Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Optn'

31567

Institutional Source

Beutler Lab

Gene Symbol

Optn

Ensembl Gene

ENSMUSG00000026672

Gene Name

optineurin

Synonyms

TFIIIA-INTP, 4930441O07Rik

MMRRC Submission

038596-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R0390 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5025453-5068862 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5051006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 125 (L125P)

Ref Sequence

ENSEMBL: ENSMUSP00000110648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027986] [ENSMUST00000114996]

AlphaFold

Q8K3K8

Predicted Effect

probably benign
Transcript: ENSMUST00000027986
AA Change: L125P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: L125P

Domain	Start	End	E-Value	Type
Pfam:NEMO	37	104	2e-27	PFAM
coiled coil region	243	278	N/A	INTRINSIC
PDB:2ZVO\|D	424	512	2e-11	PDB
PDB:2LO4\|A	551	584	4e-15	PDB
Blast:ZnF_C2H2	560	580	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114996
AA Change: L125P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: L125P

Domain	Start	End	E-Value	Type
Pfam:NEMO	37	104	2e-27	PFAM
coiled coil region	243	278	N/A	INTRINSIC
Pfam:CC2-LZ	407	510	3.2e-33	PFAM
PDB:2LO4\|A	551	584	4e-15	PDB
Blast:ZnF_C2H2	560	580	2e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143809

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice hypomorphic allele exhibit background sensitive embryonic lethality with surviving mice exhibiting normal immune cell development, T and B cell activation and TNF- or LPS-mediated activation of cells of the innate immune system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ap2m1	T	C	16: 20,359,849 (GRCm39)	M183T	probably damaging	Het
Apob	A	T	12: 8,038,678 (GRCm39)	I364F	probably damaging	Het
Arl6	A	T	16: 59,442,784 (GRCm39)		probably benign	Het
Cand2	A	G	6: 115,751,614 (GRCm39)	M15V	possibly damaging	Het
Cbl	A	G	9: 44,112,302 (GRCm39)	F131S	probably damaging	Het
Ccdc74a	A	G	16: 17,468,340 (GRCm39)	S321G	probably benign	Het
Cdc14b	T	C	13: 64,358,006 (GRCm39)		probably benign	Het
Cep152	T	C	2: 125,418,789 (GRCm39)		probably benign	Het
Cep290	A	G	10: 100,344,620 (GRCm39)	E479G	probably benign	Het
Chrm2	T	G	6: 36,501,046 (GRCm39)	I301R	probably benign	Het
Clec2e	A	G	6: 129,070,431 (GRCm39)	W197R	probably damaging	Het
Cnot10	G	T	9: 114,458,218 (GRCm39)	S96*	probably null	Het
Col19a1	A	G	1: 24,328,736 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,027,466 (GRCm39)		probably benign	Het
Cthrc1	A	T	15: 38,950,159 (GRCm39)	*172L	probably null	Het
Cul9	A	T	17: 46,839,515 (GRCm39)	I821N	probably benign	Het
Daam1	G	C	12: 72,022,078 (GRCm39)		probably benign	Het
Dhx58	A	T	11: 100,590,090 (GRCm39)	I398N	probably damaging	Het
Dip2b	T	A	15: 100,091,794 (GRCm39)	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,320,454 (GRCm39)	D50G	probably damaging	Het
Dmxl1	C	A	18: 50,012,429 (GRCm39)	Q1529K	probably benign	Het
Dtna	C	T	18: 23,730,558 (GRCm39)	P315L	probably damaging	Het
Ep300	T	C	15: 81,524,317 (GRCm39)	S1382P	unknown	Het
Fat2	A	T	11: 55,201,603 (GRCm39)	N490K	probably damaging	Het
Flg2	T	A	3: 93,107,662 (GRCm39)		probably benign	Het
Gpatch1	T	C	7: 34,980,806 (GRCm39)		probably benign	Het
Grin2a	C	A	16: 9,397,449 (GRCm39)	K879N	possibly damaging	Het
Hacd3	A	C	9: 64,908,304 (GRCm39)	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,210,245 (GRCm39)	C197G	probably damaging	Het
Hsd17b12	T	C	2: 93,945,335 (GRCm39)		probably benign	Het
Hsd3b1	A	T	3: 98,760,355 (GRCm39)	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,264,093 (GRCm39)		probably null	Het
Igf2bp2	A	G	16: 21,900,551 (GRCm39)	F129L	possibly damaging	Het
Kirrel3	T	A	9: 34,931,459 (GRCm39)	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,411 (GRCm39)	I204T	probably damaging	Het
Kpna6	A	T	4: 129,551,597 (GRCm39)	S65R	possibly damaging	Het
Lama3	A	T	18: 12,540,620 (GRCm39)	D308V	probably benign	Het
Larp4b	T	A	13: 9,208,143 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175 (GRCm39)	T11S	probably benign	Het
Man1c1	A	G	4: 134,305,626 (GRCm39)	L366P	probably damaging	Het
Mef2a	A	G	7: 66,901,472 (GRCm39)	M100T	probably damaging	Het
Mettl13	G	A	1: 162,366,458 (GRCm39)	H474Y	possibly damaging	Het
Minar2	T	A	18: 59,208,760 (GRCm39)	V136E	probably damaging	Het
Mmp3	A	G	9: 7,451,320 (GRCm39)	D352G	probably benign	Het
Mns1	T	C	9: 72,360,086 (GRCm39)	I412T	probably damaging	Het
Mon2	T	C	10: 122,842,926 (GRCm39)	D1501G	probably null	Het
Mylk	G	T	16: 34,695,990 (GRCm39)	G242W	probably damaging	Het
Nav1	T	C	1: 135,377,704 (GRCm39)	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,362,310 (GRCm39)	S2P	probably damaging	Het
Nek3	A	T	8: 22,618,745 (GRCm39)		probably benign	Het
Nfrkb	A	G	9: 31,300,193 (GRCm39)		probably benign	Het
Nlrp4d	T	C	7: 10,122,705 (GRCm39)	D53G	probably benign	Het
Nol8	T	C	13: 49,815,628 (GRCm39)	S561P	probably damaging	Het
Nuf2	A	C	1: 169,352,866 (GRCm39)		probably benign	Het
Odad3	T	A	9: 21,903,004 (GRCm39)	H442L	probably benign	Het
Ofcc1	T	A	13: 40,168,789 (GRCm39)	D866V	possibly damaging	Het
Or5k3	A	G	16: 58,969,662 (GRCm39)	I150V	probably benign	Het
Otoa	T	A	7: 120,730,564 (GRCm39)	F588Y	probably benign	Het
Pappa	T	A	4: 65,269,850 (GRCm39)		probably null	Het
Pde5a	T	G	3: 122,629,232 (GRCm39)	C635W	probably damaging	Het
Pdgfb	A	T	15: 79,887,620 (GRCm39)		probably null	Het
Pih1d2	T	A	9: 50,532,346 (GRCm39)	C135S	probably damaging	Het
Plcg1	G	T	2: 160,594,286 (GRCm39)	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,567,619 (GRCm39)		probably benign	Het
Pramel26	T	A	4: 143,538,269 (GRCm39)	D234V	probably benign	Het
Prdm10	G	A	9: 31,260,564 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,159,930 (GRCm39)		probably null	Het
Prss56	T	G	1: 87,112,452 (GRCm39)		probably null	Het
Prtg	A	G	9: 72,752,240 (GRCm39)	K209E	probably benign	Het
Ptprc	G	A	1: 138,050,313 (GRCm39)	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 28,845,285 (GRCm39)	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,318,858 (GRCm39)	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,763,197 (GRCm39)	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,415,987 (GRCm39)	V500A	probably damaging	Het
Rgs6	A	G	12: 83,180,451 (GRCm39)	K434R	probably damaging	Het
Rims1	C	T	1: 22,635,607 (GRCm39)	A125T	possibly damaging	Het
Robo3	A	G	9: 37,333,473 (GRCm39)	V746A	probably benign	Het
Rtl1	C	T	12: 109,557,820 (GRCm39)	E1340K	unknown	Het
Sacs	G	A	14: 61,443,089 (GRCm39)	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,103,402 (GRCm39)	P19S	probably benign	Het
Samhd1	T	C	2: 156,956,151 (GRCm39)	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,500,410 (GRCm39)	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243 (GRCm39)	A4T	probably benign	Het
Skint9	C	A	4: 112,246,376 (GRCm39)	L245F	probably benign	Het
Slc35f5	T	C	1: 125,512,832 (GRCm39)	L372P	probably damaging	Het
Smc1b	A	T	15: 84,950,478 (GRCm39)	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,785,138 (GRCm39)		probably benign	Het
Sptlc1	T	C	13: 53,491,648 (GRCm39)	D417G	probably benign	Het
Sv2c	T	C	13: 96,225,216 (GRCm39)	N31S	probably benign	Het
Tjp1	T	C	7: 64,964,738 (GRCm39)	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442 (GRCm38)	T1221A	probably benign	Het
Tph2	T	C	10: 115,010,014 (GRCm39)	D182G	probably damaging	Het
Traf6	C	T	2: 101,518,933 (GRCm39)	Q141*	probably null	Het
Ttn	T	C	2: 76,587,275 (GRCm39)	D21574G	probably damaging	Het
Uba2	T	A	7: 33,850,446 (GRCm39)	N367I	probably benign	Het
Ube2b	T	C	11: 51,879,429 (GRCm39)		probably benign	Het
Ubr5	G	T	15: 38,030,916 (GRCm39)	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,612,007 (GRCm39)	H301L	probably benign	Het
Upf2	T	A	2: 6,023,705 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,585,804 (GRCm39)	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,800,140 (GRCm39)	D734G	probably damaging	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vwf	T	A	6: 125,603,324 (GRCm39)	Y891*	probably null	Het
Wwox	C	T	8: 115,433,018 (GRCm39)	T228I	probably benign	Het
Zer1	C	T	2: 29,998,225 (GRCm39)		probably benign	Het
Zfp180	C	T	7: 23,804,132 (GRCm39)	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,605,487 (GRCm39)	Y279N	probably benign	Het

Other mutations in Optn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Optn	APN	2	5,037,967 (GRCm39)	missense	possibly damaging	0.93
IGL01433:Optn	APN	2	5,031,955 (GRCm39)	missense	probably benign	0.07
IGL01480:Optn	APN	2	5,050,829 (GRCm39)	missense	probably benign	0.01
IGL01863:Optn	APN	2	5,026,298 (GRCm39)	splice site	probably benign
IGL02108:Optn	APN	2	5,036,084 (GRCm39)	missense	possibly damaging	0.91
IGL02150:Optn	APN	2	5,037,963 (GRCm39)	missense	probably damaging	0.97
IGL02623:Optn	APN	2	5,039,833 (GRCm39)	missense	probably damaging	1.00
R0119:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R0121:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R0330:Optn	UTSW	2	5,039,066 (GRCm39)	missense	possibly damaging	0.53
R0332:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R0335:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R0437:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R1710:Optn	UTSW	2	5,057,941 (GRCm39)	missense	possibly damaging	0.90
R2229:Optn	UTSW	2	5,028,928 (GRCm39)	missense	probably damaging	1.00
R3237:Optn	UTSW	2	5,039,014 (GRCm39)	missense	probably damaging	1.00
R3740:Optn	UTSW	2	5,039,009 (GRCm39)	missense	possibly damaging	0.51
R3741:Optn	UTSW	2	5,039,009 (GRCm39)	missense	possibly damaging	0.51
R4667:Optn	UTSW	2	5,037,950 (GRCm39)	missense	probably benign	0.20
R4783:Optn	UTSW	2	5,059,438 (GRCm39)	missense	probably benign
R4965:Optn	UTSW	2	5,026,190 (GRCm39)	missense	probably benign	0.14
R5121:Optn	UTSW	2	5,050,917 (GRCm39)	missense	probably benign	0.25
R6119:Optn	UTSW	2	5,026,134 (GRCm39)	splice site	probably null
R7024:Optn	UTSW	2	5,057,648 (GRCm39)	splice site	probably null
R7167:Optn	UTSW	2	5,047,294 (GRCm39)	missense	probably benign	0.00
R7685:Optn	UTSW	2	5,059,461 (GRCm39)	missense	probably benign	0.01
R8103:Optn	UTSW	2	5,045,013 (GRCm39)	missense	probably damaging	0.97
R8267:Optn	UTSW	2	5,059,462 (GRCm39)	missense	probably benign	0.00
R8844:Optn	UTSW	2	5,031,923 (GRCm39)	critical splice donor site	probably null
R9082:Optn	UTSW	2	5,059,451 (GRCm39)	missense	probably damaging	1.00
R9141:Optn	UTSW	2	5,059,485 (GRCm39)	missense	possibly damaging	0.93
R9238:Optn	UTSW	2	5,057,951 (GRCm39)	missense	probably damaging	1.00
R9260:Optn	UTSW	2	5,045,076 (GRCm39)	missense	probably benign
R9287:Optn	UTSW	2	5,036,126 (GRCm39)	missense	probably damaging	0.98
R9426:Optn	UTSW	2	5,059,485 (GRCm39)	missense	possibly damaging	0.93
R9787:Optn	UTSW	2	5,036,150 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGTTCTGAGACGATGCCCA -3'
(R):5'- CGCTGTATCACTAGCTCCCACATTC -3'

Sequencing Primer
(F):5'- AGACGATGCCCAGCAGG -3'
(R):5'- ggcacctgaagagcgac -3'

Posted On

2013-04-24