Mutagenetix > Incidental Mutation

Incidental Mutation 'R5055:Ocln'

390802

Institutional Source

Beutler Lab

Gene Symbol

Ocln

Ensembl Gene

ENSMUSG00000021638

Gene Name

occludin

Synonyms

Ocl

MMRRC Submission

042645-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R5055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100633015-100689226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100675930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 188 (T188S)

Ref Sequence

ENSEMBL: ENSMUSP00000124849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022140] [ENSMUST00000069756] [ENSMUST00000159459] [ENSMUST00000159515] [ENSMUST00000160859]

AlphaFold

Q61146

Predicted Effect

probably benign
Transcript: ENSMUST00000022140
AA Change: T188S

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022140
Gene: ENSMUSG00000021638
AA Change: T188S

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

probably benign
Transcript: ENSMUST00000069756
AA Change: T188S

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065284
Gene: ENSMUSG00000021638
AA Change: T188S

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

SMART Domains

Protein: ENSMUSP00000125642
Gene: ENSMUSG00000021638

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Occludin_ELL	170	269	6.1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159515

SMART Domains

Protein: ENSMUSP00000125595
Gene: ENSMUSG00000021638

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160859
AA Change: T188S

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124849
Gene: ENSMUSG00000021638
AA Change: T188S

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

0.1497

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

98% (84/86)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	G	A	11: 46,013,996 (GRCm39)	V329I	probably damaging	Het
Adgrl3	C	A	5: 81,794,398 (GRCm39)	A541E	possibly damaging	Het
Agbl1	A	T	7: 76,063,325 (GRCm39)	I263F	probably damaging	Het
Ash1l	T	C	3: 88,930,519 (GRCm39)		probably null	Het
Bccip	A	G	7: 133,316,652 (GRCm39)	T91A	probably benign	Het
Bnc1	A	T	7: 81,624,163 (GRCm39)	F355I	probably damaging	Het
Bpifa2	A	T	2: 153,855,630 (GRCm39)	D185V	probably damaging	Het
Capn8	T	A	1: 182,399,526 (GRCm39)	V89D	probably damaging	Het
Cfap46	A	T	7: 139,241,106 (GRCm39)	M421K	probably damaging	Het
Chd2	A	T	7: 73,130,256 (GRCm39)	L800M	probably damaging	Het
Chd4	A	G	6: 125,077,949 (GRCm39)	D137G	possibly damaging	Het
Crtap	A	G	9: 114,219,208 (GRCm39)	Y154H	probably benign	Het
Ctdp1	T	A	18: 80,499,303 (GRCm39)	Q213L	probably damaging	Het
Cts6	T	C	13: 61,344,164 (GRCm39)	Y296C	probably damaging	Het
Daxx	G	T	17: 34,131,134 (GRCm39)	V354F	probably benign	Het
Dnah2	A	G	11: 69,411,599 (GRCm39)	I341T	possibly damaging	Het
Epha2	A	G	4: 141,036,380 (GRCm39)	D272G	probably benign	Het
Etfa	A	G	9: 55,407,417 (GRCm39)	V24A	probably damaging	Het
Fbxl7	C	A	15: 26,553,022 (GRCm39)	G82W	probably damaging	Het
Fcamr	G	A	1: 130,739,174 (GRCm39)	C158Y	probably damaging	Het
Fyb1	A	C	15: 6,614,630 (GRCm39)		probably benign	Het
Gars1	G	A	6: 55,045,077 (GRCm39)	R454H	probably damaging	Het
Ghsr	T	C	3: 27,426,421 (GRCm39)	V159A	probably benign	Het
Glp1r	A	T	17: 31,137,861 (GRCm39)	Q97H	probably benign	Het
Gm27047	T	C	6: 130,606,909 (GRCm39)		noncoding transcript	Het
Igkv3-3	A	C	6: 70,664,223 (GRCm39)	I22L	probably benign	Het
Inpp5b	G	T	4: 124,636,824 (GRCm39)		probably null	Het
Ipo9	C	A	1: 135,330,097 (GRCm39)	E448*	probably null	Het
Itgb2l	A	T	16: 96,229,003 (GRCm39)	I400N	probably damaging	Het
Kat6b	T	A	14: 21,567,062 (GRCm39)	H40Q	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcnq2	G	T	2: 180,728,554 (GRCm39)		probably benign	Het
Klf7	T	C	1: 64,118,439 (GRCm39)	T53A	probably benign	Het
Kmt2a	A	G	9: 44,729,649 (GRCm39)		probably benign	Het
Lrp10	C	T	14: 54,705,802 (GRCm39)	R331C	probably benign	Het
Map4k5	A	T	12: 69,878,332 (GRCm39)	D289E	probably benign	Het
Mfsd4b2	A	T	10: 39,799,773 (GRCm39)	M43K	possibly damaging	Het
Msr1	T	G	8: 40,076,997 (GRCm39)	R138S	possibly damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Myh9	G	A	15: 77,648,723 (GRCm39)	A1711V	probably benign	Het
Myo18b	A	G	5: 113,023,083 (GRCm39)		probably benign	Het
Nampt	A	T	12: 32,883,120 (GRCm39)	N102Y	possibly damaging	Het
Nell2	T	C	15: 95,371,460 (GRCm39)	I92V	probably benign	Het
Nes	A	G	3: 87,884,521 (GRCm39)	N883D	probably benign	Het
Neurl3	T	A	1: 36,312,463 (GRCm39)		probably benign	Het
Or2ag20	T	A	7: 106,464,937 (GRCm39)	M250K	probably damaging	Het
Or5m10	T	C	2: 85,717,585 (GRCm39)	F147S	probably benign	Het
Parp14	T	A	16: 35,664,733 (GRCm39)	Q1305L	probably benign	Het
Pde3a	C	T	6: 141,433,682 (GRCm39)	Q855*	probably null	Het
Pde4b	T	C	4: 102,052,311 (GRCm39)		probably benign	Het
Pdk2	T	C	11: 94,930,242 (GRCm39)	M65V	probably benign	Het
Phf21a	T	C	2: 92,182,201 (GRCm39)	S377P	probably damaging	Het
Plcb2	T	A	2: 118,548,703 (GRCm39)	T408S	probably benign	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ppp6r2	A	G	15: 89,167,152 (GRCm39)	D789G	probably benign	Het
Prdm16	T	C	4: 154,419,719 (GRCm39)	M897V	possibly damaging	Het
Prss57	A	G	10: 79,620,178 (GRCm39)		probably null	Het
Psd	G	T	19: 46,310,907 (GRCm39)	L381I	probably benign	Het
Ptprq	A	T	10: 107,370,540 (GRCm39)	D2050E	probably benign	Het
Rfc1	G	T	5: 65,423,505 (GRCm39)	N1034K	probably damaging	Het
Ryr3	C	T	2: 112,661,504 (GRCm39)	G1829S	probably benign	Het
Scaper	T	C	9: 55,767,003 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,351,632 (GRCm39)	I783T	probably damaging	Het
Slc28a1	A	G	7: 80,818,796 (GRCm39)	N583S	possibly damaging	Het
Slc35e3	C	T	10: 117,580,884 (GRCm39)	G140D	probably damaging	Het
Slc6a9	G	A	4: 117,725,347 (GRCm39)		probably null	Het
Sptlc1	A	G	13: 53,496,218 (GRCm39)	S376P	probably benign	Het
Sspo	G	A	6: 48,441,729 (GRCm39)	C1913Y	probably damaging	Het
Taar7b	A	T	10: 23,876,845 (GRCm39)	I337F	possibly damaging	Het
Tdpoz2	T	A	3: 93,559,235 (GRCm39)	I246F	probably damaging	Het
Trpa1	C	T	1: 14,946,183 (GRCm39)	V983M	probably damaging	Het
Trpm5	A	T	7: 142,626,521 (GRCm39)	M1112K	probably benign	Het
Tsbp1	G	A	17: 34,667,770 (GRCm39)	C154Y	possibly damaging	Het
Uso1	A	T	5: 92,340,594 (GRCm39)	K670I	probably benign	Het
Washc4	A	G	10: 83,392,771 (GRCm39)	D257G	probably damaging	Het
Wdr41	T	A	13: 95,151,725 (GRCm39)		probably null	Het
Zbtb17	A	G	4: 141,193,860 (GRCm39)	Q668R	possibly damaging	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
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
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'- TTCATACCTCCTGGGGATCAAC -3'
(R):5'- TGGAGGAAGCCTAAACTACCC -3'

Sequencing Primer
(F):5'- CTGGGGATCAACCACACAGTAGTG -3'
(R):5'- CTATGGCTATGGCGGATATACAGACC -3'

Posted On

2016-06-06