Incidental Mutation 'IGL02987:Coq2'
ID 406766
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02987
Quality Score
Status
Chromosome 5
Chromosomal Location 100802589-100822154 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 100811554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 103 (Q103*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031262] [ENSMUST00000126981] [ENSMUST00000127811] [ENSMUST00000135801]
AlphaFold Q66JT7
Predicted Effect possibly damaging
Transcript: ENSMUST00000031262
AA Change: A145V

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031262
Gene: ENSMUSG00000029319
AA Change: A145V

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 silent
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 null
Transcript: ENSMUST00000135146
AA Change: Q103*
SMART Domains Protein: ENSMUSP00000122631
Gene: ENSMUSG00000029319
AA Change: Q103*

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 T C 13: 4,643,591 (GRCm39) D222G probably damaging Het
Apbb1ip T A 2: 22,757,649 (GRCm39) Y422* probably null Het
Asf1a T C 10: 53,473,367 (GRCm39) F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,806 (GRCm39) M319K possibly damaging Het
Bsn A G 9: 108,003,503 (GRCm39) S301P probably benign Het
Cds1 A G 5: 101,960,391 (GRCm39) I281V possibly damaging Het
Col4a4 T C 1: 82,476,646 (GRCm39) probably benign Het
Dgkh A G 14: 78,827,312 (GRCm39) probably null Het
Dnah9 A G 11: 65,746,098 (GRCm39) I4005T probably damaging Het
Dnah9 C A 11: 65,732,099 (GRCm39) R4269L probably benign Het
F2rl1 T A 13: 95,650,741 (GRCm39) Q47L probably benign Het
Fhod3 T C 18: 25,246,610 (GRCm39) V1272A possibly damaging Het
Gdpd4 T C 7: 97,610,758 (GRCm39) probably benign Het
Gfral A G 9: 76,104,583 (GRCm39) V143A possibly damaging Het
Gltp A C 5: 114,812,243 (GRCm39) F88V probably benign Het
Hectd1 T G 12: 51,791,550 (GRCm39) K2565T probably damaging Het
Jade2 A G 11: 51,721,308 (GRCm39) S207P probably damaging Het
Khdc3 A G 9: 73,009,948 (GRCm39) I53V possibly damaging Het
Lce1a1 T C 3: 92,554,409 (GRCm39) T22A unknown Het
Lgals9 A T 11: 78,858,303 (GRCm39) H196Q possibly damaging Het
Lrrc37a A T 11: 103,391,239 (GRCm39) N1395K probably benign Het
Mast1 C T 8: 85,652,348 (GRCm39) V268I possibly damaging Het
Myh11 T G 16: 14,050,396 (GRCm39) E523A probably damaging Het
Napb T C 2: 148,539,431 (GRCm39) probably null Het
Nlrp4e G A 7: 23,000,858 (GRCm39) R51H probably damaging Het
Ola1 T C 2: 72,987,242 (GRCm39) D130G probably benign Het
Or8c13 A T 9: 38,091,919 (GRCm39) S67T possibly damaging Het
Pard3 G A 8: 128,115,972 (GRCm39) C687Y probably damaging Het
Rassf9 A G 10: 102,381,109 (GRCm39) T164A possibly damaging Het
Sema3a A G 5: 13,615,863 (GRCm39) Y429C probably damaging Het
Slc25a54 T C 3: 109,023,653 (GRCm39) V416A probably benign Het
Slc30a5 T C 13: 100,940,423 (GRCm39) T631A probably damaging Het
Sorl1 A T 9: 41,952,349 (GRCm39) C736S probably damaging Het
Tet3 A T 6: 83,345,074 (GRCm39) S1788T probably damaging Het
Trim42 A G 9: 97,247,868 (GRCm39) V276A probably benign Het
Other mutations in Coq2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Coq2 APN 5 100,803,180 (GRCm39) missense probably benign 0.00
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
R8903:Coq2 UTSW 5 100,811,656 (GRCm39) utr 5 prime probably benign
Posted On 2016-08-02