Incidental Mutation 'R7167:Optn'
ID 557964
Institutional Source Beutler Lab
Gene Symbol Optn
Ensembl Gene ENSMUSG00000026672
Gene Name optineurin
Synonyms TFIIIA-INTP, 4930441O07Rik
MMRRC Submission 045228-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R7167 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 5025453-5068862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5047294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 207 (N207S)
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: N207S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: N207S

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
AA Change: N207S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: N207S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (65/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,624,930 (GRCm39) V436A probably benign Het
Abcc5 T C 16: 20,224,251 (GRCm39) T111A possibly damaging Het
Acsbg2 T A 17: 57,164,000 (GRCm39) D203V probably benign Het
Alpk2 G T 18: 65,440,049 (GRCm39) T448K probably benign Het
Arhgef2 A G 3: 88,551,179 (GRCm39) N780S possibly damaging Het
Atxn2l T C 7: 126,098,394 (GRCm39) N252S possibly damaging Het
Bmpr1b A T 3: 141,568,841 (GRCm39) L163Q probably benign Het
Clca3a2 T C 3: 144,803,545 (GRCm39) R100G probably benign Het
Col2a1 A G 15: 97,898,337 (GRCm39) I79T unknown Het
Csmd1 A G 8: 15,976,524 (GRCm39) V2898A probably benign Het
Cux1 G A 5: 136,338,895 (GRCm39) probably null Het
Cyp2u1 A G 3: 131,096,773 (GRCm39) S2P probably benign Het
Daam1 C A 12: 72,035,678 (GRCm39) H958N probably damaging Het
Dnah7a C T 1: 53,542,935 (GRCm39) V2412I probably benign Het
Ergic2 T C 6: 148,108,133 (GRCm39) R2G probably damaging Het
Fat2 T C 11: 55,175,827 (GRCm39) T1629A possibly damaging Het
Ftl1 T A 7: 45,109,202 (GRCm39) probably benign Het
Fut8 T C 12: 77,495,406 (GRCm39) V332A possibly damaging Het
Gm28363 T C 1: 117,655,119 (GRCm39) S113P probably damaging Het
Hfe A T 13: 23,892,052 (GRCm39) V104E probably damaging Het
Ifih1 A T 2: 62,429,240 (GRCm39) N899K probably benign Het
Krt75 A G 15: 101,476,750 (GRCm39) S380P possibly damaging Het
Meiob T G 17: 25,055,419 (GRCm39) F409V probably damaging Het
Mkrn2os A T 6: 115,562,474 (GRCm39) I163N probably damaging Het
Nanos1 G T 19: 60,745,046 (GRCm39) G115W probably damaging Het
Naprt C T 15: 75,764,461 (GRCm39) A276T probably damaging Het
Oas1e G T 5: 120,933,487 (GRCm39) T26N probably benign Het
Oog2 T G 4: 143,921,745 (GRCm39) D218E probably benign Het
Or13a20 T A 7: 140,232,466 (GRCm39) C191* probably null Het
Or1l8 T C 2: 36,817,533 (GRCm39) I198V probably benign Het
Or4g16 T C 2: 111,136,793 (GRCm39) M81T probably benign Het
Or4p18 A G 2: 88,232,552 (GRCm39) V242A possibly damaging Het
Or6c63-ps1 T G 10: 128,899,141 (GRCm39) Q245P probably damaging Het
Or6c66b T C 10: 129,376,607 (GRCm39) L67P possibly damaging Het
Or8g4 T C 9: 39,661,865 (GRCm39) F61S probably damaging Het
Oxnad1 G T 14: 31,822,976 (GRCm39) E236* probably null Het
Pcdha3 G A 18: 37,080,046 (GRCm39) A263T probably damaging Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Pip5k1b T A 19: 24,374,433 (GRCm39) E49D probably benign Het
Plau C A 14: 20,889,518 (GRCm39) F194L possibly damaging Het
Ppm1n A G 7: 19,013,666 (GRCm39) L95S probably damaging Het
Pramel40 G A 5: 94,464,984 (GRCm39) A457T possibly damaging Het
Radil G T 5: 142,471,260 (GRCm39) probably null Het
Ralgapa2 C T 2: 146,190,374 (GRCm39) M1266I probably benign Het
Reln A T 5: 22,147,618 (GRCm39) L2444Q probably damaging Het
Rims2 T C 15: 39,300,473 (GRCm39) V260A probably benign Het
Rnase2b T A 14: 51,400,222 (GRCm39) V101E probably damaging Het
Rtp3 T A 9: 110,815,772 (GRCm39) T198S probably benign Het
Shisal2b A G 13: 105,000,166 (GRCm39) V19A probably damaging Het
Smad3 T A 9: 63,573,435 (GRCm39) D201V probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spata7 T G 12: 98,630,555 (GRCm39) F371C probably damaging Het
Stag1 T G 9: 100,827,942 (GRCm39) N990K probably benign Het
Tbx18 C T 9: 87,589,883 (GRCm39) A352T probably damaging Het
Thada C T 17: 84,538,391 (GRCm39) R1539Q probably benign Het
Thrap3 A C 4: 126,078,920 (GRCm39) probably benign Het
Tnks G A 8: 35,316,458 (GRCm39) T887M probably damaging Het
Trap1 A C 16: 3,870,792 (GRCm39) V393G probably damaging Het
Trpm4 A G 7: 44,977,143 (GRCm39) probably null Het
Trrap G T 5: 144,776,424 (GRCm39) G3007C probably benign Het
U2surp A T 9: 95,363,726 (GRCm39) N611K probably damaging Het
Usp12 A G 5: 146,705,745 (GRCm39) probably null Het
Vmn1r200 A G 13: 22,579,487 (GRCm39) T97A possibly damaging Het
Vmn2r110 C T 17: 20,794,441 (GRCm39) V743I probably benign Het
Vps50 C T 6: 3,600,256 (GRCm39) T905M probably damaging Het
Wdr48 T A 9: 119,736,855 (GRCm39) probably null Het
Zfp446 C T 7: 12,712,049 (GRCm39) probably benign Het
Zfr T C 15: 12,181,015 (GRCm39) S1012P probably benign 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
R6119:Optn UTSW 2 5,026,134 (GRCm39) splice site probably null
R7024:Optn UTSW 2 5,057,648 (GRCm39) splice site probably null
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'- AGAGGTGGGCATTTGTCAGC -3'
(R):5'- CATTTGAGTGACCCAATTTAGATCC -3'

Sequencing Primer
(F):5'- GGGCATTTGTCAGCCTTTAAAAG -3'
(R):5'- CCTATCTCATACAAAGGCTGAGTGAG -3'
Posted On 2019-06-26