Mutagenetix > Incidental Mutation

Incidental Mutation 'R5236:Lcn2'

398339

Institutional Source

Beutler Lab

Gene Symbol

Lcn2

Ensembl Gene

ENSMUSG00000026822

Gene Name

lipocalin 2

Synonyms

24p3, neu-related lipocalin, NGAL, NRL

MMRRC Submission

044393-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5236 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32274649-32277751 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32275973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 119 (M119K)

Ref Sequence

ENSEMBL: ENSMUSP00000053962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048792] [ENSMUST00000050785] [ENSMUST00000146423] [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 benign
Transcript: ENSMUST00000048792

SMART Domains

Protein: ENSMUSP00000038970
Gene: ENSMUSG00000039195

Domain	Start	End	E-Value	Type
Pfam:UPF0184	1	83	5.5e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050785
AA Change: M119K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822
AA Change: M119K

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

probably benign
Transcript: ENSMUST00000146423

SMART Domains

Protein: ENSMUSP00000142021
Gene: ENSMUSG00000039195

Domain	Start	End	E-Value	Type
Pfam:UPF0184	1	43	1.4e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155830

Predicted Effect

probably benign
Transcript: ENSMUST00000192241
AA Change: M205K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822
AA Change: M205K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192758

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	A	9: 101,820,120 (GRCm39)	I180N	possibly damaging	Het
Actl9	T	C	17: 33,653,073 (GRCm39)	S378P	probably damaging	Het
Agrn	A	T	4: 156,263,315 (GRCm39)	C263S	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Arid4b	A	G	13: 14,301,034 (GRCm39)		probably null	Het
Bin2	T	C	15: 100,560,415 (GRCm39)	N49D	probably damaging	Het
Ccdc39	T	C	3: 33,884,251 (GRCm39)	T364A	probably damaging	Het
Cdcp1	A	T	9: 123,014,258 (GRCm39)	V172D	probably damaging	Het
Cdh23	A	G	10: 60,148,351 (GRCm39)	L2670P	probably damaging	Het
Cmtm4	G	C	8: 105,084,378 (GRCm39)	F105L	probably damaging	Het
Cspg4b	A	G	13: 113,502,754 (GRCm39)	Y153C	probably benign	Het
Ctsa	G	A	2: 164,680,831 (GRCm39)	V453M	probably damaging	Het
Cyp3a59	A	G	5: 146,039,635 (GRCm39)	I303V	probably benign	Het
Cyp4f17	T	C	17: 32,739,606 (GRCm39)		probably null	Het
Dst	C	T	1: 34,203,498 (GRCm39)	R447C	probably damaging	Het
E2f7	C	T	10: 110,603,070 (GRCm39)	P362S	probably damaging	Het
Fbxw9	A	G	8: 85,792,974 (GRCm39)	T407A	probably damaging	Het
Fyb2	T	C	4: 104,805,957 (GRCm39)	S346P	probably benign	Het
Git2	T	A	5: 114,905,233 (GRCm39)	I75L	probably damaging	Het
H2-DMa	T	A	17: 34,356,913 (GRCm39)	L137Q	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hrg	T	C	16: 22,780,263 (GRCm39)		probably benign	Het
Htr7	A	T	19: 36,034,169 (GRCm39)	I162N	probably damaging	Het
Itpripl1	A	T	2: 126,983,770 (GRCm39)	F117L	probably damaging	Het
Kri1	T	C	9: 21,187,237 (GRCm39)	Y392C	probably damaging	Het
Krt27	A	C	11: 99,241,641 (GRCm39)	S87A	possibly damaging	Het
Lama1	T	C	17: 68,111,487 (GRCm39)	V2246A	probably benign	Het
Lrp2	T	C	2: 69,287,163 (GRCm39)		probably null	Het
Lrp6	T	C	6: 134,488,227 (GRCm39)	N290D	probably damaging	Het
Macf1	T	C	4: 123,291,614 (GRCm39)	E2517G	probably damaging	Het
Melk	G	A	4: 44,344,959 (GRCm39)	C363Y	probably benign	Het
Mettl22	T	A	16: 8,306,597 (GRCm39)	L351*	probably null	Het
Mms22l	A	G	4: 24,588,347 (GRCm39)	Q953R	probably benign	Het
Ndufaf7	T	C	17: 79,247,060 (GRCm39)	S107P	probably benign	Het
Opa3	A	G	7: 18,978,682 (GRCm39)	Y49C	probably damaging	Het
Or2a12	A	C	6: 42,904,715 (GRCm39)	R183S	probably benign	Het
Or9a2	C	A	6: 41,749,045 (GRCm39)	G63C	probably benign	Het
Pabpn1	T	A	14: 55,132,399 (GRCm39)	M145K	possibly damaging	Het
Plce1	A	C	19: 38,758,791 (GRCm39)	M1982L	probably benign	Het
Ppcdc	A	C	9: 57,321,937 (GRCm39)	I201S	probably benign	Het
Rag2	A	T	2: 101,460,005 (GRCm39)	D105V	probably damaging	Het
Rnf130	C	T	11: 49,986,805 (GRCm39)	T383I	probably damaging	Het
Sgip1	T	G	4: 102,784,784 (GRCm39)		probably null	Het
Slc23a2	T	A	2: 131,917,504 (GRCm39)	I245F	probably damaging	Het
Slc4a9	A	G	18: 36,663,900 (GRCm39)	Y308C	probably benign	Het
Slc7a15	C	T	12: 8,589,005 (GRCm39)	V181M	probably benign	Het
Sprr2b	G	A	3: 92,224,943 (GRCm39)	C63Y	unknown	Het
Stpg2	A	T	3: 138,937,984 (GRCm39)	Y181F	probably damaging	Het
Sult2a5	A	T	7: 13,398,974 (GRCm39)	T194S	probably benign	Het
Tbx15	A	T	3: 99,259,362 (GRCm39)	Q411L	possibly damaging	Het
Tln2	T	A	9: 67,273,205 (GRCm39)	E427V	probably damaging	Het
Trpv4	A	C	5: 114,760,856 (GRCm39)	V825G	possibly damaging	Het
Trrap	A	G	5: 144,754,596 (GRCm39)	I1968V	probably benign	Het
Ttn	G	A	2: 76,619,146 (GRCm39)	L16078F	probably damaging	Het
Unc45b	T	A	11: 82,805,888 (GRCm39)	F132I	possibly damaging	Het
Unc79	T	A	12: 103,060,654 (GRCm39)		probably null	Het
Vmn2r71	A	T	7: 85,272,877 (GRCm39)	N564Y	probably damaging	Het
Zfp638	G	T	6: 83,953,557 (GRCm39)	E1221*	probably null	Het
Zfp934	A	T	13: 62,665,527 (GRCm39)	H371Q	probably damaging	Het
Zranb3	A	G	1: 127,968,726 (GRCm39)	L63P	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
R4093:Lcn2	UTSW	2	32,277,728 (GRCm39)	start codon destroyed	probably null	1.00
R4621:Lcn2	UTSW	2	32,274,655 (GRCm39)	unclassified	probably benign
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'- TGGCGAACTGGTTGTAGTCC -3'
(R):5'- CAGGCTATTATGGGTTGGAGGAAC -3'

Sequencing Primer
(F):5'- TGTAGTCCGTGGTGGCC -3'
(R):5'- ACAGGGGTGGGCGACATC -3'

Posted On

2016-07-06