Incidental Mutation 'R6183:Tjp2'
ID 487651
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 # R6183 (G1)
Quality Score 158.009
Status Not validated
Chromosome 19
Chromosomal Location 24071869-24202394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24078155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 913 (A913T)
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: A913T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812
AA Change: A913T

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: 97.9%
  • 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,968,718 (GRCm39) D352E probably benign Het
Adgrb3 T A 1: 25,133,451 (GRCm39) I972L probably damaging Het
Alg3 T C 16: 20,429,391 (GRCm39) Y33C probably benign Het
Atp1a3 C T 7: 24,681,177 (GRCm39) G816D probably damaging Het
Ccdc121 T C 5: 31,645,320 (GRCm39) Y358H probably damaging Het
Ces1g C T 8: 94,057,867 (GRCm39) V145M possibly damaging Het
Clip1 A G 5: 123,780,667 (GRCm39) S339P probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,182,875 (GRCm39) probably benign Het
Dnah12 T A 14: 26,583,726 (GRCm39) L3207Q probably damaging Het
Efcab5 T C 11: 77,028,084 (GRCm39) T416A probably benign Het
Ephb1 A T 9: 102,072,524 (GRCm39) I85N probably damaging Het
Etnppl T C 3: 130,413,966 (GRCm39) C22R probably damaging Het
F830016B08Rik A G 18: 60,432,949 (GRCm39) T11A probably benign Het
Gm5458 C A 14: 19,649,712 (GRCm39) V171L probably damaging Het
Helb G T 10: 119,948,903 (GRCm39) probably null Het
Hnrnpll A G 17: 80,357,305 (GRCm39) V237A possibly damaging Het
Hps3 T C 3: 20,063,032 (GRCm39) T712A probably benign Het
Ibsp A G 5: 104,453,896 (GRCm39) E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,410,056 (GRCm39) A111V probably damaging Het
Igkv4-63 G T 6: 69,355,108 (GRCm39) Q58K probably damaging Het
Iqcg T C 16: 32,851,293 (GRCm39) Y226C probably damaging Het
Khdc1a A T 1: 21,420,332 (GRCm39) D30V possibly damaging Het
Krtap5-5 C A 7: 141,783,524 (GRCm39) C42F unknown Het
Lmod3 T C 6: 97,229,514 (GRCm39) N7D probably damaging Het
Lvrn A G 18: 46,983,752 (GRCm39) N165S probably benign Het
Ms4a4c A G 19: 11,403,593 (GRCm39) T192A possibly damaging Het
Ncald A T 15: 37,397,476 (GRCm39) V68D probably damaging Het
Or4e5 T A 14: 52,728,188 (GRCm39) T78S probably benign Het
Pcdhgb7 A T 18: 37,885,315 (GRCm39) I162F probably damaging Het
Prokr1 T C 6: 87,565,834 (GRCm39) T4A possibly damaging Het
Qrich2 T A 11: 116,348,955 (GRCm39) probably benign Het
Rgl1 C T 1: 152,462,321 (GRCm39) E60K possibly damaging Het
Rtn1 A T 12: 72,455,265 (GRCm39) W21R probably benign Het
Scart2 A G 7: 139,875,947 (GRCm39) T404A possibly damaging Het
Spast A G 17: 74,680,353 (GRCm39) I438M probably damaging Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tas1r1 A G 4: 152,116,998 (GRCm39) I212T probably damaging Het
Tbc1d1 A G 5: 64,432,768 (GRCm39) N439D probably damaging Het
Tnfrsf26 A G 7: 143,165,494 (GRCm39) L47P probably damaging Het
Unc13a A T 8: 72,097,310 (GRCm39) S1195T probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn1r54 T A 6: 90,246,272 (GRCm39) M62K possibly damaging Het
Vmn2r125 A T 4: 156,702,364 (GRCm39) D50V probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Vmn2r95 T A 17: 18,664,192 (GRCm39) N470K probably damaging Het
Zc3h7a A T 16: 10,965,234 (GRCm39) I633N 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
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
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'- CTGGGCTCCAATCCTTTGAG -3'
(R):5'- AGCACATGTCAAGGTTCCCAAC -3'

Sequencing Primer
(F):5'- GGATACTTTCCACAGCGCC -3'
(R):5'- ATGTCAAGGTTCCCAACACTTG -3'
Posted On 2017-10-10