Incidental Mutation 'R3793:Ocln'
| ID |
272667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ocln
|
| Ensembl Gene |
ENSMUSG00000021638 |
| Gene Name |
occludin |
| Synonyms |
Ocl |
| MMRRC Submission |
040755-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R3793 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100633015-100689226 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100635402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 496
(R496G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022140]
[ENSMUST00000069756]
[ENSMUST00000159459]
[ENSMUST00000160859]
|
| AlphaFold |
Q61146 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022140
AA Change: R496G
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022140
Gene: ENSMUSG00000021638
AA Change: R496G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
57 |
261 |
6.6e-29 |
PFAM |
|
Pfam:Occludin_ELL
|
419 |
518 |
8.8e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069756
AA Change: R496G
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065284
Gene: ENSMUSG00000021638
AA Change: R496G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
57 |
261 |
3.3e-29 |
PFAM |
|
Pfam:Occludin_ELL
|
419 |
518 |
3.8e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159459
AA Change: R247G
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125642
Gene: ENSMUSG00000021638
AA Change: R247G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
170 |
269 |
6.1e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160859
AA Change: R496G
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124849
Gene: ENSMUSG00000021638
AA Change: R496G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
57 |
261 |
6.6e-29 |
PFAM |
|
Pfam:Occludin_ELL
|
419 |
518 |
8.8e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous null mice display gastritis, loss of gastric parietal and chief cells, gastric mucus cell hyperplasia, reduced gastric acid secretion, growth retardation, male infertility, seminiferous tubule atrophy, failure to nurse pups, mineral deposits in the brain, and thinning of the compact bone. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,259,889 (GRCm39) |
T35A |
probably benign |
Het |
| Arhgap32 |
T |
A |
9: 32,166,669 (GRCm39) |
S435R |
probably damaging |
Het |
| Asic1 |
A |
T |
15: 99,569,906 (GRCm39) |
K76* |
probably null |
Het |
| B9d1 |
A |
G |
11: 61,398,448 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,619,876 (GRCm39) |
V207A |
possibly damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cnfn |
T |
C |
7: 25,067,805 (GRCm39) |
N45S |
probably benign |
Het |
| Col14a1 |
G |
T |
15: 55,226,909 (GRCm39) |
D220Y |
unknown |
Het |
| Csn1s1 |
T |
A |
5: 87,828,702 (GRCm39) |
Y274* |
probably null |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,600 (GRCm39) |
T140A |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,459,743 (GRCm39) |
|
probably benign |
Het |
| Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,414,925 (GRCm39) |
D1366N |
possibly damaging |
Het |
| Itga4 |
A |
G |
2: 79,109,472 (GRCm39) |
T224A |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,952,588 (GRCm39) |
M844L |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,651,345 (GRCm39) |
S46N |
probably damaging |
Het |
| Lhx1 |
A |
G |
11: 84,412,726 (GRCm39) |
S65P |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,685 (GRCm39) |
S208G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
| Nfrkb |
A |
T |
9: 31,321,228 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
| Nlrp14 |
A |
T |
7: 106,781,481 (GRCm39) |
Q226L |
probably benign |
Het |
| Or2b2b |
T |
C |
13: 21,859,153 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
A |
9: 19,938,359 (GRCm39) |
I292F |
probably damaging |
Het |
| Osgepl1 |
T |
C |
1: 53,359,406 (GRCm39) |
I305T |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,487 (GRCm39) |
N266S |
probably benign |
Het |
| Per1 |
A |
G |
11: 69,000,127 (GRCm39) |
E1273G |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,605,252 (GRCm39) |
Y1542H |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,190,994 (GRCm39) |
F252L |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,407,700 (GRCm39) |
D607E |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,086,916 (GRCm39) |
|
probably null |
Het |
| Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,622,033 (GRCm39) |
Y531C |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,870,087 (GRCm39) |
S61T |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
| Uba2 |
A |
C |
7: 33,845,722 (GRCm39) |
V467G |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,747,525 (GRCm39) |
S263P |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,465 (GRCm39) |
T239A |
probably benign |
Het |
| Wac |
T |
C |
18: 7,920,190 (GRCm39) |
V348A |
possibly damaging |
Het |
| Wdr3 |
A |
T |
3: 100,059,281 (GRCm39) |
M346K |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,578,331 (GRCm39) |
H467L |
probably benign |
Het |
|
| Other mutations in Ocln |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Ocln
|
APN |
13 |
100,671,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02231:Ocln
|
APN |
13 |
100,677,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Ocln
|
UTSW |
13 |
100,657,075 (GRCm39) |
intron |
probably benign |
|
|
R0635:Ocln
|
UTSW |
13 |
100,642,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Ocln
|
UTSW |
13 |
100,647,967 (GRCm39) |
nonsense |
probably null |
|
|
R2047:Ocln
|
UTSW |
13 |
100,671,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2193:Ocln
|
UTSW |
13 |
100,676,412 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2259:Ocln
|
UTSW |
13 |
100,671,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4534:Ocln
|
UTSW |
13 |
100,648,112 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4947:Ocln
|
UTSW |
13 |
100,676,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Ocln
|
UTSW |
13 |
100,675,930 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5061:Ocln
|
UTSW |
13 |
100,676,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Ocln
|
UTSW |
13 |
100,642,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5302:Ocln
|
UTSW |
13 |
100,642,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5916:Ocln
|
UTSW |
13 |
100,642,687 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6257:Ocln
|
UTSW |
13 |
100,676,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6797:Ocln
|
UTSW |
13 |
100,676,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Ocln
|
UTSW |
13 |
100,635,380 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6967:Ocln
|
UTSW |
13 |
100,675,796 (GRCm39) |
nonsense |
probably null |
|
|
R7000:Ocln
|
UTSW |
13 |
100,671,470 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7176:Ocln
|
UTSW |
13 |
100,651,591 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7176:Ocln
|
UTSW |
13 |
100,651,590 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7709:Ocln
|
UTSW |
13 |
100,676,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Ocln
|
UTSW |
13 |
100,676,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Ocln
|
UTSW |
13 |
100,642,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9430:Ocln
|
UTSW |
13 |
100,676,356 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
X0023:Ocln
|
UTSW |
13 |
100,648,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Ocln
|
UTSW |
13 |
100,671,560 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCAAAGTCAGTTTGCCTC -3'
(R):5'- GCATTGGGTTCTGCCATGAG -3'
Sequencing Primer
(F):5'- CCAAAGTCAGTTTGCCTCTGGAG -3'
(R):5'- GACAGGGTTTCTCTGTAAAGACC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation