Incidental Mutation 'IGL02629:Tjp2'
ID 301228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tjp2
Ensembl Gene ENSMUSG00000024812
Gene Name tight junction protein 2
Synonyms ZO-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02629
Quality Score
Status
Chromosome 19
Chromosomal Location 24071869-24202394 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 24099743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099558]
AlphaFold Q9Z0U1
PDB Structure Solution structure of N-terminal PDZ domain from mouse TJP2 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000099558
SMART Domains Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812

DomainStartEndE-ValueType
PDZ 19 97 1.25e-15 SMART
low complexity region 163 178 N/A INTRINSIC
low complexity region 181 202 N/A INTRINSIC
low complexity region 209 226 N/A INTRINSIC
low complexity region 253 276 N/A INTRINSIC
PDZ 297 365 8.73e-15 SMART
low complexity region 377 390 N/A INTRINSIC
PDZ 499 572 1.57e-16 SMART
SH3 587 648 1.07e-2 SMART
GuKc 672 861 3.25e-42 SMART
low complexity region 969 980 N/A INTRINSIC
low complexity region 1037 1049 N/A INTRINSIC
coiled coil region 1063 1090 N/A INTRINSIC
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 zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,445,006 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,190,199 (GRCm39) I34T possibly damaging Het
Acan T A 7: 78,761,727 (GRCm39) I1979N possibly damaging Het
Ankrd27 A G 7: 35,325,121 (GRCm39) D701G probably benign Het
Arhgap31 C T 16: 38,429,526 (GRCm39) G450S probably benign Het
Braf T C 6: 39,665,233 (GRCm39) E45G possibly damaging Het
Btnl6 C T 17: 34,733,442 (GRCm39) V178M probably damaging Het
Capg A T 6: 72,532,737 (GRCm39) Q67L probably benign Het
Carmil3 A G 14: 55,736,525 (GRCm39) N663S probably damaging Het
Casz1 T A 4: 149,028,848 (GRCm39) S1098T probably benign Het
Cd55b A T 1: 130,347,535 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpf A G 1: 189,384,531 (GRCm39) L2583P probably damaging Het
Clec4a1 A C 6: 122,909,106 (GRCm39) probably null Het
Corin T C 5: 72,490,016 (GRCm39) N653S probably damaging Het
Dhx36 T C 3: 62,414,155 (GRCm39) E69G probably benign Het
Dpy19l1 C A 9: 24,350,009 (GRCm39) probably benign Het
Fam184a T C 10: 53,574,907 (GRCm39) N234S possibly damaging Het
Foxg1 A G 12: 49,432,331 (GRCm39) S355G probably benign Het
Fsd1l T C 4: 53,686,417 (GRCm39) S277P probably damaging Het
Hadh T A 3: 131,029,284 (GRCm39) D245V probably damaging Het
Jag2 G A 12: 112,878,134 (GRCm39) probably benign Het
Klhl18 A T 9: 110,259,006 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Mcoln2 A G 3: 145,875,799 (GRCm39) Y89C probably benign Het
Mug1 A T 6: 121,817,024 (GRCm39) Y31F possibly damaging Het
Ndufb5 A G 3: 32,791,348 (GRCm39) T32A probably benign Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Nudt6 A G 3: 37,459,320 (GRCm39) Y222H probably benign Het
Or4x6 A T 2: 89,949,201 (GRCm39) L247* probably null Het
Pla2g4c A T 7: 13,069,302 (GRCm39) R159* probably null Het
Pnpla7 A G 2: 24,940,957 (GRCm39) D1103G probably damaging Het
Pof1b T G X: 111,554,934 (GRCm39) probably benign Het
Prrg2 C T 7: 44,706,166 (GRCm39) probably null Het
Rab3gap1 A G 1: 127,837,600 (GRCm39) T221A probably benign Het
Rfx7 A G 9: 72,526,541 (GRCm39) N1244D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf123 A T 9: 107,947,988 (GRCm39) probably benign Het
Rnf44 T G 13: 54,830,875 (GRCm39) Q207P possibly damaging Het
Serpina3g A G 12: 104,207,437 (GRCm39) D200G probably damaging Het
Slc5a4a T A 10: 75,983,413 (GRCm39) S17T unknown Het
Smc4 G T 3: 68,933,206 (GRCm39) C609F probably damaging Het
Sync T C 4: 129,187,744 (GRCm39) F259L probably damaging Het
Tas2r113 T C 6: 132,870,299 (GRCm39) L109P probably damaging Het
Tmem30a C A 9: 79,683,531 (GRCm39) probably benign Het
Unc80 T C 1: 66,522,476 (GRCm39) V226A possibly damaging Het
Upk2 A T 9: 44,365,436 (GRCm39) L44Q probably damaging Het
Usp42 T C 5: 143,708,909 (GRCm39) Y203C possibly damaging Het
Vmn1r28 A T 6: 58,242,801 (GRCm39) I215F probably benign Het
Zswim2 A G 2: 83,755,553 (GRCm39) V116A possibly damaging Het
Other mutations in Tjp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Tjp2 APN 19 24,116,174 (GRCm39) missense possibly damaging 0.89
IGL01412:Tjp2 APN 19 24,078,139 (GRCm39) missense probably damaging 0.99
IGL01681:Tjp2 APN 19 24,112,213 (GRCm39) critical splice donor site probably null
IGL02044:Tjp2 APN 19 24,098,204 (GRCm39) missense probably damaging 1.00
IGL02212:Tjp2 APN 19 24,116,150 (GRCm39) missense probably damaging 1.00
IGL02819:Tjp2 APN 19 24,091,469 (GRCm39) missense probably damaging 0.98
IGL02931:Tjp2 APN 19 24,073,996 (GRCm39) missense probably benign 0.11
PIT4402001:Tjp2 UTSW 19 24,075,493 (GRCm39) nonsense probably null
R0032:Tjp2 UTSW 19 24,086,059 (GRCm39) missense probably damaging 1.00
R0667:Tjp2 UTSW 19 24,086,113 (GRCm39) missense probably benign 0.36
R0674:Tjp2 UTSW 19 24,108,680 (GRCm39) missense probably benign 0.37
R0749:Tjp2 UTSW 19 24,099,636 (GRCm39) missense possibly damaging 0.67
R1185:Tjp2 UTSW 19 24,108,527 (GRCm39) missense possibly damaging 0.67
R1185:Tjp2 UTSW 19 24,108,527 (GRCm39) missense possibly damaging 0.67
R1185:Tjp2 UTSW 19 24,108,527 (GRCm39) missense possibly damaging 0.67
R1563:Tjp2 UTSW 19 24,110,067 (GRCm39) missense probably damaging 0.99
R1571:Tjp2 UTSW 19 24,078,239 (GRCm39) missense probably damaging 1.00
R1624:Tjp2 UTSW 19 24,108,776 (GRCm39) missense probably benign 0.01
R1658:Tjp2 UTSW 19 24,090,311 (GRCm39) missense probably damaging 0.99
R1851:Tjp2 UTSW 19 24,076,899 (GRCm39) missense possibly damaging 0.67
R1968:Tjp2 UTSW 19 24,088,437 (GRCm39) missense probably damaging 0.99
R2068:Tjp2 UTSW 19 24,099,687 (GRCm39) missense probably benign 0.22
R2273:Tjp2 UTSW 19 24,090,171 (GRCm39) missense probably benign
R2994:Tjp2 UTSW 19 24,090,215 (GRCm39) missense probably damaging 1.00
R3767:Tjp2 UTSW 19 24,078,190 (GRCm39) missense probably benign 0.01
R3770:Tjp2 UTSW 19 24,078,190 (GRCm39) missense probably benign 0.01
R4077:Tjp2 UTSW 19 24,086,182 (GRCm39) missense possibly damaging 0.90
R4079:Tjp2 UTSW 19 24,086,182 (GRCm39) missense possibly damaging 0.90
R4505:Tjp2 UTSW 19 24,086,195 (GRCm39) missense possibly damaging 0.50
R4720:Tjp2 UTSW 19 24,078,169 (GRCm39) missense probably damaging 1.00
R4739:Tjp2 UTSW 19 24,097,475 (GRCm39) splice site probably null
R4745:Tjp2 UTSW 19 24,074,030 (GRCm39) missense possibly damaging 0.56
R4858:Tjp2 UTSW 19 24,099,484 (GRCm39) missense probably damaging 1.00
R5290:Tjp2 UTSW 19 24,108,568 (GRCm39) missense probably benign
R5887:Tjp2 UTSW 19 24,073,963 (GRCm39) missense probably benign
R5988:Tjp2 UTSW 19 24,091,464 (GRCm39) missense probably benign
R6144:Tjp2 UTSW 19 24,097,437 (GRCm39) missense probably damaging 0.99
R6163:Tjp2 UTSW 19 24,103,068 (GRCm39) critical splice donor site probably null
R6183:Tjp2 UTSW 19 24,078,155 (GRCm39) missense probably damaging 0.99
R6242:Tjp2 UTSW 19 24,076,967 (GRCm39) splice site probably null
R6683:Tjp2 UTSW 19 24,098,207 (GRCm39) missense probably damaging 0.99
R6866:Tjp2 UTSW 19 24,079,355 (GRCm39) missense probably damaging 0.99
R7025:Tjp2 UTSW 19 24,110,052 (GRCm39) missense probably benign 0.28
R7153:Tjp2 UTSW 19 24,079,345 (GRCm39) missense probably benign 0.40
R7514:Tjp2 UTSW 19 24,088,886 (GRCm39) missense probably benign 0.03
R8004:Tjp2 UTSW 19 24,091,484 (GRCm39) missense probably damaging 1.00
R8505:Tjp2 UTSW 19 24,088,438 (GRCm39) missense probably null 1.00
R8527:Tjp2 UTSW 19 24,088,937 (GRCm39) missense probably damaging 0.99
R8710:Tjp2 UTSW 19 24,072,796 (GRCm39) missense probably damaging 1.00
R9718:Tjp2 UTSW 19 24,078,207 (GRCm39) missense probably damaging 1.00
X0066:Tjp2 UTSW 19 24,075,391 (GRCm39) missense probably damaging 1.00
Z1176:Tjp2 UTSW 19 24,108,729 (GRCm39) missense probably benign 0.00
Z1177:Tjp2 UTSW 19 24,072,824 (GRCm39) missense possibly damaging 0.74
Posted On 2015-04-16