Incidental Mutation 'R0051:Coq2'
ID 64282
Institutional Source Beutler Lab
Gene Symbol Coq2
Ensembl Gene ENSMUSG00000029319
Gene Name coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Synonyms 2310002F18Rik
MMRRC Submission 038345-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0051 (G1)
Quality Score 171
Status Validated
Chromosome 5
Chromosomal Location 100802589-100822154 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100811551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 146 (N146S)
Ref Sequence ENSEMBL: ENSMUSP00000031262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031262] [ENSMUST00000126981] [ENSMUST00000127811] [ENSMUST00000135801]
AlphaFold Q66JT7
Predicted Effect probably benign
Transcript: ENSMUST00000031262
AA Change: N146S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000031262
Gene: ENSMUSG00000029319
AA Change: N146S

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 unknown
Transcript: ENSMUST00000135146
AA Change: T104A
SMART Domains Protein: ENSMUSP00000122631
Gene: ENSMUSG00000029319
AA Change: T104A

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
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 100% (64/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,278,526 (GRCm39) noncoding transcript Het
Abr T A 11: 76,363,328 (GRCm39) Q163L probably benign Het
Ankrd11 C A 8: 123,616,481 (GRCm39) C2457F probably damaging Het
Anks3 G C 16: 4,765,613 (GRCm39) T163S probably benign Het
Cacna1d G A 14: 29,833,052 (GRCm39) P908S probably damaging Het
Ccdc146 C A 5: 21,521,902 (GRCm39) R374L possibly damaging Het
Cdc45 G T 16: 18,613,524 (GRCm39) A348E probably damaging Het
Cfap46 A G 7: 139,255,951 (GRCm39) C300R probably damaging Het
Cimap1a C A 7: 140,430,134 (GRCm39) probably benign Het
Dalrd3 T C 9: 108,449,414 (GRCm39) V120A possibly damaging Het
Dcp2 T A 18: 44,538,441 (GRCm39) probably benign Het
Ddx39a A G 8: 84,447,251 (GRCm39) K137R possibly damaging Het
Diaph3 A G 14: 87,274,890 (GRCm39) probably null Het
Dmbt1 G T 7: 130,721,225 (GRCm39) R1668L possibly damaging Het
Dnah7a T G 1: 53,560,245 (GRCm39) probably benign Het
Dpp7 A G 2: 25,246,107 (GRCm39) Y49H possibly damaging Het
Drd5 A G 5: 38,477,957 (GRCm39) S317G probably benign Het
Ecpas A G 4: 58,832,729 (GRCm39) L877S probably damaging Het
Ecsit C T 9: 21,987,584 (GRCm39) V152I probably benign Het
Eeig1 G A 2: 32,448,065 (GRCm39) R58Q possibly damaging Het
Emc1 T A 4: 139,102,474 (GRCm39) M923K possibly damaging Het
Fcrl6 A T 1: 172,426,320 (GRCm39) L159Q probably benign Het
Frrs1 T C 3: 116,678,946 (GRCm39) probably benign Het
Hspd1 A G 1: 55,121,205 (GRCm39) probably benign Het
Impg2 T A 16: 56,078,411 (GRCm39) S458T probably damaging Het
Klf17 T C 4: 117,617,589 (GRCm39) Y256C probably damaging Het
Lnx2 A G 5: 146,966,163 (GRCm39) F319L probably damaging Het
Mafg G T 11: 120,520,430 (GRCm39) R57S probably damaging Het
Med13l T A 5: 118,880,720 (GRCm39) W1271R probably damaging Het
Mrgprb1 A G 7: 48,096,962 (GRCm39) S24P probably benign Het
Mtrf1l T C 10: 5,763,384 (GRCm39) E315G probably damaging Het
Naip1 T C 13: 100,547,509 (GRCm39) E1239G probably damaging Het
Ncaph2 T C 15: 89,253,867 (GRCm39) S320P probably damaging Het
Nek11 A G 9: 105,095,738 (GRCm39) probably benign Het
Nlrp2 A T 7: 5,325,333 (GRCm39) probably benign Het
Rbm26 A C 14: 105,389,976 (GRCm39) V216G possibly damaging Het
Rnf115 A G 3: 96,692,338 (GRCm39) D178G probably damaging Het
Rtel1 C T 2: 180,992,449 (GRCm39) Q424* probably null Het
Rwdd4a A G 8: 47,990,400 (GRCm39) probably benign Het
Ryr3 T C 2: 112,699,420 (GRCm39) D890G probably damaging Het
Scarb1 C A 5: 125,358,164 (GRCm39) probably null Het
Serpina10 A G 12: 103,593,156 (GRCm39) probably benign Het
Slc12a5 T A 2: 164,828,583 (GRCm39) W508R probably damaging Het
Slc43a2 T C 11: 75,453,676 (GRCm39) C225R probably damaging Het
Slc6a9 T C 4: 117,722,056 (GRCm39) F440L probably damaging Het
Stac3 G A 10: 127,344,017 (GRCm39) R305H probably damaging Het
Stk32b A G 5: 37,616,940 (GRCm39) probably benign Het
Syna A T 5: 134,588,397 (GRCm39) L184H probably damaging Het
Tmprss7 T C 16: 45,494,302 (GRCm39) N401S probably damaging Het
Tut4 T G 4: 108,384,201 (GRCm39) S1089R probably damaging Het
Yeats2 T A 16: 20,012,474 (GRCm39) Y557* probably null Het
Zfp352 T C 4: 90,112,522 (GRCm39) S221P probably damaging Het
Zfp575 A G 7: 24,285,512 (GRCm39) V43A probably benign Het
Zfp775 A G 6: 48,597,706 (GRCm39) T527A 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
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
Predicted Primers PCR Primer
(F):5'- CCCTTCACAGGGGTCAATAAGCAG -3'
(R):5'- GGAATGGTGTCACAGCACTTAGCC -3'

Sequencing Primer
(F):5'- TGTAATAAAGAGAATCCCCCTCTATC -3'
(R):5'- ccagaggagggcagcag -3'
Posted On 2013-08-06