Mutagenetix > Incidental Mutation

Incidental Mutation 'R4077:Tjp2'

316656

Institutional Source

Beutler Lab

Gene Symbol

Tjp2

Ensembl Gene

ENSMUSG00000024812

Gene Name

tight junction protein 2

Synonyms

ZO-2

MMRRC Submission

041622-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24071869-24202394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24086182 bp (GRCm39)

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: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,379 (GRCm39)		probably null	Het
Adam33	T	C	2: 130,905,444 (GRCm39)		probably benign	Het
Adrm1b	A	C	3: 92,336,195 (GRCm39)		probably benign	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Atrn	T	C	2: 130,806,850 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cdnf	A	G	2: 3,522,060 (GRCm39)	Y84C	probably damaging	Het
Chdh	T	C	14: 29,757,297 (GRCm39)	S407P	probably damaging	Het
Cmtr1	C	A	17: 29,904,949 (GRCm39)	T300K	probably damaging	Het
Dennd2d	A	T	3: 106,389,939 (GRCm39)		probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Eif1ad3	A	T	12: 87,843,710 (GRCm39)	D119V	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
Erbb4	T	C	1: 68,079,496 (GRCm39)	T1195A	probably benign	Het
Ermard	T	A	17: 15,273,638 (GRCm39)	S408T	probably benign	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fnbp4	C	T	2: 90,588,821 (GRCm39)	R531*	probably null	Het
Gdf6	A	G	4: 9,844,776 (GRCm39)	Y100C	probably damaging	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Grm8	T	C	6: 27,760,208 (GRCm39)	H374R	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	A	G	11: 120,368,202 (GRCm39)	K277E	probably damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hoxa11	A	T	6: 52,222,504 (GRCm39)	Y66N	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igdcc4	T	A	9: 65,039,047 (GRCm39)	L944Q	probably damaging	Het
Ighv3-1	C	A	12: 113,928,107 (GRCm39)	S84I	probably damaging	Het
Iqgap2	T	C	13: 95,794,375 (GRCm39)	D1199G	probably damaging	Het
Kcnk10	A	T	12: 98,401,205 (GRCm39)	M490K	probably benign	Het
Kirrel1	A	G	3: 86,992,387 (GRCm39)		probably null	Het
Lias	A	T	5: 65,552,768 (GRCm39)	T124S	probably benign	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,808 (GRCm39)	T2206S	unknown	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mis12	A	G	11: 70,916,134 (GRCm39)	T56A	probably benign	Het
Or10ag56	T	A	2: 87,139,208 (GRCm39)	M25K	probably null	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or4k41	A	G	2: 111,279,848 (GRCm39)	D121G	probably damaging	Het
Or5b99	T	C	19: 12,977,235 (GRCm39)	V295A	probably damaging	Het
Otof	A	T	5: 30,576,850 (GRCm39)	L134Q	possibly damaging	Het
Pds5b	T	A	5: 150,717,824 (GRCm39)	V1155E	possibly damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phyhipl	C	T	10: 70,404,903 (GRCm39)	V57I	probably damaging	Het
Plekha5	T	A	6: 140,501,647 (GRCm39)		probably null	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Proser1	A	G	3: 53,385,962 (GRCm39)	T615A	probably damaging	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rassf2	G	A	2: 131,854,522 (GRCm39)	P7S	probably benign	Het
Sart1	A	T	19: 5,432,771 (GRCm39)	L521Q	possibly damaging	Het
Scgb1b21	T	A	7: 33,227,118 (GRCm39)		noncoding transcript	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Secisbp2l	A	G	2: 125,593,785 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,063,522 (GRCm39)	E931G	probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tdrd1	A	G	19: 56,819,505 (GRCm39)	M2V	probably benign	Het
Tram1	A	G	1: 13,636,599 (GRCm39)	V358A	probably benign	Het
Unc13c	C	T	9: 73,643,821 (GRCm39)	W1214*	probably null	Het
Vps13b	T	C	15: 35,455,274 (GRCm39)	C728R	probably damaging	Het
Wwox	A	G	8: 115,166,481 (GRCm39)		probably benign	Het
Zbtb41	G	A	1: 139,357,064 (GRCm39)	V440I	probably benign	Het
Zfp777	T	C	6: 48,002,456 (GRCm39)	S589G	probably benign	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	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
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
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'- AAGCTCCTGATTGCTCATTCTG -3'
(R):5'- GCCATGGAGTTTGAAGGTCAC -3'

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

Posted On

2015-05-15