Incidental Mutation 'R5163:Opa1'
ID 397123
Institutional Source Beutler Lab
Gene Symbol Opa1
Ensembl Gene ENSMUSG00000038084
Gene Name OPA1, mitochondrial dynamin like GTPase
Synonyms optic atrophy 1, lilr3, 1200011N24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5163 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 29398152-29473702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29416438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 106 (Q106L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038867] [ENSMUST00000160475] [ENSMUST00000160597] [ENSMUST00000161186]
AlphaFold P58281
Predicted Effect probably benign
Transcript: ENSMUST00000038867
SMART Domains Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
low complexity region 91 101 N/A INTRINSIC
low complexity region 189 205 N/A INTRINSIC
coiled coil region 228 271 N/A INTRINSIC
DYNc 283 533 2.18e-10 SMART
coiled coil region 918 967 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160153
Predicted Effect probably benign
Transcript: ENSMUST00000160475
SMART Domains Protein: ENSMUSP00000124739
Gene: ENSMUSG00000038084

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
low complexity region 91 101 N/A INTRINSIC
low complexity region 189 205 N/A INTRINSIC
coiled coil region 228 271 N/A INTRINSIC
DYNc 283 533 2.18e-10 SMART
Blast:DYNc 608 632 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160597
SMART Domains Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
low complexity region 91 101 N/A INTRINSIC
coiled coil region 210 253 N/A INTRINSIC
DYNc 265 515 2.18e-10 SMART
coiled coil region 900 949 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161186
AA Change: Q220L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: Q220L

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
low complexity region 91 101 N/A INTRINSIC
coiled coil region 207 290 N/A INTRINSIC
DYNc 302 552 2.18e-10 SMART
coiled coil region 937 986 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162240
AA Change: Q106L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124029
Gene: ENSMUSG00000038084
AA Change: Q106L

DomainStartEndE-ValueType
low complexity region 58 74 N/A INTRINSIC
coiled coil region 93 176 N/A INTRINSIC
Pfam:Dynamin_N 215 296 5.7e-18 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for an ENU mutation exhibit embryonic lethality, embryonic growth retardation and morphological abnormalities. Mice heterozygous for an ENU mutation exhibit abnormal cellular morphology, altered optic nerve myelination, abnormal responseto a new environment and decreased vision. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Btbd19 T G 4: 116,978,628 (GRCm39) I152L probably damaging Het
Dnaaf11 T C 15: 66,314,067 (GRCm39) D311G probably benign Het
Dync2i1 C T 12: 116,219,486 (GRCm39) R152H possibly damaging Het
Ercc6l2 A G 13: 64,046,845 (GRCm39) probably benign Het
Fat4 A G 3: 39,034,946 (GRCm39) D2866G probably damaging Het
Fkbp10 C T 11: 100,313,925 (GRCm39) A311V probably benign Het
Fnbp1l T C 3: 122,338,312 (GRCm39) N511S probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gltp A G 5: 114,812,122 (GRCm39) I147T probably benign Het
Gpr37 A T 6: 25,669,614 (GRCm39) I410N possibly damaging Het
Hivep2 G A 10: 14,015,169 (GRCm39) G1779R probably damaging Het
Ifna14 T C 4: 88,489,599 (GRCm39) Y146C probably damaging Het
Loxhd1 A G 18: 77,449,432 (GRCm39) D662G possibly damaging Het
Lrrc9 A T 12: 72,496,163 (GRCm39) I13F probably damaging Het
Map2k3 T A 11: 60,834,317 (GRCm39) I95N probably damaging Het
Mark1 A G 1: 184,637,807 (GRCm39) I594T probably damaging Het
Mettl14 T C 3: 123,168,474 (GRCm39) I189V possibly damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Odf4 C A 11: 68,813,672 (GRCm39) C133F probably damaging Het
Or10d5j T C 9: 39,868,216 (GRCm39) N5S probably damaging Het
Pax4 T G 6: 28,446,269 (GRCm39) S75R probably damaging Het
Ppfibp1 T A 6: 146,923,629 (GRCm39) probably null Het
Ptpn20 T C 14: 33,353,068 (GRCm39) I269T probably benign Het
Ptprq T C 10: 107,360,192 (GRCm39) Q2161R probably damaging Het
Rab22a A G 2: 173,503,280 (GRCm39) D31G probably damaging Het
Rap1gds1 A T 3: 138,664,817 (GRCm39) M296K probably damaging Het
Rfx1 A G 8: 84,819,840 (GRCm39) T692A probably damaging Het
Sf3b2 A G 19: 5,325,165 (GRCm39) V769A probably damaging Het
Skint5 A T 4: 113,652,762 (GRCm39) F621I unknown Het
Spink5 A C 18: 44,132,924 (GRCm39) R513S possibly damaging Het
Srrm2 C T 17: 24,038,524 (GRCm39) probably benign Het
Srrt A G 5: 137,295,035 (GRCm39) probably null Het
Sun3 T C 11: 8,973,295 (GRCm39) Q134R possibly damaging Het
Tpo A G 12: 30,155,979 (GRCm39) V174A probably benign Het
Ucp1 A G 8: 84,020,832 (GRCm39) R183G possibly damaging Het
Vmn2r66 A G 7: 84,656,017 (GRCm39) V333A probably benign Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp936 A G 7: 42,839,664 (GRCm39) Q377R probably damaging Het
Zkscan2 T C 7: 123,099,090 (GRCm39) E34G probably benign Het
Zup1 T A 10: 33,825,439 (GRCm39) E14D probably damaging Het
Other mutations in Opa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Opa1 APN 16 29,436,933 (GRCm39) splice site probably benign
IGL01087:Opa1 APN 16 29,405,815 (GRCm39) missense probably damaging 1.00
IGL01799:Opa1 APN 16 29,435,476 (GRCm39) missense possibly damaging 0.61
IGL01927:Opa1 APN 16 29,405,813 (GRCm39) missense probably benign 0.35
IGL02067:Opa1 APN 16 29,435,473 (GRCm39) missense probably damaging 1.00
IGL02317:Opa1 APN 16 29,433,984 (GRCm39) critical splice donor site probably null
IGL02567:Opa1 APN 16 29,407,104 (GRCm39) missense probably benign 0.01
IGL02826:Opa1 APN 16 29,429,705 (GRCm39) missense probably null
Longshanks UTSW 16 29,437,077 (GRCm39) missense probably damaging 1.00
R0032:Opa1 UTSW 16 29,433,887 (GRCm39) missense probably damaging 1.00
R0032:Opa1 UTSW 16 29,433,887 (GRCm39) missense probably damaging 1.00
R0092:Opa1 UTSW 16 29,444,412 (GRCm39) missense probably damaging 0.99
R0114:Opa1 UTSW 16 29,448,453 (GRCm39) missense probably benign 0.35
R0200:Opa1 UTSW 16 29,432,947 (GRCm39) missense probably benign 0.08
R0308:Opa1 UTSW 16 29,440,349 (GRCm39) missense probably damaging 0.98
R0427:Opa1 UTSW 16 29,430,279 (GRCm39) missense probably damaging 0.98
R0671:Opa1 UTSW 16 29,421,025 (GRCm39) splice site probably benign
R1768:Opa1 UTSW 16 29,439,628 (GRCm39) missense probably benign
R1889:Opa1 UTSW 16 29,444,403 (GRCm39) missense possibly damaging 0.67
R3932:Opa1 UTSW 16 29,429,698 (GRCm39) missense probably damaging 1.00
R3933:Opa1 UTSW 16 29,429,698 (GRCm39) missense probably damaging 1.00
R4434:Opa1 UTSW 16 29,430,801 (GRCm39) missense probably damaging 1.00
R4618:Opa1 UTSW 16 29,405,857 (GRCm39) missense probably damaging 1.00
R4926:Opa1 UTSW 16 29,467,791 (GRCm39) missense possibly damaging 0.94
R5249:Opa1 UTSW 16 29,437,077 (GRCm39) missense probably damaging 1.00
R5266:Opa1 UTSW 16 29,436,948 (GRCm39) missense probably benign 0.19
R5275:Opa1 UTSW 16 29,430,397 (GRCm39) missense probably damaging 1.00
R5372:Opa1 UTSW 16 29,404,937 (GRCm39) missense probably benign 0.00
R5990:Opa1 UTSW 16 29,405,836 (GRCm39) missense probably damaging 0.99
R6054:Opa1 UTSW 16 29,433,952 (GRCm39) missense probably damaging 1.00
R6483:Opa1 UTSW 16 29,447,525 (GRCm39) missense possibly damaging 0.72
R6522:Opa1 UTSW 16 29,444,332 (GRCm39) missense probably benign 0.06
R6889:Opa1 UTSW 16 29,439,686 (GRCm39) missense probably benign 0.22
R7225:Opa1 UTSW 16 29,432,857 (GRCm39) splice site probably null
R7243:Opa1 UTSW 16 29,405,814 (GRCm39) missense probably benign 0.01
R7324:Opa1 UTSW 16 29,405,799 (GRCm39) missense probably benign
R7831:Opa1 UTSW 16 29,467,755 (GRCm39) missense probably benign 0.02
R8304:Opa1 UTSW 16 29,416,489 (GRCm39) missense possibly damaging 0.80
R8317:Opa1 UTSW 16 29,432,962 (GRCm39) missense probably damaging 1.00
R8353:Opa1 UTSW 16 29,439,686 (GRCm39) missense probably damaging 0.99
R8453:Opa1 UTSW 16 29,439,686 (GRCm39) missense probably damaging 0.99
R8795:Opa1 UTSW 16 29,448,450 (GRCm39) missense probably damaging 1.00
R8919:Opa1 UTSW 16 29,424,340 (GRCm39) missense probably damaging 1.00
R9053:Opa1 UTSW 16 29,404,836 (GRCm39) nonsense probably null
R9087:Opa1 UTSW 16 29,437,053 (GRCm39) missense probably damaging 1.00
R9172:Opa1 UTSW 16 29,439,232 (GRCm39) missense probably benign 0.01
R9355:Opa1 UTSW 16 29,432,807 (GRCm39) missense probably damaging 1.00
R9434:Opa1 UTSW 16 29,404,874 (GRCm39) missense probably benign 0.01
R9511:Opa1 UTSW 16 29,429,738 (GRCm39) missense probably damaging 1.00
R9612:Opa1 UTSW 16 29,430,255 (GRCm39) missense
R9784:Opa1 UTSW 16 29,437,029 (GRCm39) nonsense probably null
RF012:Opa1 UTSW 16 29,432,784 (GRCm39) missense probably damaging 1.00
T0722:Opa1 UTSW 16 29,429,748 (GRCm39) critical splice donor site probably null
X0065:Opa1 UTSW 16 29,439,602 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TCTGAGACACCCAGTTTTACTG -3'
(R):5'- AATGACTGGAGTCCACCAACAG -3'

Sequencing Primer
(F):5'- AGTGCAGAGCCCACTTGTG -3'
(R):5'- TCCACCAACAGATTAGGGTGCTATG -3'
Posted On 2016-06-21