T412K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: T412K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,260,679 (GRCm38) V801G possibly damaging Het
Actbl2 T A 13: 111,255,593 (GRCm38) M154K probably benign Het
Adam7 A T 14: 68,504,466 (GRCm38) probably null Het
Arfgef1 T A 1: 10,180,897 (GRCm38) T888S probably benign Het
AW554918 C T 18: 25,169,060 (GRCm38) P10L possibly damaging Het
Bcap29 A G 12: 31,630,882 (GRCm38) I35T probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 (GRCm38) 254 probably null Het
Cby2 A G 14: 75,592,637 (GRCm38) S39P probably benign Het
Cdc25b A G 2: 131,194,654 (GRCm38) D458G probably damaging Het
Cdc42bpb T C 12: 111,305,667 (GRCm38) K1104R probably benign Het
Cep89 A G 7: 35,438,378 (GRCm38) N729S probably damaging Het
Clec4a4 T A 6: 122,991,829 (GRCm38) M51K possibly damaging Het
Dcdc2b A G 4: 129,609,629 (GRCm38) L270P probably damaging Het
Dennd5b G T 6: 149,036,483 (GRCm38) H639N probably damaging Het
Dnah11 T C 12: 118,125,785 (GRCm38) E1182G probably damaging Het
Dnah11 T G 12: 118,027,477 (GRCm38) T2385P probably benign Het
Dok7 T C 5: 35,066,471 (GRCm38) V81A probably damaging Het
Dtx1 T A 5: 120,682,393 (GRCm38) M494L possibly damaging Het
Foxj1 A T 11: 116,332,254 (GRCm38) L241Q possibly damaging Het
Gbp10 G A 5: 105,236,149 (GRCm38) probably benign Het
Hnmt T A 2: 24,003,880 (GRCm38) T201S probably benign Het
Kcnh2 G A 5: 24,322,059 (GRCm38) S954F probably damaging Het
Klhdc7b A C 15: 89,388,644 (GRCm38) K585T possibly damaging Het
Klk7 T A 7: 43,812,000 (GRCm38) S14T probably benign Het
Lama4 G A 10: 39,047,948 (GRCm38) E451K probably damaging Het
Ldhb A G 6: 142,495,673 (GRCm38) C164R probably damaging Het
Malrd1 G A 2: 15,610,090 (GRCm38) D239N Het
Mgam T A 6: 40,666,854 (GRCm38) V572E probably damaging Het
Mrgprb2 G T 7: 48,552,142 (GRCm38) N278K probably damaging Het
Msto1 A G 3: 88,911,823 (GRCm38) Y206H probably damaging Het
Myo6 A G 9: 80,262,291 (GRCm38) S467G unknown Het
Mysm1 T A 4: 94,961,727 (GRCm38) I447L probably benign Het
Nav3 T C 10: 109,852,934 (GRCm38) E494G possibly damaging Het
Nol10 T G 12: 17,402,173 (GRCm38) V376G probably damaging Het
Nup205 T A 6: 35,214,676 (GRCm38) I1032N probably damaging Het
Oog2 A G 4: 144,195,281 (GRCm38) K254E probably benign Het
Or10ac1 A G 6: 42,538,728 (GRCm38) F98S possibly damaging Het
Or52z12 A T 7: 103,584,381 (GRCm38) I120L possibly damaging Het
Or5b98 A G 19: 12,954,447 (GRCm38) N286S probably damaging Het
Or5d41 A T 2: 88,225,022 (GRCm38) Y3* probably null Het
Or5g25 T A 2: 85,647,424 (GRCm38) D299V possibly damaging Het
Or5g27 A G 2: 85,579,296 (GRCm38) D19G probably benign Het
Or6b1 T G 6: 42,838,746 (GRCm38) Y288* probably null Het
Or6c6 A T 10: 129,350,557 (GRCm38) probably benign Het
Or8h10 G A 2: 86,978,157 (GRCm38) T213I probably benign Het
Osbpl11 T A 16: 33,236,279 (GRCm38) D694E probably benign Het
Pcm1 T A 8: 41,293,510 (GRCm38) Y1210N probably benign Het
Pdxk T C 10: 78,440,863 (GRCm38) M293V probably benign Het
Plcb3 T C 19: 6,962,867 (GRCm38) I451V probably benign Het
Plekhm2 A G 4: 141,634,376 (GRCm38) F272S probably damaging Het
Pramel32 C A 4: 88,627,965 (GRCm38) R380L probably benign Het
Ptgdr A T 14: 44,858,232 (GRCm38) probably null Het
Ptprf C T 4: 118,226,523 (GRCm38) V788I probably benign Het
Ralbp1 C T 17: 65,854,148 (GRCm38) V467I probably benign Het
Ralgds A C 2: 28,543,655 (GRCm38) Q229P possibly damaging Het
Recql T C 6: 142,374,884 (GRCm38) D146G probably damaging Het
Reln T C 5: 22,051,367 (GRCm38) N493S probably damaging Het
Rfxank C T 8: 70,135,286 (GRCm38) probably null Het
Scn5a A T 9: 119,486,530 (GRCm38) M1704K probably damaging Het
Slc7a7 G T 14: 54,374,268 (GRCm38) A316E possibly damaging Het
Slco1a6 A T 6: 142,091,068 (GRCm38) C538S probably benign Het
Stard6 T C 18: 70,498,647 (GRCm38) probably null Het
Strip2 T A 6: 29,927,613 (GRCm38) M219K possibly damaging Het
Tcam1 T C 11: 106,284,085 (GRCm38) V122A probably damaging Het
Tha1 A G 11: 117,869,690 (GRCm38) V236A possibly damaging Het
Tmem201 A T 4: 149,731,097 (GRCm38) I132N possibly damaging Het
Tnc T C 4: 64,020,657 (GRCm38) probably benign Het
Vmn1r42 T C 6: 89,845,513 (GRCm38) T25A probably benign Het
Vmn2r94 T A 17: 18,244,503 (GRCm38) probably null Het
Wdfy4 A C 14: 33,068,906 (GRCm38) V2188G Het
Zfp623 T C 15: 75,947,398 (GRCm38) S68P probably damaging Het
Zfp950 A T 19: 61,119,155 (GRCm38) C497S probably damaging Het
Zkscan2 C T 7: 123,480,104 (GRCm38) E877K probably damaging Het
Zp3r C A 1: 130,577,053 (GRCm38) V536L probably damaging Het
Other mutations in Jup
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Jup APN 11 100,386,249 (GRCm38) missense probably benign
IGL01797:Jup APN 11 100,381,672 (GRCm38) splice site probably benign
IGL01926:Jup APN 11 100,383,586 (GRCm38) missense probably benign 0.00
IGL02030:Jup APN 11 100,376,991 (GRCm38) missense probably damaging 0.96
IGL02073:Jup APN 11 100,383,389 (GRCm38) splice site probably benign
IGL02218:Jup APN 11 100,381,839 (GRCm38) missense probably damaging 1.00
IGL02450:Jup APN 11 100,378,357 (GRCm38) missense probably damaging 1.00
IGL02955:Jup APN 11 100,376,739 (GRCm38) missense probably benign 0.31
IGL02976:Jup APN 11 100,378,366 (GRCm38) missense probably benign 0.40
IGL03023:Jup APN 11 100,380,692 (GRCm38) splice site probably benign
Jove UTSW 11 100,386,287 (GRCm38) missense probably damaging 1.00
IGL02802:Jup UTSW 11 100,378,378 (GRCm38) missense probably benign
PIT4403001:Jup UTSW 11 100,378,087 (GRCm38) critical splice donor site probably null
R0426:Jup UTSW 11 100,372,401 (GRCm38) missense probably benign 0.02
R0626:Jup UTSW 11 100,376,763 (GRCm38) missense probably benign
R1330:Jup UTSW 11 100,372,676 (GRCm38) missense probably benign 0.02
R1437:Jup UTSW 11 100,383,576 (GRCm38) missense probably benign 0.06
R1448:Jup UTSW 11 100,383,200 (GRCm38) missense probably damaging 1.00
R1473:Jup UTSW 11 100,379,601 (GRCm38) missense possibly damaging 0.79
R1686:Jup UTSW 11 100,372,434 (GRCm38) missense probably damaging 0.96
R1824:Jup UTSW 11 100,374,137 (GRCm38) nonsense probably null
R1875:Jup UTSW 11 100,372,294 (GRCm38) splice site probably null
R2017:Jup UTSW 11 100,386,341 (GRCm38) missense probably benign 0.01
R2989:Jup UTSW 11 100,376,841 (GRCm38) missense possibly damaging 0.92
R3881:Jup UTSW 11 100,378,381 (GRCm38) missense probably benign
R3882:Jup UTSW 11 100,378,381 (GRCm38) missense probably benign
R4176:Jup UTSW 11 100,372,461 (GRCm38) missense probably benign 0.03
R4612:Jup UTSW 11 100,381,834 (GRCm38) missense probably damaging 0.98
R4808:Jup UTSW 11 100,378,192 (GRCm38) missense probably damaging 0.99
R4854:Jup UTSW 11 100,383,041 (GRCm38) missense possibly damaging 0.73
R4995:Jup UTSW 11 100,379,541 (GRCm38) nonsense probably null
R5133:Jup UTSW 11 100,383,115 (GRCm38) missense probably benign 0.02
R5408:Jup UTSW 11 100,376,781 (GRCm38) missense probably damaging 1.00
R5641:Jup UTSW 11 100,376,806 (GRCm38) missense possibly damaging 0.62
R5991:Jup UTSW 11 100,379,569 (GRCm38) missense possibly damaging 0.59
R6431:Jup UTSW 11 100,374,341 (GRCm38) missense probably benign 0.01
R6805:Jup UTSW 11 100,383,458 (GRCm38) missense probably benign 0.17
R7022:Jup UTSW 11 100,379,553 (GRCm38) missense probably damaging 1.00
R7203:Jup UTSW 11 100,381,734 (GRCm38) missense probably damaging 1.00
R7707:Jup UTSW 11 100,383,052 (GRCm38) missense possibly damaging 0.90
R8017:Jup UTSW 11 100,374,197 (GRCm38) missense probably benign 0.34
R8019:Jup UTSW 11 100,374,197 (GRCm38) missense probably benign 0.34
R8074:Jup UTSW 11 100,386,287 (GRCm38) missense probably damaging 1.00
R8181:Jup UTSW 11 100,376,925 (GRCm38) missense probably damaging 1.00
R8326:Jup UTSW 11 100,381,745 (GRCm38) missense probably benign 0.33
R8969:Jup UTSW 11 100,379,565 (GRCm38) missense probably damaging 1.00
R8970:Jup UTSW 11 100,379,565 (GRCm38) missense probably damaging 1.00
R8971:Jup UTSW 11 100,379,565 (GRCm38) missense probably damaging 1.00
R9139:Jup UTSW 11 100,379,565 (GRCm38) missense probably damaging 1.00
R9140:Jup UTSW 11 100,379,565 (GRCm38) missense probably damaging 1.00
R9145:Jup UTSW 11 100,378,298 (GRCm38) missense probably benign 0.01
R9168:Jup UTSW 11 100,383,393 (GRCm38) critical splice donor site probably null
R9370:Jup UTSW 11 100,379,565 (GRCm38) missense probably damaging 1.00
R9372:Jup UTSW 11 100,379,565 (GRCm38) missense probably damaging 1.00
R9373:Jup UTSW 11 100,379,565 (GRCm38) missense probably damaging 1.00
R9381:Jup UTSW 11 100,379,565 (GRCm38) missense probably damaging 1.00
R9506:Jup UTSW 11 100,376,878 (GRCm38) missense probably damaging 1.00
R9685:Jup UTSW 11 100,383,411 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATTCCATAGTTGAGGCGCAC -3'
(R):5'- GCTAGATACAAGCAAGCCCTAG -3'

Sequencing Primer
(F):5'- AGAGTTCTGGGCCATCTCAG -3'
(R):5'- AGCAAGCCCTAGCCCTTCG -3'
Posted On 2019-09-13