Incidental Mutation 'R6550:Mtarc2'
ID |
521474 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtarc2
|
Ensembl Gene |
ENSMUSG00000073481 |
Gene Name |
mitochondrial amidoxime reducing component 2 |
Synonyms |
Marc2, Mosc2, 2810484M10Rik |
MMRRC Submission |
044675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R6550 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
184545265-184578648 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 184551539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 299
(R299L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068725]
[ENSMUST00000161821]
|
AlphaFold |
Q922Q1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068725
AA Change: R299L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066715 Gene: ENSMUSG00000073481 AA Change: R299L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
low complexity region
|
41 |
49 |
N/A |
INTRINSIC |
Pfam:MOSC_N
|
54 |
175 |
4.6e-41 |
PFAM |
Pfam:MOSC
|
200 |
334 |
1.9e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157934
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159293
|
SMART Domains |
Protein: ENSMUSP00000124809 Gene: ENSMUSG00000073481
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
low complexity region
|
38 |
46 |
N/A |
INTRINSIC |
Pfam:MOSC_N
|
51 |
172 |
1.8e-41 |
PFAM |
Pfam:MOSC
|
184 |
256 |
2.5e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161341
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161359
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161821
|
SMART Domains |
Protein: ENSMUSP00000125374 Gene: ENSMUSG00000073481
Domain | Start | End | E-Value | Type |
Pfam:MOSC_N
|
1 |
82 |
9e-24 |
PFAM |
Pfam:MOSC
|
94 |
190 |
2.4e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162866
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162261
|
Meta Mutation Damage Score |
0.9526 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
98% (39/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apbb1ip |
A |
G |
2: 22,748,245 (GRCm39) |
D355G |
probably damaging |
Het |
Asz1 |
T |
C |
6: 18,051,380 (GRCm39) |
D433G |
probably damaging |
Het |
Atl3 |
A |
G |
19: 7,499,503 (GRCm39) |
T256A |
probably benign |
Het |
Atp8b4 |
T |
A |
2: 126,266,113 (GRCm39) |
T183S |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,167,477 (GRCm39) |
H1293Y |
possibly damaging |
Het |
Bin2 |
A |
G |
15: 100,543,358 (GRCm39) |
V243A |
probably benign |
Het |
Camta1 |
A |
C |
4: 151,222,832 (GRCm39) |
F908L |
probably damaging |
Het |
Cbx2 |
T |
C |
11: 118,919,851 (GRCm39) |
V472A |
possibly damaging |
Het |
Cd22 |
T |
C |
7: 30,576,977 (GRCm39) |
D110G |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,631,220 (GRCm39) |
D764E |
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,874,674 (GRCm39) |
I1321T |
unknown |
Het |
Cyp2c67 |
G |
T |
19: 39,605,854 (GRCm39) |
Y347* |
probably null |
Het |
D630044L22Rik |
A |
T |
17: 26,180,628 (GRCm39) |
R66S |
possibly damaging |
Het |
Defa27 |
A |
C |
8: 21,806,340 (GRCm39) |
R46S |
possibly damaging |
Het |
E330034G19Rik |
A |
G |
14: 24,346,886 (GRCm39) |
M58V |
probably benign |
Het |
Efhb |
G |
T |
17: 53,728,968 (GRCm39) |
H574N |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Erlin1 |
A |
T |
19: 44,025,602 (GRCm39) |
|
probably null |
Het |
Gm10912 |
C |
T |
2: 103,896,996 (GRCm39) |
T45I |
possibly damaging |
Het |
Hsh2d |
C |
A |
8: 72,952,297 (GRCm39) |
T156K |
probably benign |
Het |
Lrrc49 |
G |
T |
9: 60,584,430 (GRCm39) |
Q139K |
probably benign |
Het |
Map3k21 |
A |
G |
8: 126,664,031 (GRCm39) |
S531G |
probably damaging |
Het |
Mcm2 |
A |
G |
6: 88,863,941 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
C |
9: 59,775,482 (GRCm39) |
F1031S |
probably damaging |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or2n1d |
C |
T |
17: 38,646,896 (GRCm39) |
P283S |
possibly damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,246,839 (GRCm39) |
V237A |
possibly damaging |
Het |
Polrmt |
C |
A |
10: 79,575,514 (GRCm39) |
Q672H |
probably damaging |
Het |
Pp2d1 |
T |
C |
17: 53,822,604 (GRCm39) |
D154G |
probably damaging |
Het |
Rars1 |
T |
C |
11: 35,724,010 (GRCm39) |
I57V |
probably benign |
Het |
Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
Slc8b1 |
A |
G |
5: 120,662,082 (GRCm39) |
E257G |
probably damaging |
Het |
Spata31e3 |
G |
A |
13: 50,399,482 (GRCm39) |
P948L |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,640,519 (GRCm39) |
V206A |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tmem87b |
T |
A |
2: 128,666,385 (GRCm39) |
H77Q |
possibly damaging |
Het |
Tpr |
C |
T |
1: 150,299,728 (GRCm39) |
L1200F |
probably damaging |
Het |
Trir |
G |
T |
8: 85,756,549 (GRCm39) |
V154L |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,101,032 (GRCm39) |
V195A |
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,526,685 (GRCm39) |
I96V |
probably benign |
Het |
|
Other mutations in Mtarc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01010:Mtarc2
|
APN |
1 |
184,551,513 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01326:Mtarc2
|
APN |
1 |
184,566,048 (GRCm39) |
splice site |
probably benign |
|
IGL01386:Mtarc2
|
APN |
1 |
184,551,413 (GRCm39) |
unclassified |
probably benign |
|
IGL01636:Mtarc2
|
APN |
1 |
184,564,838 (GRCm39) |
missense |
probably benign |
0.25 |
LCD18:Mtarc2
|
UTSW |
1 |
184,554,985 (GRCm39) |
intron |
probably benign |
|
R0594:Mtarc2
|
UTSW |
1 |
184,573,536 (GRCm39) |
missense |
probably benign |
0.00 |
R1340:Mtarc2
|
UTSW |
1 |
184,554,744 (GRCm39) |
missense |
probably benign |
0.05 |
R3797:Mtarc2
|
UTSW |
1 |
184,573,505 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4899:Mtarc2
|
UTSW |
1 |
184,577,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R4960:Mtarc2
|
UTSW |
1 |
184,566,116 (GRCm39) |
missense |
probably benign |
0.00 |
R5734:Mtarc2
|
UTSW |
1 |
184,564,786 (GRCm39) |
missense |
probably benign |
0.01 |
R6266:Mtarc2
|
UTSW |
1 |
184,566,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R6331:Mtarc2
|
UTSW |
1 |
184,551,525 (GRCm39) |
missense |
probably damaging |
0.98 |
R6986:Mtarc2
|
UTSW |
1 |
184,573,460 (GRCm39) |
missense |
probably benign |
|
R7569:Mtarc2
|
UTSW |
1 |
184,573,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7610:Mtarc2
|
UTSW |
1 |
184,551,483 (GRCm39) |
missense |
probably benign |
0.11 |
R8152:Mtarc2
|
UTSW |
1 |
184,573,509 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8363:Mtarc2
|
UTSW |
1 |
184,566,055 (GRCm39) |
critical splice donor site |
probably null |
|
R9101:Mtarc2
|
UTSW |
1 |
184,554,687 (GRCm39) |
missense |
probably null |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAGTTGTAGACACAAAGGG -3'
(R):5'- GAGTTGTGAGTCCAAGGTACC -3'
Sequencing Primer
(F):5'- GGAAACTTACCGTGTCAGCCATG -3'
(R):5'- TAGCCTGAAGAGCAGTCT -3'
|
Posted On |
2018-06-06 |