Mutagenetix > Incidental Mutations

Incidental Mutation 'R6889:Opa1'

537131

Institutional Source

Beutler Lab

Gene Symbol

Opa1

Ensembl Gene

ENSMUSG00000038084

Gene Name

OPA1, mitochondrial dynamin like GTPase

Synonyms

1200011N24Rik, lilr3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29579334-29654884 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 29620868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 792 (R792L)

Ref Sequence

ENSEMBL: ENSMUSP00000123880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038867] [ENSMUST00000160475] [ENSMUST00000160597] [ENSMUST00000161186]

AlphaFold

P58281

Predicted Effect

probably benign
Transcript: ENSMUST00000038867
AA Change: R773L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084
AA Change: R773L

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000160475

SMART Domains

Protein: ENSMUSP00000124739
Gene: ENSMUSG00000038084

Domain	Start	End	E-Value	Type
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
AA Change: R755L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084
AA Change: R755L

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000161186
AA Change: R792L

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: R792L

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,943,053	D103E	probably benign	Het
Abcc3	A	T	11: 94,375,555	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,029,183	Y214C	possibly damaging	Het
Azi2	A	G	9: 118,049,895		probably null	Het
BC067074	C	A	13: 113,318,378	S319R	probably damaging	Het
Cacnb2	T	A	2: 14,986,015	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,374,562	T169P	probably damaging	Het
Cfap44	G	A	16: 44,404,132	V68I	probably benign	Het
Eea1	G	T	10: 96,037,478	C1134F	probably benign	Het
Ehmt2	T	G	17: 34,912,772	F1192V	probably damaging	Het
Emc1	T	C	4: 139,365,350	F531L	probably damaging	Het
Eme1	G	A	11: 94,650,477	T173I	probably benign	Het
Gli2	A	T	1: 118,844,416	C520S	probably damaging	Het
Gm43302	T	C	5: 105,280,138	K186E	probably benign	Het
Gpr108	A	T	17: 57,236,990	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,955,642	T135N	probably benign	Het
Hydin	G	A	8: 110,532,856	D2487N	possibly damaging	Het
Igfl3	G	T	7: 18,179,800	R25L	probably benign	Het
Igsf10	A	C	3: 59,331,933	S276A	probably benign	Het
Kctd1	A	G	18: 14,973,988	S211P	probably damaging	Het
Kctd7	A	T	5: 130,152,501	Q255L	probably benign	Het
Lrig1	A	G	6: 94,625,063	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myh15	A	G	16: 49,153,111	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,944,109	F408S	probably benign	Het
Nrp1	T	C	8: 128,493,057	F652S	probably damaging	Het
Olfr1338	G	A	4: 118,754,307	T79I	probably damaging	Het
Olfr487	A	T	7: 108,211,918	F204I	probably benign	Het
Olfr574	A	T	7: 102,948,768	H91L	possibly damaging	Het
Olfr821	T	C	10: 130,034,532	M302T	probably benign	Het
Pcdha6	G	T	18: 36,968,343	L196F	probably damaging	Het
Pdia2	A	T	17: 26,196,970	Y347*	probably null	Het
Pdpr	G	T	8: 111,124,613		probably null	Het
Pigt	T	A	2: 164,507,331	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,737,981	D591A	possibly damaging	Het
Prrg2	G	A	7: 45,059,989	T97M	possibly damaging	Het
Qars	A	G	9: 108,513,183	T428A	probably damaging	Het
Rai1	T	C	11: 60,185,715	F202L	probably damaging	Het
Rars	A	T	11: 35,808,486	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,925		probably benign	Het
Slc16a6	A	C	11: 109,455,040	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,954,153	T330A	probably damaging	Het
Smc1b	A	T	15: 85,067,759	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,251,470	A4S	possibly damaging	Het
Sv2b	A	C	7: 75,125,767		probably null	Het
Syt9	A	T	7: 107,425,286	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,773,353	E198G	probably damaging	Het
Ubr3	A	T	2: 69,944,300	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,797,871	C3286S	probably damaging	Het
Vill	A	G	9: 119,065,882	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,747,370	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,117,267	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,472,574	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,601,142	V197A	probably benign	Het
Wasf1	A	T	10: 40,920,369	I32F	probably damaging	Het
Wasf2	G	T	4: 133,194,730	A387S	unknown	Het
Wdr92	G	A	11: 17,222,309	V133M	probably damaging	Het
Zbtb14	G	A	17: 69,387,679	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671	A37S	probably damaging	Het
Zfp532	A	G	18: 65,686,990	E882G	possibly damaging	Het

Other mutations in Opa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Opa1	APN	16	29618115	splice site	probably benign
IGL01087:Opa1	APN	16	29586997	missense	probably damaging	1.00
IGL01799:Opa1	APN	16	29616658	missense	possibly damaging	0.61
IGL01927:Opa1	APN	16	29586995	missense	probably benign	0.35
IGL02067:Opa1	APN	16	29616655	missense	probably damaging	1.00
IGL02317:Opa1	APN	16	29615166	critical splice donor site	probably null
IGL02567:Opa1	APN	16	29588286	missense	probably benign	0.01
IGL02826:Opa1	APN	16	29610887	missense	probably null
Longshanks	UTSW	16	29618259	missense	probably damaging	1.00
R0032:Opa1	UTSW	16	29615069	missense	probably damaging	1.00
R0032:Opa1	UTSW	16	29615069	missense	probably damaging	1.00
R0092:Opa1	UTSW	16	29625594	missense	probably damaging	0.99
R0114:Opa1	UTSW	16	29629635	missense	probably benign	0.35
R0200:Opa1	UTSW	16	29614129	missense	probably benign	0.08
R0308:Opa1	UTSW	16	29621531	missense	probably damaging	0.98
R0427:Opa1	UTSW	16	29611461	missense	probably damaging	0.98
R0671:Opa1	UTSW	16	29602207	splice site	probably benign
R1768:Opa1	UTSW	16	29620810	missense	probably benign
R1889:Opa1	UTSW	16	29625585	missense	possibly damaging	0.67
R3932:Opa1	UTSW	16	29610880	missense	probably damaging	1.00
R3933:Opa1	UTSW	16	29610880	missense	probably damaging	1.00
R4434:Opa1	UTSW	16	29611983	missense	probably damaging	1.00
R4618:Opa1	UTSW	16	29587039	missense	probably damaging	1.00
R4926:Opa1	UTSW	16	29648973	missense	possibly damaging	0.94
R5163:Opa1	UTSW	16	29597620	missense	probably damaging	0.99
R5249:Opa1	UTSW	16	29618259	missense	probably damaging	1.00
R5266:Opa1	UTSW	16	29618130	missense	probably benign	0.19
R5275:Opa1	UTSW	16	29611579	missense	probably damaging	1.00
R5372:Opa1	UTSW	16	29586119	missense	probably benign	0.00
R5990:Opa1	UTSW	16	29587018	missense	probably damaging	0.99
R6054:Opa1	UTSW	16	29615134	missense	probably damaging	1.00
R6483:Opa1	UTSW	16	29628707	missense	possibly damaging	0.72
R6522:Opa1	UTSW	16	29625514	missense	probably benign	0.06
R7225:Opa1	UTSW	16	29614039	splice site	probably null
R7243:Opa1	UTSW	16	29586996	missense	probably benign	0.01
R7324:Opa1	UTSW	16	29586981	missense	probably benign
R7831:Opa1	UTSW	16	29648937	missense	probably benign	0.02
R8304:Opa1	UTSW	16	29597671	missense	possibly damaging	0.80
R8317:Opa1	UTSW	16	29614144	missense	probably damaging	1.00
R8353:Opa1	UTSW	16	29620868	missense	probably damaging	0.99
R8453:Opa1	UTSW	16	29620868	missense	probably damaging	0.99
R8795:Opa1	UTSW	16	29629632	missense	probably damaging	1.00
R8919:Opa1	UTSW	16	29605522	missense	probably damaging	1.00
R9053:Opa1	UTSW	16	29586018	nonsense	probably null
R9087:Opa1	UTSW	16	29618235	missense	probably damaging	1.00
R9172:Opa1	UTSW	16	29620414	missense	probably benign	0.01
R9355:Opa1	UTSW	16	29613989	missense	probably damaging	1.00
R9434:Opa1	UTSW	16	29586056	missense	probably benign	0.01
RF012:Opa1	UTSW	16	29613966	missense	probably damaging	1.00
T0722:Opa1	UTSW	16	29610930	critical splice donor site	probably null
X0065:Opa1	UTSW	16	29620784	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GGGAGTAACCTACTGTTAAGCG -3'
(R):5'- TGGCAAAAGTATGATAACTGTGTGG -3'

Sequencing Primer
(F):5'- GTAACCTACTGTTAAGCGGTTATTTG -3'
(R):5'- GATTTGGACGTGCACACAC -3'

Posted On

2018-10-18