Incidental Mutation 'R4534:Ocln'
ID 333257
Institutional Source Beutler Lab
Gene Symbol Ocln
Ensembl Gene ENSMUSG00000021638
Gene Name occludin
Synonyms Ocl
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # R4534 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 100633015-100689226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100648112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 104 (I104N)
Ref Sequence ENSEMBL: ENSMUSP00000125595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022140] [ENSMUST00000069756] [ENSMUST00000159459] [ENSMUST00000159515] [ENSMUST00000160859]
AlphaFold Q61146
Predicted Effect probably benign
Transcript: ENSMUST00000022140
AA Change: I353N

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022140
Gene: ENSMUSG00000021638
AA Change: I353N

DomainStartEndE-ValueType
Pfam:MARVEL 57 261 6.6e-29 PFAM
Pfam:Occludin_ELL 419 518 8.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069756
AA Change: I353N

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000065284
Gene: ENSMUSG00000021638
AA Change: I353N

DomainStartEndE-ValueType
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: I104N

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125642
Gene: ENSMUSG00000021638
AA Change: I104N

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Occludin_ELL 170 269 6.1e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159515
AA Change: I104N

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125595
Gene: ENSMUSG00000021638
AA Change: I104N

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160859
AA Change: I353N

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124849
Gene: ENSMUSG00000021638
AA Change: I353N

DomainStartEndE-ValueType
Pfam:MARVEL 57 261 6.6e-29 PFAM
Pfam:Occludin_ELL 419 518 8.8e-35 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 C T 4: 98,926,232 (GRCm39) T454I possibly damaging Het
Arhgef4 T C 1: 34,762,162 (GRCm39) S473P unknown Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Clstn3 C T 6: 124,436,179 (GRCm39) R190Q probably damaging Het
Dennd2b A T 7: 109,130,363 (GRCm39) S879R probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dnaaf5 C T 5: 139,137,282 (GRCm39) Q212* probably null Het
Efcc1 A G 6: 87,730,133 (GRCm39) D482G probably null Het
Eri2 T C 7: 119,389,466 (GRCm39) T151A probably damaging Het
Exoc4 C T 6: 33,254,179 (GRCm39) R112C probably damaging Het
Fyco1 A G 9: 123,667,953 (GRCm39) V91A probably damaging Het
Gm10320 G A 13: 98,626,316 (GRCm39) P23S probably benign Het
Hbs1l A G 10: 21,217,814 (GRCm39) I240M possibly damaging Het
Heatr5b T C 17: 79,118,025 (GRCm39) H806R possibly damaging Het
Herc3 T C 6: 58,837,332 (GRCm39) V335A probably benign Het
Ifi205 G A 1: 173,845,207 (GRCm39) P192S probably benign Het
Ifna6 C A 4: 88,746,086 (GRCm39) T145K probably benign Het
Ifna6 G C 4: 88,746,099 (GRCm39) R149S probably benign Het
Ifna9 T C 4: 88,510,285 (GRCm39) H113R possibly damaging Het
Il17rd T C 14: 26,818,019 (GRCm39) F236S probably damaging Het
Incenp T C 19: 9,861,303 (GRCm39) N450S unknown Het
Jmjd8 C T 17: 26,047,984 (GRCm39) probably null Het
Lhx3 C T 2: 26,094,026 (GRCm39) V66I probably benign Het
Nt5c2 C T 19: 46,880,100 (GRCm39) C336Y probably damaging Het
Ntrk2 G A 13: 59,274,343 (GRCm39) V740I probably damaging Het
Or14j8 T C 17: 38,263,613 (GRCm39) I101V probably benign Het
Or8g54 G T 9: 39,707,296 (GRCm39) L208F probably benign Het
Ppp1r3c T C 19: 36,711,522 (GRCm39) K83E probably damaging Het
Sh3glb1 T A 3: 144,405,624 (GRCm39) E77D possibly damaging Het
Slc38a3 T C 9: 107,533,405 (GRCm39) N251S probably benign Het
Spopfm2 T C 3: 94,083,757 (GRCm39) Y18C probably benign Het
Stox2 A T 8: 47,646,414 (GRCm39) S287T probably damaging Het
Sycp2 C A 2: 177,996,802 (GRCm39) V1134F probably damaging Het
Tenm2 C T 11: 35,953,931 (GRCm39) S1260N possibly damaging Het
Tfpi2 T C 6: 3,968,044 (GRCm39) N32S possibly damaging Het
Thoc5 C T 11: 4,874,807 (GRCm39) R533* probably null Het
Ttll2 A T 17: 7,619,120 (GRCm39) I269N probably benign Het
Uchl5 C T 1: 143,661,954 (GRCm39) T76I probably benign Het
Vmn2r102 A G 17: 19,914,975 (GRCm39) T847A probably benign Het
Xpa T C 4: 46,185,624 (GRCm39) N118S probably benign Het
Xrcc3 A G 12: 111,770,966 (GRCm39) L321P probably damaging Het
Xylt2 T C 11: 94,557,176 (GRCm39) D105G probably benign 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
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'- ACCAAATGCTTAAGGGGCAG -3'
(R):5'- CCAGACTGAATGCAGGAATCTG -3'

Sequencing Primer
(F):5'- GGCTTACCTGACCCAGTCC -3'
(R):5'- CTGAATGCAGGAATCTGTGCATC -3'
Posted On 2015-08-18