Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Mpo'

47602

Institutional Source

Beutler Lab

Gene Symbol

Mpo

Ensembl Gene

ENSMUSG00000009350

Gene Name

myeloperoxidase

Synonyms

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87793581-87804413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87803504 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 107 (S107P)

Ref Sequence

ENSEMBL: ENSMUSP00000128484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020779] [ENSMUST00000103177] [ENSMUST00000107930] [ENSMUST00000121303] [ENSMUST00000146650]

AlphaFold

P11247

Predicted Effect

probably benign
Transcript: ENSMUST00000020779
AA Change: S687P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350
AA Change: S687P

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: ENSMUST00000103177

SMART Domains

Protein: ENSMUSP00000099466
Gene: ENSMUSG00000009356

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:An_peroxidase	136	682	1.8e-180	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: S687P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350
AA Change: S687P

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: ENSMUST00000146650
AA Change: S107P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128484
Gene: ENSMUSG00000009350
AA Change: S107P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167903

Meta Mutation Damage Score

0.1049

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,538,096	C378*	probably null	Het
Ago3	T	C	4: 126,417,252	D56G	possibly damaging	Het
Ahnak	G	T	19: 9,009,128	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,433,526	G470D	probably damaging	Het
Ankub1	T	A	3: 57,690,375	N58I	probably damaging	Het
Apol7b	G	T	15: 77,425,528	T23K	probably benign	Het
Arap2	G	A	5: 62,606,131	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 102,875,777	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,589,812	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,470,992	C109S	probably damaging	Het
Catsperd	A	G	17: 56,658,078	K475R	possibly damaging	Het
Cblb	A	G	16: 52,204,480	T913A	probably benign	Het
Cbx6	A	G	15: 79,828,203	L341P	probably benign	Het
Cd177	T	C	7: 24,758,356	Y159C	probably damaging	Het
Cdh7	A	G	1: 110,100,114	N530D	probably damaging	Het
Cdk8	T	C	5: 146,298,872	F270L	probably damaging	Het
Ces2c	A	T	8: 104,848,024	T38S	probably damaging	Het
Chst14	T	C	2: 118,927,721	L357P	probably damaging	Het
Clca3b	T	A	3: 144,822,866		probably benign	Het
Cluh	A	G	11: 74,664,894	S839G	probably benign	Het
Cnga4	T	A	7: 105,407,740	V350E	probably damaging	Het
Creb1	G	A	1: 64,570,267	G180R	probably damaging	Het
Csmd3	T	C	15: 48,457,511	E301G	probably benign	Het
Cyp4f18	A	T	8: 71,996,000	D268E	probably benign	Het
Dock5	A	G	14: 67,784,792		probably benign	Het
Dpy19l4	T	A	4: 11,289,715	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153	H224L	probably benign	Het
Dzip1l	C	A	9: 99,663,081	Q585K	possibly damaging	Het
Erf	C	T	7: 25,244,376	G510D	probably damaging	Het
Fanci	T	C	7: 79,432,178	L623P	probably benign	Het
Fat1	T	C	8: 45,022,951	V1655A	probably damaging	Het
Fat4	T	C	3: 38,888,314	V452A	probably benign	Het
Gal3st4	C	T	5: 138,265,889	G283S	probably benign	Het
Gm5422	A	G	10: 31,250,322		noncoding transcript	Het
Gnal	C	T	18: 67,088,673	T49I	unknown	Het
Gng5	A	G	3: 146,503,348	N57S	probably damaging	Het
Herc1	A	G	9: 66,448,159	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,044,240	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,742,341	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,736,312	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,778,067	E98K	probably damaging	Het
Lepr	G	T	4: 101,773,010		probably benign	Het
Lyst	A	G	13: 13,638,015	H1004R	probably benign	Het
Map3k1	T	A	13: 111,755,764	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013	Q66H	possibly damaging	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Myo7b	A	G	18: 31,964,386		probably null	Het
Myom1	T	C	17: 71,092,220		probably benign	Het
Nalcn	C	T	14: 123,596,614	V50I	possibly damaging	Het
Negr1	A	G	3: 157,160,748		probably benign	Het
Nlrc5	T	G	8: 94,493,125		probably benign	Het
Nyap2	G	A	1: 81,087,312	D14N	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr1490	T	A	19: 13,654,897	I151N	possibly damaging	Het
Olfr91	C	A	17: 37,093,311	G188W	probably damaging	Het
Parp14	A	T	16: 35,841,409	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,027,544	F2347S	probably damaging	Het
Pigf	A	G	17: 87,008,909	V147A	probably benign	Het
Pkhd1	A	T	1: 20,559,469	M637K	probably benign	Het
Plce1	T	C	19: 38,760,138	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,206,648		probably benign	Het
Prag1	T	C	8: 36,103,700	V479A	possibly damaging	Het
Prss33	A	T	17: 23,835,105	D42E	probably benign	Het
Psmb10	A	G	8: 105,937,545	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,800,063	T306A	probably benign	Het
Psmg1	C	T	16: 95,989,487		probably benign	Het
Rc3h2	A	T	2: 37,376,659		probably null	Het
Reln	C	T	5: 21,920,496	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,743,795	H101Q	probably benign	Het
Selenoi	A	G	5: 30,266,956	N385S	probably benign	Het
Slc24a4	T	C	12: 102,131,623		probably null	Het
Slc4a10	G	A	2: 62,250,533	S338N	probably benign	Het
Slfn3	A	T	11: 83,213,160	T286S	probably damaging	Het
Snx29	A	G	16: 11,395,303	D111G	probably benign	Het
Sp8	T	C	12: 118,848,565	S52P	possibly damaging	Het
Srek1	G	T	13: 103,760,590	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864	Q265H	unknown	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tatdn2	C	A	6: 113,702,589	D298E	probably benign	Het
Tmem253	A	T	14: 52,017,206		probably benign	Het
Tmem63a	T	A	1: 180,958,049		probably null	Het
Tmprss11b	T	C	5: 86,661,640	D331G	probably damaging	Het
Tor1aip1	T	A	1: 156,007,674	K143*	probably null	Het
Trappc8	A	T	18: 20,844,188	N841K	possibly damaging	Het
Trio	T	C	15: 27,854,963	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306	T114N	probably damaging	Het
Trpv2	C	A	11: 62,582,906	A129D	probably benign	Het
Ttll4	T	G	1: 74,688,618	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,336,649	L172P	possibly damaging	Het
Usp19	T	A	9: 108,494,487	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,805,944	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,357,759	D443E	probably benign	Het
Wee2	A	T	6: 40,463,253	E445V	probably benign	Het
Zer1	A	T	2: 30,101,807	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,402,735	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,309,055	Q157*	probably null	Het
Zfp964	T	A	8: 69,663,937	C396S	unknown	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
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
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
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'- AAGTGCCAAAAGTCTCCCGCTGAC -3'
(R):5'- TGTGATTCCCACTAGCCAACCAGG -3'

Sequencing Primer
(F):5'- TCGTAAAAAGGTGTCCCAGTC -3'
(R):5'- GTATACCCTTCAGTGTGCCAAG -3'

Posted On

2013-06-12