Mutagenetix > Incidental Mutation

Incidental Mutation 'R3941:Mpo'

307460

Institutional Source

Beutler Lab

Gene Symbol

Mpo

Ensembl Gene

ENSMUSG00000009350

Gene Name

myeloperoxidase

Synonyms

MMRRC Submission

040923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87793581-87804413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87797349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 278 (K278M)

Ref Sequence

ENSEMBL: ENSMUSP00000112837 (fasta)

Gene Model

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

AlphaFold

P11247

Predicted Effect

probably benign
Transcript: ENSMUST00000020779
AA Change: K278M

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350
AA Change: K278M

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

probably benign
Transcript: ENSMUST00000121303
AA Change: K278M

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350
AA Change: K278M

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

0.1384

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610203C20Rik	T	C	9: 41,590,274	L143P	probably damaging	Het
Abcc1	A	T	16: 14,396,399	T193S	probably benign	Het
Arhgap11a	A	T	2: 113,836,897	L435Q	probably damaging	Het
Bin1	T	C	18: 32,406,158	V48A	probably damaging	Het
Brinp3	C	A	1: 146,751,861	D277E	probably damaging	Het
Btn1a1	T	G	13: 23,459,264	R338S	probably benign	Het
Cacnb4	C	A	2: 52,469,489	R169L	probably damaging	Het
Ccdc80	A	G	16: 45,096,092	T404A	probably benign	Het
Cd2ap	G	C	17: 42,808,799	H488D	probably damaging	Het
Cdon	A	G	9: 35,464,171	T498A	probably benign	Het
Cngb3	A	G	4: 19,396,786	N380D	probably benign	Het
Col6a5	G	A	9: 105,939,834	S426F	unknown	Het
Cr2	A	T	1: 195,165,814	H345Q	probably damaging	Het
Cttnbp2	T	A	6: 18,427,453	K743M	probably benign	Het
Depdc1b	T	C	13: 108,368,836	S245P	probably damaging	Het
Dync2h1	G	A	9: 7,124,825	H2016Y	probably benign	Het
Eif2s3y	G	T	Y: 1,012,079	R98L	probably benign	Het
Eml6	C	T	11: 29,803,167	G915S	probably damaging	Het
Fcgr1	A	G	3: 96,286,033	L216P	probably benign	Het
Fpr-rs3	T	C	17: 20,624,849	N10S	probably benign	Het
Frem3	T	C	8: 80,615,020	I1314T	possibly damaging	Het
Gabrr3	A	G	16: 59,433,501	N194D	probably damaging	Het
Hey1	A	G	3: 8,664,578	L273P	probably damaging	Het
Irf6	A	G	1: 193,168,549	K365E	probably benign	Het
Kit	A	G	5: 75,609,318	D130G	probably benign	Het
Lrp1	G	A	10: 127,553,396	A3217V	probably damaging	Het
Mei4	C	T	9: 81,927,283	R140C	probably benign	Het
Mprip	T	C	11: 59,731,502		probably benign	Het
Mug2	G	C	6: 122,063,563	G691R	probably benign	Het
Neto2	G	A	8: 85,674,118	T16I	probably damaging	Het
Nipal4	C	T	11: 46,150,646	V241M	probably damaging	Het
Nlrp2	A	T	7: 5,327,552	L615*	probably null	Het
Pcdh1	A	G	18: 38,199,458	V164A	probably benign	Het
Phc2	T	C	4: 128,747,244		probably null	Het
Plekhg3	A	G	12: 76,573,359	E623G	probably damaging	Het
Psors1c2	G	T	17: 35,533,928	G29*	probably null	Het
Slc25a54	A	T	3: 109,112,163	D361V	probably damaging	Het
Slc39a12	A	T	2: 14,396,181	H123L	possibly damaging	Het
Sorl1	T	C	9: 41,989,468		probably null	Het
Strn	A	T	17: 78,657,940	I641N	probably damaging	Het
Tapbp	A	G	17: 33,920,483	E151G	possibly damaging	Het
Ticrr	T	C	7: 79,693,697		probably benign	Het
Tnfrsf21	G	A	17: 43,038,010	C171Y	probably damaging	Het
Ttyh1	T	A	7: 4,129,318	L155H	probably damaging	Het
Utrn	T	A	10: 12,711,585		probably null	Het
Vmn1r175	A	G	7: 23,808,968	V78A	probably benign	Het
Vmn1r73	T	C	7: 11,756,755	Y167H	probably damaging	Het
Washc1	T	C	17: 66,118,128	S376P	probably damaging	Het
Wnt10a	T	A	1: 74,803,497		probably null	Het
Xrcc4	A	G	13: 90,071,633	V16A	probably benign	Het
Zeb1	T	C	18: 5,767,799	V770A	probably benign	Het
Zfp410	A	G	12: 84,338,753	N90S	probably 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	splice site	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
BB001:Mpo	UTSW	11	87794840	missense	probably damaging	1.00
BB011:Mpo	UTSW	11	87794840	missense	probably damaging	1.00
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
R2132: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
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
R7924:Mpo	UTSW	11	87794840	missense	probably damaging	1.00
R8152:Mpo	UTSW	11	87801649	missense	probably benign
R8285:Mpo	UTSW	11	87797567	missense	probably benign	0.05
R8776:Mpo	UTSW	11	87802712	missense	possibly damaging	0.50
R8776-TAIL:Mpo	UTSW	11	87802712	missense	possibly damaging	0.50
R8807:Mpo	UTSW	11	87796339	missense	probably benign	0.05
R8829:Mpo	UTSW	11	87803424	missense	probably damaging	1.00
R9037:Mpo	UTSW	11	87797731	unclassified	probably benign
R9272:Mpo	UTSW	11	87795867	missense	probably benign	0.01
R9535:Mpo	UTSW	11	87799968	missense	probably damaging	1.00
R9746:Mpo	UTSW	11	87803523	missense	probably benign
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'- AGTTCAGTGAATTCTTTGTCACCC -3'
(R):5'- CGTGTATTGATAGCCAGCAGC -3'

Sequencing Primer
(F):5'- AAACCTCAGTCTCTTTGCTGACTGAG -3'
(R):5'- TATTGATAGCCAGCAGCCCCAG -3'

Posted On

2015-04-17