Mutagenetix > Incidental Mutation

Incidental Mutation 'R7206:Lpo'

560642

Institutional Source

Beutler Lab

Gene Symbol

Lpo

Ensembl Gene

ENSMUSG00000009356

Gene Name

lactoperoxidase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87806428-87828289 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87807423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 582 (L582R)

Ref Sequence

ENSEMBL: ENSMUSP00000099466 (fasta)

Gene Model

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

AlphaFold

Q5SW46

Predicted Effect

probably benign
Transcript: ENSMUST00000020779

SMART Domains

Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350

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 damaging
Transcript: ENSMUST00000103177
AA Change: L582R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099466
Gene: ENSMUSG00000009356
AA Change: L582R

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: ENSMUST00000121303

SMART Domains

Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350

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: ENSMUST00000146650

SMART Domains

Protein: ENSMUSP00000128484
Gene: ENSMUSG00000009350

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (87/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	G	A	3: 60,025,241	M392I	probably benign	Het
Acr	T	C	15: 89,574,171	S352P	probably benign	Het
Adam6a	T	C	12: 113,546,034	C676R	probably damaging	Het
Adgra3	T	C	5: 50,006,896	D247G	probably damaging	Het
Agxt2	A	T	15: 10,377,456	E147D	probably damaging	Het
Atp2a1	T	C	7: 126,447,972	T805A	probably benign	Het
Atp8b4	T	C	2: 126,458,292	S106G	probably damaging	Het
Ccdc170	T	A	10: 4,514,120	M87K	possibly damaging	Het
Ccnl2	T	G	4: 155,820,974	V287G	possibly damaging	Het
Ccr6	A	T	17: 8,256,949	M329L	probably benign	Het
Cflar	G	T	1: 58,740,991	M248I		Het
Cib4	A	T	5: 30,545,766	L5*	probably null	Het
Col27a1	A	T	4: 63,235,346	Y645F	probably benign	Het
Cxcr2	A	G	1: 74,159,054	T236A	possibly damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dnah7a	A	T	1: 53,698,633	L47*	probably null	Het
Dnajb6	A	C	5: 29,781,337	K301T	possibly damaging	Het
Dpf2	T	A	19: 5,904,543	I157F	possibly damaging	Het
Drd4	G	A	7: 141,292,119	G28R	probably damaging	Het
Dupd1	A	G	14: 21,677,034	V182A	probably damaging	Het
Dus3l	A	T	17: 56,767,807	I310F	probably damaging	Het
Eef1akmt3	A	G	10: 127,040,993	L95P	probably damaging	Het
Fabp7	C	T	10: 57,784,991		probably benign	Het
Fam135a	T	C	1: 24,030,273	N505S	probably benign	Het
Fam213a	T	A	14: 41,004,185	M12L	probably benign	Het
Fam216b	C	A	14: 78,085,127	D46Y	probably damaging	Het
Gata6	C	T	18: 11,054,850	R260C	probably damaging	Het
Gm10800	A	AC	2: 98,667,033		probably null	Het
Gm13124	T	A	4: 144,558,641	D142V	probably damaging	Het
Golgb1	A	G	16: 36,913,749	I1160M	probably benign	Het
Hfe2	A	T	3: 96,528,128	D234V	probably damaging	Het
Kiss1	A	G	1: 133,327,325	K26E	probably benign	Het
Knl1	T	A	2: 119,069,299	F494I	probably benign	Het
Ktn1	T	C	14: 47,695,528	L713S	probably damaging	Het
Loxhd1	A	G	18: 77,441,817	D2052G	probably damaging	Het
Map2k3	A	G	11: 60,943,580	T125A		Het
Matn3	T	A	12: 8,961,170	N360K	probably benign	Het
Mlip	A	T	9: 77,164,862	V237E	probably damaging	Het
Mms22l	T	C	4: 24,591,146	V999A	probably benign	Het
Mn1	A	G	5: 111,420,512	K783E	possibly damaging	Het
Myo1h	A	T	5: 114,319,775	K132*	probably null	Het
Nle1	A	G	11: 82,904,931	V230A	probably benign	Het
Olfr1240	T	C	2: 89,440,457		probably benign	Het
Olfr1318	T	G	2: 112,156,459	C169W	probably damaging	Het
Olfr22-ps1	A	T	11: 73,954,821	I44F	probably benign	Het
Olfr356	T	A	2: 36,937,772	Y218N	probably damaging	Het
Olfr564	T	C	7: 102,803,684	S69P	probably damaging	Het
Olfr860	C	T	9: 19,846,560	D20N	probably damaging	Het
Ormdl2	T	A	10: 128,820,415	H7L	possibly damaging	Het
Pam	A	G	1: 97,896,032	S225P	probably damaging	Het
Pan2	C	A	10: 128,314,545	Y719*	probably null	Het
Ppfia4	T	C	1: 134,327,389	S243G	probably benign	Het
Ppig	T	G	2: 69,741,566	S210A	unknown	Het
Ppwd1	A	T	13: 104,213,598	N426K	probably damaging	Het
Rnf10	T	G	5: 115,244,121	D675A	probably benign	Het
Rrp12	A	T	19: 41,878,039	L619H	probably damaging	Het
Rsph10b	C	T	5: 143,961,192	T497I	possibly damaging	Het
Scnm1	A	T	3: 95,133,894	M1K	probably null	Het
Scp2	G	T	4: 108,074,441	D332E	probably benign	Het
Senp3	T	C	11: 69,678,731	I314V	probably benign	Het
Sfmbt1	T	A	14: 30,811,373		probably null	Het
Slc44a2	T	C	9: 21,346,807	F451S	probably damaging	Het
Slfn1	A	T	11: 83,122,011	M318L	probably benign	Het
Syne2	C	T	12: 76,004,757	S4087L	probably benign	Het
Syt7	A	G	19: 10,417,973	Y49C	probably damaging	Het
Tas2r134	T	C	2: 51,628,108	Y200H	probably benign	Het
Tgfbr1	A	T	4: 47,402,941	H315L	probably damaging	Het
Tmem184c	A	G	8: 77,596,577	V552A	possibly damaging	Het
Tnxb	A	G	17: 34,704,101	R2553G	possibly damaging	Het
Tomm40	C	G	7: 19,710,936	R173S	probably benign	Het
Tonsl	T	C	15: 76,633,651	D650G	probably damaging	Het
Tpo	G	C	12: 30,103,134	S407W	possibly damaging	Het
Trank1	T	C	9: 111,345,515		probably null	Het
Trp53tg5	T	C	2: 164,471,458	E99G	probably damaging	Het
Tubb2a	C	A	13: 34,075,522	S95I	possibly damaging	Het
Vav2	C	A	2: 27,336,719	R114L	probably benign	Het
Vmn1r172	A	T	7: 23,660,157	I156L	possibly damaging	Het
Vmn1r238	A	G	18: 3,122,623	Y264H	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,768	M397K	probably benign	Het
Vmn2r73	T	C	7: 85,872,867	N88S	probably benign	Het
Vps13a	T	C	19: 16,754,298	N150S	probably damaging	Het
Vps35	A	T	8: 85,287,721	Y100N	probably damaging	Het
Vps8	A	C	16: 21,457,421	I235L	probably damaging	Het
Yipf2	T	A	9: 21,590,361	H157L	probably damaging	Het
Zfp354a	A	T	11: 51,070,246	H426L	probably damaging	Het
Zfp503	G	T	14: 21,985,485	S454R	possibly damaging	Het
Zfp619	C	T	7: 39,535,400	R285C	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
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
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'- GTTCCTCTTGCCACCATAATGG -3'
(R):5'- GCAGCGCATTATACTTTCCTTG -3'

Sequencing Primer
(F):5'- CCATAATGGTTTCACTTGCCTG -3'
(R):5'- TTGTCTTAAAACTCCCAGACTTAACC -3'

Posted On

2019-06-26