Incidental Mutation 'R1185:Tjp2'
| ID |
165272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tjp2
|
| Ensembl Gene |
ENSMUSG00000024812 |
| Gene Name |
tight junction protein 2 |
| Synonyms |
ZO-2 |
| MMRRC Submission |
039257-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1185 (G1)
|
| Quality Score |
128 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
24071869-24202394 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24108527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 195
(L195P)
|
| 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: L195P
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097154
Gene: ENSMUSG00000024812
AA Change: L195P
| 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 |
0.0611 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.3%
- 10x: 93.0%
- 20x: 79.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
| Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
| Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
| Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
| Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
| Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
| Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
| Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
| Rsph10b |
G |
A |
5: 143,903,280 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
| Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
| Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCATGCCGTGACCTAGACTCG -3'
(R):5'- TGAATAGGTGGTCAAGAGACCCCG -3'
Sequencing Primer
(F):5'- TGCGGCTCCGTTCATAG -3'
(R):5'- CAAGAGACCCCGGAAGGTTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation