Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02044:Tjp2'

184875

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02044

Quality Score

Status

Chromosome

Chromosomal Location

24071869-24202394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24098204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 486 (Y486S)

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: Y486S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812
AA Change: Y486S

Domain	Start	End	E-Value	Type
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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	C	7: 139,562,735 (GRCm39)	D772G	possibly damaging	Het
Atp6v0a2	T	A	5: 124,783,954 (GRCm39)	N267K	probably benign	Het
Cx3cl1	T	A	8: 95,507,168 (GRCm39)	V391D	probably damaging	Het
Dscaml1	C	T	9: 45,658,241 (GRCm39)	R1671*	probably null	Het
Dzip3	A	T	16: 48,768,790 (GRCm39)	S443T	possibly damaging	Het
Hrh2	A	T	13: 54,368,965 (GRCm39)	T314S	probably benign	Het
Ifi206	C	T	1: 173,308,557 (GRCm39)	V480M	probably benign	Het
Krt84	A	G	15: 101,436,931 (GRCm39)	Y368H	probably damaging	Het
Lama1	T	C	17: 68,118,485 (GRCm39)	S2566P	probably benign	Het
Lyst	T	A	13: 13,887,431 (GRCm39)	F3087I	probably damaging	Het
Map3k19	A	T	1: 127,751,242 (GRCm39)	L703H	probably damaging	Het
Or8c9	A	G	9: 38,241,461 (GRCm39)	S193G	probably benign	Het
Or8g50	C	T	9: 39,648,270 (GRCm39)	S53L	possibly damaging	Het
Pard6a	A	G	8: 106,429,651 (GRCm39)	D203G	probably damaging	Het
Pate7	T	C	9: 35,687,959 (GRCm39)	K94E	probably benign	Het
Pde8a	T	C	7: 80,967,197 (GRCm39)		probably null	Het
Pdia6	C	A	12: 17,333,227 (GRCm39)	T400K	probably damaging	Het
Pdzd8	A	T	19: 59,303,724 (GRCm39)	V354D	possibly damaging	Het
Sec13	A	G	6: 113,713,381 (GRCm39)	I39T	probably damaging	Het
Smyd3	C	T	1: 178,799,844 (GRCm39)	S365N	probably benign	Het
Sorcs1	A	G	19: 50,276,597 (GRCm39)		probably benign	Het
Tlr13	T	C	X: 105,200,703 (GRCm39)	F147L	probably damaging	Het
Ulk2	T	A	11: 61,672,465 (GRCm39)	N958Y	probably damaging	Het
Unk	T	A	11: 115,940,154 (GRCm39)	M169K	probably damaging	Het
Wdr27	T	C	17: 15,122,031 (GRCm39)	Y625C	possibly damaging	Het

Other mutations in Tjp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2014-05-07