Mutagenetix > Incidental Mutations

Incidental Mutation 'R0032:Tjp2'

59455

Institutional Source

Beutler Lab

Gene Symbol

Tjp2

Ensembl Gene

ENSMUSG00000024812

Gene Name

tight junction protein 2

Synonyms

ZO-2

MMRRC Submission

038326-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0032 (G1) of strain 731

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24094523-24225026 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24108695 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 821 (L821S)

Ref Sequence

ENSEMBL: ENSMUSP00000097154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099558]

PDB Structure

Solution structure of N-terminal PDZ domain from mouse TJP2 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099558
AA Change: L821S

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

SMART Domains

Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812
AA Change: L821S

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

0.8191

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (89/89)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 107,123,295	T97S	probably benign	Het
Adcy1	T	C	11: 7,144,729	S552P	possibly damaging	Het
Arrb1	T	C	7: 99,582,265	F9L	probably damaging	Het
Auts2	G	C	5: 131,440,093	D571E	probably damaging	Het
C2cd3	T	A	7: 100,444,445		probably benign	Het
Ccbe1	T	G	18: 66,291,652	T35P	possibly damaging	Het
Cct6b	G	T	11: 82,753,643	T202K	possibly damaging	Het
Cd86	A	T	16: 36,620,873	S77R	probably damaging	Het
Cdk5rap3	A	T	11: 96,908,753	L412Q	possibly damaging	Het
Cdsn	G	A	17: 35,555,555	G327D	probably damaging	Het
Cfap54	C	T	10: 92,932,697	R188H	probably benign	Het
Clca3a2	T	A	3: 144,816,733	I176F	probably benign	Het
Cop1	T	C	1: 159,325,036		probably null	Het
Cpne8	T	A	15: 90,569,568		probably benign	Het
Ctsg	T	A	14: 56,101,739	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,568,806	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,535,988		probably benign	Het
Dennd4c	T	C	4: 86,828,150		probably null	Het
Des	A	G	1: 75,362,166	E195G	possibly damaging	Het
Dicer1	A	T	12: 104,704,798	L995*	probably null	Het
Dnah10	A	G	5: 124,800,891	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,877	T146K	probably benign	Het
Dnmbp	A	C	19: 43,902,719	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,685,898	S829F	probably damaging	Het
Enkur	T	C	2: 21,189,304	I153V	probably benign	Het
Epb41l3	G	T	17: 69,210,384		probably null	Het
Erf	T	C	7: 25,245,075	Y277C	possibly damaging	Het
Fstl5	T	A	3: 76,648,435		probably benign	Het
Fuk	G	A	8: 110,892,103	T341M	possibly damaging	Het
Galnt16	T	C	12: 80,592,469	V419A	probably damaging	Het
Gm10226	A	G	17: 21,692,056	D66G	possibly damaging	Het
Gm15821	T	A	17: 34,212,225		probably benign	Het
Grm3	A	G	5: 9,511,452		probably null	Het
Il11ra1	A	G	4: 41,768,187	E366G	probably damaging	Het
Impdh2	A	G	9: 108,561,661	D71G	probably damaging	Het
Ipo11	A	C	13: 106,834,463		probably benign	Het
Ipo8	A	G	6: 148,810,711	C261R	probably damaging	Het
Iqsec3	T	C	6: 121,473,130	D145G	possibly damaging	Het
Itga11	T	C	9: 62,774,095	F998L	probably benign	Het
Junb	T	C	8: 84,977,786	H215R	probably benign	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kcnn3	CGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAG	3: 89,520,665		probably benign	Het
Krt73	T	C	15: 101,794,052	S459G	probably benign	Het
Krt74	T	A	15: 101,761,452		noncoding transcript	Het
Meis3	C	A	7: 16,182,285		probably benign	Het
Mlh3	A	G	12: 85,245,749		probably benign	Het
Mroh2a	GT	GTT	1: 88,256,166		probably null	Het
Naip6	C	T	13: 100,303,237	E341K	probably benign	Het
Nbeal2	G	T	9: 110,637,868		probably benign	Het
Nfx1	T	A	4: 41,015,321	V842E	probably benign	Het
Olfr118	T	A	17: 37,672,487	W155R	probably damaging	Het
Olfr800	T	A	10: 129,660,400	V198D	probably benign	Het
Olfr891	A	G	9: 38,180,608	C72R	probably damaging	Het
Oma1	T	A	4: 103,366,012	S465T	possibly damaging	Het
Opa1	A	T	16: 29,615,069	H574L	probably damaging	Het
Otog	T	A	7: 46,288,213	L1782*	probably null	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Pcsk5	T	C	19: 17,564,815	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,201,432		probably benign	Het
Pilra	T	A	5: 137,831,265	D179V	probably damaging	Het
Piwil1	G	A	5: 128,743,280	S247N	probably benign	Het
Ppp2r1a	G	A	17: 20,945,584		probably benign	Het
Prss58	T	G	6: 40,895,699	T158P	probably benign	Het
Setmar	T	A	6: 108,076,416	C290*	probably null	Het
Slc35e3	T	C	10: 117,744,932	M156V	probably benign	Het
Slc4a5	T	A	6: 83,273,157	I509N	probably damaging	Het
Slit2	G	A	5: 48,256,856	R938Q	probably damaging	Het
Snrpn	A	G	7: 59,985,082	Y168H	probably damaging	Het
Sycn	C	T	7: 28,541,292	A128V	possibly damaging	Het
Synm	C	A	7: 67,733,927	R1329M	possibly damaging	Het
Syt8	T	C	7: 142,439,189	V152A	probably benign	Het
Tcp10a	T	C	17: 7,336,907	M247T	probably benign	Het
Tppp2	G	T	14: 51,919,409	R81L	possibly damaging	Het
Trim34b	A	G	7: 104,336,577	D473G	possibly damaging	Het
Trpc3	A	G	3: 36,644,256	I618T	probably damaging	Het
Trpm5	A	T	7: 143,085,241	D264E	probably damaging	Het
Tuba8	A	T	6: 121,225,904	D392V	probably benign	Het
Vmn1r50	C	A	6: 90,107,800	P176T	probably damaging	Het
Vmn1r76	T	C	7: 11,931,267	I7V	probably benign	Het
Vmn2r26	T	A	6: 124,039,899	W441R	possibly damaging	Het
Vmn2r57	T	C	7: 41,399,733		probably null	Het
Zc3h4	T	A	7: 16,434,640	D891E	unknown	Het
Zfp120	A	T	2: 150,117,592	V270E	possibly damaging	Het
Znhit1	G	C	5: 136,985,047	R8G	possibly 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
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
R4079: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	intron	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	intron	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
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'- AGTCTACCTCGGAAATCTAGCGCC -3'
(R):5'- TGGGAGAATAGACCCCTCAGTGATG -3'

Sequencing Primer
(F):5'- GTGTAACATACAACTGCCATAGGTC -3'
(R):5'- AATAGACCCCTCAGTGATGTCTTTG -3'

Posted On

2013-07-11