Incidental Mutation 'R4373:Opa3'
ID 386381
Institutional Source Beutler Lab
Gene Symbol Opa3
Ensembl Gene ENSMUSG00000052214
Gene Name optic atrophy 3
Synonyms LOC384570, D630048P19Rik, LOC243868
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4373 (G1)
Quality Score 69
Status Validated
Chromosome 7
Chromosomal Location 18962314-18980742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18978699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 55 (R55W)
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: R55W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069965
Gene: ENSMUSG00000052214
AA Change: R55W

DomainStartEndE-ValueType
Pfam:OPA3 9 136 1.7e-48 PFAM
low complexity region 149 158 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082646
Predicted Effect probably benign
Transcript: ENSMUST00000161711
Meta Mutation Damage Score 0.6716 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
BC034090 T C 1: 155,101,904 (GRCm39) N120S probably benign Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dach1 G A 14: 98,065,186 (GRCm39) T685I possibly damaging Het
Dclre1a A G 19: 56,533,874 (GRCm39) L240S probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gde1 A G 7: 118,297,781 (GRCm39) L35P possibly damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Lrtm2 A G 6: 119,297,489 (GRCm39) F184S probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nfib A G 4: 82,241,895 (GRCm39) V432A probably damaging Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Stat4 T C 1: 52,111,100 (GRCm39) probably null Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Tsku T C 7: 98,002,038 (GRCm39) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably damaging 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
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
R8068:Opa3 UTSW 7 18,978,910 (GRCm39) missense probably damaging 1.00
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'- GAGGAGATTCCATGTTCCCTGAG -3'
(R):5'- AGCATTGCAGACCTGACCAC -3'

Sequencing Primer
(F):5'- TCCATGTTCCCTGAGTGAAGCAAG -3'
(R):5'- TCATCCTGCAGAGCGTTCCAG -3'
Posted On 2016-05-20