Incidental Mutation 'R8068:Opa3'
ID 620105
Institutional Source Beutler Lab
Gene Symbol Opa3
Ensembl Gene ENSMUSG00000052214
Gene Name optic atrophy 3
Synonyms LOC384570, D630048P19Rik, LOC243868
MMRRC Submission 067503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8068 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 18962314-18980742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18978910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 125 (E125G)
Ref Sequence ENSEMBL: ENSMUSP00000069965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063976] [ENSMUST00000161711]
AlphaFold Q505D7
Predicted Effect probably damaging
Transcript: ENSMUST00000063976
AA Change: E125G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069965
Gene: ENSMUSG00000052214
AA Change: E125G

DomainStartEndE-ValueType
Pfam:OPA3 9 136 1.7e-48 PFAM
low complexity region 149 158 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161711
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for an ENU mutagenesis exhibit premature lethality, decreased body weight, dilated cardiomyopathy, axon degeneration and gross neuromuscular defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 41,278,975 (GRCm39) D455E not run Het
Aldoc T C 11: 78,215,553 (GRCm39) F79S possibly damaging Het
Atmin A G 8: 117,683,389 (GRCm39) S350G probably benign Het
Bms1 A G 6: 118,390,711 (GRCm39) F206S probably damaging Het
Carmil1 T A 13: 24,259,711 (GRCm39) I698L probably benign Het
Cd47 T A 16: 49,715,779 (GRCm39) S182T Het
Ces2e G T 8: 105,659,629 (GRCm39) probably null Het
Cfap251 A G 5: 123,394,229 (GRCm39) S373G not run Het
Cit C A 5: 116,090,525 (GRCm39) H906Q probably damaging Het
Cit T C 5: 116,120,294 (GRCm39) S1370P probably benign Het
Dchs2 T C 3: 83,207,745 (GRCm39) F1739L probably benign Het
Dlx4 T C 11: 95,036,156 (GRCm39) Y51C possibly damaging Het
Drosha T A 15: 12,883,276 (GRCm39) Y796* probably null Het
Elf1 T A 14: 79,773,830 (GRCm39) F14I probably benign Het
Fam135b T C 15: 71,404,827 (GRCm39) Q73R probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gls2 C G 10: 128,030,983 (GRCm39) R81G unknown Het
Hnrnpll T C 17: 80,358,281 (GRCm39) M157V possibly damaging Het
Itgb3 T A 11: 104,556,337 (GRCm39) M726K probably benign Het
Kcna10 T G 3: 107,101,726 (GRCm39) M119R possibly damaging Het
Kcnh1 A G 1: 191,924,250 (GRCm39) T155A probably benign Het
Kctd9 T A 14: 67,962,111 (GRCm39) D51E unknown Het
Lgr6 T C 1: 134,991,402 (GRCm39) I129V probably benign Het
Lrrfip1 A T 1: 91,055,824 (GRCm39) D598V probably damaging Het
Ltbp4 G T 7: 27,023,593 (GRCm39) Q850K probably damaging Het
Mdm1 A G 10: 117,982,709 (GRCm39) R115G possibly damaging Het
Mns1 A C 9: 72,355,809 (GRCm39) probably null Het
Mthfs G A 9: 89,093,288 (GRCm39) R14Q probably damaging Het
Muc2 T A 7: 141,298,422 (GRCm39) S25T Het
Ncapd3 T C 9: 26,974,657 (GRCm39) S710P possibly damaging Het
Nrip1 T A 16: 76,089,841 (GRCm39) H572L possibly damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Or52p1 T A 7: 104,267,460 (GRCm39) C191* probably null Het
Or5ap2 A G 2: 85,680,150 (GRCm39) E118G probably damaging Het
Or5w19 A G 2: 87,698,995 (GRCm39) Y220C probably benign Het
P3h1 A G 4: 119,094,059 (GRCm39) Y238C probably damaging Het
Pappa2 T C 1: 158,763,555 (GRCm39) D652G possibly damaging Het
Pcdha11 T A 18: 37,138,618 (GRCm39) N82K probably damaging Het
Pde4b T C 4: 102,453,212 (GRCm39) I293T probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Qki T C 17: 10,537,732 (GRCm39) D24G possibly damaging Het
Rbpjl A G 2: 164,250,438 (GRCm39) K197E possibly damaging Het
Rnf111 A T 9: 70,365,223 (GRCm39) S415T probably benign Het
Scyl1 A G 19: 5,810,853 (GRCm39) V488A probably damaging Het
Slc1a6 G C 10: 78,648,706 (GRCm39) V476L possibly damaging Het
Slc22a17 A T 14: 55,146,365 (GRCm39) F84I probably benign Het
Slc22a4 A C 11: 53,888,269 (GRCm39) I253S possibly damaging Het
Speer2 T C 16: 69,657,412 (GRCm39) H77R possibly damaging Het
Speg T C 1: 75,398,894 (GRCm39) S2114P probably damaging Het
Synpo2 T A 3: 122,911,041 (GRCm39) R201S possibly damaging Het
Ttpa C A 4: 20,028,419 (GRCm39) H225Q probably damaging Het
Vmn1r45 A T 6: 89,910,261 (GRCm39) H236Q possibly damaging Het
Vmn2r7 A T 3: 64,623,507 (GRCm39) V271D probably benign Het
Zfp53 A T 17: 21,729,274 (GRCm39) T436S probably benign Het
Other mutations in Opa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Opa3 APN 7 18,962,507 (GRCm39) missense probably damaging 1.00
R0781:Opa3 UTSW 7 18,962,524 (GRCm39) splice site probably benign
R1777:Opa3 UTSW 7 18,978,837 (GRCm39) missense probably damaging 1.00
R2068:Opa3 UTSW 7 18,978,739 (GRCm39) missense possibly damaging 0.72
R4373:Opa3 UTSW 7 18,978,699 (GRCm39) missense probably damaging 1.00
R5236:Opa3 UTSW 7 18,978,682 (GRCm39) missense probably damaging 1.00
R7051:Opa3 UTSW 7 18,978,961 (GRCm39) missense possibly damaging 0.91
R7650:Opa3 UTSW 7 18,978,896 (GRCm39) missense probably benign 0.00
R8314:Opa3 UTSW 7 18,978,940 (GRCm39) missense possibly damaging 0.62
R9172:Opa3 UTSW 7 18,989,466 (GRCm39) missense probably damaging 1.00
R9175:Opa3 UTSW 7 18,989,466 (GRCm39) missense probably damaging 1.00
RF042:Opa3 UTSW 7 18,989,594 (GRCm39) small insertion probably benign
Z1177:Opa3 UTSW 7 18,978,741 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCGCATAATGGGTTTCCG -3'
(R):5'- TGGTCACAAACAAGTCCAGGC -3'

Sequencing Primer
(F):5'- TTTCCGGGGCACTACCATCAAG -3'
(R):5'- AAGTCCAGGCCTTAGCAGCTG -3'
Posted On 2020-01-23