Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Mpo'

586177

Institutional Source

Beutler Lab

Gene Symbol

Mpo

Ensembl Gene

ENSMUSG00000009350

Gene Name

myeloperoxidase

Synonyms

MMRRC Submission

045659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87684610-87695238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87688403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 354 (D354G)

Ref Sequence

ENSEMBL: ENSMUSP00000020779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020779] [ENSMUST00000107930] [ENSMUST00000121303] [ENSMUST00000143021] [ENSMUST00000146650]

AlphaFold

P11247

Predicted Effect

probably benign
Transcript: ENSMUST00000020779
AA Change: D354G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350
AA Change: D354G

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: D354G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350
AA Change: D354G

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000146650

SMART Domains

Protein: ENSMUSP00000128484
Gene: ENSMUSG00000009350

Domain	Start	End	E-Value	Type
Pfam:An_peroxidase	1	112	2.4e-32	PFAM

Meta Mutation Damage Score

0.0868

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,366,917 (GRCm39)	I49F		Het
1810055G02Rik	T	A	19: 3,765,728 (GRCm39)	M1K	probably null	Het
Abcb1b	G	A	5: 8,878,866 (GRCm39)	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,509,867 (GRCm39)	V412D	probably benign	Het
Alk	C	T	17: 72,207,787 (GRCm39)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,015,953 (GRCm39)	W266R	possibly damaging	Het
Arhgef18	A	G	8: 3,434,918 (GRCm39)	R188G	probably damaging	Het
Atp2c2	A	T	8: 120,478,008 (GRCm39)	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,648,718 (GRCm39)	I28L	probably benign	Het
C2cd3	A	G	7: 100,068,914 (GRCm39)	D536G		Het
Cacna1c	A	G	6: 118,581,406 (GRCm39)	S1733P		Het
Cacna1e	T	C	1: 154,601,911 (GRCm39)		probably benign	Het
Capns1	A	G	7: 29,891,960 (GRCm39)	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015 (GRCm39)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,159,329 (GRCm39)	T2151A	probably benign	Het
Cenpe	T	A	3: 134,953,220 (GRCm39)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,667,520 (GRCm39)	H521R	probably benign	Het
Crygs	T	A	16: 22,624,069 (GRCm39)	*179C	probably null	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cul9	T	C	17: 46,830,836 (GRCm39)	T1686A	probably benign	Het
Cutc	T	C	19: 43,748,382 (GRCm39)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,934,105 (GRCm39)	T26A	probably benign	Het
Dnah9	A	G	11: 66,016,041 (GRCm39)	V400A	probably benign	Het
Dysf	A	T	6: 84,107,104 (GRCm39)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,343,667 (GRCm39)	E55K	probably benign	Het
Fam151a	A	G	4: 106,600,502 (GRCm39)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,671,533 (GRCm39)	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691 (GRCm39)	M41K	probably benign	Het
Gm9195	T	C	14: 72,694,122 (GRCm39)	Q1531R	probably null	Het
Gpr6	A	T	10: 40,946,868 (GRCm39)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,140,283 (GRCm39)	S234R	probably benign	Het
Itga4	A	G	2: 79,103,337 (GRCm39)	T143A	probably benign	Het
Kcnq2	A	G	2: 180,723,382 (GRCm39)	S693P	probably benign	Het
Kif13b	A	G	14: 65,041,107 (GRCm39)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,785,211 (GRCm39)	V72A	probably benign	Het
Krt1c	T	A	15: 101,722,954 (GRCm39)	D348V	probably benign	Het
Map4k2	A	T	19: 6,394,094 (GRCm39)	E300D	probably benign	Het
Mars1	A	G	10: 127,138,679 (GRCm39)		probably null	Het
Mrpl15	T	C	1: 4,847,778 (GRCm39)	T174A	probably damaging	Het
Myom2	G	A	8: 15,172,450 (GRCm39)	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,297,082 (GRCm39)	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,320,468 (GRCm39)		probably null	Het
Nlrp9b	T	C	7: 19,753,125 (GRCm39)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,377,232 (GRCm39)	S53G	probably benign	Het
Or13a22	G	A	7: 140,072,912 (GRCm39)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,146,277 (GRCm39)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,416,677 (GRCm39)	M309T	probably benign	Het
Or52z13	C	T	7: 103,246,735 (GRCm39)	L71F	probably benign	Het
Or8b54	A	T	9: 38,686,791 (GRCm39)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,148,977 (GRCm39)	V248I	probably benign	Het
Pak5	A	G	2: 135,958,225 (GRCm39)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,487,809 (GRCm39)	F234L	probably benign	Het
Plekhm2	T	C	4: 141,358,658 (GRCm39)	N616D	probably benign	Het
Pnkp	C	T	7: 44,506,852 (GRCm39)	R9C	probably damaging	Het
Prom1	A	G	5: 44,213,272 (GRCm39)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,014,579 (GRCm39)	W1243R	probably benign	Het
Rad17	C	T	13: 100,765,974 (GRCm39)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,349,310 (GRCm39)	C3804R		Het
Ros1	T	A	10: 52,046,072 (GRCm39)	T153S	probably benign	Het
Sema4g	T	C	19: 44,986,010 (GRCm39)	S284P	probably damaging	Het
Septin9	C	T	11: 117,090,571 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,574,569 (GRCm39)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,398,256 (GRCm39)	F674L	probably benign	Het
Slfn5	A	T	11: 82,849,585 (GRCm39)	K361N	probably damaging	Het
Smad6	A	G	9: 63,929,052 (GRCm39)	L88S	unknown	Het
Smarca4	T	A	9: 21,550,371 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,735,240 (GRCm39)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,141,234 (GRCm39)	Q1166*	probably null	Het
Stap1	A	G	5: 86,238,854 (GRCm39)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,724,138 (GRCm39)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,884,372 (GRCm39)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,135,455 (GRCm39)	D940E	probably benign	Het
Trim27	T	A	13: 21,364,770 (GRCm39)	C36S	probably damaging	Het
Unc80	G	A	1: 66,560,696 (GRCm39)	G808D	probably damaging	Het
Usp17ld	G	T	7: 102,900,094 (GRCm39)	Y279*	probably null	Het
Usp40	G	A	1: 87,913,794 (GRCm39)	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,049,843 (GRCm39)	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,095,787 (GRCm39)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,407,741 (GRCm39)	I137L	probably benign	Het

Other mutations in Mpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Mpo	APN	11	87,693,443 (GRCm39)	missense	probably benign
IGL00668:Mpo	APN	11	87,688,160 (GRCm39)	missense	probably benign	0.01
IGL01016:Mpo	APN	11	87,688,436 (GRCm39)	splice site	probably null
IGL01517:Mpo	APN	11	87,686,647 (GRCm39)	missense	possibly damaging	0.83
IGL01530:Mpo	APN	11	87,692,017 (GRCm39)	missense	probably benign	0.00
IGL02123:Mpo	APN	11	87,685,621 (GRCm39)	missense	probably benign	0.05
BB001:Mpo	UTSW	11	87,685,666 (GRCm39)	missense	probably damaging	1.00
BB011:Mpo	UTSW	11	87,685,666 (GRCm39)	missense	probably damaging	1.00
R0091:Mpo	UTSW	11	87,692,436 (GRCm39)	missense	probably benign	0.06
R0458:Mpo	UTSW	11	87,687,123 (GRCm39)	missense	probably benign	0.35
R0506:Mpo	UTSW	11	87,694,330 (GRCm39)	missense	probably benign	0.00
R0574:Mpo	UTSW	11	87,686,902 (GRCm39)	missense	probably damaging	0.99
R0850:Mpo	UTSW	11	87,688,328 (GRCm39)	missense	probably damaging	1.00
R1488:Mpo	UTSW	11	87,688,256 (GRCm39)	missense	probably damaging	1.00
R1753:Mpo	UTSW	11	87,686,707 (GRCm39)	missense	probably benign	0.06
R1785:Mpo	UTSW	11	87,688,187 (GRCm39)	missense	possibly damaging	0.90
R1891:Mpo	UTSW	11	87,692,106 (GRCm39)	nonsense	probably null
R1989:Mpo	UTSW	11	87,694,298 (GRCm39)	missense	probably damaging	1.00
R2107:Mpo	UTSW	11	87,686,901 (GRCm39)	missense	probably damaging	1.00
R2108:Mpo	UTSW	11	87,686,901 (GRCm39)	missense	probably damaging	1.00
R2130:Mpo	UTSW	11	87,688,187 (GRCm39)	missense	possibly damaging	0.90
R2132:Mpo	UTSW	11	87,688,187 (GRCm39)	missense	possibly damaging	0.90
R3930:Mpo	UTSW	11	87,691,866 (GRCm39)	missense	probably damaging	1.00
R3931:Mpo	UTSW	11	87,691,866 (GRCm39)	missense	probably damaging	1.00
R3941:Mpo	UTSW	11	87,688,175 (GRCm39)	missense	probably benign	0.02
R4323:Mpo	UTSW	11	87,686,865 (GRCm39)	missense	probably damaging	1.00
R4857:Mpo	UTSW	11	87,687,107 (GRCm39)	missense	probably benign
R4892:Mpo	UTSW	11	87,693,507 (GRCm39)	missense	probably benign	0.00
R5224:Mpo	UTSW	11	87,687,283 (GRCm39)	unclassified	probably benign
R5250:Mpo	UTSW	11	87,694,259 (GRCm39)	missense	probably benign	0.03
R5373:Mpo	UTSW	11	87,694,437 (GRCm39)	critical splice donor site	probably null
R5374:Mpo	UTSW	11	87,694,437 (GRCm39)	critical splice donor site	probably null
R5408:Mpo	UTSW	11	87,691,851 (GRCm39)	splice site	probably null
R5708:Mpo	UTSW	11	87,692,581 (GRCm39)	splice site	probably null
R6354:Mpo	UTSW	11	87,688,172 (GRCm39)	missense	possibly damaging	0.89
R6598:Mpo	UTSW	11	87,690,798 (GRCm39)	missense	probably benign	0.43
R6713:Mpo	UTSW	11	87,686,194 (GRCm39)	missense	probably damaging	1.00
R7053:Mpo	UTSW	11	87,694,336 (GRCm39)	missense	probably damaging	0.99
R7395:Mpo	UTSW	11	87,691,950 (GRCm39)	missense	probably damaging	1.00
R7924:Mpo	UTSW	11	87,685,666 (GRCm39)	missense	probably damaging	1.00
R8152:Mpo	UTSW	11	87,692,475 (GRCm39)	missense	probably benign
R8285:Mpo	UTSW	11	87,688,393 (GRCm39)	missense	probably benign	0.05
R8776:Mpo	UTSW	11	87,693,538 (GRCm39)	missense	possibly damaging	0.50
R8776-TAIL:Mpo	UTSW	11	87,693,538 (GRCm39)	missense	possibly damaging	0.50
R8807:Mpo	UTSW	11	87,687,165 (GRCm39)	missense	probably benign	0.05
R8829:Mpo	UTSW	11	87,694,250 (GRCm39)	missense	probably damaging	1.00
R9037:Mpo	UTSW	11	87,688,557 (GRCm39)	unclassified	probably benign
R9272:Mpo	UTSW	11	87,686,693 (GRCm39)	missense	probably benign	0.01
R9535:Mpo	UTSW	11	87,690,794 (GRCm39)	missense	probably damaging	1.00
R9746:Mpo	UTSW	11	87,694,349 (GRCm39)	missense	probably benign
RF018:Mpo	UTSW	11	87,688,465 (GRCm39)	missense	probably damaging	1.00
Z1088:Mpo	UTSW	11	87,686,071 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TGCTGTAGATCCCACCCAATG -3'
(R):5'- AAGTTGTTGAGACCAGCATCTC -3'

Sequencing Primer
(F):5'- CGGCATGCACCAGGAAC -3'
(R):5'- TTGAGACCAGCATCTCTTATCACAAG -3'

Posted On

2019-10-24