Incidental Mutation 'R9082:Optn'
ID 690057
Institutional Source Beutler Lab
Gene Symbol Optn
Ensembl Gene ENSMUSG00000026672
Gene Name optineurin
Synonyms TFIIIA-INTP, 4930441O07Rik
MMRRC Submission 068901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R9082 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 5025453-5068862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 5059451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 22 (N22K)
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: N22K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: N22K

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: N22K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: N22K

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 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm G T 5: 90,698,095 (GRCm39) C499F probably damaging Het
Agap2 A G 10: 126,918,911 (GRCm39) E429G probably damaging Het
Ankrd22 A T 19: 34,126,662 (GRCm39) V56D probably damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Ccdc168 G A 1: 44,099,874 (GRCm39) S408L unknown Het
Cdk4 T A 10: 126,900,732 (GRCm39) L128Q probably damaging Het
Clu T C 14: 66,217,153 (GRCm39) S329P probably damaging Het
Cntnap5c A G 17: 58,637,335 (GRCm39) N1071D probably damaging Het
Col5a1 T C 2: 27,852,122 (GRCm39) S540P possibly damaging Het
Cpne2 A C 8: 95,295,237 (GRCm39) I441L probably benign Het
Ctu2 T C 8: 123,203,952 (GRCm39) S87P probably damaging Het
Dhodh G T 8: 110,322,734 (GRCm39) N211K probably damaging Het
Dtnb G A 12: 3,822,740 (GRCm39) A570T possibly damaging Het
Eif3m A T 2: 104,836,217 (GRCm39) V209E probably damaging Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fktn T C 4: 53,720,010 (GRCm39) V8A unknown Het
Ftdc1 T C 16: 58,437,294 (GRCm39) R5G probably benign Het
Gcnt1 G T 19: 17,307,559 (GRCm39) S55R probably benign Het
Gm11011 G T 2: 169,426,424 (GRCm39) P63Q Het
Grk5 T C 19: 61,034,567 (GRCm39) I105T possibly damaging Het
Gskip G A 12: 105,665,009 (GRCm39) S16N probably benign Het
Gys1 C A 7: 45,088,917 (GRCm39) N169K probably benign Het
Itgb2 T C 10: 77,384,503 (GRCm39) L208P probably damaging Het
Kcnh7 A G 2: 62,607,878 (GRCm39) C568R probably damaging Het
Krt84 C T 15: 101,440,814 (GRCm39) G126D unknown Het
Lrrc26 T A 2: 25,180,344 (GRCm39) F115Y probably damaging Het
Mul1 T C 4: 138,166,945 (GRCm39) I338T probably damaging Het
Ncam2 T A 16: 81,412,660 (GRCm39) L716H probably damaging Het
Ncoa1 C T 12: 4,346,106 (GRCm39) V414I probably benign Het
Negr1 C A 3: 156,774,876 (GRCm39) C197* probably null Het
Nisch G T 14: 30,899,331 (GRCm39) A438E unknown Het
Nsun5 T C 5: 135,402,828 (GRCm39) L174P probably damaging Het
Obscn A T 11: 58,903,612 (GRCm39) V7454E probably benign Het
Or5k15 C T 16: 58,709,834 (GRCm39) V250M probably damaging Het
Or6d13 G A 6: 116,517,969 (GRCm39) C185Y probably damaging Het
Pcdhb22 A G 18: 37,653,047 (GRCm39) N248S probably damaging Het
Pcnx2 A C 8: 126,613,753 (GRCm39) L566R probably damaging Het
Pdlim5 C T 3: 142,009,163 (GRCm39) V191I possibly damaging Het
Pdzrn3 C T 6: 101,146,094 (GRCm39) probably null Het
Peak1 A T 9: 56,165,504 (GRCm39) I808N probably benign Het
Pomt1 A C 2: 32,142,973 (GRCm39) Y617S probably damaging Het
Ptch2 G A 4: 116,962,297 (GRCm39) probably null Het
Rptn A G 3: 93,302,928 (GRCm39) H87R possibly damaging Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Slc37a4 A G 9: 44,313,016 (GRCm39) T333A probably benign Het
Slc5a7 A G 17: 54,604,139 (GRCm39) V9A probably benign Het
Slc6a20a A G 9: 123,507,832 (GRCm39) F14L possibly damaging Het
Smg7 A T 1: 152,715,928 (GRCm39) M1062K probably damaging Het
Tsc22d4 T C 5: 137,749,509 (GRCm39) Y262H probably damaging Het
Vmn2r83 C T 10: 79,304,894 (GRCm39) H35Y probably benign Het
Zc3h13 CAGAGACCGGGACAGAAGGAGAGAC CAGAGAC 14: 75,569,381 (GRCm39) probably benign Het
Zeb1 C T 18: 5,772,557 (GRCm39) H949Y probably damaging Het
Zfp184 T A 13: 22,143,636 (GRCm39) H447Q probably damaging Het
Zfp551 T C 7: 12,151,004 (GRCm39) E135G 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
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'- GCCAAAGTTTTGCTGTGCTG -3'
(R):5'- GCAACCCTGGGATTTACTACCTC -3'

Sequencing Primer
(F):5'- AGCTGAGAAAGGCCCTCACTG -3'
(R):5'- GGGATTTACTACCTCTCATTCCTAG -3'
Posted On 2021-11-19