Incidental Mutation 'IGL02819:Tjp2'
ID360901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tjp2
Ensembl Gene ENSMUSG00000024812
Gene Nametight junction protein 2
SynonymsZO-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02819
Quality Score
Status
Chromosome19
Chromosomal Location24094523-24225026 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24114105 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 564 (V564A)
Ref Sequence ENSEMBL: ENSMUSP00000097154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099558]
PDB Structure Solution structure of N-terminal PDZ domain from mouse TJP2 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000099558
AA Change: V564A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812
AA Change: V564A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,564,220 probably benign Het
Abcb8 T A 5: 24,406,424 N470K probably benign Het
Adamtsl3 A T 7: 82,574,121 N1037Y probably damaging Het
Adcy3 T C 12: 4,206,986 probably benign Het
Ankrd35 A G 3: 96,690,208 D983G possibly damaging Het
Asf1a A G 10: 53,607,824 T118A probably benign Het
Atp2a3 T C 11: 72,977,207 Y389H probably damaging Het
Atp5b T C 10: 128,083,952 I63T probably damaging Het
C2cd5 A G 6: 143,083,220 Y98H probably benign Het
Caprin2 A G 6: 148,848,258 V518A probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Clcn2 C A 16: 20,709,256 E487* probably null Het
Cog6 T A 3: 53,009,545 K184M probably damaging Het
Cpn1 A G 19: 43,968,468 Y286H probably damaging Het
Cpne9 A T 6: 113,300,663 S448C probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Cys1 T C 12: 24,667,170 E132G possibly damaging Het
Depdc7 T C 2: 104,724,726 M280V probably benign Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Golga1 T A 2: 39,039,078 N318Y probably null Het
Hsd3b6 A G 3: 98,810,946 V34A probably benign Het
Krt9 A G 11: 100,191,520 I193T probably damaging Het
Lama4 A T 10: 39,026,569 I180F possibly damaging Het
Lamc1 T C 1: 153,250,661 T458A probably damaging Het
Lin28b A T 10: 45,470,059 M1K probably null Het
Myo16 T C 8: 10,322,600 C100R probably damaging Het
Nt5c3 A T 6: 56,883,733 M279K probably damaging Het
Ppfia2 A G 10: 106,906,394 Y1016C probably damaging Het
Rpl6 A G 5: 121,207,201 probably benign Het
Rpn2 G T 2: 157,316,210 probably null Het
Rspry1 T C 8: 94,654,256 V396A probably benign Het
Serpina3i C T 12: 104,268,502 T364I probably damaging Het
Shprh A G 10: 11,154,765 K242R possibly damaging Het
Slit3 A G 11: 35,171,590 N72S possibly damaging Het
Syt17 G A 7: 118,409,920 probably benign Het
Tatdn3 C A 1: 191,055,344 A114S probably benign Het
Tmem117 T C 15: 94,879,372 probably benign Het
Tnfrsf8 T C 4: 145,269,133 E452G probably damaging Het
Tns1 T C 1: 73,937,248 D1147G probably damaging Het
Traf6 T C 2: 101,684,789 S97P probably damaging Het
Ttc28 A T 5: 111,266,583 E1321D probably benign Het
Other mutations in Tjp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Tjp2 APN 19 24138810 missense possibly damaging 0.89
IGL01412:Tjp2 APN 19 24100775 missense probably damaging 0.99
IGL01681:Tjp2 APN 19 24134849 critical splice donor site probably null
IGL02044:Tjp2 APN 19 24120840 missense probably damaging 1.00
IGL02212:Tjp2 APN 19 24138786 missense probably damaging 1.00
IGL02629:Tjp2 APN 19 24122379 splice site probably benign
IGL02931:Tjp2 APN 19 24096632 missense probably benign 0.11
PIT4402001:Tjp2 UTSW 19 24098129 nonsense probably null
R0032:Tjp2 UTSW 19 24108695 missense probably damaging 1.00
R0667:Tjp2 UTSW 19 24108749 missense probably benign 0.36
R0674:Tjp2 UTSW 19 24131316 missense probably benign 0.37
R0749:Tjp2 UTSW 19 24122272 missense possibly damaging 0.67
R1185:Tjp2 UTSW 19 24131163 missense possibly damaging 0.67
R1185:Tjp2 UTSW 19 24131163 missense possibly damaging 0.67
R1185:Tjp2 UTSW 19 24131163 missense possibly damaging 0.67
R1563:Tjp2 UTSW 19 24132703 missense probably damaging 0.99
R1571:Tjp2 UTSW 19 24100875 missense probably damaging 1.00
R1624:Tjp2 UTSW 19 24131412 missense probably benign 0.01
R1658:Tjp2 UTSW 19 24112947 missense probably damaging 0.99
R1851:Tjp2 UTSW 19 24099535 missense possibly damaging 0.67
R1968:Tjp2 UTSW 19 24111073 missense probably damaging 0.99
R2068:Tjp2 UTSW 19 24122323 missense probably benign 0.22
R2273:Tjp2 UTSW 19 24112807 missense probably benign
R2994:Tjp2 UTSW 19 24112851 missense probably damaging 1.00
R3767:Tjp2 UTSW 19 24100826 missense probably benign 0.01
R3770:Tjp2 UTSW 19 24100826 missense probably benign 0.01
R4077:Tjp2 UTSW 19 24108818 missense possibly damaging 0.90
R4079:Tjp2 UTSW 19 24108818 missense possibly damaging 0.90
R4505:Tjp2 UTSW 19 24108831 missense possibly damaging 0.50
R4720:Tjp2 UTSW 19 24100805 missense probably damaging 1.00
R4739:Tjp2 UTSW 19 24120111 splice site probably null
R4745:Tjp2 UTSW 19 24096666 missense possibly damaging 0.56
R4858:Tjp2 UTSW 19 24122120 missense probably damaging 1.00
R5290:Tjp2 UTSW 19 24131204 missense probably benign
R5887:Tjp2 UTSW 19 24096599 missense probably benign
R5988:Tjp2 UTSW 19 24114100 missense probably benign
R6144:Tjp2 UTSW 19 24120073 missense probably damaging 0.99
R6163:Tjp2 UTSW 19 24125704 critical splice donor site probably null
R6183:Tjp2 UTSW 19 24100791 missense probably damaging 0.99
R6242:Tjp2 UTSW 19 24099603 splice site probably null
R6683:Tjp2 UTSW 19 24120843 missense probably damaging 0.99
R6866:Tjp2 UTSW 19 24101991 missense probably damaging 0.99
R7025:Tjp2 UTSW 19 24132688 missense probably benign 0.28
R7153:Tjp2 UTSW 19 24101981 missense probably benign 0.40
R7514:Tjp2 UTSW 19 24111522 missense probably benign 0.03
R8004:Tjp2 UTSW 19 24114120 missense probably damaging 1.00
R8505:Tjp2 UTSW 19 24111074 missense probably null 1.00
R8527:Tjp2 UTSW 19 24111573 missense probably damaging 0.99
R8710:Tjp2 UTSW 19 24095432 missense probably damaging 1.00
X0066:Tjp2 UTSW 19 24098027 missense probably damaging 1.00
Z1176:Tjp2 UTSW 19 24131365 missense probably benign 0.00
Z1177:Tjp2 UTSW 19 24095460 missense possibly damaging 0.74
Posted On2015-12-18