Mutagenetix > Incidental Mutation

Incidental Mutation 'R6967:Ocln'

542074

Institutional Source

Beutler Lab

Gene Symbol

Ocln

Ensembl Gene

ENSMUSG00000021638

Gene Name

occludin

Synonyms

Ocl

MMRRC Submission

045077-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R6967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100633015-100689226 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 100675796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 232 (Y232*)

Ref Sequence

ENSEMBL: ENSMUSP00000124849 (fasta)

Gene Model

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

AlphaFold

Q61146

Predicted Effect

probably null
Transcript: ENSMUST00000022140
AA Change: Y232*

SMART Domains

Protein: ENSMUSP00000022140
Gene: ENSMUSG00000021638
AA Change: Y232*

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 null
Transcript: ENSMUST00000069756
AA Change: Y232*

SMART Domains

Protein: ENSMUSP00000065284
Gene: ENSMUSG00000021638
AA Change: Y232*

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 null
Transcript: ENSMUST00000160859
AA Change: Y232*

SMART Domains

Protein: ENSMUSP00000124849
Gene: ENSMUSG00000021638
AA Change: Y232*

Domain	Start	End	E-Value	Type
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: 99.5%
20x: 98.3%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	A	G	7: 103,708,212 (GRCm39)	I199T	probably benign	Het
Adam23	T	G	1: 63,602,495 (GRCm39)		probably null	Het
Adamts8	C	T	9: 30,865,787 (GRCm39)	T445I	probably benign	Het
Ahi1	T	C	10: 20,864,524 (GRCm39)	V752A	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Bicra	T	C	7: 15,706,130 (GRCm39)	E1437G	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,998 (GRCm39)	S131N	possibly damaging	Het
Ces1f	G	A	8: 93,994,625 (GRCm39)	P262L	probably benign	Het
Chrna2	A	T	14: 66,388,398 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,797,420 (GRCm39)	V1295M	possibly damaging	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dach1	A	T	14: 98,140,633 (GRCm39)	S456R	probably damaging	Het
Dhx37	T	C	5: 125,499,231 (GRCm39)	D659G	probably benign	Het
Dscaml1	T	C	9: 45,585,821 (GRCm39)	V586A	probably damaging	Het
Efhb	G	T	17: 53,770,196 (GRCm39)	L38I	probably benign	Het
Fbxw10	T	C	11: 62,738,429 (GRCm39)	S108P	possibly damaging	Het
Fmnl2	A	G	2: 52,987,344 (GRCm39)	N313S	possibly damaging	Het
Gga3	T	C	11: 115,482,102 (GRCm39)	E172G	probably damaging	Het
Ggta1	A	G	2: 35,292,734 (GRCm39)	V191A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hcn4	C	T	9: 58,731,228 (GRCm39)	T145M	unknown	Het
Kirrel3	T	C	9: 34,946,202 (GRCm39)	S654P	probably damaging	Het
Klrb1	A	T	6: 128,687,486 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,025,339 (GRCm39)	D166V	probably damaging	Het
Lipk	T	A	19: 34,017,794 (GRCm39)	Y277*	probably null	Het
Ly6g	A	C	15: 75,030,398 (GRCm39)	N49T	possibly damaging	Het
Ms4a4c	A	T	19: 11,392,191 (GRCm39)	Q4L	probably benign	Het
Nfya	A	C	17: 48,699,932 (GRCm39)		probably benign	Het
Nub1	T	C	5: 24,913,709 (GRCm39)	V530A	probably benign	Het
Or10ag59	A	G	2: 87,405,857 (GRCm39)	N143S	possibly damaging	Het
Or2r2	A	G	6: 42,463,947 (GRCm39)	F60S	probably damaging	Het
Or4d2b	C	T	11: 87,780,324 (GRCm39)	V133I	probably benign	Het
Or5b114-ps1	A	G	19: 13,352,815 (GRCm39)	H163R	unknown	Het
Otogl	G	A	10: 107,649,911 (GRCm39)	A1148V	probably benign	Het
Paqr5	C	T	9: 61,880,113 (GRCm39)	W46*	probably null	Het
Psd2	C	A	18: 36,113,385 (GRCm39)	L286M	probably damaging	Het
Ptpn4	A	T	1: 119,612,311 (GRCm39)	Y27*	probably null	Het
Ripk2	A	G	4: 16,158,275 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sbk2	C	T	7: 4,967,146 (GRCm39)		probably null	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sspo	A	C	6: 48,466,728 (GRCm39)	D4072A	probably benign	Het
St6galnac3	T	C	3: 152,912,345 (GRCm39)	Y214C	probably damaging	Het
Sugp1	T	A	8: 70,513,202 (GRCm39)	D256E	possibly damaging	Het
Sugt1	A	G	14: 79,834,847 (GRCm39)	Y90C	probably benign	Het
Taok2	A	G	7: 126,469,564 (GRCm39)	I1088T	probably damaging	Het
Tasor2	A	T	13: 3,624,819 (GRCm39)	D1710E	probably benign	Het
Tmc7	T	A	7: 118,146,901 (GRCm39)	T459S	probably benign	Het
Tmed11	T	C	5: 108,926,780 (GRCm39)	Y164C	probably damaging	Het
Tmem275	A	G	4: 115,755,491 (GRCm39)	T97A	unknown	Het
Tmem63b	T	C	17: 45,977,558 (GRCm39)	E356G	probably benign	Het
Ttc13	T	C	8: 125,415,357 (GRCm39)	I261V	probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn1r73	A	T	7: 11,490,544 (GRCm39)	K121*	probably null	Het
Zc3h12d	A	T	10: 7,715,644 (GRCm39)	S16C	probably damaging	Het
Zfp292	A	T	4: 34,807,812 (GRCm39)	M1744K	probably 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
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
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'- ATGGAACGCTGATCATGGC -3'
(R):5'- CTTGATCGTGATCATAGTCAGCGC -3'

Sequencing Primer
(F):5'- TGGCTTAATAATGACATCCAGCC -3'
(R):5'- GATCATAGTCAGCGCTATCCTGG -3'

Posted On

2018-11-28