Mutagenetix > Incidental Mutation

Incidental Mutation 'R5236:Opa3'

398394

Institutional Source

Beutler Lab

Gene Symbol

Opa3

Ensembl Gene

ENSMUSG00000052214

Gene Name

optic atrophy 3

Synonyms

LOC384570, D630048P19Rik, LOC243868

MMRRC Submission

044393-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5236 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18962314-18980742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18978682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 49 (Y49C)

Ref Sequence

ENSEMBL: ENSMUSP00000069965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063976] [ENSMUST00000161711]

AlphaFold

Q505D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000063976
AA Change: Y49C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069965
Gene: ENSMUSG00000052214
AA Change: Y49C

Domain	Start	End	E-Value	Type
Pfam:OPA3	9	136	1.7e-48	PFAM
low complexity region	149	158	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082646

Predicted Effect

probably benign
Transcript: ENSMUST00000161711

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for an ENU mutagenesis exhibit premature lethality, decreased body weight, dilated cardiomyopathy, axon degeneration and gross neuromuscular defects. [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
9630041A04Rik	T	A	9: 101,820,120 (GRCm39)	I180N	possibly damaging	Het
Actl9	T	C	17: 33,653,073 (GRCm39)	S378P	probably damaging	Het
Agrn	A	T	4: 156,263,315 (GRCm39)	C263S	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Arid4b	A	G	13: 14,301,034 (GRCm39)		probably null	Het
Bin2	T	C	15: 100,560,415 (GRCm39)	N49D	probably damaging	Het
Ccdc39	T	C	3: 33,884,251 (GRCm39)	T364A	probably damaging	Het
Cdcp1	A	T	9: 123,014,258 (GRCm39)	V172D	probably damaging	Het
Cdh23	A	G	10: 60,148,351 (GRCm39)	L2670P	probably damaging	Het
Cmtm4	G	C	8: 105,084,378 (GRCm39)	F105L	probably damaging	Het
Cspg4b	A	G	13: 113,502,754 (GRCm39)	Y153C	probably benign	Het
Ctsa	G	A	2: 164,680,831 (GRCm39)	V453M	probably damaging	Het
Cyp3a59	A	G	5: 146,039,635 (GRCm39)	I303V	probably benign	Het
Cyp4f17	T	C	17: 32,739,606 (GRCm39)		probably null	Het
Dst	C	T	1: 34,203,498 (GRCm39)	R447C	probably damaging	Het
E2f7	C	T	10: 110,603,070 (GRCm39)	P362S	probably damaging	Het
Fbxw9	A	G	8: 85,792,974 (GRCm39)	T407A	probably damaging	Het
Fyb2	T	C	4: 104,805,957 (GRCm39)	S346P	probably benign	Het
Git2	T	A	5: 114,905,233 (GRCm39)	I75L	probably damaging	Het
H2-DMa	T	A	17: 34,356,913 (GRCm39)	L137Q	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hrg	T	C	16: 22,780,263 (GRCm39)		probably benign	Het
Htr7	A	T	19: 36,034,169 (GRCm39)	I162N	probably damaging	Het
Itpripl1	A	T	2: 126,983,770 (GRCm39)	F117L	probably damaging	Het
Kri1	T	C	9: 21,187,237 (GRCm39)	Y392C	probably damaging	Het
Krt27	A	C	11: 99,241,641 (GRCm39)	S87A	possibly damaging	Het
Lama1	T	C	17: 68,111,487 (GRCm39)	V2246A	probably benign	Het
Lcn2	A	T	2: 32,275,973 (GRCm39)	M119K	probably benign	Het
Lrp2	T	C	2: 69,287,163 (GRCm39)		probably null	Het
Lrp6	T	C	6: 134,488,227 (GRCm39)	N290D	probably damaging	Het
Macf1	T	C	4: 123,291,614 (GRCm39)	E2517G	probably damaging	Het
Melk	G	A	4: 44,344,959 (GRCm39)	C363Y	probably benign	Het
Mettl22	T	A	16: 8,306,597 (GRCm39)	L351*	probably null	Het
Mms22l	A	G	4: 24,588,347 (GRCm39)	Q953R	probably benign	Het
Ndufaf7	T	C	17: 79,247,060 (GRCm39)	S107P	probably benign	Het
Or2a12	A	C	6: 42,904,715 (GRCm39)	R183S	probably benign	Het
Or9a2	C	A	6: 41,749,045 (GRCm39)	G63C	probably benign	Het
Pabpn1	T	A	14: 55,132,399 (GRCm39)	M145K	possibly damaging	Het
Plce1	A	C	19: 38,758,791 (GRCm39)	M1982L	probably benign	Het
Ppcdc	A	C	9: 57,321,937 (GRCm39)	I201S	probably benign	Het
Rag2	A	T	2: 101,460,005 (GRCm39)	D105V	probably damaging	Het
Rnf130	C	T	11: 49,986,805 (GRCm39)	T383I	probably damaging	Het
Sgip1	T	G	4: 102,784,784 (GRCm39)		probably null	Het
Slc23a2	T	A	2: 131,917,504 (GRCm39)	I245F	probably damaging	Het
Slc4a9	A	G	18: 36,663,900 (GRCm39)	Y308C	probably benign	Het
Slc7a15	C	T	12: 8,589,005 (GRCm39)	V181M	probably benign	Het
Sprr2b	G	A	3: 92,224,943 (GRCm39)	C63Y	unknown	Het
Stpg2	A	T	3: 138,937,984 (GRCm39)	Y181F	probably damaging	Het
Sult2a5	A	T	7: 13,398,974 (GRCm39)	T194S	probably benign	Het
Tbx15	A	T	3: 99,259,362 (GRCm39)	Q411L	possibly damaging	Het
Tln2	T	A	9: 67,273,205 (GRCm39)	E427V	probably damaging	Het
Trpv4	A	C	5: 114,760,856 (GRCm39)	V825G	possibly damaging	Het
Trrap	A	G	5: 144,754,596 (GRCm39)	I1968V	probably benign	Het
Ttn	G	A	2: 76,619,146 (GRCm39)	L16078F	probably damaging	Het
Unc45b	T	A	11: 82,805,888 (GRCm39)	F132I	possibly damaging	Het
Unc79	T	A	12: 103,060,654 (GRCm39)		probably null	Het
Vmn2r71	A	T	7: 85,272,877 (GRCm39)	N564Y	probably damaging	Het
Zfp638	G	T	6: 83,953,557 (GRCm39)	E1221*	probably null	Het
Zfp934	A	T	13: 62,665,527 (GRCm39)	H371Q	probably damaging	Het
Zranb3	A	G	1: 127,968,726 (GRCm39)	L63P	probably damaging	Het

Other mutations in Opa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Opa3	APN	7	18,962,507 (GRCm39)	missense	probably damaging	1.00
R0781:Opa3	UTSW	7	18,962,524 (GRCm39)	splice site	probably benign
R1777:Opa3	UTSW	7	18,978,837 (GRCm39)	missense	probably damaging	1.00
R2068:Opa3	UTSW	7	18,978,739 (GRCm39)	missense	possibly damaging	0.72
R4373:Opa3	UTSW	7	18,978,699 (GRCm39)	missense	probably damaging	1.00
R7051:Opa3	UTSW	7	18,978,961 (GRCm39)	missense	possibly damaging	0.91
R7650:Opa3	UTSW	7	18,978,896 (GRCm39)	missense	probably benign	0.00
R8068:Opa3	UTSW	7	18,978,910 (GRCm39)	missense	probably damaging	1.00
R8314:Opa3	UTSW	7	18,978,940 (GRCm39)	missense	possibly damaging	0.62
R9172:Opa3	UTSW	7	18,989,466 (GRCm39)	missense	probably damaging	1.00
R9175:Opa3	UTSW	7	18,989,466 (GRCm39)	missense	probably damaging	1.00
RF042:Opa3	UTSW	7	18,989,594 (GRCm39)	small insertion	probably benign
Z1177:Opa3	UTSW	7	18,978,741 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGATGTCTCTGGAGCTAGGC -3'
(R):5'- CCTTATTGCGCTGCTGAGTC -3'

Sequencing Primer
(F):5'- TCATGAGTTCAAGGTCAGCC -3'
(R):5'- CTGAGTCTGGTGGCGCC -3'

Posted On

2016-07-06