Mutagenetix > Incidental Mutation

Incidental Mutation 'R2229:Optn'

239569

Institutional Source

Beutler Lab

Gene Symbol

Optn

Ensembl Gene

ENSMUSG00000026672

Gene Name

optineurin

Synonyms

TFIIIA-INTP, 4930441O07Rik

MMRRC Submission

040230-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R2229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5020642-5064051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5024117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 525 (H525L)

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: H525L

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

SMART Domains

Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: H525L

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: H525L

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

SMART Domains

Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: H525L

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

0.6176

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (78/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 40,680,365 (GRCm38)	I291L	probably benign	Het
Adcy8	C	A	15: 64,822,207 (GRCm38)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,436,051 (GRCm38)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,752,403 (GRCm38)	S350N	probably benign	Het
Agbl1	A	G	7: 76,433,378 (GRCm38)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,583,186 (GRCm38)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,547,973 (GRCm38)	N18K	probably damaging	Het
Atp6v1b2	C	A	8: 69,102,759 (GRCm38)		probably null	Het
Banp	G	A	8: 121,978,685 (GRCm38)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,169,118 (GRCm38)	D601G	probably damaging	Het
C9	T	C	15: 6,445,420 (GRCm38)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,685,804 (GRCm38)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,808,054 (GRCm38)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm38)		probably null	Het
Cdc5l	A	G	17: 45,407,846 (GRCm38)	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 134,074,526 (GRCm38)		probably benign	Het
Eml4	C	T	17: 83,451,056 (GRCm38)	P502S	probably benign	Het
Fsip1	T	C	2: 118,222,444 (GRCm38)	E367G	probably benign	Het
Gja3	T	C	14: 57,036,714 (GRCm38)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,274,190 (GRCm38)		probably benign	Het
Gm7853	A	G	14: 36,089,527 (GRCm38)		noncoding transcript	Het
Gmps	T	G	3: 64,014,263 (GRCm38)	Y562*	probably null	Het
Golga2	C	A	2: 32,306,465 (GRCm38)	P976T	probably benign	Het
Gpr182	T	A	10: 127,750,141 (GRCm38)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,626,795 (GRCm38)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,695,267 (GRCm38)	T516A	probably benign	Het
Hist2h2ab	T	C	3: 96,220,106 (GRCm38)	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,619,230 (GRCm38)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,333,496 (GRCm38)	S920P	probably damaging	Het
Kif3c	T	A	12: 3,366,671 (GRCm38)	S231T	probably benign	Het
Kpna7	A	T	5: 144,989,697 (GRCm38)	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,904,392 (GRCm38)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm38)	S121G	probably benign	Het
Mppe1	A	G	18: 67,228,011 (GRCm38)		probably null	Het
Muc5b	T	A	7: 141,861,644 (GRCm38)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,308,348 (GRCm38)	N1893K	probably damaging	Het
Myo7a	T	C	7: 98,054,910 (GRCm38)	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm38)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,455,934 (GRCm38)		probably null	Het
Nek5	A	T	8: 22,113,632 (GRCm38)	N151K	possibly damaging	Het
Nup93	C	T	8: 94,304,191 (GRCm38)	T305I	probably benign	Het
Oca2	T	A	7: 56,357,155 (GRCm38)	H663Q	probably benign	Het
Pdzph1	A	G	17: 58,932,412 (GRCm38)		probably benign	Het
Pikfyve	A	G	1: 65,267,855 (GRCm38)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,430,329 (GRCm38)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,228,133 (GRCm38)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,733,698 (GRCm38)	R224L	probably benign	Het
Prpf19	A	G	19: 10,897,598 (GRCm38)	T39A	probably benign	Het
Pwwp2b	T	C	7: 139,255,188 (GRCm38)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,425,377 (GRCm38)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,822,358 (GRCm38)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,851,020 (GRCm38)	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,809,299 (GRCm38)	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm38)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,488,341 (GRCm38)		probably benign	Het
Spata18	A	T	5: 73,666,901 (GRCm38)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,174,453 (GRCm38)		probably null	Het
Tas2r104	G	A	6: 131,685,132 (GRCm38)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,832,177 (GRCm38)		probably benign	Het
Tex15	C	A	8: 33,571,237 (GRCm38)	H232N	probably benign	Het
Tg	A	T	15: 66,674,011 (GRCm38)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,644,776 (GRCm38)		probably null	Het
Trim25	T	A	11: 89,016,621 (GRCm38)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,983,063 (GRCm38)	E54G	probably damaging	Het
Ttn	T	C	2: 76,729,324 (GRCm38)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,830,881 (GRCm38)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Usp13	A	G	3: 32,917,551 (GRCm38)	I727V	probably benign	Het
Vmn2r67	T	A	7: 85,152,042 (GRCm38)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,167,392 (GRCm38)	I220L	probably benign	Het
Wnk4	T	A	11: 101,275,641 (GRCm38)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm38)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,690,213 (GRCm38)	I540T	probably damaging	Het
Zfp729b	T	C	13: 67,595,265 (GRCm38)	I60M	probably damaging	Het

Other mutations in Optn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Optn	APN	2	5,033,156 (GRCm38)	missense	possibly damaging	0.93
IGL01433:Optn	APN	2	5,027,144 (GRCm38)	missense	probably benign	0.07
IGL01480:Optn	APN	2	5,046,018 (GRCm38)	missense	probably benign	0.01
IGL01863:Optn	APN	2	5,021,487 (GRCm38)	splice site	probably benign
IGL02108:Optn	APN	2	5,031,273 (GRCm38)	missense	possibly damaging	0.91
IGL02150:Optn	APN	2	5,033,152 (GRCm38)	missense	probably damaging	0.97
IGL02623:Optn	APN	2	5,035,022 (GRCm38)	missense	probably damaging	1.00
R0119:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R0121:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R0330:Optn	UTSW	2	5,034,255 (GRCm38)	missense	possibly damaging	0.53
R0332:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R0335:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R0390:Optn	UTSW	2	5,046,195 (GRCm38)	missense	probably benign
R0437:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R1710:Optn	UTSW	2	5,053,130 (GRCm38)	missense	possibly damaging	0.90
R3237:Optn	UTSW	2	5,034,203 (GRCm38)	missense	probably damaging	1.00
R3740:Optn	UTSW	2	5,034,198 (GRCm38)	missense	possibly damaging	0.51
R3741:Optn	UTSW	2	5,034,198 (GRCm38)	missense	possibly damaging	0.51
R4667:Optn	UTSW	2	5,033,139 (GRCm38)	missense	probably benign	0.20
R4783:Optn	UTSW	2	5,054,627 (GRCm38)	missense	probably benign
R4965:Optn	UTSW	2	5,021,379 (GRCm38)	missense	probably benign	0.14
R5121:Optn	UTSW	2	5,046,106 (GRCm38)	missense	probably benign	0.25
R6119:Optn	UTSW	2	5,021,323 (GRCm38)	splice site	probably null
R7024:Optn	UTSW	2	5,052,837 (GRCm38)	splice site	probably null
R7167:Optn	UTSW	2	5,042,483 (GRCm38)	missense	probably benign	0.00
R7685:Optn	UTSW	2	5,054,650 (GRCm38)	missense	probably benign	0.01
R8103:Optn	UTSW	2	5,040,202 (GRCm38)	missense	probably damaging	0.97
R8267:Optn	UTSW	2	5,054,651 (GRCm38)	missense	probably benign	0.00
R8844:Optn	UTSW	2	5,027,112 (GRCm38)	critical splice donor site	probably null
R9082:Optn	UTSW	2	5,054,640 (GRCm38)	missense	probably damaging	1.00
R9141:Optn	UTSW	2	5,054,674 (GRCm38)	missense	possibly damaging	0.93
R9238:Optn	UTSW	2	5,053,140 (GRCm38)	missense	probably damaging	1.00
R9260:Optn	UTSW	2	5,040,265 (GRCm38)	missense	probably benign
R9287:Optn	UTSW	2	5,031,315 (GRCm38)	missense	probably damaging	0.98
R9426:Optn	UTSW	2	5,054,674 (GRCm38)	missense	possibly damaging	0.93
R9787:Optn	UTSW	2	5,031,339 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGAATGAAATGAGAGGCTCTC -3'
(R):5'- TGTCCTGGTACTCATAGTTGC -3'

Sequencing Primer
(F):5'- CTCTCAGGGGCTGACTTCTG -3'
(R):5'- AGAGCCTTGTGCATGCTAGC -3'

Posted On

2014-10-15