Mutagenetix > Incidental Mutation

Incidental Mutation 'R0092:Opa1'

20326

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

038379-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0092 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

29398152-29473702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29444412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 866 (D866V)

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: D847V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084
AA Change: D847V

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: ENSMUST00000160153

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 damaging
Transcript: ENSMUST00000160597
AA Change: D829V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084
AA Change: D829V

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: D866V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: D866V

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

0.1915

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

99% (112/113)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	A	6: 58,662,762 (GRCm39)	S535T	probably benign	Het
Acad11	A	T	9: 103,967,540 (GRCm39)		probably benign	Het
Acadm	A	T	3: 153,647,512 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,889,684 (GRCm39)	M12K	probably damaging	Het
Actr2	A	T	11: 20,044,308 (GRCm39)	N99K	probably benign	Het
Adam2	G	A	14: 66,291,336 (GRCm39)	A314V	probably damaging	Het
Agl	C	T	3: 116,587,453 (GRCm39)	R34Q	probably damaging	Het
Agrn	C	T	4: 156,263,410 (GRCm39)	R338H	probably damaging	Het
AI661453	A	G	17: 47,778,440 (GRCm39)		probably benign	Het
Alpk3	A	G	7: 80,742,301 (GRCm39)	D706G	probably benign	Het
Apbb1	T	C	7: 105,208,361 (GRCm39)	E648G	probably damaging	Het
Astn2	C	A	4: 66,322,219 (GRCm39)	A127S	unknown	Het
Asxl2	T	C	12: 3,546,313 (GRCm39)	S366P	probably benign	Het
Bdh1	A	T	16: 31,266,380 (GRCm39)	K92*	probably null	Het
Bltp1	A	G	3: 37,082,308 (GRCm39)	D3790G	probably benign	Het
Cacna1g	C	T	11: 94,348,090 (GRCm39)	S666N	probably damaging	Het
Ces2b	A	G	8: 105,563,144 (GRCm39)	T361A	possibly damaging	Het
Col6a4	T	A	9: 105,890,513 (GRCm39)	E1927V	probably benign	Het
Ctnnb1	T	G	9: 120,781,929 (GRCm39)	I314S	possibly damaging	Het
Cyp2c66	T	C	19: 39,172,224 (GRCm39)		probably benign	Het
Dennd4c	T	A	4: 86,699,844 (GRCm39)	F232I	probably damaging	Het
Dennd5a	T	C	7: 109,499,013 (GRCm39)	N950S	possibly damaging	Het
Dhx30	T	C	9: 109,914,078 (GRCm39)	N14S	possibly damaging	Het
Dip2b	T	A	15: 100,100,146 (GRCm39)	V1004D	probably damaging	Het
Dnah1	A	C	14: 30,993,566 (GRCm39)	S2872A	probably benign	Het
Dnajc10	T	C	2: 80,156,026 (GRCm39)	V233A	probably damaging	Het
E230025N22Rik	A	G	18: 36,822,277 (GRCm39)	L162P	probably damaging	Het
Elmod3	T	C	6: 72,543,792 (GRCm39)	D333G	probably benign	Het
Epb41l3	T	A	17: 69,593,745 (GRCm39)	M846K	probably damaging	Het
Frem2	A	G	3: 53,497,217 (GRCm39)	Y1766H	probably benign	Het
Fxr2	T	C	11: 69,532,972 (GRCm39)		probably benign	Het
Gmpr2	A	G	14: 55,915,402 (GRCm39)	R258G	probably benign	Het
Helb	T	C	10: 119,925,713 (GRCm39)	Y888C	probably damaging	Het
Hephl1	TTCCAGATGTCC	TTCC	9: 15,001,899 (GRCm39)		probably null	Het
Hipk2	T	C	6: 38,720,164 (GRCm39)	D482G	probably damaging	Het
Itgb4	G	T	11: 115,869,950 (GRCm39)	R44L	probably damaging	Het
Itih1	T	C	14: 30,662,820 (GRCm39)		probably benign	Het
Kit	T	A	5: 75,808,414 (GRCm39)	S719R	possibly damaging	Het
Krt13	G	A	11: 100,012,258 (GRCm39)	Q22*	probably null	Het
L3mbtl4	A	C	17: 68,732,698 (GRCm39)	R59S	probably benign	Het
Lpp	A	G	16: 24,580,352 (GRCm39)	S23G	probably benign	Het
Magi3	G	A	3: 103,958,280 (GRCm39)	Q602*	probably null	Het
Man2a1	A	G	17: 64,966,079 (GRCm39)		probably benign	Het
Muc5ac	A	G	7: 141,372,367 (GRCm39)	E2667G	possibly damaging	Het
Myef2l	G	A	3: 10,153,633 (GRCm39)	C134Y	possibly damaging	Het
Myo15b	C	G	11: 115,753,812 (GRCm39)	S842C	possibly damaging	Het
Naf1	T	A	8: 67,341,760 (GRCm39)	S462T	probably benign	Het
Necab3	T	C	2: 154,400,659 (GRCm39)	D34G	possibly damaging	Het
Nisch	C	A	14: 30,913,410 (GRCm39)		probably benign	Het
Nlrc5	T	C	8: 95,216,222 (GRCm39)		probably benign	Het
Nmt1	T	C	11: 102,937,319 (GRCm39)	F119L	probably damaging	Het
Nod1	T	G	6: 54,921,526 (GRCm39)	D264A	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nt5e	T	A	9: 88,252,338 (GRCm39)	F567I	probably benign	Het
Obscn	A	T	11: 58,942,073 (GRCm39)	M4434K	possibly damaging	Het
Or10a3m	T	C	7: 108,313,031 (GRCm39)	V145A	probably benign	Het
Or10al3	T	G	17: 38,011,696 (GRCm39)	L45R	probably damaging	Het
Or10p1	A	G	10: 129,444,090 (GRCm39)	S87P	probably damaging	Het
Or1j21	A	G	2: 36,683,508 (GRCm39)	T87A	probably benign	Het
Or51ai2	T	C	7: 103,586,934 (GRCm39)	S116P	probably damaging	Het
Otop1	T	A	5: 38,457,174 (GRCm39)	V311E	probably damaging	Het
Pcsk2	A	G	2: 143,642,944 (GRCm39)	D407G	probably damaging	Het
Pdcd1	A	G	1: 93,980,149 (GRCm39)	W23R	possibly damaging	Het
Pigp	A	G	16: 94,166,321 (GRCm39)	V129A	probably damaging	Het
Pik3r5	A	G	11: 68,383,629 (GRCm39)	R483G	probably benign	Het
Pink1	A	G	4: 138,047,309 (GRCm39)	V225A	probably benign	Het
Plcl1	C	G	1: 55,735,924 (GRCm39)	Q422E	probably damaging	Het
Plec	T	C	15: 76,067,943 (GRCm39)	E1222G	probably benign	Het
Polr1a	T	C	6: 71,944,439 (GRCm39)		probably benign	Het
Prokr2	C	T	2: 132,215,517 (GRCm39)	V154M	probably damaging	Het
Rasgrp4	A	G	7: 28,844,557 (GRCm39)	R280G	possibly damaging	Het
Rmnd5b	T	C	11: 51,520,419 (GRCm39)	E8G	possibly damaging	Het
Sbf2	T	A	7: 109,920,013 (GRCm39)		probably benign	Het
Sec23b	A	G	2: 144,408,830 (GRCm39)	M172V	probably benign	Het
Setx	T	C	2: 29,036,305 (GRCm39)	V930A	probably benign	Het
Sft2d2	G	A	1: 165,006,829 (GRCm39)	A159V	possibly damaging	Het
Sh3gl1	G	T	17: 56,325,088 (GRCm39)	R250S	probably benign	Het
Skor1	C	A	9: 63,053,277 (GRCm39)	D231Y	probably damaging	Het
Slc24a1	T	G	9: 64,856,034 (GRCm39)	E291A	unknown	Het
Slc28a2b	G	T	2: 122,348,078 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,951,925 (GRCm39)		probably benign	Het
Tbccd1	A	T	16: 22,644,844 (GRCm39)	N177K	possibly damaging	Het
Tdp1	T	A	12: 99,921,248 (GRCm39)	Y595N	probably damaging	Het
Tle5	G	A	10: 81,397,054 (GRCm39)	G10D	possibly damaging	Het
Tmem108	T	C	9: 103,366,504 (GRCm39)	K496E	possibly damaging	Het
Tmprss7	T	C	16: 45,487,959 (GRCm39)	D490G	probably damaging	Het
Tnrc6b	A	T	15: 80,802,729 (GRCm39)	N1511Y	probably damaging	Het
Top2b	G	A	14: 16,409,263 (GRCm38)	R802Q	probably damaging	Het
Trip10	A	T	17: 57,557,798 (GRCm39)	K27N	possibly damaging	Het
Txlnb	A	G	10: 17,718,503 (GRCm39)	N445D	possibly damaging	Het
Txnrd1	T	A	10: 82,715,636 (GRCm39)	I159N	probably damaging	Het
Ulk1	C	A	5: 110,944,193 (GRCm39)	A164S	probably null	Het
Vmn2r83	T	C	10: 79,327,798 (GRCm39)	V802A	probably damaging	Het
Zbtb4	A	G	11: 69,670,177 (GRCm39)	I967V	probably benign	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
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
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'- TTTCCCACATGGGCACACATAGAC -3'
(R):5'- GCACAGATTCAGAAAGCTGACCTCC -3'

Sequencing Primer
(F):5'- GAACCAGTGGCTATGCTCCTAAG -3'
(R):5'- GAAGAGCTTGTCTAGAGTCCTATCC -3'

Posted On

2013-04-11