Mutagenetix > Incidental Mutations

Incidental Mutation 'R7645:Coq2'

590476

Institutional Source

Beutler Lab

Gene Symbol

Coq2

Ensembl Gene

ENSMUSG00000029319

Gene Name

coenzyme Q2 4-hydroxybenzoate polyprenyltransferase

Synonyms

2310002F18Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100654723-100675140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100660250 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 228 (C228W)

Ref Sequence

ENSEMBL: ENSMUSP00000031262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031262] [ENSMUST00000126981] [ENSMUST00000127811] [ENSMUST00000135801]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031262
AA Change: C228W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031262
Gene: ENSMUSG00000029319
AA Change: C228W

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	55	67	N/A	INTRINSIC
Pfam:UbiA	89	348	2.1e-52	PFAM
low complexity region	354	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126981

SMART Domains

Protein: ENSMUSP00000122296
Gene: ENSMUSG00000029319

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	55	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127811

Predicted Effect

probably benign
Transcript: ENSMUST00000135146

SMART Domains

Protein: ENSMUSP00000122631
Gene: ENSMUSG00000029319

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
low complexity region	115	121	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000135801
AA Change: C45W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119410
Gene: ENSMUSG00000029319
AA Change: C45W

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
transmembrane domain	47	69	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	Het

Other mutations in Coq2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Coq2	APN	5	100655314	missense	probably benign	0.00
IGL02987:Coq2	APN	5	100663688	nonsense	probably null
R0051:Coq2	UTSW	5	100663685	missense	probably benign	0.00
R0051:Coq2	UTSW	5	100663685	missense	probably benign	0.00
R0538:Coq2	UTSW	5	100668023	missense	possibly damaging	0.89
R1056:Coq2	UTSW	5	100657947	missense	probably benign	0.01
R1934:Coq2	UTSW	5	100661865	missense	probably damaging	1.00
R4788:Coq2	UTSW	5	100657909	missense	probably damaging	0.96
R5071:Coq2	UTSW	5	100667950	missense	probably damaging	1.00
R5221:Coq2	UTSW	5	100657832	missense	possibly damaging	0.83
R5232:Coq2	UTSW	5	100657832	missense	possibly damaging	0.83
R5233:Coq2	UTSW	5	100657832	missense	possibly damaging	0.83
R6301:Coq2	UTSW	5	100661863	missense	possibly damaging	0.90
R6450:Coq2	UTSW	5	100661904	utr 3 prime	probably benign
R7096:Coq2	UTSW	5	100663720	utr 5 prime	probably benign
R7265:Coq2	UTSW	5	100660270	missense	possibly damaging	0.89
R7453:Coq2	UTSW	5	100663586	missense	probably benign	0.01
R7530:Coq2	UTSW	5	100674142	missense	probably benign
R7920:Coq2	UTSW	5	100663875	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCTGCATTTTAACCTGGTC -3'
(R):5'- CACAAGAGATTGAGAAGATCCTGTG -3'

Sequencing Primer
(F):5'- ACTTGGCCTCACAGTAAGTTTCAGG -3'
(R):5'- TCCTGTGAGGGAAGGACAGAC -3'

Posted On

2019-10-24