Mutagenetix > Incidental Mutation

Incidental Mutation 'R1340:Mtarc2'

156981

Institutional Source

Beutler Lab

Gene Symbol

Mtarc2

Ensembl Gene

ENSMUSG00000073481

Gene Name

mitochondrial amidoxime reducing component 2

Synonyms

Marc2, Mosc2, 2810484M10Rik

MMRRC Submission

039405-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R1340 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

184545265-184578648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 184554744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 254 (T254A)

Ref Sequence

ENSEMBL: ENSMUSP00000066715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068725] [ENSMUST00000161821]

AlphaFold

Q922Q1

Predicted Effect

probably benign
Transcript: ENSMUST00000068725
AA Change: T254A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000066715
Gene: ENSMUSG00000073481
AA Change: T254A

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
AA Change: T161A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000125374
Gene: ENSMUSG00000073481
AA Change: T161A

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: ENSMUST00000162261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162866

Meta Mutation Damage Score

0.1609

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.9%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,628,581 (GRCm39)		probably benign	Het
Acat3	C	T	17: 13,148,564 (GRCm39)		probably benign	Het
Actn1	T	C	12: 80,219,918 (GRCm39)		probably null	Het
Adam8	G	A	7: 139,571,290 (GRCm39)	S38F	probably damaging	Het
Aldh9a1	T	G	1: 167,184,913 (GRCm39)	I275S	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Alms1	G	A	6: 85,644,939 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,113,695 (GRCm39)	N1289S	probably benign	Het
Cacna1d	A	G	14: 29,794,024 (GRCm39)	V1539A	probably damaging	Het
Cacna1e	A	G	1: 154,348,403 (GRCm39)	L724P	probably damaging	Het
Ccdc110	A	G	8: 46,395,218 (GRCm39)	T370A	probably benign	Het
Ccdc9	G	A	7: 16,009,315 (GRCm39)		probably benign	Het
Cep120	A	T	18: 53,857,463 (GRCm39)	V334E	probably damaging	Het
Ces3a	C	T	8: 105,784,545 (GRCm39)	P462L	probably damaging	Het
Cgref1	A	G	5: 31,102,690 (GRCm39)		probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Csrnp3	T	A	2: 65,832,740 (GRCm39)	F81Y	probably damaging	Het
Ddr2	T	C	1: 169,825,653 (GRCm39)	T316A	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epb41l5	A	T	1: 119,476,861 (GRCm39)	*740R	probably null	Het
Gfpt2	A	G	11: 49,723,688 (GRCm39)	K559E	probably damaging	Het
Gm2381	A	G	7: 42,469,828 (GRCm39)	Y99H	possibly damaging	Het
Gsdma2	T	C	11: 98,548,475 (GRCm39)	V242A	probably damaging	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrriq4	A	C	3: 30,704,472 (GRCm39)	T167P	possibly damaging	Het
Naip2	G	A	13: 100,325,630 (GRCm39)	L93F	possibly damaging	Het
Nefh	G	GNNNNNNNNNNNNNNNNNN	11: 4,891,002 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,160,836 (GRCm39)	S321P	probably damaging	Het
Nt5c1b	T	C	12: 10,427,276 (GRCm39)	V342A	probably damaging	Het
Nt5c3	A	G	6: 56,860,018 (GRCm39)	M273T	probably benign	Het
Or12j2	A	G	7: 139,916,038 (GRCm39)	T88A	probably benign	Het
Or1l4b	T	G	2: 37,036,769 (GRCm39)	L182V	probably benign	Het
Or6b1	G	A	6: 42,814,943 (GRCm39)	V43M	probably benign	Het
Polr3f	A	G	2: 144,380,548 (GRCm39)	H297R	probably benign	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Ptpro	C	T	6: 137,418,079 (GRCm39)	P142L	possibly damaging	Het
Rps17	A	G	7: 80,993,481 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,815,437 (GRCm39)	S132P	probably damaging	Het
Sacs	T	C	14: 61,441,958 (GRCm39)	S1335P	probably damaging	Het
Senp6	T	C	9: 80,029,305 (GRCm39)	V383A	possibly damaging	Het
Skint7	T	C	4: 111,837,416 (GRCm39)	F65L	probably damaging	Het
Slc35f1	T	C	10: 52,965,550 (GRCm39)	Y322H	probably damaging	Het
Slc38a4	C	A	15: 96,908,153 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox15	T	A	11: 69,546,373 (GRCm39)	S59T	probably damaging	Het
Srcap	T	A	7: 127,159,910 (GRCm39)		probably benign	Het
Txlnb	A	T	10: 17,718,488 (GRCm39)	I440F	probably damaging	Het
Vmn1r178	A	G	7: 23,593,281 (GRCm39)	S37G	probably benign	Het
Vmn2r75	T	C	7: 85,797,798 (GRCm39)	T672A	probably damaging	Het
Wscd1	T	C	11: 71,659,586 (GRCm39)	V222A	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
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
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'- TGTAGTCAGAACGCACCTGTCAAAG -3'
(R):5'- TGTTCTTGCTGACCTGGCAGAATC -3'

Sequencing Primer
(F):5'- CCTGTCAAAGGCCAGGGTTAG -3'
(R):5'- ACAGGCATTGGGTTCCATAC -3'

Posted On

2014-02-11