Mutagenetix > Incidental Mutation

Incidental Mutation 'R1768:Opa1'

194634

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

039799-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29398152-29473702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29439628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 773 (S773P)

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: S754P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036993
Gene: ENSMUSG00000038084
AA Change: S754P

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: ENSMUST00000160101

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 benign
Transcript: ENSMUST00000160597
AA Change: S736P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124223
Gene: ENSMUSG00000038084
AA Change: S736P

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: S773P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123880
Gene: ENSMUSG00000038084
AA Change: S773P

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

0.0599

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

91% (107/117)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,623,470 (GRCm39)	R60P	possibly damaging	Het
Aox1	T	A	1: 58,393,354 (GRCm39)	C1199S	probably benign	Het
Arhgap18	G	A	10: 26,763,857 (GRCm39)	M482I	probably damaging	Het
Arhgap18	G	T	10: 26,763,858 (GRCm39)	A483S	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
BC051019	T	C	7: 109,322,381 (GRCm39)	T38A	probably benign	Het
Bcam	T	C	7: 19,499,543 (GRCm39)	N192S	probably null	Het
Bend5	A	T	4: 111,311,438 (GRCm39)	K351*	probably null	Het
Bicdl2	T	A	17: 23,884,923 (GRCm39)	M208K	probably damaging	Het
Ccp110	A	T	7: 118,325,247 (GRCm39)		probably null	Het
Cdc6	A	T	11: 98,803,043 (GRCm39)	T328S	probably damaging	Het
Cdk5rap2	G	T	4: 70,225,470 (GRCm39)	N558K	probably benign	Het
Cdkn1c	C	T	7: 143,012,858 (GRCm39)	R146K	probably benign	Het
Ceacam18	G	A	7: 43,297,918 (GRCm39)	C371Y	probably benign	Het
Cep95	T	A	11: 106,697,177 (GRCm39)	C233*	probably null	Het
Chrnd	A	G	1: 87,122,650 (GRCm39)	I144V	probably benign	Het
Col6a4	T	A	9: 105,957,299 (GRCm39)	Q175L	probably benign	Het
Cym	A	T	3: 107,120,816 (GRCm39)	V263E	probably damaging	Het
Cyp2a4	G	T	7: 26,012,197 (GRCm39)	V327F	possibly damaging	Het
Dhx29	T	A	13: 113,084,774 (GRCm39)	M664K	probably damaging	Het
Dlec1	T	G	9: 118,975,075 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,792,863 (GRCm39)	Y293H	probably benign	Het
Dnase1l3	T	A	14: 7,974,104 (GRCm38)	N196Y	probably damaging	Het
Eea1	T	A	10: 95,832,822 (GRCm39)	D222E	probably damaging	Het
Efcab14	A	T	4: 115,610,116 (GRCm39)		probably null	Het
Entpd5	C	T	12: 84,432,985 (GRCm39)	R189H	probably benign	Het
Exoc4	A	T	6: 33,734,985 (GRCm39)	K534M	probably damaging	Het
Extl1	T	A	4: 134,098,449 (GRCm39)	Y194F	probably benign	Het
Eya1	A	G	1: 14,323,299 (GRCm39)	L161S	possibly damaging	Het
Fam163b	T	C	2: 27,002,874 (GRCm39)	E41G	possibly damaging	Het
Fam180a	A	C	6: 35,292,287 (GRCm39)	S40A	probably benign	Het
Fbxl4	T	C	4: 22,385,950 (GRCm39)	S186P	probably benign	Het
Fbxw19	A	T	9: 109,323,840 (GRCm39)	L45*	probably null	Het
Fgf14	G	T	14: 124,913,924 (GRCm39)	T69N	probably benign	Het
Flt1	A	G	5: 147,609,519 (GRCm39)	Y432H	probably damaging	Het
Frmd4b	A	T	6: 97,283,725 (GRCm39)	L374Q	possibly damaging	Het
G6pc2	T	A	2: 69,053,321 (GRCm39)	V125D	probably damaging	Het
Gm10033	T	C	8: 69,826,210 (GRCm39)	I119M	unknown	Het
Gna15	A	T	10: 81,347,954 (GRCm39)	L164Q	probably damaging	Het
Gnaz	C	A	10: 74,827,702 (GRCm39)	D151E	possibly damaging	Het
Has1	T	C	17: 18,070,562 (GRCm39)	T120A	probably benign	Het
Hectd4	T	A	5: 121,496,366 (GRCm39)	D3919E	possibly damaging	Het
Hs3st5	A	G	10: 36,709,165 (GRCm39)	I233M	probably benign	Het
Ilf3	T	C	9: 21,314,438 (GRCm39)		probably benign	Het
Inpp5b	T	A	4: 124,687,069 (GRCm39)	L765*	probably null	Het
Insr	A	T	8: 3,209,561 (GRCm39)	I1174N	probably damaging	Het
Kash5	T	A	7: 44,838,227 (GRCm39)		probably null	Het
Kcnq3	A	G	15: 65,877,755 (GRCm39)	L445P	probably damaging	Het
Kctd20	A	T	17: 29,181,824 (GRCm39)	N159Y	probably damaging	Het
Kctd20	A	T	17: 29,185,755 (GRCm39)	D366V	probably damaging	Het
Klk15	T	C	7: 43,587,757 (GRCm39)		probably benign	Het
Lama4	T	G	10: 38,979,497 (GRCm39)	N1658K	possibly damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mas1	T	C	17: 13,060,586 (GRCm39)	Y279C	probably damaging	Het
Mast2	G	T	4: 116,164,156 (GRCm39)	D1747E	probably damaging	Het
Mest	G	A	6: 30,745,138 (GRCm39)	M235I	probably benign	Het
Mfsd6	A	G	1: 52,699,964 (GRCm39)		probably null	Het
Mllt10	T	A	2: 18,167,657 (GRCm39)	S449R	probably damaging	Het
Mon2	T	A	10: 122,849,668 (GRCm39)	T1211S	probably benign	Het
Mrnip	G	A	11: 50,067,688 (GRCm39)	C27Y	probably damaging	Het
Myh15	A	T	16: 48,983,498 (GRCm39)	T1538S	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Npy1r	A	G	8: 67,157,177 (GRCm39)	D199G	possibly damaging	Het
Numbl	A	G	7: 26,980,379 (GRCm39)	T454A	probably benign	Het
Nutm2	T	G	13: 50,627,152 (GRCm39)	F436V	probably damaging	Het
Or12e1	T	A	2: 87,022,042 (GRCm39)	S4T	probably benign	Het
Or2d3	A	T	7: 106,491,184 (GRCm39)		probably null	Het
Or2d3	G	T	7: 106,491,185 (GRCm39)	L44M	probably damaging	Het
Or2r11	A	G	6: 42,437,611 (GRCm39)	L114S	probably damaging	Het
Or2t48	A	G	11: 58,420,602 (GRCm39)	L70P	probably damaging	Het
Or51b17	A	G	7: 103,542,484 (GRCm39)	S153P	probably benign	Het
Or51m1	C	T	7: 103,578,932 (GRCm39)	R301*	probably null	Het
Or52e7	A	G	7: 104,685,157 (GRCm39)	S251G	probably benign	Het
Or52i2	A	G	7: 102,319,508 (GRCm39)	Y127C	probably damaging	Het
Or8b12c	T	A	9: 37,715,599 (GRCm39)	Y131N	probably damaging	Het
Pde8a	G	C	7: 80,950,471 (GRCm39)		probably null	Het
Pgam1	T	C	19: 41,906,144 (GRCm39)	F232S	probably damaging	Het
Pgk1	T	A	X: 105,243,914 (GRCm39)	V303E	possibly damaging	Het
Pirb	A	T	7: 3,720,189 (GRCm39)	C395S	probably damaging	Het
Plxnc1	C	T	10: 94,680,184 (GRCm39)	V824I	probably benign	Het
Ppp6r1	A	G	7: 4,636,691 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,056,131 (GRCm39)		probably benign	Het
Rars1	T	A	11: 35,700,465 (GRCm39)	T539S	probably damaging	Het
Rbm44	G	T	1: 91,081,679 (GRCm39)		probably null	Het
Samd4b	A	G	7: 28,113,317 (GRCm39)	I216T	probably benign	Het
Serpine2	A	C	1: 79,794,532 (GRCm39)	F134V	probably damaging	Het
Shmt1	A	G	11: 60,683,790 (GRCm39)	Y341H	probably damaging	Het
Slc23a2	C	A	2: 131,917,561 (GRCm39)	V226F	probably benign	Het
Slc23a4	A	G	6: 34,933,896 (GRCm39)	I69T	probably damaging	Het
Slc37a1	C	A	17: 31,552,652 (GRCm39)	T319K	possibly damaging	Het
Slc6a4	A	T	11: 76,904,078 (GRCm39)	T178S	probably damaging	Het
Smarca4	G	A	9: 21,612,479 (GRCm39)	A1588T	possibly damaging	Het
Spag17	A	T	3: 99,934,668 (GRCm39)	Y650F	possibly damaging	Het
Stab2	C	T	10: 86,838,872 (GRCm39)	G65S	probably damaging	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Stip1	C	A	19: 6,999,165 (GRCm39)	C471F	probably damaging	Het
Taf1	T	C	X: 100,584,500 (GRCm39)	S223P	probably benign	Het
Tchh	C	A	3: 93,350,882 (GRCm39)	N107K	possibly damaging	Het
Tenm3	A	C	8: 48,685,139 (GRCm39)	H2432Q	probably damaging	Het
Tmem243	A	G	5: 9,168,548 (GRCm39)	N110S	probably damaging	Het
Toe1	A	T	4: 116,662,076 (GRCm39)	I306F	probably benign	Het
Trank1	G	A	9: 111,221,995 (GRCm39)	V2911M	probably damaging	Het
Trpm4	A	G	7: 44,958,036 (GRCm39)	I811T	probably damaging	Het
Tspear	T	A	10: 77,710,950 (GRCm39)		probably null	Het
Ttc28	A	T	5: 111,425,034 (GRCm39)	I1589F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,686 (GRCm39)		probably benign	Het
U2af2	C	A	7: 5,070,544 (GRCm39)	R78S	probably benign	Het
Wdr17	A	T	8: 55,126,689 (GRCm39)	D388E	possibly damaging	Het
Wdr3	A	T	3: 100,061,186 (GRCm39)	S261T	probably benign	Het
Zfp667	A	G	7: 6,308,066 (GRCm39)	N245D	possibly damaging	Het
Zfp692	A	G	11: 58,201,002 (GRCm39)		probably benign	Het
Zfp729a	T	C	13: 67,767,370 (GRCm39)	H953R	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
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
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'- AAAAGGAGCTGCTGCCTTTCTGT -3'
(R):5'- CCAGTCTGGCCCAATCATGTTTTCAA -3'

Sequencing Primer
(F):5'- TGGGAGTAACCTACTGTTAAGC -3'
(R):5'- cagtgtatgagtggaggtcag -3'

Posted On

2014-05-23