Incidental Mutation 'R4720:Tjp2'
ID 354423
Institutional Source Beutler Lab
Gene Symbol Tjp2
Ensembl Gene ENSMUSG00000024812
Gene Name tight junction protein 2
Synonyms ZO-2
MMRRC Submission 041958-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4720 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 24071869-24202394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24078169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 908 (D908G)
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 damaging
Transcript: ENSMUST00000099558
AA Change: D908G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812
AA Change: D908G

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: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,018,248 (GRCm39) I1124T probably damaging Het
Acacb A G 5: 114,367,975 (GRCm39) T1658A possibly damaging Het
Acvrl1 C A 15: 101,033,654 (GRCm39) P112Q probably damaging Het
Ankar A T 1: 72,738,170 (GRCm39) I4K possibly damaging Het
Ankfn1 G C 11: 89,332,252 (GRCm39) D431E possibly damaging Het
Apobec4 T C 1: 152,632,425 (GRCm39) V151A possibly damaging Het
Atp10b A G 11: 43,093,949 (GRCm39) S498G probably benign Het
Azin1 A G 15: 38,493,744 (GRCm39) V293A probably benign Het
Ccdc88b T C 19: 6,835,083 (GRCm39) E46G probably damaging Het
Ccdc96 T C 5: 36,642,219 (GRCm39) probably benign Het
Ccnyl1 A G 1: 64,752,290 (GRCm39) D169G probably benign Het
Cdca3 T A 6: 124,809,127 (GRCm39) V89E probably damaging Het
Cdh19 A T 1: 110,823,111 (GRCm39) probably null Het
Chka G A 19: 3,936,375 (GRCm39) V238I probably damaging Het
Cntn3 T C 6: 102,218,983 (GRCm39) K546E possibly damaging Het
Crybg3 A G 16: 59,360,180 (GRCm39) V787A probably damaging Het
Dlgap3 T C 4: 127,089,508 (GRCm39) probably null Het
Dnah8 C T 17: 30,902,608 (GRCm39) L889F probably benign Het
Dnah9 T C 11: 65,967,184 (GRCm39) E1658G probably damaging Het
Dnajc11 A G 4: 152,052,996 (GRCm39) D102G probably damaging Het
Dync1i2 T G 2: 71,064,018 (GRCm39) S121A probably damaging Het
Ece1 G A 4: 137,684,486 (GRCm39) E591K probably damaging Het
Enthd1 G A 15: 80,444,510 (GRCm39) S15L probably damaging Het
Epb41l2 T A 10: 25,347,524 (GRCm39) H372Q probably damaging Het
Errfi1 T A 4: 150,951,204 (GRCm39) Y211N probably damaging Het
Fam193b G A 13: 55,691,250 (GRCm39) T208M probably benign Het
Flacc1 T C 1: 58,717,507 (GRCm39) I135V possibly damaging Het
Fmnl2 C T 2: 52,997,552 (GRCm39) T501M possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm4841 G T 18: 60,403,135 (GRCm39) D319E probably benign Het
Gucd1 A G 10: 75,345,494 (GRCm39) F187S probably damaging Het
Hcar2 GCGGATGCGCAC GC 5: 124,002,752 (GRCm39) probably null Het
Helz2 T C 2: 180,880,210 (GRCm39) D502G probably damaging Het
Hspa2 A G 12: 76,451,639 (GRCm39) E111G possibly damaging Het
Htr2a T A 14: 74,882,499 (GRCm39) S162T probably damaging Het
Ift80 A G 3: 68,869,623 (GRCm39) Y223H possibly damaging Het
Il1rl1 A G 1: 40,485,838 (GRCm39) K330E probably benign Het
Il23r A T 6: 67,400,645 (GRCm39) F562I probably damaging Het
Isx T C 8: 75,600,487 (GRCm39) probably null Het
Jcad G A 18: 4,674,055 (GRCm39) V606I probably benign Het
Kcnn2 A T 18: 45,816,187 (GRCm39) T333S possibly damaging Het
Kcnq5 C T 1: 21,473,274 (GRCm39) A630T probably damaging Het
Kif2c T C 4: 117,028,946 (GRCm39) M188V probably benign Het
Kntc1 T C 5: 123,903,086 (GRCm39) V321A possibly damaging Het
Krtap4-8 A T 11: 99,671,271 (GRCm39) probably benign Het
Lcor G C 19: 41,574,334 (GRCm39) A1030P probably benign Het
Lgals3bp A C 11: 118,289,295 (GRCm39) L52R probably damaging Het
Lipk C A 19: 33,999,099 (GRCm39) H126Q probably damaging Het
Lpgat1 T C 1: 191,495,779 (GRCm39) Y323H probably damaging Het
Lrp2 T G 2: 69,311,517 (GRCm39) N2654H probably damaging Het
Lsm14b C T 2: 179,669,774 (GRCm39) Q6* probably null Het
Lysmd3 C T 13: 81,817,584 (GRCm39) A187V possibly damaging Het
Map2k5 A G 9: 63,201,001 (GRCm39) S211P probably damaging Het
Mlph A T 1: 90,869,419 (GRCm39) I474F probably damaging Het
Mpped2 T C 2: 106,614,091 (GRCm39) S142P probably damaging Het
Nemf A C 12: 69,371,062 (GRCm39) M678R probably benign Het
Nfe2l1 A T 11: 96,718,515 (GRCm39) Y7N probably damaging Het
Nfkbie T G 17: 45,867,232 (GRCm39) D122E probably benign Het
Noc3l C A 19: 38,778,066 (GRCm39) A783S probably benign Het
Nol8 T C 13: 49,816,229 (GRCm39) V761A probably damaging Het
Nvl A G 1: 180,929,152 (GRCm39) L743P probably damaging Het
Or1j1 T A 2: 36,702,484 (GRCm39) I207F probably benign Het
Plcb1 A G 2: 135,093,667 (GRCm39) K160R possibly damaging Het
Plekhg3 G T 12: 76,625,096 (GRCm39) G1313C possibly damaging Het
Plekhh1 GTCAAA G 12: 79,122,194 (GRCm39) probably null Het
Popdc3 G A 10: 45,191,002 (GRCm39) V38I probably benign Het
Prdx3 A T 19: 60,858,551 (GRCm39) V114D possibly damaging Het
Prkdc T A 16: 15,485,579 (GRCm39) S469T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Rims1 A G 1: 22,497,731 (GRCm39) Y808H probably damaging Het
Rsbn1 C A 3: 103,836,336 (GRCm39) T458N possibly damaging Het
Serpina3b A G 12: 104,096,889 (GRCm39) S57G possibly damaging Het
Skor2 G T 18: 76,948,878 (GRCm39) probably null Het
Slc22a4 A T 11: 53,879,719 (GRCm39) Y447N probably damaging Het
Slco1a7 C A 6: 141,668,948 (GRCm39) A495S probably damaging Het
Stx19 G T 16: 62,642,682 (GRCm39) R166L probably damaging Het
Svep1 T C 4: 58,205,869 (GRCm39) T170A possibly damaging Het
Sycp2 T G 2: 178,016,225 (GRCm39) S746R probably benign Het
Tchh G T 3: 93,355,189 (GRCm39) R1543L unknown Het
Ttc8 C A 12: 98,946,068 (GRCm39) A452E possibly damaging Het
Unc5a T A 13: 55,151,696 (GRCm39) W709R probably null Het
Unc80 T A 1: 66,549,951 (GRCm39) S736R possibly damaging Het
Vmn2r100 C A 17: 19,742,788 (GRCm39) H387Q probably benign Het
Vmn2r39 C T 7: 9,026,469 (GRCm39) probably null Het
Vmn2r88 T A 14: 51,650,702 (GRCm39) D138E probably benign Het
Vwce T C 19: 10,625,831 (GRCm39) F448L possibly damaging Het
Wdr75 C T 1: 45,861,645 (GRCm39) S695F probably benign Het
Zfand4 T C 6: 116,265,122 (GRCm39) probably null Het
Zfp511 T A 7: 139,617,424 (GRCm39) probably null Het
Zfyve9 T C 4: 108,501,565 (GRCm39) K584E 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
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
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'- ATGTCAAGGTTCCCAACACTTG -3'

Sequencing Primer
(F):5'- GGATACTTTCCACAGCGCC -3'
(R):5'- GCTCAGCCCTTGGGAGTTTTC -3'
Posted On 2015-10-21