Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Tjp2'

174932

Institutional Source

Beutler Lab

Gene Symbol

Tjp2

Ensembl Gene

ENSMUSG00000024812

Gene Name

tight junction protein 2

Synonyms

ZO-2

MMRRC Submission

039661-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1624 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

24071869-24202394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24108776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 112 (H112L)

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 benign
Transcript: ENSMUST00000099558
AA Change: H112L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812
AA Change: H112L

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,472,496 (GRCm39)	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,276,031 (GRCm39)	H81L	probably damaging	Het
Acbd4	A	G	11: 102,994,785 (GRCm39)	T48A	probably damaging	Het
Acp3	T	A	9: 104,197,200 (GRCm39)	E146D	probably benign	Het
Acsm1	T	A	7: 119,251,796 (GRCm39)	I307N	probably damaging	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agl	T	C	3: 116,580,895 (GRCm39)	T356A	probably benign	Het
Ago1	A	G	4: 126,357,534 (GRCm39)	I47T	probably damaging	Het
Akr1c6	T	A	13: 4,496,363 (GRCm39)	Y75N	probably benign	Het
Anxa2	T	A	9: 69,386,990 (GRCm39)	S92T	probably benign	Het
Arid4b	T	C	13: 14,358,979 (GRCm39)	S585P	probably damaging	Het
Arl4d	T	C	11: 101,557,842 (GRCm39)	S123P	possibly damaging	Het
Atad2	A	T	15: 57,963,415 (GRCm39)	D1067E	probably damaging	Het
Brap	C	A	5: 121,820,922 (GRCm39)	T403K	possibly damaging	Het
Brwd1	A	T	16: 95,809,344 (GRCm39)	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,171,087 (GRCm39)	T464A	probably benign	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdh11	T	C	8: 103,391,233 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,725,163 (GRCm39)	Y691F	probably benign	Het
Clhc1	A	T	11: 29,519,287 (GRCm39)	I365F	possibly damaging	Het
Col11a1	A	G	3: 113,951,804 (GRCm39)	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375 (GRCm39)	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,795,754 (GRCm39)	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,327,225 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,618,918 (GRCm39)	I1661N	probably damaging	Het
Dpysl4	A	C	7: 138,669,469 (GRCm39)	D49A	probably damaging	Het
Efhb	T	A	17: 53,733,306 (GRCm39)	I522F	probably damaging	Het
Epha4	T	C	1: 77,376,329 (GRCm39)	T517A	probably damaging	Het
Fasn	A	G	11: 120,703,937 (GRCm39)	S1466P	probably damaging	Het
Fgd6	A	T	10: 93,973,298 (GRCm39)	D1253V	probably benign	Het
Fjx1	G	A	2: 102,281,509 (GRCm39)	A142V	probably benign	Het
Foxb1	T	C	9: 69,666,598 (GRCm39)	T311A	probably benign	Het
Fpgs	A	G	2: 32,581,200 (GRCm39)		probably null	Het
Gm10024	A	G	10: 77,547,606 (GRCm39)		probably null	Het
Gnat3	A	T	5: 18,208,841 (GRCm39)	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,362,543 (GRCm39)	F875I	probably benign	Het
Kif13b	A	G	14: 64,976,068 (GRCm39)	E461G	probably damaging	Het
Kif23	A	T	9: 61,832,982 (GRCm39)		probably null	Het
Kntc1	G	A	5: 123,896,540 (GRCm39)	R134Q	possibly damaging	Het
Krt33a	A	T	11: 99,905,072 (GRCm39)	Y145N	probably damaging	Het
Lama5	A	G	2: 179,848,551 (GRCm39)	V313A	probably benign	Het
Lamb1	T	C	12: 31,328,651 (GRCm39)		probably null	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mtor	C	T	4: 148,632,133 (GRCm39)	L2336F	probably damaging	Het
Naglu	T	C	11: 100,967,351 (GRCm39)	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,580,655 (GRCm39)	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,752,184 (GRCm39)	T733I	possibly damaging	Het
Nr3c2	A	G	8: 77,636,573 (GRCm39)	E558G	probably damaging	Het
Nsun4	A	T	4: 115,891,397 (GRCm39)	N327K	probably benign	Het
Or11g27	A	G	14: 50,771,100 (GRCm39)	Y77C	probably damaging	Het
Or1x2	T	C	11: 50,917,952 (GRCm39)	V41A	probably damaging	Het
Or2m13	T	A	16: 19,226,454 (GRCm39)	Y104F	probably benign	Het
Or4f6	T	A	2: 111,838,877 (GRCm39)	Y218F	probably damaging	Het
Or6b13	T	C	7: 139,781,864 (GRCm39)	N273S	probably damaging	Het
Pdia2	T	A	17: 26,415,495 (GRCm39)	I441F	probably damaging	Het
Phyh	T	C	2: 4,930,494 (GRCm39)	S74P	probably benign	Het
Pigo	A	G	4: 43,024,661 (GRCm39)	L146P	probably damaging	Het
Plce1	A	G	19: 38,713,219 (GRCm39)	D1191G	probably damaging	Het
Plrg1	T	C	3: 82,975,301 (GRCm39)		probably benign	Het
Plrg1	G	A	3: 82,977,051 (GRCm39)	R364Q	probably damaging	Het
Polr3b	T	C	10: 84,515,669 (GRCm39)	L614S	probably damaging	Het
Pramel16	A	T	4: 143,676,400 (GRCm39)	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,663,027 (GRCm39)	V193A	probably damaging	Het
Prss16	T	A	13: 22,187,483 (GRCm39)	E47V	probably benign	Het
Ptpru	G	A	4: 131,499,861 (GRCm39)	T1261I	probably damaging	Het
Pycard	A	G	7: 127,591,970 (GRCm39)	S124P	possibly damaging	Het
Riok1	C	A	13: 38,221,487 (GRCm39)	D17E	probably damaging	Het
Scin	T	A	12: 40,177,929 (GRCm39)	Y102F	probably benign	Het
Scmh1	A	G	4: 120,386,425 (GRCm39)	H655R	probably damaging	Het
Scyl2	A	T	10: 89,476,598 (GRCm39)	N842K	probably benign	Het
Sec23b	T	A	2: 144,409,049 (GRCm39)	M211K	probably benign	Het
Serpina3i	A	C	12: 104,234,897 (GRCm39)	*409C	probably null	Het
Sgk2	G	A	2: 162,839,779 (GRCm39)	R129H	probably benign	Het
Slc39a13	A	G	2: 90,898,871 (GRCm39)	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,029,631 (GRCm39)	D73G	probably benign	Het
Spata18	A	C	5: 73,826,888 (GRCm39)	T276P	probably damaging	Het
Srgap1	T	G	10: 121,691,278 (GRCm39)	M319L	probably benign	Het
Stx7	T	A	10: 24,060,903 (GRCm39)	V210E	probably damaging	Het
Tuba8	A	T	6: 121,197,385 (GRCm39)	I16F	probably damaging	Het
Ube3c	G	A	5: 29,851,617 (GRCm39)	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,417,116 (GRCm39)	V14E	probably benign	Het
Vmn2r79	A	T	7: 86,653,247 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,343,018 (GRCm39)	T466A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTCATGCCGTGACCTAGACTCG -3'
(R):5'- ACTTGGAGGGTTGTCAGGGATACAG -3'

Sequencing Primer
(F):5'- CCTCCGTAGTCGGGTTCATAAG -3'
(R):5'- ggtttgttgtaggtttgttttgg -3'

Posted On

2014-04-24