Incidental Mutation 'R4788:Coq2'
ID 367242
Institutional Source Beutler Lab
Gene Symbol Coq2
Ensembl Gene ENSMUSG00000029319
Gene Name coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Synonyms 2310002F18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4788 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 100802589-100822154 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100805775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 287 (V287E)
Ref Sequence ENSEMBL: ENSMUSP00000031262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031262] [ENSMUST00000126981] [ENSMUST00000127811] [ENSMUST00000135801]
AlphaFold Q66JT7
Predicted Effect probably damaging
Transcript: ENSMUST00000031262
AA Change: V287E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031262
Gene: ENSMUSG00000029319
AA Change: V287E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
transmembrane domain 47 69 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,960,361 (GRCm39) D815N probably damaging Het
Abcc9 A T 6: 142,566,456 (GRCm39) C1135* probably null Het
Ap3b1 G A 13: 94,702,149 (GRCm39) M1067I unknown Het
Arhgap15 T C 2: 43,638,902 (GRCm39) M1T probably null Het
Boc T C 16: 44,320,796 (GRCm39) D288G probably damaging Het
Brsk1 G T 7: 4,701,954 (GRCm39) probably null Het
Cabp1 T C 5: 115,313,530 (GRCm39) N226S probably benign Het
Capn13 A T 17: 73,644,427 (GRCm39) Y367* probably null Het
Ccdc191 A G 16: 43,777,185 (GRCm39) E632G probably damaging Het
Cit T C 5: 116,071,565 (GRCm39) S591P probably damaging Het
Ckmt1 T C 2: 121,190,427 (GRCm39) V118A possibly damaging Het
Cndp2 T C 18: 84,693,289 (GRCm39) N157S probably damaging Het
Col6a3 A G 1: 90,700,672 (GRCm39) probably null Het
Cpa6 T C 1: 10,478,502 (GRCm39) K278R possibly damaging Het
Cracdl A T 1: 37,670,556 (GRCm39) I128K probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp3a25 A T 5: 145,921,892 (GRCm39) Y347* probably null Het
Dcun1d4 G T 5: 73,691,971 (GRCm39) W160L probably damaging Het
Dennd4c A G 4: 86,738,200 (GRCm39) T994A probably benign Het
Dhx57 T C 17: 80,582,760 (GRCm39) T229A probably benign Het
Dnah6 T A 6: 73,106,513 (GRCm39) R1741S probably damaging Het
Dock1 T A 7: 134,747,213 (GRCm39) V1508D probably damaging Het
Donson T C 16: 91,484,721 (GRCm39) T117A possibly damaging Het
Dtnb A G 12: 3,822,699 (GRCm39) D533G probably damaging Het
Fcrl5 A G 3: 87,364,495 (GRCm39) N470S probably damaging Het
Focad T A 4: 88,275,706 (GRCm39) V1105E unknown Het
Fry T C 5: 150,323,101 (GRCm39) V1084A probably benign Het
Gabra1 G T 11: 42,037,980 (GRCm39) R213S probably damaging Het
Gbp2b A C 3: 142,317,171 (GRCm39) K509T probably benign Het
Gprc6a T C 10: 51,491,104 (GRCm39) T811A probably benign Het
Hmgcs2 A G 3: 98,198,400 (GRCm39) D101G probably damaging Het
Ifna11 G A 4: 88,738,245 (GRCm39) W17* probably null Het
Ighv1-62-3 T A 12: 115,424,672 (GRCm39) M100L probably benign Het
Lgmn T A 12: 102,368,936 (GRCm39) Y181F probably benign Het
Map4k4 T C 1: 40,043,076 (GRCm39) S644P probably benign Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Nav1 C T 1: 135,397,461 (GRCm39) A903T probably benign Het
Nop53 T C 7: 15,676,240 (GRCm39) E153G possibly damaging Het
Nop56 G T 2: 130,120,820 (GRCm39) V190L probably benign Het
Nyap2 A T 1: 81,247,112 (GRCm39) M687L probably benign Het
Or4a81 G A 2: 89,619,480 (GRCm39) S72F probably damaging Het
Or8g17 T C 9: 38,930,217 (GRCm39) T207A probably benign Het
Or8g26 A G 9: 39,095,908 (GRCm39) T145A probably benign Het
Osbp2 T C 11: 3,813,320 (GRCm39) K183R probably benign Het
Pappa2 A G 1: 158,611,487 (GRCm39) V1492A possibly damaging Het
Pax1 A G 2: 147,208,124 (GRCm39) Q244R possibly damaging Het
Pcdh9 C A 14: 94,124,851 (GRCm39) V317F probably damaging Het
Pkhd1l1 A T 15: 44,361,417 (GRCm39) Q489L probably damaging Het
Poln A T 5: 34,286,675 (GRCm39) S164R probably benign Het
Ptf1a T C 2: 19,450,762 (GRCm39) S31P probably benign Het
Rasal3 A T 17: 32,618,312 (GRCm39) D164E probably benign Het
Rnf170 A G 8: 26,630,891 (GRCm39) E168G probably damaging Het
Rubcn A G 16: 32,656,778 (GRCm39) probably null Het
Sec16b A T 1: 157,389,094 (GRCm39) T830S possibly damaging Het
Sel1l3 A G 5: 53,289,175 (GRCm39) V882A probably benign Het
Sfpq A G 4: 126,919,791 (GRCm39) E512G probably damaging Het
Sh3pxd2a A G 19: 47,302,518 (GRCm39) L187P probably damaging Het
Skint6 C T 4: 113,095,533 (GRCm39) G42D possibly damaging Het
Slc7a2 A G 8: 41,367,023 (GRCm39) I526V probably benign Het
Spmip7 T C 11: 11,438,652 (GRCm39) probably null Het
Ssh2 A T 11: 77,320,624 (GRCm39) N328Y probably damaging Het
Taok2 G A 7: 126,467,304 (GRCm39) S167L possibly damaging Het
Tom1l2 A G 11: 60,139,844 (GRCm39) L275P probably damaging Het
Trgv5 A G 13: 19,376,724 (GRCm39) K57R probably benign Het
Tyrp1 C T 4: 80,763,180 (GRCm39) R356* probably null Het
Zan A G 5: 137,440,375 (GRCm39) L1953P unknown Het
Zfhx3 T C 8: 109,520,842 (GRCm39) S655P probably damaging Het
Zmym1 T C 4: 126,948,090 (GRCm39) T94A probably benign Het
Other mutations in Coq2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8903:Coq2 UTSW 5 100,811,656 (GRCm39) utr 5 prime probably benign
Predicted Primers PCR Primer
(F):5'- TTCCTTGCCTAGTGAACAGGG -3'
(R):5'- GAGAGAGCAGTGTTGGTTGTATAAC -3'

Sequencing Primer
(F):5'- TAAGGTCGAACCTGGTGAG -3'
(R):5'- GTTCCTGGTATTAGGACAAG -3'
Posted On 2015-12-29