Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:Lpo'

191314

Institutional Source

Beutler Lab

Gene Symbol

Lpo

Ensembl Gene

ENSMUSG00000009356

Gene Name

lactoperoxidase

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1719 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87806428-87828289 bp(-) (GRCm38)

Type of Mutation

splice site (4779 bp from exon)

DNA Base Change (assembly)

T to A at 87809192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112837 (fasta)

Gene Model

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

AlphaFold

Q5SW46

Predicted Effect

probably null
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 benign
Transcript: ENSMUST00000103177
AA Change: H541L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099466
Gene: ENSMUSG00000009356
AA Change: H541L

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 null
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

noncoding transcript
Transcript: ENSMUST00000167903

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,248,206 (GRCm38)	M459K	probably damaging	Het
A1cf	A	T	19: 31,927,126 (GRCm38)	K263M	probably damaging	Het
Adam26a	G	A	8: 43,570,036 (GRCm38)	T139M	possibly damaging	Het
Agrp	G	T	8: 105,566,835 (GRCm38)	T106K	probably damaging	Het
Akap9	C	T	5: 3,957,645 (GRCm38)	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774 (GRCm38)	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,324,604 (GRCm38)	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,808,713 (GRCm38)		probably null	Het
Cblc	A	T	7: 19,790,474 (GRCm38)	D280E	probably benign	Het
Cdk11b	T	C	4: 155,648,397 (GRCm38)		probably benign	Het
Cela2a	G	T	4: 141,817,946 (GRCm38)	F239L	probably damaging	Het
Cfap57	A	T	4: 118,606,631 (GRCm38)	C342S	probably benign	Het
Clca4a	C	A	3: 144,963,755 (GRCm38)	W345L	probably damaging	Het
Col6a5	T	C	9: 105,931,293 (GRCm38)	D852G	unknown	Het
Cyp4a32	T	C	4: 115,611,308 (GRCm38)	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,175,495 (GRCm38)	P287S	probably damaging	Het
Dmxl1	T	A	18: 49,934,637 (GRCm38)	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,200,747 (GRCm38)	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,643,936 (GRCm38)	Y56*	probably null	Het
Duox1	T	C	2: 122,338,644 (GRCm38)	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 184,037,225 (GRCm38)	S129R	probably benign	Het
Epcam	G	A	17: 87,642,128 (GRCm38)	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,220,650 (GRCm38)	E384G	probably damaging	Het
Exosc10	A	T	4: 148,568,503 (GRCm38)	D525V	probably damaging	Het
Fam186a	T	A	15: 99,942,346 (GRCm38)	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 109,148,174 (GRCm38)	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,457,397 (GRCm38)	E568G	probably damaging	Het
Fmn2	C	T	1: 174,608,458 (GRCm38)		probably benign	Het
Fut9	A	G	4: 25,619,744 (GRCm38)	F357L	possibly damaging	Het
Gas2l1	G	A	11: 5,064,266 (GRCm38)	H65Y	probably damaging	Het
Gjd2	A	T	2: 114,013,133 (GRCm38)	M1K	probably null	Het
Gm12169	T	C	11: 46,526,294 (GRCm38)	L13P	probably damaging	Het
Gm884	T	A	11: 103,617,071 (GRCm38)		probably benign	Het
Hdgfl3	T	C	7: 81,899,684 (GRCm38)	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,354,721 (GRCm38)	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,398,799 (GRCm38)	S223C	probably damaging	Het
Ip6k1	G	A	9: 108,040,996 (GRCm38)	E77K	possibly damaging	Het
Knl1	T	A	2: 119,071,738 (GRCm38)	W1307R	probably benign	Het
Kpna3	A	G	14: 61,387,477 (GRCm38)	L139P	probably damaging	Het
Lama3	T	C	18: 12,479,872 (GRCm38)		probably null	Het
Lin54	G	A	5: 100,485,249 (GRCm38)	P192L	possibly damaging	Het
Lrrd1	T	G	5: 3,850,483 (GRCm38)		probably null	Het
Nbas	T	A	12: 13,560,977 (GRCm38)		probably null	Het
Nemp1	G	A	10: 127,696,248 (GRCm38)	G341D	probably damaging	Het
Nrp1	T	C	8: 128,425,885 (GRCm38)	F192L	probably damaging	Het
Nufip2	T	A	11: 77,693,090 (GRCm38)	V610E	probably damaging	Het
Nup160	T	G	2: 90,700,436 (GRCm38)	Y479*	probably null	Het
Oas1d	A	T	5: 120,919,962 (GRCm38)	D323V	possibly damaging	Het
Olfr125	A	G	17: 37,835,353 (GRCm38)	D118G	possibly damaging	Het
Olfr1338	A	G	4: 118,753,600 (GRCm38)	W315R	possibly damaging	Het
Olfr140	T	C	2: 90,051,784 (GRCm38)	Y180C	probably damaging	Het
Olfr147	G	A	9: 38,403,254 (GRCm38)	V127M	possibly damaging	Het
Olfr204	T	A	16: 59,314,706 (GRCm38)	R234*	probably null	Het
Olfr25	A	T	9: 38,330,507 (GRCm38)	T307S	probably benign	Het
Olfr677	C	A	7: 105,056,794 (GRCm38)	H183N	probably damaging	Het
Pcm1	T	A	8: 41,313,359 (GRCm38)	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,443,896 (GRCm38)	V215A	probably benign	Het
Phf12	T	A	11: 78,023,601 (GRCm38)	L74Q	probably damaging	Het
Plcg1	A	G	2: 160,753,743 (GRCm38)	E537G	probably null	Het
Plxna2	C	T	1: 194,644,370 (GRCm38)	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,524,063 (GRCm38)	M236L	probably benign	Het
Qrsl1	A	T	10: 43,896,030 (GRCm38)	S55T	probably damaging	Het
Rbm5	T	C	9: 107,743,913 (GRCm38)		probably null	Het
Sipa1l2	A	G	8: 125,444,535 (GRCm38)	S1403P	probably damaging	Het
Sis	C	T	3: 72,965,604 (GRCm38)	C67Y	probably damaging	Het
Specc1	A	G	11: 62,128,392 (GRCm38)	I686V	possibly damaging	Het
Speg	G	A	1: 75,417,863 (GRCm38)	E1739K	probably benign	Het
Sprtn	C	A	8: 124,901,633 (GRCm38)	H154Q	probably damaging	Het
St7l	A	G	3: 104,870,987 (GRCm38)	T147A	probably benign	Het
Stab1	G	A	14: 31,146,028 (GRCm38)	Q1630*	probably null	Het
Stpg2	A	G	3: 139,232,199 (GRCm38)	D173G	probably benign	Het
Tcf20	G	A	15: 82,852,777 (GRCm38)	T1491I	probably benign	Het
Themis2	A	T	4: 132,789,649 (GRCm38)	I180N	possibly damaging	Het
Tktl2	G	A	8: 66,512,347 (GRCm38)	V186M	probably damaging	Het
Ttn	A	G	2: 76,807,996 (GRCm38)	V13980A	probably damaging	Het
Ttn	C	T	2: 76,745,634 (GRCm38)	V24972M	probably damaging	Het
Usp5	A	T	6: 124,823,460 (GRCm38)	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,637,843 (GRCm38)	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,621,227 (GRCm38)	C534G	probably damaging	Het
Wdr60	T	C	12: 116,255,912 (GRCm38)	I137V	probably benign	Het
Wnk2	C	T	13: 49,060,726 (GRCm38)	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,852,642 (GRCm38)	P745S	probably damaging	Het
Zfp957	C	T	14: 79,213,996 (GRCm38)	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,401,327 (GRCm38)	E220G	possibly damaging	Het

Other mutations in Lpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Lpo	APN	11	87,821,138 (GRCm38)	missense	probably benign	0.43
IGL01833:Lpo	APN	11	87,807,333 (GRCm38)	missense	possibly damaging	0.81
IGL02413:Lpo	APN	11	87,806,906 (GRCm38)	missense	possibly damaging	0.87
IGL02706:Lpo	APN	11	87,817,773 (GRCm38)	missense	probably benign	0.02
IGL02865:Lpo	APN	11	87,806,977 (GRCm38)	missense	possibly damaging	0.80
IGL02939:Lpo	APN	11	87,815,178 (GRCm38)	missense	possibly damaging	0.85
R1072:Lpo	UTSW	11	87,818,434 (GRCm38)	missense	probably damaging	1.00
R1169:Lpo	UTSW	11	87,817,317 (GRCm38)	missense	possibly damaging	0.58
R1667:Lpo	UTSW	11	87,807,241 (GRCm38)	unclassified	probably benign
R2133:Lpo	UTSW	11	87,821,130 (GRCm38)	missense	probably benign	0.17
R2871:Lpo	UTSW	11	87,816,524 (GRCm38)	missense	possibly damaging	0.51
R2871:Lpo	UTSW	11	87,816,524 (GRCm38)	missense	possibly damaging	0.51
R4382:Lpo	UTSW	11	87,822,201 (GRCm38)	missense	probably benign	0.14
R4657:Lpo	UTSW	11	87,814,347 (GRCm38)	missense	probably damaging	1.00
R4936:Lpo	UTSW	11	87,810,340 (GRCm38)	missense	probably benign	0.02
R4969:Lpo	UTSW	11	87,806,925 (GRCm38)	missense	probably benign	0.09
R5368:Lpo	UTSW	11	87,821,069 (GRCm38)	missense	possibly damaging	0.61
R5536:Lpo	UTSW	11	87,816,563 (GRCm38)	missense	probably damaging	1.00
R6246:Lpo	UTSW	11	87,822,232 (GRCm38)	missense	unknown
R6556:Lpo	UTSW	11	87,817,763 (GRCm38)	nonsense	probably null
R6817:Lpo	UTSW	11	87,809,241 (GRCm38)	missense	probably benign
R7024:Lpo	UTSW	11	87,816,443 (GRCm38)	missense	probably damaging	1.00
R7203:Lpo	UTSW	11	87,809,251 (GRCm38)	missense	possibly damaging	0.75
R7206:Lpo	UTSW	11	87,807,423 (GRCm38)	missense	probably damaging	1.00
R8355:Lpo	UTSW	11	87,814,288 (GRCm38)	missense	probably damaging	1.00
R8455:Lpo	UTSW	11	87,814,288 (GRCm38)	missense	probably damaging	1.00
R8693:Lpo	UTSW	11	87,809,240 (GRCm38)	missense	probably benign	0.04
R8848:Lpo	UTSW	11	87,817,777 (GRCm38)	missense	probably benign	0.00
R8891:Lpo	UTSW	11	87,807,022 (GRCm38)	missense	probably benign	0.08
R8989:Lpo	UTSW	11	87,817,834 (GRCm38)	missense	probably benign	0.00
RF010:Lpo	UTSW	11	87,821,102 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTCTAGGATTGATTGGCTCCCG -3'
(R):5'- CAAAGGACAGGCTACCTTGTGCTC -3'

Sequencing Primer
(F):5'- CCGGGTTCCAGAAGAGAGTG -3'
(R):5'- GAGAGAATTCAGTTTGGATGATACCC -3'

Posted On

2014-05-14