Mutagenetix > Incidental Mutation

Incidental Mutation 'R7596:Lcn2'

587702

Institutional Source

Beutler Lab

Gene Symbol

Lcn2

Ensembl Gene

ENSMUSG00000026822

Gene Name

lipocalin 2

Synonyms

24p3, neu-related lipocalin, NGAL, NRL

MMRRC Submission

045671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7596 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32274649-32277751 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32275721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 160 (Y160H)

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 damaging
Transcript: ENSMUST00000050785
AA Change: Y160H

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

SMART Domains

Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822
AA Change: Y160H

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

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

probably damaging
Transcript: ENSMUST00000192241
AA Change: Y246H

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

SMART Domains

Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822
AA Change: Y246H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (53/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	A	16: 88,556,224 (GRCm39)	S146N	probably damaging	Het
Adam26b	A	C	8: 43,973,237 (GRCm39)	D588E	probably benign	Het
Ankrd13b	C	A	11: 77,363,140 (GRCm39)	R547L	probably benign	Het
Bckdk	G	T	7: 127,505,572 (GRCm39)	E232*	probably null	Het
C8a	T	C	4: 104,711,064 (GRCm39)	K244E	possibly damaging	Het
Cad	A	G	5: 31,226,392 (GRCm39)	I1145V	probably benign	Het
Cd28	C	A	1: 60,802,487 (GRCm39)	H135Q	possibly damaging	Het
Ceacam19	A	G	7: 19,615,812 (GRCm39)	I209T	possibly damaging	Het
Cecr2	A	G	6: 120,739,167 (GRCm39)	N1298S	probably benign	Het
Cpne5	C	T	17: 29,445,191 (GRCm39)	D38N	possibly damaging	Het
Dcn	A	T	10: 97,345,871 (GRCm39)	I228F	probably damaging	Het
Gm5591	T	G	7: 38,219,608 (GRCm39)	I422L	probably benign	Het
Gnptab	T	G	10: 88,279,232 (GRCm39)	F1201V	probably damaging	Het
Hc	A	G	2: 34,890,859 (GRCm39)	V1319A	probably damaging	Het
Htr3b	T	C	9: 48,847,361 (GRCm39)	N385D	probably benign	Het
Ikbip	A	T	10: 90,918,891 (GRCm39)		probably benign	Het
Kcnk1	T	C	8: 126,722,350 (GRCm39)	L51P	probably damaging	Het
Lig1	T	C	7: 13,039,923 (GRCm39)	S712P	probably damaging	Het
Lrrc19	T	G	4: 94,531,592 (GRCm39)	M7L	probably benign	Het
Lrrc4b	C	T	7: 44,111,310 (GRCm39)	T394M	probably damaging	Het
Map7	A	G	10: 20,153,927 (GRCm39)	N681S	unknown	Het
Mdga2	A	T	12: 66,552,897 (GRCm39)	M912K	probably damaging	Het
Mlst8	C	T	17: 24,697,084 (GRCm39)		probably null	Het
Ms4a13	A	T	19: 11,147,329 (GRCm39)	V195D	unknown	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Nr4a2	G	C	2: 56,998,243 (GRCm39)	F574L	probably damaging	Het
Nup107	T	C	10: 117,613,065 (GRCm39)	N288D	probably damaging	Het
Or11g26	A	T	14: 50,753,002 (GRCm39)	T114S	probably benign	Het
Or13a1	T	A	6: 116,471,158 (GRCm39)	V196D	probably benign	Het
Or5b3	C	T	19: 13,388,511 (GRCm39)	H193Y	probably benign	Het
Pcolce	A	G	5: 137,605,087 (GRCm39)		probably null	Het
Pik3cg	A	G	12: 32,254,740 (GRCm39)	F416L	probably damaging	Het
Podnl1	A	G	8: 84,853,024 (GRCm39)	I65V		Het
Prpf8	T	C	11: 75,382,330 (GRCm39)	F387S	probably benign	Het
Rev3l	A	G	10: 39,697,534 (GRCm39)	Y677C	probably damaging	Het
Rhpn1	A	G	15: 75,584,162 (GRCm39)	T430A	probably benign	Het
Rnf187	T	C	11: 58,829,241 (GRCm39)	R124G	possibly damaging	Het
Rpl9-ps6	C	T	19: 32,443,783 (GRCm39)	V57I	probably benign	Het
Samhd1	A	T	2: 156,943,754 (GRCm39)	F587I	probably damaging	Het
Slc30a6	A	G	17: 74,722,664 (GRCm39)	T244A	probably benign	Het
Slc35f4	T	A	14: 49,543,666 (GRCm39)	Y310F	probably damaging	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Smc5	A	C	19: 23,191,533 (GRCm39)	V889G	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spopfm2	T	A	3: 94,083,737 (GRCm39)	T25S	probably benign	Het
Tango2	A	G	16: 18,120,574 (GRCm39)	V229A	probably damaging	Het
Tnks1bp1	A	G	2: 84,893,057 (GRCm39)	T995A	probably benign	Het
Trio	A	T	15: 27,749,912 (GRCm39)	I2263N	probably damaging	Het
Ttc28	T	C	5: 111,427,990 (GRCm39)	F1829L	probably damaging	Het
Ttn	A	G	2: 76,638,923 (GRCm39)	S13920P	probably damaging	Het
Ube2b	T	C	11: 51,877,570 (GRCm39)	N133S	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Ubtf	G	A	11: 102,197,533 (GRCm39)	T705M	unknown	Het
Vmn2r109	A	T	17: 20,760,942 (GRCm39)	M805K	probably damaging	Het
Vsig10	T	C	5: 117,472,848 (GRCm39)	V147A	possibly damaging	Het
Zbtb16	C	A	9: 48,743,704 (GRCm39)	V203L	possibly 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
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
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'- ACGTTCCTTCAGTTCAGGGG -3'
(R):5'- GGGGAGAACTCTTAGTTTGGAC -3'

Sequencing Primer
(F):5'- TTCCTTCAGTTCAGGGGACAGC -3'
(R):5'- TCTTAGTTTGGACAGACAGAACCC -3'

Posted On

2019-10-24