Incidental Mutation 'R3797:Mtarc2'
| ID |
272785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtarc2
|
| Ensembl Gene |
ENSMUSG00000073481 |
| Gene Name |
mitochondrial amidoxime reducing component 2 |
| Synonyms |
Marc2, Mosc2, 2810484M10Rik |
| MMRRC Submission |
040758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3797 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
184545265-184578648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 184573505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 131
(E131G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068725]
[ENSMUST00000161821]
|
| AlphaFold |
Q922Q1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068725
AA Change: E131G
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
AA Change: E131G
| 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: 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: ENSMUST00000160982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161821
AA Change: E38G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000125374
Gene: ENSMUSG00000073481
AA Change: E38G
| 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: ENSMUST00000162501
|
| SMART Domains |
Protein: ENSMUSP00000125039
Gene: ENSMUSG00000073481
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MOSC_N
|
1 |
93 |
5.9e-29 |
PFAM |
|
Pfam:MOSC
|
105 |
173 |
1.4e-19 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,775,036 (GRCm39) |
G535R |
probably null |
Het |
| Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
| Cdc73 |
A |
T |
1: 143,553,461 (GRCm39) |
D215E |
probably benign |
Het |
| Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
| Clns1a |
G |
A |
7: 97,346,042 (GRCm39) |
G36R |
probably benign |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
| Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
| Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
| Pde4d |
T |
C |
13: 109,769,431 (GRCm39) |
S40P |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,994,773 (GRCm39) |
V285D |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,665,702 (GRCm39) |
K313R |
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 |
|
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 |
|
R6550:Mtarc2
|
UTSW |
1 |
184,551,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AACTCAAAGCTAGTCCTGGGTAC -3'
(R):5'- TCCTTGGGAAATGAGGAAGCTG -3'
Sequencing Primer
(F):5'- GGTACCCTTAACAGTCGCTCAC -3'
(R):5'- AAGCTGTTCTGAGTGTGCCC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation