Incidental Mutation 'R1686:Jup'
ID 189364
Institutional Source Beutler Lab
Gene Symbol Jup
Ensembl Gene ENSMUSG00000001552
Gene Name junction plakoglobin
Synonyms D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng
MMRRC Submission 039719-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1686 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 100259784-100288589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100263260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 705 (Y705C)
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: Y705C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: Y705C

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: Y705C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: Y705C

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: ENSMUST00000151476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152774
Meta Mutation Damage Score 0.2595 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (85/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G A 10: 100,448,722 (GRCm39) V400I probably damaging Het
Abcb1b A G 5: 8,848,782 (GRCm39) N14S probably damaging Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrg3 A G 8: 95,759,997 (GRCm39) N72S probably benign Het
Akain1 T A 17: 69,746,527 (GRCm39) F3I possibly damaging Het
Akr1c21 T C 13: 4,627,452 (GRCm39) L182P probably damaging Het
Arhgap21 A T 2: 20,886,659 (GRCm39) Y12N probably damaging Het
Aup1 A T 6: 83,032,226 (GRCm39) H131L probably damaging Het
Bag6 A G 17: 35,363,928 (GRCm39) T812A possibly damaging Het
Bmp2k A G 5: 97,211,392 (GRCm39) Y520C unknown Het
Calm4 T G 13: 3,888,302 (GRCm39) V136G probably damaging Het
Catsper2 A G 2: 121,230,523 (GRCm39) probably null Het
Cc2d2a A G 5: 43,896,713 (GRCm39) T1537A possibly damaging Het
Cntn2 A T 1: 132,454,049 (GRCm39) V319D possibly damaging Het
Cux1 G A 5: 136,304,235 (GRCm39) R1314* probably null Het
Cxcl12 A G 6: 117,150,508 (GRCm39) I79V probably damaging Het
Cyp2j6 T C 4: 96,412,014 (GRCm39) D418G probably benign Het
Ddx28 G C 8: 106,737,190 (GRCm39) D289E probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a A C 1: 24,068,887 (GRCm39) S448A probably benign Het
Fbxo33 G T 12: 59,251,626 (GRCm39) N30K possibly damaging Het
Fgf12 A C 16: 28,217,093 (GRCm39) Y21D probably damaging Het
Galntl5 C T 5: 25,415,432 (GRCm39) S288L probably benign Het
Gart G T 16: 91,422,237 (GRCm39) A760D probably damaging Het
Gba2 A T 4: 43,573,869 (GRCm39) probably benign Het
Gm10518 C A 1: 179,631,357 (GRCm39) S139* probably null Het
Gm4781 A T 10: 100,232,837 (GRCm39) noncoding transcript Het
Gm9790 A G 3: 85,823,156 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,893,075 (GRCm39) G127R probably damaging Het
Golim4 A T 3: 75,802,443 (GRCm39) V283E probably benign Het
Gprc5a A T 6: 135,055,918 (GRCm39) I122F possibly damaging Het
Gzmc T C 14: 56,471,341 (GRCm39) K67E probably benign Het
Hapln3 C A 7: 78,771,638 (GRCm39) V84L probably benign Het
Hif3a T A 7: 16,778,789 (GRCm39) N377Y possibly damaging Het
Ifi211 G A 1: 173,726,969 (GRCm39) H392Y probably damaging Het
Iqgap3 T A 3: 88,015,663 (GRCm39) probably benign Het
Itga10 T A 3: 96,559,141 (GRCm39) F410Y probably damaging Het
Khsrp C T 17: 57,332,597 (GRCm39) A228T probably benign Het
Lmntd2 C T 7: 140,790,998 (GRCm39) G445D probably damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Magel2 T A 7: 62,027,988 (GRCm39) H297Q possibly damaging Het
Mbd6 T C 10: 127,123,286 (GRCm39) E33G probably damaging Het
Mob3b A G 4: 34,985,910 (GRCm39) probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mymk A T 2: 26,952,346 (GRCm39) W174R probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nipal3 T C 4: 135,174,599 (GRCm39) Y384C possibly damaging Het
Nt5c3b A G 11: 100,330,920 (GRCm39) probably benign Het
Obox6 T A 7: 15,567,750 (GRCm39) L232F probably damaging Het
Obscn A C 11: 58,997,113 (GRCm39) probably benign Het
Or7g12 T C 9: 18,899,839 (GRCm39) L185P probably damaging Het
Phkb A G 8: 86,748,278 (GRCm39) I706V probably benign Het
Plcb2 A G 2: 118,546,168 (GRCm39) probably benign Het
Plek2 T C 12: 78,941,184 (GRCm39) D216G probably damaging Het
Plxnb2 T C 15: 89,046,665 (GRCm39) Y855C probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Psma7 A T 2: 179,679,215 (GRCm39) D184E probably benign Het
Rai14 T A 15: 10,592,282 (GRCm39) L204F probably damaging Het
Ralgapa2 A G 2: 146,199,920 (GRCm39) V1208A probably benign Het
Rapgef6 A G 11: 54,582,458 (GRCm39) R67G possibly damaging Het
Ryr2 C T 13: 11,618,665 (GRCm39) probably benign Het
Satb1 T C 17: 52,047,027 (GRCm39) S763G probably benign Het
Sdk1 A T 5: 142,020,292 (GRCm39) H690L probably benign Het
Sfrp5 A C 19: 42,190,143 (GRCm39) V103G possibly damaging Het
Six6 A G 12: 72,988,451 (GRCm39) E208G probably benign Het
Sspo A T 6: 48,437,334 (GRCm39) H1364L probably benign Het
Stard9 A T 2: 120,529,973 (GRCm39) T2077S probably benign Het
Tacr3 T C 3: 134,535,254 (GRCm39) L74P probably damaging Het
Tep1 T C 14: 51,074,245 (GRCm39) E1880G probably benign Het
Tgfb3 A T 12: 86,116,517 (GRCm39) probably benign Het
Thap7 G A 16: 17,346,576 (GRCm39) P136S probably damaging Het
Thoc2l T A 5: 104,667,789 (GRCm39) Y770* probably null Het
Tmc2 T C 2: 130,098,036 (GRCm39) V717A possibly damaging Het
Usp43 T A 11: 67,778,593 (GRCm39) S446C probably damaging Het
Vwa3a C T 7: 120,379,371 (GRCm39) S492L probably damaging Het
Wdhd1 T A 14: 47,493,672 (GRCm39) N16I probably damaging Het
Wdr95 A T 5: 149,516,566 (GRCm39) D327V probably damaging Het
Zfp128 T G 7: 12,624,563 (GRCm39) Y310* 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
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
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'- AGTGGCAGTGTAACCATAGCAACAG -3'
(R):5'- AACGAACCCTATGCAGACGGTGAG -3'

Sequencing Primer
(F):5'- gggagggagagagagagag -3'
(R):5'- GAGTGTGTGGAGCCCTAAC -3'
Posted On 2014-05-14