Mutagenetix > Incidental Mutations

Incidental Mutation 'R2132:Mpo'

233430

Institutional Source

Beutler Lab

Gene Symbol

Mpo

Ensembl Gene

ENSMUSG00000009350

Gene Name

myeloperoxidase

Synonyms

MMRRC Submission

040135-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2132 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87793581-87804413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87797361 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 282 (D282G)

Ref Sequence

ENSEMBL: ENSMUSP00000112837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020779] [ENSMUST00000107930] [ENSMUST00000121303] [ENSMUST00000143021]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020779
AA Change: D282G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350
AA Change: D282G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:An_peroxidase	147	692	4.2e-183	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107930

SMART Domains

Protein: ENSMUSP00000103563
Gene: ENSMUSG00000009350

Domain	Start	End	E-Value	Type
SCOP:g1cxp.1	82	99	1e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121303
AA Change: D282G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350
AA Change: D282G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:An_peroxidase	147	692	4.2e-183	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130442

Predicted Effect

probably benign
Transcript: ENSMUST00000143021

SMART Domains

Protein: ENSMUSP00000123371
Gene: ENSMUSG00000009350

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PDB:4C1M\|B	139	167	4e-11	PDB
SCOP:g1cxp.1	141	167	4e-10	SMART

Meta Mutation Damage Score

0.3150

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

94% (117/124)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous inactivation of this gene causes neutrophil dysfunction and decreased resistance to fungal infection with Candida, and may lead to enhanced atherosclerosis, reduced neutrophil-mediated lysis of muscle cells, decreased resistance to EAE, and altered asbestos-induced lung inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 87,964,476		probably benign	Het
4930562C15Rik	A	C	16: 4,835,971	Q128P	unknown	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
9130019O22Rik	T	C	7: 127,386,935	D8G	probably benign	Het
9530053A07Rik	C	T	7: 28,155,474	P1842S	probably damaging	Het
Abcc3	T	A	11: 94,367,600	K473M	probably benign	Het
Acacb	TGGGG	TGGG	5: 114,209,767		probably null	Het
Adgrg7	C	A	16: 56,767,918	A199S	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Ap2b1	T	A	11: 83,324,761		probably benign	Het
Atat1	A	G	17: 35,909,439	S54P	probably damaging	Het
Atp13a2	T	A	4: 141,005,016	M864K	probably damaging	Het
B3gnt3	G	A	8: 71,693,327	T186M	probably damaging	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc157	A	T	11: 4,150,004	V116E	probably damaging	Het
Ccdc85a	G	A	11: 28,434,151	T408I	probably benign	Het
Celf1	G	T	2: 91,010,446	G353W	probably damaging	Het
Celsr1	T	A	15: 86,031,967	I602F	possibly damaging	Het
Cenpb	C	T	2: 131,179,306	V191M	probably damaging	Het
Cenpn	G	A	8: 116,934,797		probably null	Het
Cfap65	A	C	1: 74,907,691	C1287G	probably damaging	Het
Cmya5	G	A	13: 93,069,383	T3326I	probably damaging	Het
Cnn3	A	T	3: 121,451,935	E100V	probably damaging	Het
Col4a4	G	A	1: 82,497,860	R583C	unknown	Het
Commd7	A	C	2: 153,621,666		probably benign	Het
Csmd3	T	C	15: 48,457,503	T304A	probably benign	Het
Cyp4a14	A	T	4: 115,491,391	S325R	probably damaging	Het
D730048I06Rik	T	G	9: 35,789,743		probably benign	Het
Dclk2	T	C	3: 86,920,046	N42S	probably benign	Het
Dmrta1	A	T	4: 89,688,709	Q134L	probably damaging	Het
Dnaaf3	T	A	7: 4,523,801	I426L	probably benign	Het
Dnah17	G	A	11: 118,033,747	L3999F	probably damaging	Het
Dock6	A	G	9: 21,846,518	S97P	probably benign	Het
Dsg1a	T	A	18: 20,340,797	S976T	probably damaging	Het
Dstyk	T	A	1: 132,449,484	M29K	probably null	Het
Eif3i	A	T	4: 129,596,926	H18Q	probably benign	Het
Epm2a	A	G	10: 11,343,682	E71G	probably benign	Het
Eps15l1	A	T	8: 72,386,868	V260D	probably benign	Het
Faf1	A	G	4: 109,710,845	N34S	probably damaging	Het
Fat3	A	G	9: 16,246,719		probably null	Het
Fbxw10	T	A	11: 62,859,857	I422N	probably damaging	Het
Fkbp15	C	A	4: 62,327,899	G431W	probably damaging	Het
Flnb	A	C	14: 7,873,376	D224A	probably benign	Het
Flnc	G	A	6: 29,443,676	V566M	probably damaging	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gli3	T	A	13: 15,725,549	S1174T	possibly damaging	Het
Glmn	A	T	5: 107,578,455	V93E	probably damaging	Het
Glrx2	T	C	1: 143,745,104	S74P	possibly damaging	Het
Gm13212	T	A	4: 145,624,233		probably benign	Het
Gm5422	G	A	10: 31,248,933		noncoding transcript	Het
Gpi1	T	C	7: 34,205,914	K362E	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Gxylt1	A	G	15: 93,244,970	*405R	probably null	Het
Heyl	T	C	4: 123,246,083	V145A	probably damaging	Het
Hhipl1	A	C	12: 108,311,690	E92D	probably damaging	Het
Ifi207	A	G	1: 173,729,771	F467S	possibly damaging	Het
Igf2r	A	T	17: 12,722,208	I462N	probably benign	Het
Inpp5b	A	T	4: 124,785,168		probably benign	Het
Kansl2	A	G	15: 98,529,397	I201T	probably damaging	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kcnu1	T	A	8: 25,851,900	I91N	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Klrc3	T	A	6: 129,641,538	Y94F	probably benign	Het
Lgals3bp	T	A	11: 118,393,287	T489S	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Magi1	T	C	6: 93,697,274	E951G	probably damaging	Het
Mcm7	T	C	5: 138,169,102	Q86R	probably damaging	Het
Med12l	G	T	3: 59,265,282		probably null	Het
Morc2a	A	G	11: 3,679,787	E402G	possibly damaging	Het
Mphosph8	T	C	14: 56,678,704	C486R	probably benign	Het
Mtcl1	G	T	17: 66,343,623	H1616N	probably benign	Het
Myh10	A	G	11: 68,807,289		probably benign	Het
Myh8	A	G	11: 67,292,876	E777G	probably damaging	Het
Nid1	A	G	13: 13,509,486	H1186R	probably benign	Het
Nppb	T	A	4: 147,985,997	S8T	probably benign	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr1039	A	G	2: 86,131,261	V134A	possibly damaging	Het
Olfr1451	T	A	19: 12,999,038	D17E	probably benign	Het
Olfr308	C	T	7: 86,321,479	V158M	possibly damaging	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr356	A	G	2: 36,937,692	N191S	probably benign	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pdlim4	A	G	11: 54,063,737	L48S	possibly damaging	Het
Phactr3	T	C	2: 178,283,966	F345L	probably benign	Het
Plcb1	T	A	2: 135,325,667	Y460*	probably null	Het
Prcp	T	A	7: 92,901,280	V95D	probably benign	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Ror1	A	G	4: 100,410,025	N308D	probably benign	Het
Sdccag8	C	A	1: 176,955,889	Q655K	probably damaging	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Skap1	T	C	11: 96,464,733	I10T	possibly damaging	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Smad2	T	A	18: 76,288,084	C161*	probably null	Het
Spata31d1a	G	T	13: 59,701,043	D1090E	probably damaging	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Terf1	A	G	1: 15,805,685	E3G	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tnfrsf26	C	T	7: 143,617,840		probably null	Het
Tor1aip1	A	C	1: 156,007,562	M180R	probably damaging	Het
Trabd2b	A	T	4: 114,610,008	Q478L	probably benign	Het
Trim41	C	A	11: 48,807,592	G516W	probably damaging	Het
Ttc30b	G	T	2: 75,936,785	H541Q	probably damaging	Het
Ttc39a	A	G	4: 109,442,706	Y464C	probably damaging	Het
Unc5a	A	G	13: 54,991,083	S92G	probably damaging	Het
Unc5d	A	C	8: 28,875,529	S143A	possibly damaging	Het
Usp34	A	T	11: 23,464,556	H2833L	possibly damaging	Het
Wdr17	T	G	8: 54,672,506	K446N	probably damaging	Het
Xirp2	A	T	2: 67,508,048	Q211L	possibly damaging	Het
Xkr7	G	A	2: 153,052,896	R256Q	probably benign	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp758	A	G	17: 22,375,970	H479R	probably damaging	Het
Zfp827	A	G	8: 79,185,721	N284S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het

Other mutations in Mpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Mpo	APN	11	87802617	missense	probably benign
IGL00668:Mpo	APN	11	87797334	missense	probably benign	0.01
IGL01016:Mpo	APN	11	87797610	unclassified	probably null
IGL01517:Mpo	APN	11	87795821	missense	possibly damaging	0.83
IGL01530:Mpo	APN	11	87801191	missense	probably benign	0.00
IGL02123:Mpo	APN	11	87794795	missense	probably benign	0.05
R0091:Mpo	UTSW	11	87801610	missense	probably benign	0.06
R0458:Mpo	UTSW	11	87796297	missense	probably benign	0.35
R0506:Mpo	UTSW	11	87803504	missense	probably benign	0.00
R0574:Mpo	UTSW	11	87796076	missense	probably damaging	0.99
R0850:Mpo	UTSW	11	87797502	missense	probably damaging	1.00
R1488:Mpo	UTSW	11	87797430	missense	probably damaging	1.00
R1753:Mpo	UTSW	11	87795881	missense	probably benign	0.06
R1785:Mpo	UTSW	11	87797361	missense	possibly damaging	0.90
R1891:Mpo	UTSW	11	87801280	nonsense	probably null
R1989:Mpo	UTSW	11	87803472	missense	probably damaging	1.00
R2107:Mpo	UTSW	11	87796075	missense	probably damaging	1.00
R2108:Mpo	UTSW	11	87796075	missense	probably damaging	1.00
R2130:Mpo	UTSW	11	87797361	missense	possibly damaging	0.90
R3930:Mpo	UTSW	11	87801040	missense	probably damaging	1.00
R3931:Mpo	UTSW	11	87801040	missense	probably damaging	1.00
R3941:Mpo	UTSW	11	87797349	missense	probably benign	0.02
R4323:Mpo	UTSW	11	87796039	missense	probably damaging	1.00
R4857:Mpo	UTSW	11	87796281	missense	probably benign
R4892:Mpo	UTSW	11	87802681	missense	probably benign	0.00
R5224:Mpo	UTSW	11	87796457	unclassified	probably benign
R5250:Mpo	UTSW	11	87803433	missense	probably benign	0.03
R5373:Mpo	UTSW	11	87803611	critical splice donor site	probably null
R5374:Mpo	UTSW	11	87803611	critical splice donor site	probably null
R5408:Mpo	UTSW	11	87801025	splice site	probably null
R5708:Mpo	UTSW	11	87801755	splice site	probably null
R6354:Mpo	UTSW	11	87797346	missense	possibly damaging	0.89
R6598:Mpo	UTSW	11	87799972	missense	probably benign	0.43
R6713:Mpo	UTSW	11	87795368	missense	probably damaging	1.00
R7053:Mpo	UTSW	11	87803510	missense	probably damaging	0.99
R7395:Mpo	UTSW	11	87801124	missense	probably damaging	1.00
R7573:Mpo	UTSW	11	87797577	missense	probably benign	0.01
RF018:Mpo	UTSW	11	87797639	missense	probably damaging	1.00
Z1088:Mpo	UTSW	11	87795245	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CTGAGCCCCAGTATTTCTATGAAAC -3'
(R):5'- AGGCTGTCAAAGGGCATCAG -3'

Sequencing Primer
(F):5'- ATGAAACCTTGAGAGCTTCCCTG -3'
(R):5'- GCGTGTATTGATAGCCAGCAGC -3'

Posted On

2014-10-01