Mutagenetix > Incidental Mutation

Incidental Mutation 'R9430:Ocln'

712919

Institutional Source

Beutler Lab

Gene Symbol

Ocln

Ensembl Gene

ENSMUSG00000021638

Gene Name

occludin

Synonyms

Ocl

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R9430 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100633015-100689226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100676356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 46 (F46V)

Ref Sequence

ENSEMBL: ENSMUSP00000022140 (fasta)

Gene Model

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

AlphaFold

Q61146

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022140
AA Change: F46V

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022140
Gene: ENSMUSG00000021638
AA Change: F46V

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: F46V

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065284
Gene: ENSMUSG00000021638
AA Change: F46V

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

possibly damaging
Transcript: ENSMUST00000160859
AA Change: F46V

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124849
Gene: ENSMUSG00000021638
AA Change: F46V

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: 98.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	C	1: 59,231,198 (GRCm39)	N804K	probably benign	Het
Arid5b	C	A	10: 68,022,087 (GRCm39)		probably null	Het
Brd2	T	C	17: 34,331,610 (GRCm39)	D779G	unknown	Het
Brox	A	T	1: 183,069,353 (GRCm39)	V118E	probably damaging	Het
Ccdc137	A	T	11: 120,349,530 (GRCm39)	E76V	probably damaging	Het
Ccdc150	A	G	1: 54,320,930 (GRCm39)	K327E	probably damaging	Het
Ccdc171	A	G	4: 83,522,362 (GRCm39)	E342G	probably damaging	Het
Cd109	G	A	9: 78,574,698 (GRCm39)		probably null	Het
Cep85	C	A	4: 133,894,665 (GRCm39)	R47L	probably damaging	Het
Cgrrf1	T	A	14: 47,091,331 (GRCm39)	V285E	probably damaging	Het
Ctu1	T	C	7: 43,326,042 (GRCm39)	S234P	probably damaging	Het
Dnah3	G	A	7: 119,628,205 (GRCm39)	T1484I	probably damaging	Het
Dusp16	G	T	6: 134,737,829 (GRCm39)	Q70K	probably damaging	Het
Eri3	T	G	4: 117,439,868 (GRCm39)	Y187*	probably null	Het
Evi2a	T	A	11: 79,418,523 (GRCm39)	Y29F	possibly damaging	Het
Ext2	A	G	2: 93,592,999 (GRCm39)	S402P	possibly damaging	Het
Fam76a	T	A	4: 132,645,055 (GRCm39)	Q60L	probably damaging	Het
Fat3	T	C	9: 16,287,381 (GRCm39)	N714S	probably damaging	Het
Fbxw24	T	A	9: 109,439,038 (GRCm39)	N179I	probably damaging	Het
Fras1	A	G	5: 96,929,251 (GRCm39)	N3885S	probably benign	Het
Grip2	A	T	6: 91,784,265 (GRCm39)	V12E	probably benign	Het
Gse1	A	T	8: 121,299,049 (GRCm39)	Y766F	unknown	Het
Herc1	C	T	9: 66,325,785 (GRCm39)	Q1420*	probably null	Het
Htr1f	T	A	16: 64,746,831 (GRCm39)	I154F	probably damaging	Het
Hus1b	G	T	13: 31,131,587 (GRCm39)	A24E	probably damaging	Het
Igkv17-127	A	G	6: 67,838,441 (GRCm39)	I51V	probably damaging	Het
Ilk	G	T	7: 105,390,072 (GRCm39)	R149L	probably benign	Het
Inpp5b	T	A	4: 124,636,340 (GRCm39)	V5E	possibly damaging	Het
Jak2	A	T	19: 29,265,367 (GRCm39)	S465C	possibly damaging	Het
Kif23	T	C	9: 61,834,722 (GRCm39)	T394A	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,921,802 (GRCm39)	D441G	probably null	Het
Ldhd	A	G	8: 112,356,680 (GRCm39)	L27P	possibly damaging	Het
Lingo1	A	G	9: 56,527,512 (GRCm39)	I365T	probably benign	Het
Lyz2	C	A	10: 117,118,077 (GRCm39)	C24F	possibly damaging	Het
Map1b	T	A	13: 99,570,616 (GRCm39)	T702S	unknown	Het
Map4	T	A	9: 109,863,760 (GRCm39)	D328E	probably benign	Het
Matn1	C	T	4: 130,673,278 (GRCm39)	T82M	probably damaging	Het
Mfrp	T	C	9: 44,014,570 (GRCm39)	V239A	probably damaging	Het
Misp	G	T	10: 79,661,675 (GRCm39)	V31F	probably benign	Het
Muc5ac	C	T	7: 141,362,569 (GRCm39)	T1960I	unknown	Het
Myh2	T	A	11: 67,070,359 (GRCm39)	M434K	probably benign	Het
Myh3	T	A	11: 66,982,726 (GRCm39)	I815N	possibly damaging	Het
Myo18a	A	G	11: 77,709,410 (GRCm39)	M507V	possibly damaging	Het
Nbas	T	A	12: 13,371,654 (GRCm39)	S385T	probably benign	Het
Nepro	G	A	16: 44,552,460 (GRCm39)	R319K	possibly damaging	Het
Nlrc3	A	T	16: 3,783,396 (GRCm39)	C53S	probably benign	Het
Nudt17	A	G	3: 96,614,224 (GRCm39)		probably null	Het
Nwd2	T	G	5: 63,964,665 (GRCm39)	C1416W	probably damaging	Het
Or52n3	A	T	7: 104,530,204 (GRCm39)	N97Y	possibly damaging	Het
Or5be3	A	T	2: 86,864,253 (GRCm39)	V104D	probably damaging	Het
Osbpl5	T	C	7: 143,263,526 (GRCm39)	K119R	probably benign	Het
Paf1	T	G	7: 28,096,331 (GRCm39)	F315V	possibly damaging	Het
Parp4	T	A	14: 56,866,673 (GRCm39)	V1079D	probably damaging	Het
Pcgf6	C	T	19: 47,039,219 (GRCm39)	A14T	unknown	Het
Plcxd1	A	G	5: 110,251,368 (GRCm39)	T315A	probably benign	Het
Plxnc1	A	G	10: 94,758,544 (GRCm39)	V384A	probably benign	Het
Polm	G	A	11: 5,784,749 (GRCm39)	T236I	probably damaging	Het
Prl7d1	T	C	13: 27,898,360 (GRCm39)	T50A	possibly damaging	Het
Reln	T	C	5: 22,120,105 (GRCm39)	D2849G	probably damaging	Het
Sec16b	C	T	1: 157,394,894 (GRCm39)	R1045C	probably damaging	Het
Six4	A	G	12: 73,150,719 (GRCm39)	S609P	possibly damaging	Het
Slc25a31	A	T	3: 40,679,297 (GRCm39)		probably null	Het
Slc4a2	A	G	5: 24,636,317 (GRCm39)	N230S	probably benign	Het
Sorcs1	T	C	19: 50,199,208 (GRCm39)	Y785C	probably damaging	Het
Styxl1	A	G	5: 135,784,259 (GRCm39)		probably null	Het
Synm	C	T	7: 67,383,181 (GRCm39)	V1494M	possibly damaging	Het
Taf7l2	A	T	10: 115,949,282 (GRCm39)	D81E	probably damaging	Het
Tamm41	A	G	6: 114,993,063 (GRCm39)	M230T	probably benign	Het
Tbc1d12	T	G	19: 38,884,490 (GRCm39)	M347R	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tm4sf1	A	C	3: 57,197,214 (GRCm39)	S164A	probably damaging	Het
Trim67	A	G	8: 125,552,956 (GRCm39)	H686R	probably damaging	Het
Trpm1	T	C	7: 63,873,446 (GRCm39)	L567P	probably benign	Het
Tsfm	A	G	10: 126,858,771 (GRCm39)	L198P	probably damaging	Het
Ttc6	A	T	12: 57,733,193 (GRCm39)	D1112V	probably damaging	Het
Ttn	A	G	2: 76,601,922 (GRCm39)	V18580A	probably benign	Het
Ubr1	C	A	2: 120,734,506 (GRCm39)	Q1131H	possibly damaging	Het
Uhrf2	C	T	19: 30,016,659 (GRCm39)	R117C	probably benign	Het
Vmn2r70	A	G	7: 85,215,240 (GRCm39)	V98A	probably benign	Het
Zfp799	T	C	17: 33,039,186 (GRCm39)	E360G	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
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
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'- ATGGCCAACAGGAAGCCTTTG -3'
(R):5'- TCAGCGGGTTTTAAATAGTTTCACC -3'

Sequencing Primer
(F):5'- GGTCTGTATATCCGCCATAGCCATAG -3'
(R):5'- CCTACAAGGCTGATTTTATTCCAAGC -3'

Posted On

2022-05-16