Mutagenetix > Incidental Mutation

Incidental Mutation 'R8903:Coq2'

711128

Institutional Source

Beutler Lab

Gene Symbol

Coq2

Ensembl Gene

ENSMUSG00000029319

Gene Name

coenzyme Q2 4-hydroxybenzoate polyprenyltransferase

Synonyms

2310002F18Rik

MMRRC Submission

068760-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100802589-100822154 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 100811656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119410 (fasta)

Gene Model

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

AlphaFold

Q66JT7

Predicted Effect

probably benign
Transcript: ENSMUST00000031262

SMART Domains

Protein: ENSMUSP00000031262
Gene: ENSMUSG00000029319

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

SMART Domains

Protein: ENSMUSP00000122631
Gene: ENSMUSG00000029319
AA Change: S69P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,815,526 (GRCm39)	F258S	probably damaging	Het
Abca3	A	G	17: 24,602,959 (GRCm39)	Y518C	probably damaging	Het
Ank2	A	T	3: 126,840,431 (GRCm39)	N274K	probably damaging	Het
Ankrd31	C	T	13: 96,969,329 (GRCm39)	L989F	probably damaging	Het
Ano6	A	G	15: 95,825,463 (GRCm39)	R354G	probably benign	Het
Ano8	T	C	8: 71,934,834 (GRCm39)		probably null	Het
Arfgef1	T	C	1: 10,211,838 (GRCm39)	Y1735C	probably damaging	Het
B3gnt8	G	A	7: 25,328,659 (GRCm39)	G363D	probably benign	Het
Calcrl	T	C	2: 84,203,729 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,726 (GRCm39)	D782V	unknown	Het
Ccdc162	A	G	10: 41,531,440 (GRCm39)		probably null	Het
Cdkal1	A	T	13: 29,809,918 (GRCm39)	*219R	probably null	Het
Clcnkb	A	T	4: 141,135,160 (GRCm39)	V526D	possibly damaging	Het
Cnbp	A	T	6: 87,821,074 (GRCm39)	C162S	probably damaging	Het
D6Wsu163e	T	A	6: 126,931,778 (GRCm39)	L270Q	probably damaging	Het
Dennd10	C	T	19: 60,823,423 (GRCm39)	Q353*	probably null	Het
Dnhd1	C	T	7: 105,362,855 (GRCm39)	Q3806*	probably null	Het
Eepd1	T	C	9: 25,394,518 (GRCm39)	F261L	probably benign	Het
Fes	C	T	7: 80,036,559 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,807,681 (GRCm39)	D1333E	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm5113	T	C	7: 29,878,292 (GRCm39)	F127L	probably benign	Het
Grk3	A	G	5: 113,066,697 (GRCm39)	S596P	possibly damaging	Het
Gsk3a	A	G	7: 24,936,814 (GRCm39)	V91A	possibly damaging	Het
Gss	T	C	2: 155,420,279 (GRCm39)	K141E	probably damaging	Het
Il1rl2	A	T	1: 40,366,530 (GRCm39)		probably null	Het
Kcnmb1	A	G	11: 33,914,825 (GRCm39)	Y42C	probably damaging	Het
Krtap16-1	A	T	11: 99,877,170 (GRCm39)	I78N	probably damaging	Het
Lrp2	C	T	2: 69,379,382 (GRCm39)	S110N	possibly damaging	Het
Lrrfip1	T	A	1: 91,012,781 (GRCm39)		probably benign	Het
Magel2	G	T	7: 62,029,441 (GRCm39)	A782S	unknown	Het
Map1b	C	A	13: 99,569,017 (GRCm39)	E1235*	probably null	Het
Mcpt1	A	C	14: 56,257,520 (GRCm39)	H222P	probably benign	Het
Met	T	A	6: 17,549,137 (GRCm39)	N996K	probably benign	Het
Mia	C	A	7: 26,880,230 (GRCm39)	Q52H	probably damaging	Het
Mia	T	A	7: 26,880,231 (GRCm39)	Q52L	possibly damaging	Het
Myh7	T	A	14: 55,230,228 (GRCm39)	K35*	probably null	Het
Myt1l	T	A	12: 29,861,468 (GRCm39)	D83E	unknown	Het
Nbl1	A	G	4: 138,810,861 (GRCm39)	V111A	probably damaging	Het
Nid1	T	A	13: 13,638,515 (GRCm39)	V145D	probably benign	Het
Nif3l1	C	T	1: 58,486,653 (GRCm39)		probably benign	Het
Npnt	T	C	3: 132,591,764 (GRCm39)	Y500C	probably damaging	Het
Nubpl	T	A	12: 52,144,676 (GRCm39)		probably null	Het
Nxpe4	T	A	9: 48,310,250 (GRCm39)	D504E	probably damaging	Het
Obsl1	A	G	1: 75,463,917 (GRCm39)	V1696A	possibly damaging	Het
Or56a3	A	T	7: 104,735,329 (GRCm39)	R135S	possibly damaging	Het
Or8s2	A	T	15: 98,276,475 (GRCm39)	I172N	probably damaging	Het
P2rx1	A	T	11: 72,900,821 (GRCm39)	H224L	probably benign	Het
Pald1	A	T	10: 61,182,815 (GRCm39)		probably null	Het
Pard6g	C	T	18: 80,160,411 (GRCm39)	R175*	probably null	Het
Pisd	A	G	5: 32,895,755 (GRCm39)	I271T	probably benign	Het
Prrt3	T	C	6: 113,472,796 (GRCm39)	S459G	probably damaging	Het
Psd3	A	T	8: 68,165,945 (GRCm39)	C328S	unknown	Het
Psme1	A	G	14: 55,817,853 (GRCm39)	E120G		Het
Pum3	A	T	19: 27,397,457 (GRCm39)	M306K	possibly damaging	Het
Pxdn	T	C	12: 30,040,992 (GRCm39)	F423L	probably benign	Het
Rac3	A	G	11: 120,614,071 (GRCm39)	D118G	probably damaging	Het
Rnf14	A	G	18: 38,446,267 (GRCm39)	K357E	probably benign	Het
Rpl23a	T	C	11: 78,073,720 (GRCm39)	I40V	probably benign	Het
Slc5a5	A	T	8: 71,345,227 (GRCm39)	S27T	probably damaging	Het
Slc7a14	A	T	3: 31,277,595 (GRCm39)	L670Q	probably damaging	Het
Snorc	C	T	1: 87,402,826 (GRCm39)	T52I	probably damaging	Het
Sst	T	A	16: 23,708,499 (GRCm39)	K111*	probably null	Het
Stxbp4	A	G	11: 90,426,267 (GRCm39)	S514P	unknown	Het
Susd1	T	A	4: 59,390,576 (GRCm39)	T300S	probably benign	Het
Tecpr1	C	T	5: 144,150,845 (GRCm39)		probably benign	Het
Tmem185b	C	T	1: 119,454,198 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,699 (GRCm39)	F305I	probably damaging	Het
Ttk	T	A	9: 83,750,113 (GRCm39)	D689E	probably damaging	Het
Tut4	A	T	4: 108,336,408 (GRCm39)	D44V	probably damaging	Het
Usp25	A	G	16: 76,878,421 (GRCm39)	D615G	probably damaging	Het
Vmn1r209	A	G	13: 22,990,684 (GRCm39)	V2A	probably benign	Het
Vmn2r80	A	C	10: 79,017,928 (GRCm39)	E551A	probably damaging	Het
Wac	G	T	18: 7,926,104 (GRCm39)	E636*	probably null	Het
Wdr53	T	A	16: 32,071,130 (GRCm39)	D158E	probably damaging	Het
Zbtb7c	T	C	18: 76,270,152 (GRCm39)	V80A	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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTAAACACAGGAGAACGCC -3'
(R):5'- GCCCTTAGCCTTTAACATGC -3'

Sequencing Primer
(F):5'- CAGTGCCAAGGTCAGCTGTC -3'
(R):5'- CTATTACAGGTGGTTGAGAGCCACC -3'

Posted On

2022-05-05