Incidental Mutation 'R6119:Optn'
ID 485635
Institutional Source Beutler Lab
Gene Symbol Optn
Ensembl Gene ENSMUSG00000026672
Gene Name optineurin
Synonyms TFIIIA-INTP, 4930441O07Rik
MMRRC Submission 044429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R6119 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 5025453-5068862 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 5026134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027986] [ENSMUST00000114996]
AlphaFold Q8K3K8
Predicted Effect probably null
Transcript: ENSMUST00000027986
SMART Domains Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672

DomainStartEndE-ValueType
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging Het
Other mutations in Optn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AAACACTGGCTGGCTTATGTG -3'
(R):5'- GTGGCTAAGTCCAAAGTGCTC -3'

Sequencing Primer
(F):5'- GGAAGGGTGCTAATTAGATTCCTC -3'
(R):5'- TGGCTGACGGCACTTGTC -3'
Posted On 2017-08-16