Incidental Mutation 'R6960:Ocln'
ID 541720
Institutional Source Beutler Lab
Gene Symbol Ocln
Ensembl Gene ENSMUSG00000021638
Gene Name occludin
Synonyms Ocl
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 100633015-100689226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 100635380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 503 (K503T)
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: K503T

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022140
Gene: ENSMUSG00000021638
AA Change: K503T

DomainStartEndE-ValueType
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: K503T

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065284
Gene: ENSMUSG00000021638
AA Change: K503T

DomainStartEndE-ValueType
Pfam:MARVEL 57 261 3.3e-29 PFAM
Pfam:Occludin_ELL 419 518 3.8e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159459
AA Change: K254T

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125642
Gene: ENSMUSG00000021638
AA Change: K254T

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Occludin_ELL 170 269 6.1e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160859
AA Change: K503T

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124849
Gene: ENSMUSG00000021638
AA Change: K503T

DomainStartEndE-ValueType
Pfam:MARVEL 57 261 6.6e-29 PFAM
Pfam:Occludin_ELL 419 518 8.8e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging Het
Other mutations in Ocln
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3793:Ocln UTSW 13 100,635,402 (GRCm39) missense possibly damaging 0.50
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
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'- GCCACGGAAACTTTGTAATGATCAC -3'
(R):5'- GCATTGGGTTCTGCCATGAG -3'

Sequencing Primer
(F):5'- CTCTGGAGAGAATTGCAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2018-11-28