Mutagenetix > Incidental Mutation

Incidental Mutation 'R4093:Lcn2'

317705

Institutional Source

Beutler Lab

Gene Symbol

Lcn2

Ensembl Gene

ENSMUSG00000026822

Gene Name

lipocalin 2

Synonyms

24p3, neu-related lipocalin, NGAL, NRL

MMRRC Submission

041627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32274649-32277751 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 32277728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000053962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050785] [ENSMUST00000192241]

AlphaFold

P11672

PDB Structure

Crystal Structure of Murine Siderocalin (Lipocalin 2, 24p3) [X-RAY DIFFRACTION]
Crystal Structure of Murine Siderocalin in Complex with an Fab Fragment [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000050785
AA Change: M1K

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

SMART Domains

Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	48	195	2.2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155830

Predicted Effect

probably damaging
Transcript: ENSMUST00000192241
AA Change: M87K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822
AA Change: M87K

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
Pfam:Lipocalin	134	271	5.3e-22	PFAM

Meta Mutation Damage Score

0.9653

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (69/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the lipocalin family. Members of this family transport small hydrophobic molecules such as lipids, steroid hormones and retinoids. The protein encoded by this gene is a neutrophil gelatinase-associated lipocalin and plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores. The presence of this protein in blood and urine is an early biomarker of acute kidney injury. This protein is thought to be be involved in multiple cellular processes, including maintenance of skin homeostasis, and suppression of invasiveness and metastasis. Mice lacking this gene are more susceptible to bacterial infection than wild type mice. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutants are more susceptible to infection with bacteria that utilize enterochelin-type siderophores to acquire iron and impaired thermogenesis. Mice homozygous for another knock-out allele exhibit apoptotic defects in hematopoietic cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,093,996 (GRCm39)	M2173V	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Angpt1	T	C	15: 42,386,941 (GRCm39)	T138A	probably damaging	Het
Atp2c2	G	A	8: 120,476,610 (GRCm39)		probably null	Het
Cadm2	A	G	16: 66,581,675 (GRCm39)	V210A	possibly damaging	Het
Cfap70	A	T	14: 20,459,181 (GRCm39)	D671E	probably damaging	Het
Chd2	C	T	7: 73,150,764 (GRCm39)	E322K	possibly damaging	Het
Chrnd	C	T	1: 87,118,729 (GRCm39)	Q29*	probably null	Het
Cip2a	T	C	16: 48,821,339 (GRCm39)		probably benign	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
D030068K23Rik	A	G	8: 109,978,091 (GRCm39)		noncoding transcript	Het
Gsdma2	T	A	11: 98,541,677 (GRCm39)	S135T	probably benign	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hoxb3	C	A	11: 96,236,926 (GRCm39)	H335N	probably damaging	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Ighv1-19	G	A	12: 114,672,350 (GRCm39)	T90I	probably damaging	Het
Kansl3	C	A	1: 36,384,035 (GRCm39)	S729I	probably damaging	Het
Kcnab1	T	C	3: 65,207,035 (GRCm39)	I137T	possibly damaging	Het
Kcnt1	A	T	2: 25,767,927 (GRCm39)	E12V	probably damaging	Het
Klk15	A	T	7: 43,588,204 (GRCm39)	S171C	possibly damaging	Het
Lrig1	T	C	6: 94,590,559 (GRCm39)	D487G	probably benign	Het
Lrp8	T	A	4: 107,700,468 (GRCm39)	C135*	probably null	Het
Lrrc31	C	A	3: 30,749,671 (GRCm39)	S54I	probably damaging	Het
Ltbp4	A	G	7: 27,024,641 (GRCm39)	V663A	possibly damaging	Het
Med27	G	A	2: 29,267,920 (GRCm39)		probably benign	Het
Mical1	T	C	10: 41,362,933 (GRCm39)		probably benign	Het
Myt1	A	T	2: 181,453,191 (GRCm39)	M799L	probably damaging	Het
Nlrc4	T	C	17: 74,752,953 (GRCm39)	M477V	probably benign	Het
Npy4r	T	C	14: 33,869,098 (GRCm39)	I63M	probably benign	Het
Or2t43	A	T	11: 58,457,655 (GRCm39)	I172N	probably damaging	Het
Or52e15	C	T	7: 104,645,842 (GRCm39)	G90S	probably benign	Het
Or8b1b	T	A	9: 38,375,379 (GRCm39)	L14Q	probably null	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Piezo1	A	C	8: 123,227,899 (GRCm39)		probably null	Het
Ppp1r12c	T	C	7: 4,486,366 (GRCm39)	E601G	probably damaging	Het
Proser1	T	C	3: 53,387,133 (GRCm39)		probably null	Het
Psme2	A	T	14: 55,825,734 (GRCm39)	N143K	probably benign	Het
Pygo2	C	A	3: 89,340,571 (GRCm39)	P323Q	probably damaging	Het
Rab11b	T	C	17: 33,968,763 (GRCm39)	T77A	possibly damaging	Het
Recql5	A	G	11: 115,795,714 (GRCm39)	S190P	probably benign	Het
Serpina12	A	G	12: 104,004,183 (GRCm39)	F150L	probably damaging	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc22a2	C	T	17: 12,831,281 (GRCm39)	T357M	probably damaging	Het
Spag6l	A	C	16: 16,646,888 (GRCm39)	N39K	probably benign	Het
Srl	A	G	16: 4,315,316 (GRCm39)	S109P	possibly damaging	Het
Tagap	A	T	17: 8,148,255 (GRCm39)	H152L	probably damaging	Het
Tbx3	T	A	5: 119,818,813 (GRCm39)	S463T	probably benign	Het
Tcaf2	A	G	6: 42,619,772 (GRCm39)	L85P	probably damaging	Het
Tenm4	A	T	7: 96,544,979 (GRCm39)	S2332C	probably damaging	Het
Trim60	A	T	8: 65,454,030 (GRCm39)	M73K	probably benign	Het
Trpc1	T	C	9: 95,588,918 (GRCm39)	T769A	probably benign	Het
Tubgcp4	T	A	2: 121,025,958 (GRCm39)	L601Q	probably benign	Het
Unc5d	T	C	8: 29,334,865 (GRCm39)	Y154C	possibly damaging	Het
Vmn1r185	A	T	7: 26,311,208 (GRCm39)	V99E	probably damaging	Het
Vmn1r57	G	T	7: 5,223,856 (GRCm39)	S127I	possibly damaging	Het
Vmn1r62	T	A	7: 5,678,943 (GRCm39)	M208K	probably damaging	Het
Vmn2r110	T	C	17: 20,803,642 (GRCm39)	D311G	possibly damaging	Het
Vmn2r48	C	A	7: 9,676,185 (GRCm39)	S432I	probably benign	Het
Vmn2r48	T	A	7: 9,676,186 (GRCm39)	S432C	probably damaging	Het
Vmn2r71	T	C	7: 85,270,442 (GRCm39)	V536A	probably benign	Het
Vstm2a	A	G	11: 16,209,884 (GRCm39)	T37A	probably damaging	Het
Wfs1	T	C	5: 37,124,809 (GRCm39)	H694R	probably damaging	Het
Zdbf2	T	C	1: 63,348,940 (GRCm39)	S2440P	possibly damaging	Het
Zfp61	A	G	7: 23,990,700 (GRCm39)		probably null	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het

Other mutations in Lcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00935:Lcn2	APN	2	32,277,590 (GRCm39)	critical splice donor site	probably null
IGL01327:Lcn2	APN	2	32,276,030 (GRCm39)	missense	possibly damaging	0.62
IGL01913:Lcn2	APN	2	32,277,157 (GRCm39)	missense	possibly damaging	0.46
IGL02108:Lcn2	APN	2	32,277,617 (GRCm39)	missense	probably damaging	0.99
IGL02215:Lcn2	APN	2	32,274,877 (GRCm39)	makesense	probably null
IGL02577:Lcn2	APN	2	32,277,101 (GRCm39)	missense	probably damaging	0.97
IGL03129:Lcn2	APN	2	32,277,716 (GRCm39)	missense	possibly damaging	0.70
R0302:Lcn2	UTSW	2	32,274,901 (GRCm39)	unclassified	probably benign
R1864:Lcn2	UTSW	2	32,275,434 (GRCm39)	missense	possibly damaging	0.77
R1865:Lcn2	UTSW	2	32,275,434 (GRCm39)	missense	possibly damaging	0.77
R4621:Lcn2	UTSW	2	32,274,655 (GRCm39)	unclassified	probably benign
R5236:Lcn2	UTSW	2	32,275,973 (GRCm39)	missense	probably benign	0.06
R5716:Lcn2	UTSW	2	32,275,825 (GRCm39)	missense	possibly damaging	0.88
R6785:Lcn2	UTSW	2	32,277,039 (GRCm39)	critical splice donor site	probably null
R7059:Lcn2	UTSW	2	32,277,608 (GRCm39)	missense	possibly damaging	0.85
R7514:Lcn2	UTSW	2	32,277,861 (GRCm39)	critical splice donor site	probably null
R7596:Lcn2	UTSW	2	32,275,721 (GRCm39)	missense	probably damaging	1.00
R7694:Lcn2	UTSW	2	32,278,042 (GRCm39)	missense	unknown
R7778:Lcn2	UTSW	2	32,277,927 (GRCm39)	missense	probably benign
R8913:Lcn2	UTSW	2	32,277,158 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AGAGTCCTAGCCATCCTACC -3'
(R):5'- TGTACTGGCAATTACTTCATGGC -3'

Sequencing Primer
(F):5'- TGCCCGTGAAACCTTTGG -3'
(R):5'- CTTCCTGGACTTGGTAAAGGATGGAC -3'

Posted On

2015-05-15