Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Opa1'

398875

Institutional Source

Beutler Lab

Gene Symbol

Opa1

Ensembl Gene

ENSMUSG00000038084

Gene Name

OPA1, mitochondrial dynamin like GTPase

Synonyms

optic atrophy 1, lilr3, 1200011N24Rik

MMRRC Submission

042820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29398152-29473702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29437077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 699 (D699V)

Ref Sequence

ENSEMBL: ENSMUSP00000123880 (fasta)

Gene Model

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

AlphaFold

P58281

Predicted Effect

probably damaging
Transcript: ENSMUST00000038867
AA Change: D680V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084
AA Change: D680V

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

noncoding transcript
Transcript: ENSMUST00000159036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160153

Predicted Effect

probably damaging
Transcript: ENSMUST00000160475
AA Change: D680V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124739
Gene: ENSMUSG00000038084
AA Change: D680V

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 damaging
Transcript: ENSMUST00000160597
AA Change: D662V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084
AA Change: D662V

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 damaging
Transcript: ENSMUST00000161186
AA Change: D699V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: D699V

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

Meta Mutation Damage Score

0.4314

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,037,885 (GRCm39)	D394G	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
Arhgef26	T	A	3: 62,247,981 (GRCm39)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mia2	A	T	12: 59,154,911 (GRCm39)	D209V	probably damaging	Het
Mpp4	C	T	1: 59,184,017 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Slc7a2	T	C	8: 41,361,130 (GRCm39)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcf25	G	T	8: 124,115,372 (GRCm39)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,369,807 (GRCm39)	M1K	probably null	Het
Vmn2r52	C	A	7: 9,910,197 (GRCm39)	R6L	probably benign	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het
Zfp687	A	T	3: 94,916,777 (GRCm39)	I783N	probably damaging	Het

Other mutations in Opa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5163:Opa1	UTSW	16	29,416,438 (GRCm39)	missense	probably damaging	0.99
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'- TAGGTAATTGCTGCTGCTCG -3'
(R):5'- ATGCCAAATTAGCTCCAGCAGAG -3'

Sequencing Primer
(F):5'- GCTGCTCGTGTTTTTACAAACG -3'
(R):5'- TTAGCTCCAGCAGAGAAGCAG -3'

Posted On

2016-07-06