Incidental Mutation 'R8103:Optn'
ID 630551
Institutional Source Beutler Lab
Gene Symbol Optn
Ensembl Gene ENSMUSG00000026672
Gene Name optineurin
Synonyms TFIIIA-INTP, 4930441O07Rik
MMRRC Submission 067534-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R8103 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 5025453-5068862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5045013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 243 (C243F)
Ref Sequence ENSEMBL: ENSMUSP00000027986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027986] [ENSMUST00000114996]
AlphaFold Q8K3K8
Predicted Effect probably damaging
Transcript: ENSMUST00000027986
AA Change: C243F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: C243F

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 damaging
Transcript: ENSMUST00000114996
AA Change: C243F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: C243F

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: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.4%
Validation Efficiency 100% (83/83)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,668 (GRCm39) D216G probably benign Het
Abcg5 A T 17: 84,965,956 (GRCm39) I640K possibly damaging Het
Acadvl T C 11: 69,905,168 (GRCm39) K128R probably benign Het
Angptl7 T A 4: 148,581,018 (GRCm39) N259I probably damaging Het
Ankrd35 A G 3: 96,586,997 (GRCm39) K104R possibly damaging Het
Antxr1 T C 6: 87,165,198 (GRCm39) N413S probably damaging Het
Arhgap26 A G 18: 39,504,177 (GRCm39) T376A Het
Atf6b T G 17: 34,872,949 (GRCm39) S622A probably damaging Het
Atp5pd T A 11: 115,306,851 (GRCm39) Y115F possibly damaging Het
Axin2 T C 11: 108,822,369 (GRCm39) L307P probably damaging Het
B4galnt4 C T 7: 140,644,564 (GRCm39) T153M possibly damaging Het
Brd8 A G 18: 34,740,231 (GRCm39) V604A probably benign Het
Ccser2 T C 14: 36,618,240 (GRCm39) Y765C probably damaging Het
Cdh26 A G 2: 178,110,006 (GRCm39) D433G probably damaging Het
Cep85l T G 10: 53,175,420 (GRCm39) probably null Het
Ciao3 A G 17: 25,996,395 (GRCm39) T135A probably benign Het
Col23a1 T A 11: 51,461,014 (GRCm39) probably null Het
Col7a1 A G 9: 108,804,452 (GRCm39) D2261G unknown Het
Comp C A 8: 70,833,936 (GRCm39) N650K probably damaging Het
Copb1 A G 7: 113,834,202 (GRCm39) M476T possibly damaging Het
Dapk1 T A 13: 60,897,009 (GRCm39) S743T probably damaging Het
Ddx39a A G 8: 84,451,105 (GRCm39) probably null Het
Dgkb A G 12: 38,186,580 (GRCm39) H243R probably damaging Het
Dsg1c T G 18: 20,416,171 (GRCm39) Y691D probably damaging Het
Duox2 C T 2: 122,117,535 (GRCm39) S933N probably benign Het
Ece1 T C 4: 137,641,133 (GRCm39) S19P probably benign Het
Edem1 G A 6: 108,829,524 (GRCm39) E548K probably damaging Het
Eif4a3l2 C T 6: 116,528,468 (GRCm39) T115I probably damaging Het
Fpr-rs6 A G 17: 20,402,839 (GRCm39) V174A possibly damaging Het
Fyco1 A T 9: 123,658,453 (GRCm39) N574K probably benign Het
Glb1l2 T A 9: 26,676,980 (GRCm39) M551L probably benign Het
Gm7694 G T 1: 170,130,284 (GRCm39) P38Q probably damaging Het
Grip1 A G 10: 119,814,440 (GRCm39) T324A probably benign Het
Htr3b A G 9: 48,857,849 (GRCm39) V131A possibly damaging Het
Igfbp1 T C 11: 7,148,106 (GRCm39) C50R probably damaging Het
Il5ra A G 6: 106,692,611 (GRCm39) I378T possibly damaging Het
Ints11 T C 4: 155,972,687 (GRCm39) L504P possibly damaging Het
Iqca1 A T 1: 89,987,330 (GRCm39) I74N Het
Kbtbd12 C T 6: 88,595,663 (GRCm39) A56T probably damaging Het
Kcnq5 T C 1: 21,549,620 (GRCm39) N369S possibly damaging Het
Kmt5b A G 19: 3,865,381 (GRCm39) D815G probably benign Het
Lnpk T C 2: 74,352,599 (GRCm39) Q361R probably benign Het
Mep1b T C 18: 21,222,442 (GRCm39) I277T possibly damaging Het
Naip6 G A 13: 100,437,851 (GRCm39) T385I probably benign Het
Npepl1 A T 2: 173,953,002 (GRCm39) I95F probably benign Het
Nxpe4 T C 9: 48,304,020 (GRCm39) F36L probably benign Het
Or10al7 A T 17: 38,365,903 (GRCm39) C185S probably damaging Het
Or1e33 C T 11: 73,738,735 (GRCm39) C72Y probably damaging Het
Paqr7 T C 4: 134,234,821 (GRCm39) V226A probably benign Het
Pcdh12 T A 18: 38,415,212 (GRCm39) I638F probably damaging Het
Pfas T C 11: 68,883,119 (GRCm39) T722A probably damaging Het
Pkhd1 T A 1: 20,270,981 (GRCm39) I3191F probably damaging Het
Plxnc1 T A 10: 94,706,944 (GRCm39) H531L probably benign Het
Pom121l2 A G 13: 22,166,544 (GRCm39) T272A probably benign Het
Pparg T C 6: 115,450,102 (GRCm39) V367A possibly damaging Het
Psen2 A T 1: 180,068,356 (GRCm39) M99K probably damaging Het
Ranbp10 T C 8: 106,499,179 (GRCm39) T536A probably benign Het
Rbfox2 G T 15: 76,983,654 (GRCm39) P284T probably damaging Het
Rbmyf9 C T Y: 3,776,675 (GRCm39) T104I possibly damaging Het
Rere G A 4: 150,701,796 (GRCm39) R25H probably damaging Het
Rhpn1 T A 15: 75,581,115 (GRCm39) L119Q probably null Het
Rlig1 C A 10: 100,413,110 (GRCm39) V178F probably benign Het
Rreb1 A G 13: 38,125,677 (GRCm39) T1328A probably benign Het
Septin11 A T 5: 93,309,007 (GRCm39) probably null Het
Skida1 T A 2: 18,052,549 (GRCm39) Q201L probably benign Het
Sptan1 T A 2: 29,910,055 (GRCm39) I1805N probably damaging Het
Stard13 T A 5: 150,970,435 (GRCm39) Q853L possibly damaging Het
Susd1 T A 4: 59,365,916 (GRCm39) probably null Het
Szt2 T A 4: 118,245,061 (GRCm39) Q1158H possibly damaging Het
Tbcc A C 17: 47,202,046 (GRCm39) D144A probably benign Het
Tsn A G 1: 118,232,437 (GRCm39) I146T probably benign Het
Umad1 A T 6: 8,427,121 (GRCm39) T99S probably damaging Het
Vcan T A 13: 89,805,777 (GRCm39) E3261V probably damaging Het
Vcan C A 13: 89,851,439 (GRCm39) E1174* probably null Het
Vmn2r100 C A 17: 19,751,415 (GRCm39) probably null Het
Vmn2r65 A G 7: 84,595,919 (GRCm39) I255T probably damaging Het
Vps35l T C 7: 118,342,855 (GRCm39) S47P probably benign Het
Wdr70 A G 15: 8,006,612 (GRCm39) L313P possibly damaging Het
Ythdf2 C A 4: 131,932,089 (GRCm39) R357L probably damaging Het
Zfp523 T C 17: 28,420,267 (GRCm39) C262R probably damaging Het
Zfp553 T C 7: 126,835,936 (GRCm39) V497A probably benign Het
Zhx1 A G 15: 57,916,662 (GRCm39) L528S 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
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
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'- CTAAGATGTACTGTGGCAGAGG -3'
(R):5'- CGTACAAGGATTGGCTCAGC -3'

Sequencing Primer
(F):5'- TGGCAGAGGGCACAGGG -3'
(R):5'- CAAGGATTGGCTCAGCTGTGC -3'
Posted On 2020-06-30