Incidental Mutation 'R5232:Coq2'
| ID |
398601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coq2
|
| Ensembl Gene |
ENSMUSG00000029319 |
| Gene Name |
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase |
| Synonyms |
2310002F18Rik |
| MMRRC Submission |
042804-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5232 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
100802589-100822154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100805698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 313
(H313Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031262]
[ENSMUST00000126981]
[ENSMUST00000127811]
[ENSMUST00000135801]
|
| AlphaFold |
Q66JT7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031262
AA Change: H313Y
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031262
Gene: ENSMUSG00000029319
AA Change: H313Y
| 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 |
probably benign
Transcript: ENSMUST00000135146
|
| SMART Domains |
Protein: ENSMUSP00000122631
Gene: ENSMUSG00000029319
| 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 |
|
| Meta Mutation Damage Score |
0.5581 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,157,672 (GRCm39) |
E1295G |
probably damaging |
Het |
| Adarb2 |
C |
A |
13: 8,763,676 (GRCm39) |
H524Q |
possibly damaging |
Het |
| Arhgap26 |
A |
G |
18: 39,126,529 (GRCm39) |
M1V |
probably null |
Het |
| Atp10b |
G |
A |
11: 43,093,006 (GRCm39) |
R447H |
probably damaging |
Het |
| B4galnt3 |
T |
A |
6: 120,209,949 (GRCm39) |
Y58F |
probably damaging |
Het |
| Cdca7l |
A |
G |
12: 117,833,820 (GRCm39) |
E79G |
probably damaging |
Het |
| Chd4 |
C |
G |
6: 125,098,273 (GRCm39) |
P350A |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,483,013 (GRCm39) |
C244* |
probably null |
Het |
| Cyfip2 |
A |
G |
11: 46,133,205 (GRCm39) |
S832P |
probably damaging |
Het |
| Dnaaf1 |
A |
C |
8: 120,317,329 (GRCm39) |
E286A |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,323 (GRCm39) |
K188R |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,052,284 (GRCm39) |
W5R |
possibly damaging |
Het |
| Gm5565 |
T |
A |
5: 146,096,947 (GRCm39) |
Y64F |
possibly damaging |
Het |
| Golga4 |
G |
A |
9: 118,335,626 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,347,760 (GRCm39) |
L4802P |
probably damaging |
Het |
| Hnrnpll |
C |
T |
17: 80,346,107 (GRCm39) |
V385I |
probably damaging |
Het |
| Kctd9 |
A |
T |
14: 67,962,110 (GRCm39) |
D51V |
probably damaging |
Het |
| Lcn9 |
T |
C |
2: 25,714,067 (GRCm39) |
|
probably null |
Het |
| Map1a |
C |
A |
2: 121,132,466 (GRCm39) |
P856H |
probably damaging |
Het |
| Myo5b |
G |
C |
18: 74,848,003 (GRCm39) |
E1080D |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,960,976 (GRCm39) |
I9T |
probably benign |
Het |
| Ndst3 |
A |
T |
3: 123,465,888 (GRCm39) |
I28N |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,122 (GRCm39) |
N424D |
probably damaging |
Het |
| Or11g26 |
T |
A |
14: 50,753,495 (GRCm39) |
V278E |
probably damaging |
Het |
| Or4n5 |
A |
G |
14: 50,133,155 (GRCm39) |
Y35H |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,680 (GRCm39) |
T171A |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,986,317 (GRCm39) |
V605A |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,503,279 (GRCm39) |
M1185K |
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,320,320 (GRCm39) |
H324Q |
probably damaging |
Het |
| Prpf4b |
T |
A |
13: 35,067,573 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,040,987 (GRCm39) |
T421I |
probably benign |
Het |
| Sertad2 |
C |
T |
11: 20,598,344 (GRCm39) |
T180I |
possibly damaging |
Het |
| Sgo2b |
C |
A |
8: 64,381,636 (GRCm39) |
A399S |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,434,841 (GRCm39) |
K1043E |
unknown |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Spock3 |
T |
C |
8: 63,798,843 (GRCm39) |
F288S |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,676,816 (GRCm39) |
I393V |
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,178,214 (GRCm39) |
K429R |
possibly damaging |
Het |
| Vav1 |
T |
C |
17: 57,610,846 (GRCm39) |
F447L |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,916 (GRCm39) |
M662T |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,829,104 (GRCm39) |
Y1152C |
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 |
|
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'- GCACTTGTCAGAGGTCAACAC -3'
(R):5'- AAGACGATGCTCTGATCGG -3'
Sequencing Primer
(F):5'- CTGGAATTCACTCTGTAGACCAGG -3'
(R):5'- ATGCTCTGATCGGCCTGAAGTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation