Mutagenetix > Incidental Mutation

Incidental Mutation 'R5221:Coq2'

402310

Institutional Source

Beutler Lab

Gene Symbol

Coq2

Ensembl Gene

ENSMUSG00000029319

Gene Name

coenzyme Q2 4-hydroxybenzoate polyprenyltransferase

Synonyms

2310002F18Rik

MMRRC Submission

042794-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5221 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100802589-100822154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100805698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 313 (H313Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031262 (fasta)

Gene Model

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

AlphaFold

Q66JT7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031262
AA Change: H313Y

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031262
Gene: ENSMUSG00000029319
AA Change: H313Y

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 benign
Transcript: ENSMUST00000135801

SMART Domains

Protein: ENSMUSP00000119410
Gene: ENSMUSG00000029319

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

Meta Mutation Damage Score

0.5581

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (53/54)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1b	T	C	3: 92,335,815 (GRCm39)	I296V	probably benign	Het
Antkmt	T	C	17: 26,010,613 (GRCm39)	N67S	possibly damaging	Het
Arhgap26	T	A	18: 39,243,525 (GRCm39)	Y134*	probably null	Het
Asap2	A	G	12: 21,263,191 (GRCm39)	I269V	probably benign	Het
Bean1	A	T	8: 104,941,784 (GRCm39)	D34V	probably damaging	Het
C8a	C	T	4: 104,703,122 (GRCm39)	V312M	probably damaging	Het
Ccser1	T	C	6: 61,289,075 (GRCm39)	S413P	probably damaging	Het
Col4a2	A	G	8: 11,498,225 (GRCm39)	N1678S	probably benign	Het
Dsg1a	T	A	18: 20,457,071 (GRCm39)	M148K	possibly damaging	Het
Farp2	T	A	1: 93,504,140 (GRCm39)	C306S	probably damaging	Het
Frem2	A	G	3: 53,493,032 (GRCm39)	V1828A	probably damaging	Het
Gm6457	T	C	18: 14,703,174 (GRCm39)		noncoding transcript	Het
Gmip	T	G	8: 70,266,785 (GRCm39)	V300G	probably damaging	Het
Gstp3	A	G	19: 4,107,607 (GRCm39)	S186P	probably damaging	Het
Gvin-ps3	G	C	7: 105,683,181 (GRCm39)		noncoding transcript	Het
Kl	G	T	5: 150,912,616 (GRCm39)	L788F	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrp1b	A	C	2: 41,002,994 (GRCm39)	S1932A	possibly damaging	Het
Lrrc36	A	G	8: 106,170,488 (GRCm39)	T234A	probably damaging	Het
Mafa	T	A	15: 75,618,891 (GRCm39)	Q294L	possibly damaging	Het
Mesp2	C	T	7: 79,461,467 (GRCm39)	T264I	possibly damaging	Het
Mindy4	A	G	6: 55,201,092 (GRCm39)	Y259C	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2d3c	A	T	7: 106,526,268 (GRCm39)	S133T	probably benign	Het
Or5as1	T	C	2: 86,980,825 (GRCm39)	Y60C	probably damaging	Het
Or5m13b	A	G	2: 85,754,493 (GRCm39)	N294D	probably damaging	Het
Or8b48	A	T	9: 38,493,148 (GRCm39)	T192S	probably damaging	Het
Pcm1	T	C	8: 41,741,193 (GRCm39)		probably null	Het
Plxna1	T	C	6: 89,297,998 (GRCm39)	D1760G	probably damaging	Het
Polq	T	A	16: 36,862,540 (GRCm39)	D345E	probably damaging	Het
Ppp1r14a	T	A	7: 28,988,926 (GRCm39)	I56N	probably damaging	Het
Ppp1r1a	G	A	15: 103,441,477 (GRCm39)	P79S	probably damaging	Het
Ptprf	C	T	4: 118,082,305 (GRCm39)	R1010H	probably benign	Het
Rai1	A	G	11: 60,081,423 (GRCm39)	E1829G	probably damaging	Het
Rmdn3	A	G	2: 118,986,935 (GRCm39)	Y31H	probably damaging	Het
Rrh	T	C	3: 129,609,280 (GRCm39)	S69G	probably damaging	Het
Skint6	A	T	4: 112,752,121 (GRCm39)		probably null	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Sltm	T	G	9: 70,486,685 (GRCm39)	L450R	probably damaging	Het
Sufu	T	C	19: 46,439,404 (GRCm39)		probably null	Het
Tmem68	T	C	4: 3,560,561 (GRCm39)	T208A	possibly damaging	Het
Tnc	T	A	4: 63,911,534 (GRCm39)	R1346*	probably null	Het
Tpbg	T	C	9: 85,726,478 (GRCm39)	L149P	probably damaging	Het
Trappc14	C	T	5: 138,260,502 (GRCm39)	S308N	probably benign	Het
Ubtf	G	A	11: 102,198,816 (GRCm39)	Q585*	probably null	Het
Vmn2r68	A	T	7: 84,871,085 (GRCm39)	C733S	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,672,684 (GRCm39)	H106Q	probably benign	Het
Wscd1	G	T	11: 71,659,501 (GRCm39)	G194W	possibly damaging	Het
Zfp354b	A	C	11: 50,813,917 (GRCm39)	I336S	probably benign	Het
Zfp462	T	A	4: 55,016,887 (GRCm39)	V870E	possibly damaging	Het

Other mutations in Coq2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Coq2	APN	5	100,803,180 (GRCm39)	missense	probably benign	0.00
IGL02987:Coq2	APN	5	100,811,554 (GRCm39)	nonsense	probably null
R0051:Coq2	UTSW	5	100,811,551 (GRCm39)	missense	probably benign	0.00
R0051:Coq2	UTSW	5	100,811,551 (GRCm39)	missense	probably benign	0.00
R0538:Coq2	UTSW	5	100,815,889 (GRCm39)	missense	possibly damaging	0.89
R1056:Coq2	UTSW	5	100,805,813 (GRCm39)	missense	probably benign	0.01
R1934:Coq2	UTSW	5	100,809,731 (GRCm39)	missense	probably damaging	1.00
R4788:Coq2	UTSW	5	100,805,775 (GRCm39)	missense	probably damaging	0.96
R5071:Coq2	UTSW	5	100,815,816 (GRCm39)	missense	probably damaging	1.00
R5232:Coq2	UTSW	5	100,805,698 (GRCm39)	missense	possibly damaging	0.83
R5233:Coq2	UTSW	5	100,805,698 (GRCm39)	missense	possibly damaging	0.83
R6301:Coq2	UTSW	5	100,809,729 (GRCm39)	missense	possibly damaging	0.90
R6450:Coq2	UTSW	5	100,809,770 (GRCm39)	utr 3 prime	probably benign
R7096:Coq2	UTSW	5	100,811,586 (GRCm39)	utr 5 prime	probably benign
R7265:Coq2	UTSW	5	100,808,136 (GRCm39)	missense	possibly damaging	0.89
R7453:Coq2	UTSW	5	100,811,452 (GRCm39)	missense	probably benign	0.01
R7530:Coq2	UTSW	5	100,822,008 (GRCm39)	missense	probably benign
R7645:Coq2	UTSW	5	100,808,116 (GRCm39)	missense	probably damaging	1.00
R7920:Coq2	UTSW	5	100,811,741 (GRCm39)	start gained	probably benign
R8903:Coq2	UTSW	5	100,811,656 (GRCm39)	utr 5 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTGTCAGAGGTCAACACAAGAG -3'
(R):5'- AAAGACGATGCTCTGATCGGC -3'

Sequencing Primer
(F):5'- CTGGAATTCACTCTGTAGACCAGG -3'
(R):5'- ATGCTCTGATCGGCCTGAAGTC -3'

Posted On

2016-07-22