Incidental Mutation 'IGL02218:Jup'
ID285009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jup
Ensembl Gene ENSMUSG00000001552
Gene Namejunction plakoglobin
SynonymsPG, gamma-catenin, Ctnng, plakoglobin, D930025P04Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02218
Quality Score
Status
Chromosome11
Chromosomal Location100368958-100397763 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 100381839 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 249 (T249I)
Ref Sequence ENSEMBL: ENSMUSP00000103026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001592] [ENSMUST00000107403]
Predicted Effect probably damaging
Transcript: ENSMUST00000001592
AA Change: T249I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: T249I

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: T249I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: T249I

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,612,045 D122G probably benign Het
Abcc8 T C 7: 46,120,436 D885G probably benign Het
Abcf1 T C 17: 35,958,338 K676R probably benign Het
Acsf2 A G 11: 94,601,763 V3A probably benign Het
Apba2 C T 7: 64,695,677 T205I probably benign Het
Bricd5 C A 17: 24,475,322 Y171* probably null Het
Camk2d T G 3: 126,840,153 N441K probably benign Het
Carm1 T C 9: 21,569,512 V94A probably damaging Het
Chd3 C T 11: 69,352,094 probably benign Het
Cipc A G 12: 86,961,928 N166S probably damaging Het
Cln5 A C 14: 103,075,840 probably null Het
Cnbd1 C A 4: 18,887,739 Q258H probably benign Het
Cyp8b1 A G 9: 121,915,117 L383P probably damaging Het
Dok3 A G 13: 55,523,786 L324P probably damaging Het
Eftud2 A T 11: 102,870,213 F102Y possibly damaging Het
Ewsr1 G A 11: 5,070,668 P551S unknown Het
Fam193a G T 5: 34,443,588 V346L possibly damaging Het
Fam46b C T 4: 133,486,151 A111V probably damaging Het
Golim4 A G 3: 75,878,054 S677P probably damaging Het
Gpr149 A G 3: 62,530,531 probably benign Het
Ins1 A T 19: 52,264,683 K20N probably benign Het
Itpr2 A T 6: 146,240,262 probably benign Het
Kctd20 T A 17: 28,957,903 N2K probably benign Het
Kif15 A G 9: 122,995,827 probably benign Het
Klrb1-ps1 T C 6: 129,129,306 noncoding transcript Het
Krtap29-1 T C 11: 99,979,058 probably null Het
Lamb3 A T 1: 193,328,633 probably null Het
Large1 A G 8: 72,912,122 W276R probably damaging Het
Lrp1b T C 2: 41,295,672 N603D probably benign Het
Lrrc37a A G 11: 103,500,381 V1406A probably benign Het
Lrrc74a A G 12: 86,749,048 D265G probably benign Het
Lrrfip2 G A 9: 111,219,725 C250Y probably benign Het
Mbtd1 A G 11: 93,931,803 probably benign Het
Msr1 A G 8: 39,589,316 V406A possibly damaging Het
Mtfr1l C T 4: 134,529,180 D225N probably benign Het
Nckap1l T A 15: 103,483,527 S796R possibly damaging Het
Oaf T A 9: 43,224,922 H119L probably benign Het
Olfr464 A T 11: 87,914,063 M281K probably damaging Het
Pik3c2g A T 6: 139,860,355 H516L probably damaging Het
Pkd1l3 A T 8: 109,660,802 I1793F possibly damaging Het
Ptpra A G 2: 130,552,335 probably benign Het
Slc25a27 C T 17: 43,664,073 probably null Het
Slc2a2 A T 3: 28,698,025 E3D possibly damaging Het
Slc35f5 T C 1: 125,584,555 F14S probably damaging Het
Sspn T C 6: 145,961,386 V105A probably damaging Het
Syvn1 T C 19: 6,050,199 I263T probably damaging Het
Tek A C 4: 94,855,337 D863A probably damaging Het
Tm9sf4 G T 2: 153,204,616 V592F probably benign Het
Tmem259 A G 10: 79,978,317 M354T possibly damaging Het
Ttf2 T C 3: 100,964,093 E84G possibly damaging Het
Ttyh3 T C 5: 140,626,491 E487G probably damaging Het
Ubtf C A 11: 102,306,700 E709* probably null Het
Vmn1r119 T C 7: 21,011,636 R274G probably benign Het
Wdr78 A G 4: 103,096,774 V76A probably damaging Het
Zfp804a A G 2: 82,259,202 Q1125R probably damaging Het
Other mutations in Jup
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Jup APN 11 100386249 missense probably benign
IGL01797:Jup APN 11 100381672 splice site probably benign
IGL01926:Jup APN 11 100383586 missense probably benign 0.00
IGL02030:Jup APN 11 100376991 missense probably damaging 0.96
IGL02073:Jup APN 11 100383389 splice site probably benign
IGL02450:Jup APN 11 100378357 missense probably damaging 1.00
IGL02955:Jup APN 11 100376739 missense probably benign 0.31
IGL02976:Jup APN 11 100378366 missense probably benign 0.40
IGL03023:Jup APN 11 100380692 splice site probably benign
IGL02802:Jup UTSW 11 100378378 missense probably benign
PIT4403001:Jup UTSW 11 100378087 critical splice donor site probably null
R0426:Jup UTSW 11 100372401 missense probably benign 0.02
R0626:Jup UTSW 11 100376763 missense probably benign
R1330:Jup UTSW 11 100372676 missense probably benign 0.02
R1437:Jup UTSW 11 100383576 missense probably benign 0.06
R1448:Jup UTSW 11 100383200 missense probably damaging 1.00
R1473:Jup UTSW 11 100379601 missense possibly damaging 0.79
R1686:Jup UTSW 11 100372434 missense probably damaging 0.96
R1824:Jup UTSW 11 100374137 nonsense probably null
R1875:Jup UTSW 11 100372294 unclassified probably null
R2017:Jup UTSW 11 100386341 missense probably benign 0.01
R2989:Jup UTSW 11 100376841 missense possibly damaging 0.92
R3881:Jup UTSW 11 100378381 missense probably benign
R3882:Jup UTSW 11 100378381 missense probably benign
R4176:Jup UTSW 11 100372461 missense probably benign 0.03
R4612:Jup UTSW 11 100381834 missense probably damaging 0.98
R4808:Jup UTSW 11 100378192 missense probably damaging 0.99
R4854:Jup UTSW 11 100383041 missense possibly damaging 0.73
R4995:Jup UTSW 11 100379541 nonsense probably null
R5133:Jup UTSW 11 100383115 missense probably benign 0.02
R5408:Jup UTSW 11 100376781 missense probably damaging 1.00
R5641:Jup UTSW 11 100376806 missense possibly damaging 0.62
R5991:Jup UTSW 11 100379569 missense possibly damaging 0.59
R6431:Jup UTSW 11 100374341 missense probably benign 0.01
R6805:Jup UTSW 11 100383458 missense probably benign 0.17
R7022:Jup UTSW 11 100379553 missense probably damaging 1.00
R7203:Jup UTSW 11 100381734 missense probably damaging 1.00
R7399:Jup UTSW 11 100378351 missense possibly damaging 0.87
R7707:Jup UTSW 11 100383052 missense possibly damaging 0.90
R8019:Jup UTSW 11 100374197 missense probably benign 0.34
R8074:Jup UTSW 11 100386287 missense probably damaging 1.00
Posted On2015-04-16