Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Ocln'

243674

Institutional Source

Beutler Lab

Gene Symbol

Ocln

Ensembl Gene

ENSMUSG00000021638

Gene Name

occludin

Synonyms

Ocl

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100633015-100689226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100671537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 24 (D24E)

Ref Sequence

ENSEMBL: ENSMUSP00000125595 (fasta)

Gene Model

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

AlphaFold

Q61146

Predicted Effect

probably damaging
Transcript: ENSMUST00000022140
AA Change: D273E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022140
Gene: ENSMUSG00000021638
AA Change: D273E

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 damaging
Transcript: ENSMUST00000069756
AA Change: D273E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065284
Gene: ENSMUSG00000021638
AA Change: D273E

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 damaging
Transcript: ENSMUST00000159459
AA Change: D24E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125642
Gene: ENSMUSG00000021638
AA Change: D24E

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 damaging
Transcript: ENSMUST00000159515
AA Change: D24E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125595
Gene: ENSMUSG00000021638
AA Change: D24E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160859
AA Change: D273E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124849
Gene: ENSMUSG00000021638
AA Change: D273E

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,189,375 (GRCm39)	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,367,168 (GRCm39)	N247T	probably damaging	Het
Atp10b	A	G	11: 43,063,572 (GRCm39)	D169G	probably damaging	Het
Atp10b	G	A	11: 43,080,440 (GRCm39)	V239M	probably damaging	Het
Cflar	C	T	1: 58,768,280 (GRCm39)	T121I	probably benign	Het
Clca3b	T	C	3: 144,552,142 (GRCm39)	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,177,192 (GRCm39)	I62N	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,008,460 (GRCm39)	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,046,631 (GRCm39)	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,174,568 (GRCm39)	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,662,841 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,922,196 (GRCm39)	I143T	probably damaging	Het
E2f7	T	G	10: 110,582,204 (GRCm39)	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,063,172 (GRCm39)	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,286,264 (GRCm39)	I1017L	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Exoc7	T	C	11: 116,197,237 (GRCm39)	S35G	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fmn2	T	A	1: 174,330,498 (GRCm39)	L296H	unknown	Het
Galnt14	C	A	17: 73,801,261 (GRCm39)	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107 (GRCm39)	C396R	probably benign	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Glb1	C	T	9: 114,272,100 (GRCm39)	Q246*	probably null	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,950,444 (GRCm39)	Y172C	probably damaging	Het
Ift52	A	G	2: 162,870,013 (GRCm39)	N159S	probably benign	Het
Insrr	A	G	3: 87,707,759 (GRCm39)	D67G	probably damaging	Het
Insyn2a	T	A	7: 134,519,396 (GRCm39)	E378V	probably damaging	Het
Irf2	A	G	8: 47,290,868 (GRCm39)	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,732,140 (GRCm39)	H187R	probably damaging	Het
Kdm2b	C	T	5: 123,020,479 (GRCm39)	G90S	probably damaging	Het
Kif7	C	T	7: 79,361,337 (GRCm39)	G118D	probably damaging	Het
Klhl38	G	C	15: 58,178,374 (GRCm39)	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,792,440 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,907,123 (GRCm39)	L2346S	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo7a	T	G	7: 97,718,706 (GRCm39)	D1388A	probably damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Ncoa1	A	C	12: 4,365,819 (GRCm39)	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,986,877 (GRCm39)	L212F	probably damaging	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Npy2r	G	T	3: 82,448,661 (GRCm39)	P38Q	possibly damaging	Het
Or14c41	T	A	7: 86,235,092 (GRCm39)	V203D	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Phf3	A	G	1: 30,843,424 (GRCm39)	V1845A	probably benign	Het
Plch1	T	A	3: 63,605,398 (GRCm39)	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,190,908 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,882,459 (GRCm39)	V1541A	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Pura	T	C	18: 36,420,803 (GRCm39)	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 184,954,056 (GRCm39)	W43R	probably damaging	Het
Repin1	A	G	6: 48,573,464 (GRCm39)	Q128R	probably benign	Het
Rnf208	G	A	2: 25,133,656 (GRCm39)	V117I	probably damaging	Het
Rpe65	A	G	3: 159,321,208 (GRCm39)	Y340C	probably damaging	Het
Ryr1	C	A	7: 28,719,166 (GRCm39)	V4414L	unknown	Het
Sephs2	T	C	7: 126,872,649 (GRCm39)	E148G	possibly damaging	Het
Spns2	T	A	11: 72,348,094 (GRCm39)	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,946,915 (GRCm39)	P1090S	probably benign	Het
Tasp1	A	T	2: 139,793,426 (GRCm39)	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,568,364 (GRCm39)	I664T	possibly damaging	Het
Tg	T	C	15: 66,555,747 (GRCm39)	V813A	probably benign	Het
Tmem132c	T	C	5: 127,581,988 (GRCm39)	L401P	probably benign	Het
Tmem138	T	C	19: 10,548,967 (GRCm39)	N101S	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Tnni3	T	A	7: 4,522,405 (GRCm39)	I182F	probably benign	Het
Trim30a	T	A	7: 104,060,711 (GRCm39)	D355V	probably damaging	Het
Trim35	C	T	14: 66,546,711 (GRCm39)	R493*	probably null	Het
Trip10	G	C	17: 57,562,135 (GRCm39)	V254L	probably benign	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780 (GRCm39)	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Usp8	A	G	2: 126,600,488 (GRCm39)	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,590,119 (GRCm39)	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zfp407	G	T	18: 84,227,918 (GRCm39)	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,791,459 (GRCm39)	R2188*	probably null	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
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
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'- GACCTACCTTTTAAACATTCTGAGC -3'
(R):5'- CACAAGTACTTAGGCCCTTTGG -3'

Sequencing Primer
(F):5'- CTTTAATTCCAGCACTCGGAAGG -3'
(R):5'- GTAAGGGTTTTTGCTCCTAGAAG -3'

Posted On

2014-10-16