Incidental Mutation 'R6163:Tjp2'
ID 490013
Institutional Source Beutler Lab
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 # R6163 (G1)
Quality Score 152.008
Status Not validated
Chromosome 19
Chromosomal Location 24071869-24202394 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 24103068 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 null
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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 144,982,098 (GRCm39) Q228* probably null Het
Asic5 A G 3: 81,913,833 (GRCm39) N169S probably damaging Het
Atad2b T A 12: 5,004,593 (GRCm39) L374H probably benign Het
Birc2 G A 9: 7,819,036 (GRCm39) T544I probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Cc2d2b C T 19: 40,744,950 (GRCm39) T23I probably benign Het
Ccdc137 G T 11: 120,350,927 (GRCm39) R108L possibly damaging Het
Cenpe T C 3: 134,974,764 (GRCm39) I2308T probably damaging Het
Clec2m C T 6: 129,303,710 (GRCm39) R85H probably benign Het
Cpt1b T C 15: 89,308,620 (GRCm39) T103A probably benign Het
Cpvl C A 6: 53,850,503 (GRCm39) V445F probably damaging Het
Cttnbp2 A G 6: 18,434,950 (GRCm39) S303P possibly damaging Het
Cyp17a1 T A 19: 46,657,761 (GRCm39) I264F possibly damaging Het
Cyp51 T A 5: 4,150,199 (GRCm39) I175F probably damaging Het
Dennd4c C T 4: 86,723,828 (GRCm39) P695S possibly damaging Het
Dlgap2 A T 8: 14,896,641 (GRCm39) Q1039L probably damaging Het
Dnah14 T C 1: 181,493,926 (GRCm39) L1694P probably benign Het
Dnah2 G A 11: 69,411,729 (GRCm39) Q298* probably null Het
Dsg2 G T 18: 20,731,726 (GRCm39) probably null Het
Esr2 A C 12: 76,168,643 (GRCm39) V522G probably damaging Het
Fmo9 T A 1: 166,494,962 (GRCm39) H262L probably benign Het
Glb1l T A 1: 75,178,051 (GRCm39) M373L probably benign Het
Gls A G 1: 52,254,735 (GRCm39) S247P probably benign Het
Gm37240 T A 3: 84,423,092 (GRCm39) E213D probably damaging Het
Gmip T A 8: 70,270,022 (GRCm39) V675E probably benign Het
Grb10 C A 11: 11,893,932 (GRCm39) E330* probably null Het
H2ac13 A T 13: 21,900,859 (GRCm39) N90Y probably damaging Het
Hivep2 A G 10: 14,005,736 (GRCm39) K778R probably damaging Het
Ighv1-26 T C 12: 114,752,416 (GRCm39) S4G probably benign Het
Igkv3-3 T A 6: 70,664,257 (GRCm39) V33E possibly damaging Het
Itga2 C A 13: 115,002,726 (GRCm39) G588V probably damaging Het
Itpr1 C T 6: 108,365,245 (GRCm39) H58Y probably damaging Het
Jmjd1c T A 10: 67,083,827 (GRCm39) D2365E possibly damaging Het
Limk1 T C 5: 134,686,809 (GRCm39) Y518C probably damaging Het
Marchf6 G C 15: 31,465,497 (GRCm39) H802Q probably benign Het
Mark2 A G 19: 7,268,126 (GRCm39) S26P probably benign Het
Mdn1 T A 4: 32,716,040 (GRCm39) L2074Q probably damaging Het
Mrpl37 T C 4: 106,921,793 (GRCm39) E174G possibly damaging Het
Mtcl1 T C 17: 66,686,326 (GRCm39) H860R probably benign Het
Neurod1 A G 2: 79,284,505 (GRCm39) F293L probably benign Het
Nwd1 C T 8: 73,388,814 (GRCm39) R81W probably damaging Het
Nwd2 C A 5: 63,963,131 (GRCm39) A905E probably benign Het
Or14a260 A T 7: 85,985,592 (GRCm39) I4N possibly damaging Het
Or1x6 T A 11: 50,939,595 (GRCm39) Y220* probably null Het
Or5b12b A C 19: 12,861,472 (GRCm39) T76P probably damaging Het
Or7e169 A G 9: 19,757,024 (GRCm39) I297T probably benign Het
Otop1 C A 5: 38,445,234 (GRCm39) probably null Het
Otp A G 13: 95,012,288 (GRCm39) H4R probably damaging Het
P4htm A C 9: 108,459,150 (GRCm39) Y261D probably damaging Het
Pcsk5 A T 19: 17,450,405 (GRCm39) C1148S probably damaging Het
Plekhg1 A T 10: 3,914,369 (GRCm39) R1419W probably damaging Het
Pramel20 A G 4: 143,298,605 (GRCm39) K183E probably damaging Het
Prkd3 C A 17: 79,273,784 (GRCm39) D491Y possibly damaging Het
Prr11 A C 11: 86,994,454 (GRCm39) L64R possibly damaging Het
Pygo1 G T 9: 72,851,980 (GRCm39) A56S probably damaging Het
Rexo5 A G 7: 119,404,470 (GRCm39) T189A probably damaging Het
Rnf213 A T 11: 119,349,254 (GRCm39) H3784L possibly damaging Het
Rps6ka5 T G 12: 100,562,179 (GRCm39) probably null Het
Slco2b1 T A 7: 99,338,106 (GRCm39) I93F probably damaging Het
Slfn8 T C 11: 82,894,690 (GRCm39) *408W probably null Het
Sptbn1 C A 11: 30,109,443 (GRCm39) E51* probably null Het
Ssc5d T A 7: 4,930,253 (GRCm39) H111Q probably damaging Het
Sult1c2 T C 17: 54,280,981 (GRCm39) N41D probably benign Het
Taar8c G A 10: 23,977,116 (GRCm39) T232I probably benign Het
Tdo2 T C 3: 81,882,710 (GRCm39) E2G possibly damaging Het
Tff2 T C 17: 31,363,152 (GRCm39) E24G probably benign Het
Tnfrsf1b A T 4: 144,946,477 (GRCm39) D311E probably benign Het
Usp15 G T 10: 123,004,210 (GRCm39) N181K probably damaging Het
Vmn1r175 T G 7: 23,508,591 (GRCm39) E12A possibly damaging Het
Vmn1r47 T C 6: 89,999,773 (GRCm39) S302P probably damaging Het
Vmn2r58 A G 7: 41,486,825 (GRCm39) M690T probably benign Het
Wee1 T A 7: 109,734,858 (GRCm39) H465Q probably damaging Het
Zfr C T 15: 12,146,331 (GRCm39) A294V unknown 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
IGL02629:Tjp2 APN 19 24,099,743 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGTACAGACCCTAAGGCTTGC -3'
(R):5'- ACATCTGCATAGCCTCTGCC -3'

Sequencing Primer
(F):5'- AGTACAGACCCTAAGGCTTGCTTTTC -3'
(R):5'- ATAGCCTCTGCCTAGCTAACATG -3'
Posted On 2017-10-10