Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Tjp2'

316786

Institutional Source

Beutler Lab

Gene Symbol

Tjp2

Ensembl Gene

ENSMUSG00000024812

Gene Name

tight junction protein 2

Synonyms

ZO-2

MMRRC Submission

040976-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24094523-24225026 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24108818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 780 (V780E)

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

possibly damaging
Transcript: ENSMUST00000099558
AA Change: V780E

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812
AA Change: V780E

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

Meta Mutation Damage Score

0.9690

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,353,680		probably null	Het
Ankfy1	C	A	11: 72,690,009		probably benign	Het
Ap4b1	T	A	3: 103,813,378	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,975,292	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,993,501	I88N	probably damaging	Het
Armc9	A	T	1: 86,213,129		probably benign	Het
Bnc1	T	C	7: 81,973,760	E573G	probably damaging	Het
Btaf1	A	G	19: 36,986,479	T817A	probably benign	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,341,669	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 122,647,695		probably null	Het
Ccdc18	C	T	5: 108,158,528	Q270*	probably null	Het
Cdc45	A	T	16: 18,811,360	V19D	probably damaging	Het
Cfap57	C	A	4: 118,598,997	S500I	probably benign	Het
Cnga3	A	T	1: 37,241,865	Q47L	possibly damaging	Het
Corin	T	C	5: 72,503,883	D89G	probably benign	Het
Cox16	A	T	12: 81,474,335		probably benign	Het
Cyp2a4	A	G	7: 26,307,366	N50S	probably benign	Het
Diaph1	T	A	18: 37,853,583	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,148,260	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,669,007		probably null	Het
F13b	T	A	1: 139,501,770	F9I	unknown	Het
Fcer1a	C	T	1: 173,225,353	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,755,612	V318A	probably damaging	Het
Fzd9	A	G	5: 135,249,636	V465A	probably benign	Het
Gm10354	A	T	5: 14,977,649	L71Q	probably damaging	Het
Hbs1l	T	C	10: 21,352,602	V493A	probably damaging	Het
Hgs	T	A	11: 120,483,048	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Kpna7	A	G	5: 145,005,927	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,710,284		probably null	Het
Lrig3	A	C	10: 126,009,787	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,096,037	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,542,849	L152W	probably damaging	Het
Mog	A	G	17: 37,012,410	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,462,270	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,491,057	R531Q	probably damaging	Het
Mx2	A	G	16: 97,556,036	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,079,491	Y323H	probably damaging	Het
Nup188	G	A	2: 30,309,878	D305N	probably damaging	Het
Obscn	A	G	11: 59,038,363	V6145A	probably benign	Het
Olfr1037	A	G	2: 86,085,312	V155A	possibly damaging	Het
Olfr686	A	T	7: 105,204,021	H107Q	probably damaging	Het
Patl1	C	T	19: 11,931,630	A467V	probably damaging	Het
Pdss2	A	T	10: 43,402,522	M342L	probably benign	Het
Phax	A	G	18: 56,575,979	N183S	possibly damaging	Het
Pnck	A	T	X: 73,658,155	V93E	probably damaging	Het
Prol1	A	G	5: 88,328,216	N155S	unknown	Het
Ptprk	G	A	10: 28,263,512	V78I	probably benign	Het
Ptpru	A	T	4: 131,798,710		probably null	Het
Ptprv	A	G	1: 135,110,430		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,757	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,849,977	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,285,029	S693P	probably benign	Het
Scyl2	A	T	10: 89,640,596	M889K	probably benign	Het
Serpina3a	C	T	12: 104,119,675	Q320*	probably null	Het
Slc12a1	A	T	2: 125,200,623	N733I	possibly damaging	Het
Snap47	C	T	11: 59,428,551	V254I	probably benign	Het
St6galnac2	A	T	11: 116,681,898	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tns1	G	A	1: 73,995,308	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,430,080	L3P	possibly damaging	Het
Ung	G	T	5: 114,130,623		probably null	Het
Usp32	T	A	11: 85,039,229	Y574F	probably damaging	Het

Other mutations in Tjp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Tjp2	APN	19	24138810	missense	possibly damaging	0.89
IGL01412:Tjp2	APN	19	24100775	missense	probably damaging	0.99
IGL01681:Tjp2	APN	19	24134849	critical splice donor site	probably null
IGL02044:Tjp2	APN	19	24120840	missense	probably damaging	1.00
IGL02212:Tjp2	APN	19	24138786	missense	probably damaging	1.00
IGL02629:Tjp2	APN	19	24122379	splice site	probably benign
IGL02819:Tjp2	APN	19	24114105	missense	probably damaging	0.98
IGL02931:Tjp2	APN	19	24096632	missense	probably benign	0.11
PIT4402001:Tjp2	UTSW	19	24098129	nonsense	probably null
R0032:Tjp2	UTSW	19	24108695	missense	probably damaging	1.00
R0667:Tjp2	UTSW	19	24108749	missense	probably benign	0.36
R0674:Tjp2	UTSW	19	24131316	missense	probably benign	0.37
R0749:Tjp2	UTSW	19	24122272	missense	possibly damaging	0.67
R1185:Tjp2	UTSW	19	24131163	missense	possibly damaging	0.67
R1185:Tjp2	UTSW	19	24131163	missense	possibly damaging	0.67
R1185:Tjp2	UTSW	19	24131163	missense	possibly damaging	0.67
R1563:Tjp2	UTSW	19	24132703	missense	probably damaging	0.99
R1571:Tjp2	UTSW	19	24100875	missense	probably damaging	1.00
R1624:Tjp2	UTSW	19	24131412	missense	probably benign	0.01
R1658:Tjp2	UTSW	19	24112947	missense	probably damaging	0.99
R1851:Tjp2	UTSW	19	24099535	missense	possibly damaging	0.67
R1968:Tjp2	UTSW	19	24111073	missense	probably damaging	0.99
R2068:Tjp2	UTSW	19	24122323	missense	probably benign	0.22
R2273:Tjp2	UTSW	19	24112807	missense	probably benign
R2994:Tjp2	UTSW	19	24112851	missense	probably damaging	1.00
R3767:Tjp2	UTSW	19	24100826	missense	probably benign	0.01
R3770:Tjp2	UTSW	19	24100826	missense	probably benign	0.01
R4077:Tjp2	UTSW	19	24108818	missense	possibly damaging	0.90
R4505:Tjp2	UTSW	19	24108831	missense	possibly damaging	0.50
R4720:Tjp2	UTSW	19	24100805	missense	probably damaging	1.00
R4739:Tjp2	UTSW	19	24120111	splice site	probably null
R4745:Tjp2	UTSW	19	24096666	missense	possibly damaging	0.56
R4858:Tjp2	UTSW	19	24122120	missense	probably damaging	1.00
R5290:Tjp2	UTSW	19	24131204	missense	probably benign
R5887:Tjp2	UTSW	19	24096599	missense	probably benign
R5988:Tjp2	UTSW	19	24114100	missense	probably benign
R6144:Tjp2	UTSW	19	24120073	missense	probably damaging	0.99
R6163:Tjp2	UTSW	19	24125704	critical splice donor site	probably null
R6183:Tjp2	UTSW	19	24100791	missense	probably damaging	0.99
R6242:Tjp2	UTSW	19	24099603	splice site	probably null
R6683:Tjp2	UTSW	19	24120843	missense	probably damaging	0.99
R6866:Tjp2	UTSW	19	24101991	missense	probably damaging	0.99
R7025:Tjp2	UTSW	19	24132688	missense	probably benign	0.28
R7153:Tjp2	UTSW	19	24101981	missense	probably benign	0.40
R7514:Tjp2	UTSW	19	24111522	missense	probably benign	0.03
R8004:Tjp2	UTSW	19	24114120	missense	probably damaging	1.00
R8505:Tjp2	UTSW	19	24111074	missense	probably null	1.00
R8527:Tjp2	UTSW	19	24111573	missense	probably damaging	0.99
R8710:Tjp2	UTSW	19	24095432	missense	probably damaging	1.00
R9718:Tjp2	UTSW	19	24100843	missense	probably damaging	1.00
X0066:Tjp2	UTSW	19	24098027	missense	probably damaging	1.00
Z1176:Tjp2	UTSW	19	24131365	missense	probably benign	0.00
Z1177:Tjp2	UTSW	19	24095460	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GATAAGCTCCTGATTGCTCATTCTG -3'
(R):5'- AAGGTCACTGCCATCCTTCTG -3'

Sequencing Primer
(F):5'- TCATTCTGAGCGTGGGCC -3'
(R):5'- CCTGGGCTACGTAATGACTTCAAG -3'

Posted On

2015-05-15