Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Lpo'

253758

Institutional Source

Beutler Lab

Gene Symbol

Lpo

Ensembl Gene

ENSMUSG00000009356

Gene Name

lactoperoxidase

Synonyms

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87806428-87828289 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87816524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 221 (I221T)

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: I221T

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099466
Gene: ENSMUSG00000009356
AA Change: I221T

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

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het

Other mutations in Lpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Lpo	APN	11	87821138	missense	probably benign	0.43
IGL01833:Lpo	APN	11	87807333	missense	possibly damaging	0.81
IGL02413:Lpo	APN	11	87806906	missense	possibly damaging	0.87
IGL02706:Lpo	APN	11	87817773	missense	probably benign	0.02
IGL02865:Lpo	APN	11	87806977	missense	possibly damaging	0.80
IGL02939:Lpo	APN	11	87815178	missense	possibly damaging	0.85
R1072:Lpo	UTSW	11	87818434	missense	probably damaging	1.00
R1169:Lpo	UTSW	11	87817317	missense	possibly damaging	0.58
R1667:Lpo	UTSW	11	87807241	unclassified	probably benign
R1719:Lpo	UTSW	11	87809192	splice site	probably null
R2133:Lpo	UTSW	11	87821130	missense	probably benign	0.17
R2871:Lpo	UTSW	11	87816524	missense	possibly damaging	0.51
R4382:Lpo	UTSW	11	87822201	missense	probably benign	0.14
R4657:Lpo	UTSW	11	87814347	missense	probably damaging	1.00
R4936:Lpo	UTSW	11	87810340	missense	probably benign	0.02
R4969:Lpo	UTSW	11	87806925	missense	probably benign	0.09
R5368:Lpo	UTSW	11	87821069	missense	possibly damaging	0.61
R5536:Lpo	UTSW	11	87816563	missense	probably damaging	1.00
R6246:Lpo	UTSW	11	87822232	missense	unknown
R6556:Lpo	UTSW	11	87817763	nonsense	probably null
R6817:Lpo	UTSW	11	87809241	missense	probably benign
R7024:Lpo	UTSW	11	87816443	missense	probably damaging	1.00
R7203:Lpo	UTSW	11	87809251	missense	possibly damaging	0.75
R7206:Lpo	UTSW	11	87807423	missense	probably damaging	1.00
R8355:Lpo	UTSW	11	87814288	missense	probably damaging	1.00
R8455:Lpo	UTSW	11	87814288	missense	probably damaging	1.00
R8693:Lpo	UTSW	11	87809240	missense	probably benign	0.04
R8848:Lpo	UTSW	11	87817777	missense	probably benign	0.00
R8891:Lpo	UTSW	11	87807022	missense	probably benign	0.08
R8989:Lpo	UTSW	11	87817834	missense	probably benign	0.00
RF010:Lpo	UTSW	11	87821102	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATCCAAAGCTATCAAGAGATCCTG -3'
(R):5'- CTCAGCAATCCGGTGTTGAC -3'

Sequencing Primer
(F):5'- AGATCCTGATCTTCCGGCTGG -3'
(R):5'- GCAATCCGGTGTTGACTTTTAATTC -3'

Posted On

2014-12-04