Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Optn'

702147

Institutional Source

Beutler Lab

Gene Symbol

Optn

Ensembl Gene

ENSMUSG00000026672

Gene Name

optineurin

Synonyms

TFIIIA-INTP, 4930441O07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R9260 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5020642-5064051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5040265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 222 (C222Y)

Ref Sequence

ENSEMBL: ENSMUSP00000027986 (fasta)

Gene Model

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

AlphaFold

Q8K3K8

Predicted Effect

probably benign
Transcript: ENSMUST00000027986
AA Change: C222Y

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

SMART Domains

Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: C222Y

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: C222Y

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

SMART Domains

Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: C222Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,431,316	H369Q	unknown	Het
Atp1a4	A	G	1: 172,246,792	I298T	probably damaging	Het
Bmper	T	A	9: 23,406,720	L545H	probably benign	Het
Cacnb3	A	G	15: 98,639,557	S39G	probably benign	Het
Casr	T	C	16: 36,509,964	K336R	probably benign	Het
Ccdc141	C	A	2: 77,014,451	G1424V	probably damaging	Het
Cd101	A	T	3: 101,013,283	D437E	probably benign	Het
Chadl	A	G	15: 81,693,857	S524P	probably damaging	Het
Clec4a4	C	T	6: 123,023,936	R203*	probably null	Het
Cntnap4	A	G	8: 112,773,644	I523V	probably benign	Het
Cpb1	T	A	3: 20,262,474	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,806,897	S229R	possibly damaging	Het
Dnajc15	A	G	14: 77,844,399	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,314,798	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,719,250	V675A	probably benign	Het
F10	G	A	8: 13,055,638	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,587,525	L206F	probably damaging	Het
Frem2	G	C	3: 53,652,783	S1434R	probably damaging	Het
Gli3	G	T	13: 15,725,090	V1021F	probably damaging	Het
Gm7168	A	T	17: 13,949,226	N285I	probably benign	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Herc1	T	A	9: 66,418,409	C1388*	probably null	Het
Hfe2	T	A	3: 96,528,263	I279N	probably damaging	Het
Igfn1	T	C	1: 135,979,956	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,335,117	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,260,473	I95F	probably damaging	Het
Il31ra	A	T	13: 112,531,668	S456T	probably damaging	Het
Ints3	T	C	3: 90,401,161	D610G	probably damaging	Het
Iqcg	G	A	16: 33,035,603	Q201*	probably null	Het
Kat14	T	A	2: 144,393,521	D300E	probably benign	Het
Kbtbd13	T	C	9: 65,391,570	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,323,071	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,394,775	T595A	probably benign	Het
Lct	C	T	1: 128,299,967	W1263*	probably null	Het
Lexm	T	C	4: 106,615,437	K84E	probably benign	Het
Micall2	T	A	5: 139,709,698	M905L	unknown	Het
Mobp	A	G	9: 120,168,506	T164A	unknown	Het
Mtrr	T	C	13: 68,580,555	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,851,518	W888R	unknown	Het
Myh7	G	A	14: 54,987,385	A575V	probably damaging	Het
Nbea	A	C	3: 55,983,812	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,143,242		probably null	Het
Nsun4	T	C	4: 116,044,810	Y153C	probably damaging	Het
Nup210	A	G	6: 91,062,803	I690T	probably benign	Het
Oaz1	T	A	10: 80,826,769	S4T	possibly damaging	Het
Olfr1293-ps	T	A	2: 111,527,926	V222E		Het
Olfr19	A	T	16: 16,673,473	C169*	probably null	Het
Olfr201	T	C	16: 59,269,314	M118V	probably damaging	Het
Olfr266	A	G	3: 106,822,194	S122P	probably damaging	Het
Olfr813	G	A	10: 129,856,589	V24M	probably benign	Het
Osmr	T	A	15: 6,852,552	H37L	probably benign	Het
Pccb	G	T	9: 100,995,590	P287Q	probably benign	Het
Pclo	T	A	5: 14,714,273	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,697,504		probably null	Het
Pde9a	T	C	17: 31,459,163		probably null	Het
Pdk2	C	A	11: 95,039,434	V59F	probably damaging	Het
Pgm2	T	A	4: 99,969,989	V362E	probably damaging	Het
Pmepa1	CCGGCGGCGGCGGCGGCGG	CCGGCGGCGGCGGCGG	2: 173,276,150		probably benign	Het
Pold4	T	C	19: 4,232,850	F97S	possibly damaging	Het
Ppp5c	C	T	7: 17,006,961	V361I	probably benign	Het
Prrt1	A	G	17: 34,631,146	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,625,576	I84F	probably damaging	Het
Smg7	A	G	1: 152,861,798	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,236,508	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,605,597	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,686,620	G109R	possibly damaging	Het
Thap12	C	T	7: 98,707,073	R56*	probably null	Het
Ttn	T	C	2: 76,815,575	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Uqcrfs1	G	A	13: 30,541,125	A144V	probably damaging	Het
Wdr19	T	A	5: 65,206,446	D67E	possibly damaging	Het
Zkscan3	A	T	13: 21,394,040	W226R	probably damaging	Het
Zmym5	A	C	14: 56,804,184	F154C	probably damaging	Het

Other mutations in Optn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Optn	APN	2	5033156	missense	possibly damaging	0.93
IGL01433:Optn	APN	2	5027144	missense	probably benign	0.07
IGL01480:Optn	APN	2	5046018	missense	probably benign	0.01
IGL01863:Optn	APN	2	5021487	splice site	probably benign
IGL02108:Optn	APN	2	5031273	missense	possibly damaging	0.91
IGL02150:Optn	APN	2	5033152	missense	probably damaging	0.97
IGL02623:Optn	APN	2	5035022	missense	probably damaging	1.00
R0119:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R0121:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R0330:Optn	UTSW	2	5034255	missense	possibly damaging	0.53
R0332:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R0335:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R0390:Optn	UTSW	2	5046195	missense	probably benign
R0437:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R1710:Optn	UTSW	2	5053130	missense	possibly damaging	0.90
R2229:Optn	UTSW	2	5024117	missense	probably damaging	1.00
R3237:Optn	UTSW	2	5034203	missense	probably damaging	1.00
R3740:Optn	UTSW	2	5034198	missense	possibly damaging	0.51
R3741:Optn	UTSW	2	5034198	missense	possibly damaging	0.51
R4667:Optn	UTSW	2	5033139	missense	probably benign	0.20
R4783:Optn	UTSW	2	5054627	missense	probably benign
R4965:Optn	UTSW	2	5021379	missense	probably benign	0.14
R5121:Optn	UTSW	2	5046106	missense	probably benign	0.25
R6119:Optn	UTSW	2	5021323	splice site	probably null
R7024:Optn	UTSW	2	5052837	splice site	probably null
R7167:Optn	UTSW	2	5042483	missense	probably benign	0.00
R7685:Optn	UTSW	2	5054650	missense	probably benign	0.01
R8103:Optn	UTSW	2	5040202	missense	probably damaging	0.97
R8267:Optn	UTSW	2	5054651	missense	probably benign	0.00
R8844:Optn	UTSW	2	5027112	critical splice donor site	probably null
R9082:Optn	UTSW	2	5054640	missense	probably damaging	1.00
R9141:Optn	UTSW	2	5054674	missense	possibly damaging	0.93
R9238:Optn	UTSW	2	5053140	missense	probably damaging	1.00
R9287:Optn	UTSW	2	5031315	missense	probably damaging	0.98
R9426:Optn	UTSW	2	5054674	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCCTAAGATGTACTGTGGCAGAG -3'
(R):5'- GCGTACAAGGATTGGCTCAG -3'

Sequencing Primer
(F):5'- TGCACTGCCTCACATGGTG -3'
(R):5'- ACAAGGATTGGCTCAGCTGTG -3'

Posted On

2022-03-25