Incidental Mutation 'R9426:Optn'
ID 712607
Institutional Source Beutler Lab
Gene Symbol Optn
Ensembl Gene ENSMUSG00000026672
Gene Name optineurin
Synonyms TFIIIA-INTP, 4930441O07Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R9426 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 5025453-5068862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5059485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 11 (E11V)
Ref Sequence ENSEMBL: ENSMUSP00000027986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027986] [ENSMUST00000114996]
AlphaFold Q8K3K8
Predicted Effect possibly damaging
Transcript: ENSMUST00000027986
AA Change: E11V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: E11V

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 possibly damaging
Transcript: ENSMUST00000114996
AA Change: E11V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: E11V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,851,264 (GRCm39) D2159G possibly damaging Het
Adamts8 A G 9: 30,864,721 (GRCm39) Y404C possibly damaging Het
Adprhl1 A G 8: 13,274,034 (GRCm39) F908S possibly damaging Het
Arhgef16 A C 4: 154,366,300 (GRCm39) L489R probably damaging Het
Asmt G A X: 169,110,199 (GRCm39) G236E probably damaging Het
Ces2e A G 8: 105,656,220 (GRCm39) Y177C probably damaging Het
Cfap43 A G 19: 47,814,237 (GRCm39) I199T probably damaging Het
Chac1 T A 2: 119,183,914 (GRCm39) F172Y possibly damaging Het
Cldnd2 A T 7: 43,092,688 (GRCm39) I160F possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Coq10b C G 1: 55,106,719 (GRCm39) L175V possibly damaging Het
Cpne6 T C 14: 55,751,176 (GRCm39) probably null Het
Dnai4 A T 4: 102,906,743 (GRCm39) I690N probably damaging Het
Eif2b3 C A 4: 116,923,578 (GRCm39) Y264* probably null Het
Fcgbpl1 A T 7: 27,843,281 (GRCm39) H723L possibly damaging Het
Fhod1 C T 8: 106,056,490 (GRCm39) R1100Q probably benign Het
Hao1 T A 2: 134,347,555 (GRCm39) H250L probably benign Het
Has3 A G 8: 107,600,823 (GRCm39) Y95C probably damaging Het
Hoxc10 A T 15: 102,879,289 (GRCm39) K270* probably null Het
Kcnq5 A G 1: 21,473,118 (GRCm39) F710L probably benign Het
Knl1 C T 2: 118,899,979 (GRCm39) T560I possibly damaging Het
Ltbp1 C T 17: 75,598,309 (GRCm39) R597W possibly damaging Het
Nfib T G 4: 82,416,529 (GRCm39) T170P probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or4d2b A T 11: 87,780,056 (GRCm39) L222Q probably damaging Het
Phf3 A T 1: 30,870,625 (GRCm39) L141* probably null Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prkcg C T 7: 3,375,975 (GRCm39) S540F probably damaging Het
Ptbp1 T A 10: 79,694,897 (GRCm39) I75N probably damaging Het
R3hdm1 T C 1: 128,164,212 (GRCm39) L1042P probably damaging Het
Scmh1 T C 4: 120,362,556 (GRCm39) V264A probably benign Het
Sec23a A G 12: 59,053,890 (GRCm39) V36A probably benign Het
Senp2 A G 16: 21,828,491 (GRCm39) S34G probably damaging Het
Serpina3a A G 12: 104,087,649 (GRCm39) N191D probably benign Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smchd1 C T 17: 71,672,125 (GRCm39) S1643N probably benign Het
Snrk T A 9: 121,986,326 (GRCm39) Y232N probably damaging Het
Spata31h1 T A 10: 82,126,610 (GRCm39) K2133N probably damaging Het
Spmip3 T A 1: 177,570,834 (GRCm39) L56* probably null Het
St6galnac6 T C 2: 32,505,094 (GRCm39) I202T probably damaging Het
Stab2 T C 10: 86,704,911 (GRCm39) K1819R probably damaging Het
Strn3 T C 12: 51,694,873 (GRCm39) T297A probably damaging Het
Sult1b1 T A 5: 87,665,280 (GRCm39) E218V probably damaging Het
Tcp10c T C 17: 13,584,463 (GRCm39) S275P probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Urb2 T G 8: 124,755,285 (GRCm39) L331V probably damaging Het
Zfp592 A T 7: 80,674,205 (GRCm39) T390S probably 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
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
R9787:Optn UTSW 2 5,036,150 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAGGCCTTCAGAAGAGATTG -3'
(R):5'- TTGCATGGTCTGGTGAAGCC -3'

Sequencing Primer
(F):5'- CCTTCAGAAGAGATTGTGTTTCC -3'
(R):5'- CTGGATGTTTAAAGAGAACACCTC -3'
Posted On 2022-05-16