Incidental Mutation 'R3767:Tjp2'
ID 273090
Institutional Source Beutler Lab
Gene Symbol Tjp2
Ensembl Gene ENSMUSG00000024812
Gene Name tight junction protein 2
Synonyms ZO-2
MMRRC Submission 040744-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3767 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 24071869-24202394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24078190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 901 (I901N)
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
AA Change: I901N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812
AA Change: I901N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipoq T A 16: 22,975,938 (GRCm39) V134E possibly damaging Het
Agmat A G 4: 141,483,273 (GRCm39) T236A probably benign Het
Anxa9 T C 3: 95,208,425 (GRCm39) N197S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Axdnd1 G A 1: 156,208,428 (GRCm39) T470M probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cdh3 A T 8: 107,263,606 (GRCm39) probably null Het
Cep85l A T 10: 53,167,906 (GRCm39) I624K probably benign Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Dchs1 A T 7: 105,406,292 (GRCm39) D2313E possibly damaging Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Exo1 C T 1: 175,714,312 (GRCm39) P73L probably damaging Het
Fgfrl1 C A 5: 108,853,242 (GRCm39) H197Q possibly damaging Het
Fsbp G A 4: 11,583,706 (GRCm39) G135D probably damaging Het
Herc3 G A 6: 58,839,973 (GRCm39) R362H probably benign Het
Herc3 T C 6: 58,853,587 (GRCm39) F583L probably benign Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Ighv1-54 A G 12: 115,157,596 (GRCm39) V17A possibly damaging Het
Kcnh5 A G 12: 75,134,350 (GRCm39) Y400H possibly damaging Het
Kcnk16 T A 14: 20,319,230 (GRCm39) M1L possibly damaging Het
Kctd19 T C 8: 106,123,112 (GRCm39) T101A probably benign Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lonp1 T C 17: 56,928,952 (GRCm39) E270G possibly damaging Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Mrc1 A G 2: 14,323,981 (GRCm39) Y1106C probably damaging Het
Mybpc1 G T 10: 88,406,521 (GRCm39) probably null Het
Mypn C A 10: 62,961,486 (GRCm39) L1035F possibly damaging Het
Neurl1a T C 19: 47,228,328 (GRCm39) L58P probably damaging Het
Nlrp4e G T 7: 23,039,988 (GRCm39) L770F probably damaging Het
Npas3 A G 12: 54,115,857 (GRCm39) *895W probably null Het
Nphs2 T C 1: 156,140,608 (GRCm39) I115T probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Or8g22 T A 9: 38,958,707 (GRCm39) H47L unknown Het
Patj A T 4: 98,569,456 (GRCm39) K1128* probably null Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ppp1r13b G T 12: 111,812,851 (GRCm39) R123S probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Pum2 T A 12: 8,769,076 (GRCm39) Y323* probably null Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rreb1 C T 13: 38,113,579 (GRCm39) R313W possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn11a T A 9: 119,613,115 (GRCm39) D825V probably damaging Het
Selenoi A G 5: 30,461,187 (GRCm39) Y141C probably damaging Het
Smcr8 A G 11: 60,670,330 (GRCm39) T493A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ttc23l T A 15: 10,530,781 (GRCm39) Y277F possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wdr1 C T 5: 38,697,882 (GRCm39) G228R probably damaging Het
Xab2 T C 8: 3,669,053 (GRCm39) N31S probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGGCTCCAATCCTTTGAGG -3'
(R):5'- GCACATGTCAAGGTTCCCAAC -3'

Sequencing Primer
(F):5'- GGATACTTTCCACAGCGCC -3'
(R):5'- ATGTCAAGGTTCCCAACACTTG -3'
Posted On 2015-03-25