Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Optn'

26147

Institutional Source

Beutler Lab

Gene Symbol

Optn

Ensembl Gene

ENSMUSG00000026672

Gene Name

optineurin

Synonyms

TFIIIA-INTP, 4930441O07Rik

MMRRC Submission

038544-MU

Accession Numbers

Essential gene?

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

Stock #

R0335 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

5025453-5068862 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5028926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 526 (G526R)

Ref Sequence

ENSEMBL: ENSMUSP00000110648 (fasta)

Gene Model

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

AlphaFold

Q8K3K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027986
AA Change: G526R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: G526R

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 damaging
Transcript: ENSMUST00000114996
AA Change: G526R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: G526R

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: ENSMUST00000125203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145501

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	T	15: 11,311,144 (GRCm39)	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,225,259 (GRCm39)	T460A	probably benign	Het
Amer3	A	C	1: 34,618,381 (GRCm39)		probably benign	Het
Arhgap22	C	T	14: 33,081,065 (GRCm39)		probably benign	Het
Arhgap32	T	G	9: 32,171,056 (GRCm39)	S1279A	probably benign	Het
Bcas1	G	A	2: 170,260,601 (GRCm39)	T26M	probably damaging	Het
Begain	A	T	12: 109,004,860 (GRCm39)	F256I	probably damaging	Het
Bltp1	T	C	3: 37,023,301 (GRCm39)	V2210A	probably damaging	Het
Cabin1	A	T	10: 75,492,883 (GRCm39)	I1804N	probably damaging	Het
Cad	G	A	5: 31,231,329 (GRCm39)		probably benign	Het
Carmil1	G	A	13: 24,257,966 (GRCm39)	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,420,706 (GRCm39)	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,635 (GRCm39)		probably null	Het
Cep15	A	G	14: 12,301,266 (GRCm38)	E124G	possibly damaging	Het
Clip2	T	A	5: 134,564,069 (GRCm39)		probably benign	Het
Cmip	T	C	8: 118,172,105 (GRCm39)	I480T	probably damaging	Het
Cnot1	A	T	8: 96,498,628 (GRCm39)	I203K	probably benign	Het
Col18a1	G	A	10: 76,895,197 (GRCm39)	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,364,503 (GRCm39)	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,071,860 (GRCm39)	I935F	probably damaging	Het
Dapl1	T	A	2: 59,326,938 (GRCm39)	D61E	possibly damaging	Het
Def6	A	G	17: 28,447,043 (GRCm39)	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,046,382 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,891,861 (GRCm39)		probably benign	Het
Ecd	A	C	14: 20,370,802 (GRCm39)	V639G	probably benign	Het
Epg5	C	T	18: 78,029,687 (GRCm39)	T1350M	probably benign	Het
Erbb4	C	A	1: 68,298,418 (GRCm39)	M657I	probably benign	Het
Evi5	T	C	5: 107,960,277 (GRCm39)	R431G	probably benign	Het
Fbxo11	G	A	17: 88,323,041 (GRCm39)	A115V	possibly damaging	Het
Fgfr2	T	C	7: 129,797,979 (GRCm39)	T192A	probably benign	Het
Gas7	C	T	11: 67,552,878 (GRCm39)	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048 (GRCm39)	Q41H	probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm7535	A	G	17: 18,131,374 (GRCm39)		probably benign	Het
Gstm1	T	A	3: 107,920,012 (GRCm39)	N193I	possibly damaging	Het
Heatr5b	G	A	17: 79,135,375 (GRCm39)	P252L	probably benign	Het
Hmgb1	A	G	5: 148,987,441 (GRCm39)	V36A	probably benign	Het
Hrh1	G	T	6: 114,457,193 (GRCm39)	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,370,294 (GRCm39)	M53V	probably benign	Het
Iqgap2	T	A	13: 95,772,141 (GRCm39)	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,895,166 (GRCm39)	N433K	possibly damaging	Het
Kif1a	T	A	1: 92,980,288 (GRCm39)		probably benign	Het
Lctl	C	A	9: 64,026,169 (GRCm39)	Q75K	probably benign	Het
Ldb3	T	A	14: 34,300,608 (GRCm39)	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,584,378 (GRCm39)	L156Q	probably damaging	Het
Mark2	G	T	19: 7,259,193 (GRCm39)	T83K	probably benign	Het
Ms4a15	A	T	19: 10,957,574 (GRCm39)	D170E	probably damaging	Het
Msantd2	A	G	9: 37,434,056 (GRCm39)	S99G	possibly damaging	Het
Nemf	G	T	12: 69,400,577 (GRCm39)	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,093,561 (GRCm39)	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,962,116 (GRCm39)	I567V	probably benign	Het
Or11l3	T	C	11: 58,516,566 (GRCm39)	Y102C	probably damaging	Het
Or13p8	A	G	4: 118,584,367 (GRCm39)	I308V	probably null	Het
Or5v1b	A	C	17: 37,841,533 (GRCm39)	I222L	probably benign	Het
Or7g16	T	A	9: 18,727,290 (GRCm39)	Q100L	probably damaging	Het
Pdk4	T	C	6: 5,491,138 (GRCm39)	E209G	probably benign	Het
Plch1	T	C	3: 63,618,399 (GRCm39)	Q712R	probably damaging	Het
Pnpla1	T	A	17: 29,105,852 (GRCm39)	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,596,457 (GRCm39)	D134V	probably damaging	Het
Ptov1	T	A	7: 44,514,046 (GRCm39)	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,544,589 (GRCm39)	I314V	probably benign	Het
Rabl2	T	C	15: 89,468,169 (GRCm39)	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507 (GRCm39)	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,512,435 (GRCm39)	W191R	probably damaging	Het
Sec22b	T	A	3: 97,828,572 (GRCm39)	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Septin2	T	C	1: 93,423,321 (GRCm39)	S51P	probably damaging	Het
Serpinb1a	T	C	13: 33,032,639 (GRCm39)	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,574,208 (GRCm39)	T206I	probably benign	Het
Slc25a19	C	A	11: 115,515,032 (GRCm39)	R42L	probably damaging	Het
St14	G	A	9: 31,002,620 (GRCm39)		probably benign	Het
Stxbp1	C	T	2: 32,692,917 (GRCm39)		probably benign	Het
Tas2r131	C	T	6: 132,934,792 (GRCm39)	V6I	probably benign	Het
Tdo2	T	A	3: 81,871,307 (GRCm39)	M235L	probably benign	Het
Tenm3	T	G	8: 48,685,140 (GRCm39)	H2432P	probably damaging	Het
Tmprss15	C	T	16: 78,821,630 (GRCm39)		probably benign	Het
Tmx1	A	G	12: 70,500,030 (GRCm39)	N30D	probably benign	Het
Tom1	A	G	8: 75,791,020 (GRCm39)		probably null	Het
Top2a	T	C	11: 98,913,781 (GRCm39)	N20S	probably benign	Het
Ttc23l	T	A	15: 10,540,049 (GRCm39)	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983 (GRCm39)	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,641 (GRCm39)	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,945,317 (GRCm39)		probably null	Het
Vps11	T	C	9: 44,265,135 (GRCm39)	Q641R	probably null	Het
Wapl	T	A	14: 34,414,281 (GRCm39)	I381N	probably damaging	Het
Zmym6	G	A	4: 127,016,601 (GRCm39)	G794E	probably damaging	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
R0390:Optn	UTSW	2	5,051,006 (GRCm39)	missense	probably benign
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'- CGATTCAGGTCAGCTAACAGACGC -3'
(R):5'- GGGTCAGTTTTCTTATGAAGGTCAGCC -3'

Sequencing Primer
(F):5'- TACTACCTGGCTGCGAGAG -3'
(R):5'- CATGTGGTTTTGACTTGTTTCCC -3'

Posted On

2013-04-16