Mutagenetix > Incidental Mutation

Incidental Mutation 'R7096:Coq2'

568614

Institutional Source

Beutler Lab

Gene Symbol

Coq2

Ensembl Gene

ENSMUSG00000029319

Gene Name

coenzyme Q2 4-hydroxybenzoate polyprenyltransferase

Synonyms

2310002F18Rik

MMRRC Submission

045188-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7096 (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 100811586 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: L92P

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: 99.7%
20x: 98.9%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,888,305 (GRCm39)	M383R	probably damaging	Het
Acd	T	A	8: 106,425,121 (GRCm39)	E366V	possibly damaging	Het
Acvr2b	T	A	9: 119,257,255 (GRCm39)		probably null	Het
Alg10b	C	T	15: 90,111,564 (GRCm39)	T136I	probably benign	Het
Ankrd42	T	A	7: 92,241,040 (GRCm39)	K440*	probably null	Het
Apc	T	A	18: 34,449,010 (GRCm39)	S1969T	probably damaging	Het
Arhgef25	T	C	10: 127,019,897 (GRCm39)	Y447C	probably damaging	Het
AW146154	G	A	7: 41,130,867 (GRCm39)	A83V	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Barhl1	T	G	2: 28,799,726 (GRCm39)	I300L	probably benign	Het
Brd1	C	A	15: 88,598,138 (GRCm39)	R536L	probably damaging	Het
Brms1	T	A	19: 5,096,708 (GRCm39)	I130N	probably damaging	Het
Ccdc68	A	G	18: 70,073,241 (GRCm39)	H63R	probably damaging	Het
Ccl28	A	G	13: 120,112,429 (GRCm39)	I74V	probably benign	Het
Cd300ld	T	A	11: 114,878,321 (GRCm39)	I64F	possibly damaging	Het
Cdkl2	G	A	5: 92,181,043 (GRCm39)	Q199*	probably null	Het
Cdkn2c	C	T	4: 109,518,555 (GRCm39)	R133Q	probably benign	Het
Coq6	T	C	12: 84,408,595 (GRCm39)		probably null	Het
Csmd2	C	T	4: 128,356,519 (GRCm39)	S1608L		Het
Cyp11b2	T	A	15: 74,727,837 (GRCm39)	R82W	probably damaging	Het
Cyp2d10	T	C	15: 82,289,462 (GRCm39)	T217A	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dnah7a	T	C	1: 53,522,599 (GRCm39)	I2880V	possibly damaging	Het
Dync1h1	C	A	12: 110,623,512 (GRCm39)	T3595K	probably damaging	Het
Ecscr	T	A	18: 35,848,478 (GRCm39)	E183V	probably damaging	Het
Elovl6	A	G	3: 129,398,755 (GRCm39)	N52S	probably benign	Het
Eps8l1	G	T	7: 4,477,190 (GRCm39)	A455S	probably benign	Het
Gpat2	A	G	2: 127,270,209 (GRCm39)	N74S	probably benign	Het
Gstk1	C	A	6: 42,226,407 (GRCm39)	T172K	probably damaging	Het
Gtf3c1	T	C	7: 125,295,731 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,705,339 (GRCm39)	D532G	probably benign	Het
Hoxc12	T	A	15: 102,845,473 (GRCm39)	N62K	possibly damaging	Het
Hsdl1	C	A	8: 120,293,064 (GRCm39)	A124S	possibly damaging	Het
Il11	T	C	7: 4,778,995 (GRCm39)	Y45C	probably damaging	Het
Lcat	C	T	8: 106,666,309 (GRCm39)	M404I	possibly damaging	Het
Ldhb	A	G	6: 142,447,099 (GRCm39)	F72L	probably benign	Het
Map10	T	C	8: 126,398,662 (GRCm39)	L685P	probably damaging	Het
Me2	A	G	18: 73,927,961 (GRCm39)	V174A	probably benign	Het
Med13l	C	A	5: 118,859,991 (GRCm39)	Q328K	possibly damaging	Het
Mta2	A	T	19: 8,925,139 (GRCm39)	I336F	probably damaging	Het
Mterf1a	A	T	5: 3,941,769 (GRCm39)	I33N	probably damaging	Het
Myo15b	T	A	11: 115,782,324 (GRCm39)		probably null	Het
Myof	C	A	19: 37,924,648 (GRCm39)	G1215V	probably damaging	Het
Nlgn2	G	A	11: 69,716,516 (GRCm39)	T675M	probably damaging	Het
Or1e26	T	A	11: 73,480,463 (GRCm39)	M34L	probably benign	Het
Or5p61	C	A	7: 107,758,848 (GRCm39)	M77I	probably benign	Het
Or6c38	T	C	10: 128,929,715 (GRCm39)	I43V	probably damaging	Het
Padi3	T	C	4: 140,527,435 (GRCm39)	D122G	probably damaging	Het
Pcnx3	G	A	19: 5,722,643 (GRCm39)	R1350C	probably damaging	Het
Pdzrn4	C	A	15: 92,295,384 (GRCm39)	Q197K	probably benign	Het
Pitpnm2	C	T	5: 124,267,324 (GRCm39)	G639S	possibly damaging	Het
Piwil4	T	A	9: 14,648,112 (GRCm39)	K156*	probably null	Het
Pkmyt1	T	A	17: 23,953,087 (GRCm39)	H214Q	probably damaging	Het
Pnpt1	G	A	11: 29,104,867 (GRCm39)	R597Q	probably benign	Het
Poteg	C	A	8: 27,963,595 (GRCm39)	A344E	probably benign	Het
Rad21l	A	G	2: 151,509,840 (GRCm39)	M87T	probably benign	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Rap1gap2	C	A	11: 74,283,057 (GRCm39)	R681L	probably damaging	Het
Rimbp2	C	A	5: 128,851,333 (GRCm39)	R871L	probably damaging	Het
Rnf135	T	C	11: 80,080,051 (GRCm39)	V114A	probably benign	Het
Skic2	T	A	17: 35,060,446 (GRCm39)	H849L	probably benign	Het
Snai2	A	G	16: 14,525,028 (GRCm39)	H178R	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Taar1	A	T	10: 23,796,809 (GRCm39)	E169V	possibly damaging	Het
Tdrd12	G	T	7: 35,187,014 (GRCm39)	D625E		Het
Tlr6	A	G	5: 65,111,119 (GRCm39)	V596A	probably benign	Het
Trak2	T	G	1: 58,942,749 (GRCm39)	N886H	probably damaging	Het
Tsga10	T	A	1: 37,879,695 (GRCm39)	D32V	probably damaging	Het
Vmn1r214	A	G	13: 23,219,196 (GRCm39)	D230G	probably damaging	Het
Vmn2r108	A	G	17: 20,682,762 (GRCm39)	L814S	probably damaging	Het
Zbbx	T	C	3: 74,989,044 (GRCm39)	D353G	probably benign	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
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'- CCACATTTTACATGTCAGAGGAG -3'
(R):5'- GCCCTTAGCCTTTAACATGC -3'

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

Posted On

2019-08-30