Mutagenetix > Incidental Mutation

Incidental Mutation 'R5233:Coq2'

398096

Institutional Source

Beutler Lab

Gene Symbol

Coq2

Ensembl Gene

ENSMUSG00000029319

Gene Name

coenzyme Q2 4-hydroxybenzoate polyprenyltransferase

Synonyms

2310002F18Rik

MMRRC Submission

042805-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5233 (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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (56/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030619P08Rik	T	A	15: 75,301,801 (GRCm39)		noncoding transcript	Het
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Acsl6	G	A	11: 54,216,432 (GRCm39)	V200I	possibly damaging	Het
Alms1	T	A	6: 85,633,353 (GRCm39)		probably null	Het
Arhgef17	A	T	7: 100,530,576 (GRCm39)	D1403E	possibly damaging	Het
Atp10b	A	G	11: 43,121,387 (GRCm39)	T1017A	probably benign	Het
Capg	C	T	6: 72,532,509 (GRCm39)	R25C	probably damaging	Het
Cd22	A	G	7: 30,576,959 (GRCm39)	I116T	probably damaging	Het
Cep135	AGTCTGCCTTTGG	A	5: 76,739,690 (GRCm39)		probably benign	Het
Ciita	A	T	16: 10,327,265 (GRCm39)	I277F	possibly damaging	Het
Col15a1	T	C	4: 47,296,112 (GRCm39)	V943A	possibly damaging	Het
Csn3	C	T	5: 88,077,694 (GRCm39)	P67S	probably benign	Het
Csrnp3	A	G	2: 65,852,684 (GRCm39)	T359A	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,912,357 (GRCm39)	L509P	probably damaging	Het
Dclk3	A	G	9: 111,297,749 (GRCm39)	D431G	probably benign	Het
Dtx3l	A	T	16: 35,753,608 (GRCm39)	C333S	possibly damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Fam171a1	G	C	2: 3,179,390 (GRCm39)	G72A	probably damaging	Het
Fbxw17	T	C	13: 50,586,390 (GRCm39)		probably benign	Het
Fry	A	G	5: 150,393,185 (GRCm39)	D605G	possibly damaging	Het
Fyn	T	C	10: 39,405,936 (GRCm39)	F240S	probably benign	Het
Gcfc2	T	C	6: 81,930,271 (GRCm39)	L646P	probably damaging	Het
Gm5087	C	T	14: 13,158,788 (GRCm38)		noncoding transcript	Het
Got2	T	A	8: 96,602,477 (GRCm39)	N91I	probably benign	Het
Hspa4	C	T	11: 53,177,802 (GRCm39)	V103I	possibly damaging	Het
Itgad	A	G	7: 127,792,600 (GRCm39)		probably null	Het
Krt33a	A	G	11: 99,904,961 (GRCm39)	S182P	probably damaging	Het
Mcph1	T	C	8: 18,721,254 (GRCm39)	I694T	probably damaging	Het
Mmp15	T	C	8: 96,097,696 (GRCm39)	V502A	probably benign	Het
Mov10l1	T	C	15: 88,867,235 (GRCm39)	V23A	probably benign	Het
Myo9a	T	A	9: 59,817,900 (GRCm39)	N2322K	probably damaging	Het
Ndst4	A	G	3: 125,503,766 (GRCm39)	Y11C	probably damaging	Het
Nell1	T	C	7: 49,826,062 (GRCm39)	F199S	probably damaging	Het
Nup210	C	T	6: 91,003,951 (GRCm39)	V646M	probably damaging	Het
Nup98	A	T	7: 101,845,029 (GRCm39)	S13R	unknown	Het
Nxf1	T	C	19: 8,741,293 (GRCm39)	I54T	possibly damaging	Het
Or8b38	A	G	9: 37,973,446 (GRCm39)	T277A	probably damaging	Het
Pcdh10	C	A	3: 45,338,626 (GRCm39)	R928S	probably damaging	Het
Pou3f3	A	G	1: 42,737,438 (GRCm39)	N378S	probably benign	Het
Rfx6	T	A	10: 51,588,187 (GRCm39)	Y109*	probably null	Het
Rorc	T	A	3: 94,304,632 (GRCm39)	V339D	probably benign	Het
Scin	T	A	12: 40,127,558 (GRCm39)	I411F	probably benign	Het
Serpind1	A	G	16: 17,154,758 (GRCm39)	Y195C	probably damaging	Het
Tas2r117	T	C	6: 132,780,585 (GRCm39)	V241A	possibly damaging	Het
Tet3	T	A	6: 83,363,045 (GRCm39)	E709V	probably damaging	Het
Trbc1	T	A	6: 41,515,383 (GRCm39)		probably benign	Het
Vmn1r212	C	A	13: 23,067,304 (GRCm39)	G343V	unknown	Het
Vmn2r42	T	A	7: 8,197,837 (GRCm39)	K261*	probably null	Het
Xrcc5	T	A	1: 72,379,209 (GRCm39)	L438Q	probably damaging	Het
Zfp142	T	C	1: 74,624,608 (GRCm39)	N72S	probably damaging	Het
Zfp292	A	T	4: 34,809,755 (GRCm39)	S1096R	probably 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
R5221:Coq2	UTSW	5	100,805,698 (GRCm39)	missense	possibly damaging	0.83
R5232: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'- ACTTGTCAGAGGTCAACACAAG -3'
(R):5'- GAAAGACGATGCTCTGATCGG -3'

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

Posted On

2016-07-06