Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Lpo'

365944

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lpo

Ensembl Gene

ENSMUSG00000009356

Gene Name

lactoperoxidase

Synonyms

5830499B15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

87697254-87716750 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87706004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 273 (M273T)

Ref Sequence

ENSEMBL: ENSMUSP00000099466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103177] [ENSMUST00000136446]

AlphaFold

Q5SW46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103177
AA Change: M273T

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099466
Gene: ENSMUSG00000009356
AA Change: M273T

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: ENSMUST00000136446

SMART Domains

Protein: ENSMUSP00000117763
Gene: ENSMUSG00000009356

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
PDB:4OEK\|A	116	145	4e-7	PDB
SCOP:g1cxp.1	130	145	1e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157004

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the generation of the antimicrobial substance hypothiocyanous acid. This gene is present in a gene cluster on chromosome 17. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6ap1	A	G	X: 73,340,924 (GRCm39)	D47G	probably benign	Het
Atr	T	C	9: 95,747,314 (GRCm39)	F199L	probably benign	Het
Bivm	C	A	1: 44,182,120 (GRCm39)	H443N	probably benign	Het
Btnl2	A	T	17: 34,580,043 (GRCm39)	H192L	probably benign	Het
Ccdc178	A	T	18: 22,253,775 (GRCm39)	C155S	probably benign	Het
Celsr1	C	A	15: 85,785,673 (GRCm39)	V2934L	probably benign	Het
Celsr3	T	C	9: 108,726,652 (GRCm39)	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,115,579 (GRCm39)	E585V	possibly damaging	Het
Elapor2	T	C	5: 9,511,478 (GRCm39)	Y947H	probably damaging	Het
Eps15l1	A	T	8: 73,138,606 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,051,491 (GRCm39)	T70K	probably damaging	Het
Ext2	A	T	2: 93,534,964 (GRCm39)		probably null	Het
Fam124a	G	A	14: 62,793,368 (GRCm39)		probably null	Het
Fam53a	T	C	5: 33,765,103 (GRCm39)	D201G	probably damaging	Het
Fgf14	C	T	14: 124,369,891 (GRCm39)	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,614,623 (GRCm39)	T323S	probably benign	Het
Gemin5	A	T	11: 58,047,556 (GRCm39)	N339K	probably damaging	Het
Golga4	A	G	9: 118,364,522 (GRCm39)	E286G	probably benign	Het
Golga4	A	C	9: 118,363,700 (GRCm39)	K233T	probably damaging	Het
Gosr1	A	G	11: 76,641,732 (GRCm39)		probably benign	Het
Haus8	A	G	8: 71,708,361 (GRCm39)		probably benign	Het
Itgb3bp	T	C	4: 99,690,373 (GRCm39)	T49A	probably null	Het
Ldlrad4	A	G	18: 68,387,585 (GRCm39)	D299G	probably damaging	Het
Map3k4	T	A	17: 12,491,036 (GRCm39)	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,414,715 (GRCm39)	T2566P	probably benign	Het
Nalcn	T	C	14: 123,536,284 (GRCm39)	E1255G	probably null	Het
Nop56	A	T	2: 130,120,117 (GRCm39)	K157N	probably damaging	Het
Or10g9	C	T	9: 39,912,194 (GRCm39)	E110K	probably benign	Het
Or6c1	A	T	10: 129,517,857 (GRCm39)	Y250*	probably null	Het
Pcdh15	A	G	10: 74,340,648 (GRCm39)		probably benign	Het
Pi4ka	T	C	16: 17,172,074 (GRCm39)	H557R	probably damaging	Het
Plekha4	C	T	7: 45,181,787 (GRCm39)	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,345,192 (GRCm39)		probably benign	Het
Rgmb	C	T	17: 16,027,755 (GRCm39)	M321I	probably benign	Het
Rnf31	T	C	14: 55,833,131 (GRCm39)	S363P	probably benign	Het
Sap18b	T	A	8: 96,552,329 (GRCm39)	M113K	probably benign	Het
Scara3	T	A	14: 66,169,105 (GRCm39)	M171L	probably benign	Het
Slc9a2	T	G	1: 40,781,863 (GRCm39)	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,666,368 (GRCm39)	W180*	probably null	Het
Stat6	T	A	10: 127,482,809 (GRCm39)	M10K	probably benign	Het
Sun1	T	C	5: 139,221,243 (GRCm39)		probably benign	Het
Tead2	T	C	7: 44,869,858 (GRCm39)		probably benign	Het
Tjp1	T	G	7: 64,964,638 (GRCm39)	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,206,411 (GRCm39)	S295P	probably damaging	Het
Ttn	G	A	2: 76,612,756 (GRCm39)	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,711,664 (GRCm39)		probably null	Het
Vmn2r108	T	A	17: 20,691,545 (GRCm39)	H326L	probably benign	Het
Xdh	A	G	17: 74,250,840 (GRCm39)		probably null	Het
Zfp385b	A	G	2: 77,242,403 (GRCm39)	S439P	probably benign	Het
Zfp597	G	A	16: 3,683,805 (GRCm39)	S317L	probably benign	Het
Zfp638	A	G	6: 83,946,214 (GRCm39)	D1081G	probably damaging	Het
Zfp93	C	T	7: 23,974,509 (GRCm39)	H165Y	possibly damaging	Het

Other mutations in Lpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Lpo	APN	11	87,711,964 (GRCm39)	missense	probably benign	0.43
IGL01833:Lpo	APN	11	87,698,159 (GRCm39)	missense	possibly damaging	0.81
IGL02413:Lpo	APN	11	87,697,732 (GRCm39)	missense	possibly damaging	0.87
IGL02706:Lpo	APN	11	87,708,599 (GRCm39)	missense	probably benign	0.02
IGL02865:Lpo	APN	11	87,697,803 (GRCm39)	missense	possibly damaging	0.80
R1072:Lpo	UTSW	11	87,709,260 (GRCm39)	missense	probably damaging	1.00
R1169:Lpo	UTSW	11	87,708,143 (GRCm39)	missense	possibly damaging	0.58
R1667:Lpo	UTSW	11	87,698,067 (GRCm39)	unclassified	probably benign
R1719:Lpo	UTSW	11	87,700,018 (GRCm39)	splice site	probably null
R2133:Lpo	UTSW	11	87,711,956 (GRCm39)	missense	probably benign	0.17
R2871:Lpo	UTSW	11	87,707,350 (GRCm39)	missense	possibly damaging	0.51
R2871:Lpo	UTSW	11	87,707,350 (GRCm39)	missense	possibly damaging	0.51
R4382:Lpo	UTSW	11	87,713,027 (GRCm39)	missense	probably benign	0.14
R4657:Lpo	UTSW	11	87,705,173 (GRCm39)	missense	probably damaging	1.00
R4936:Lpo	UTSW	11	87,701,166 (GRCm39)	missense	probably benign	0.02
R4969:Lpo	UTSW	11	87,697,751 (GRCm39)	missense	probably benign	0.09
R5368:Lpo	UTSW	11	87,711,895 (GRCm39)	missense	possibly damaging	0.61
R5536:Lpo	UTSW	11	87,707,389 (GRCm39)	missense	probably damaging	1.00
R6246:Lpo	UTSW	11	87,713,058 (GRCm39)	missense	unknown
R6556:Lpo	UTSW	11	87,708,589 (GRCm39)	nonsense	probably null
R6817:Lpo	UTSW	11	87,700,067 (GRCm39)	missense	probably benign
R7024:Lpo	UTSW	11	87,707,269 (GRCm39)	missense	probably damaging	1.00
R7203:Lpo	UTSW	11	87,700,077 (GRCm39)	missense	possibly damaging	0.75
R7206:Lpo	UTSW	11	87,698,249 (GRCm39)	missense	probably damaging	1.00
R8355:Lpo	UTSW	11	87,705,114 (GRCm39)	missense	probably damaging	1.00
R8455:Lpo	UTSW	11	87,705,114 (GRCm39)	missense	probably damaging	1.00
R8693:Lpo	UTSW	11	87,700,066 (GRCm39)	missense	probably benign	0.04
R8848:Lpo	UTSW	11	87,708,603 (GRCm39)	missense	probably benign	0.00
R8891:Lpo	UTSW	11	87,697,848 (GRCm39)	missense	probably benign	0.08
R8989:Lpo	UTSW	11	87,708,660 (GRCm39)	missense	probably benign	0.00
RF010:Lpo	UTSW	11	87,711,928 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18