Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Lcn2'

346123

Institutional Source

Beutler Lab

Gene Symbol

Lcn2

Ensembl Gene

ENSMUSG00000026822

Gene Name

lipocalin 2

Synonyms

24p3, neu-related lipocalin, NGAL, NRL

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32274649-32277751 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 32274655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048792] [ENSMUST00000050785] [ENSMUST00000125818] [ENSMUST00000146423] [ENSMUST00000192241]

AlphaFold

P11672

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

SMART Domains

Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125818

SMART Domains

Protein: ENSMUSP00000117937
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
Blast:ZnF_U1	4	31	3e-6	BLAST
ZnF_U1	33	67	2.08e-1	SMART
ZnF_C2H2	36	60	3.02e0	SMART
low complexity region	96	116	N/A	INTRINSIC
ZnF_U1	151	186	1.43e-4	SMART
ZnF_C2H2	154	179	9.56e1	SMART

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: ENSMUST00000192758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155830

Predicted Effect

probably benign
Transcript: ENSMUST00000192241

SMART Domains

Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (90/90)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,975,235 (GRCm39)	Y142H	probably damaging	Het
Abra	C	T	15: 41,732,620 (GRCm39)	D149N	probably benign	Het
Acin1	A	T	14: 54,890,900 (GRCm39)		probably benign	Het
Adap2	T	A	11: 80,064,899 (GRCm39)		probably null	Het
Afdn	A	G	17: 14,109,082 (GRCm39)	E1535G	probably damaging	Het
Ajm1	G	A	2: 25,468,412 (GRCm39)	P500S	probably damaging	Het
Ak9	A	G	10: 41,282,887 (GRCm39)	N1218D	possibly damaging	Het
Angptl1	G	A	1: 156,672,494 (GRCm39)	V107M	probably damaging	Het
Arhgap26	G	A	18: 39,032,894 (GRCm39)		probably benign	Het
Cage1	A	C	13: 38,209,477 (GRCm39)	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,824,004 (GRCm39)	T163A	probably benign	Het
Celsr2	A	T	3: 108,302,532 (GRCm39)	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,995,951 (GRCm39)	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,076,182 (GRCm39)	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,415,258 (GRCm39)	T295A	probably benign	Het
Dus2	T	A	8: 106,757,074 (GRCm39)	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,070 (GRCm39)		probably benign	Het
Ecrg4	G	A	1: 43,776,412 (GRCm39)		probably null	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Epb41l2	T	C	10: 25,378,038 (GRCm39)		probably null	Het
Espn	A	G	4: 152,215,709 (GRCm39)	S408P	probably damaging	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
F830016B08Rik	G	A	18: 60,433,939 (GRCm39)	V341I	probably benign	Het
Flii	A	G	11: 60,606,937 (GRCm39)	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,779,264 (GRCm39)	V103M	probably damaging	Het
Frem3	T	A	8: 81,395,820 (GRCm39)		probably null	Het
Gltp	C	T	5: 114,812,188 (GRCm39)	R106Q	probably damaging	Het
Gtf3c3	A	G	1: 54,458,575 (GRCm39)	Y449H	probably damaging	Het
H1f9	G	A	11: 94,858,986 (GRCm39)	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,653,866 (GRCm39)	V51A	probably damaging	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,916,783 (GRCm39)	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,723,140 (GRCm39)	N55D	possibly damaging	Het
Kctd19	T	G	8: 106,123,103 (GRCm39)	N104H	probably damaging	Het
Kif27	T	G	13: 58,478,827 (GRCm39)	D572A	probably benign	Het
Larp1b	G	A	3: 40,918,424 (GRCm39)	G22R	possibly damaging	Het
Lmtk2	T	A	5: 144,111,752 (GRCm39)	I824N	probably benign	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,025,845 (GRCm39)	T135A	probably benign	Het
Neb	G	A	2: 52,161,051 (GRCm39)	Q2207*	probably null	Het
Nek3	T	C	8: 22,647,055 (GRCm39)	Y160C	probably damaging	Het
Or2y6	G	C	11: 52,104,706 (GRCm39)	L37V	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,105,279 (GRCm39)	I245V	probably benign	Het
Pcdh9	T	C	14: 94,125,079 (GRCm39)	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,570,213 (GRCm39)	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,428,980 (GRCm39)	T318A	probably benign	Het
Prlr	T	A	15: 10,319,462 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,001,453 (GRCm39)	A1181V	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rap1gap2	A	G	11: 74,326,525 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,631,345 (GRCm39)	V244A	probably damaging	Het
Rexo5	T	G	7: 119,418,722 (GRCm39)	I254R	probably benign	Het
Robo2	A	T	16: 73,782,821 (GRCm39)	S316T	probably benign	Het
Satb2	A	T	1: 56,884,778 (GRCm39)	V382E	probably damaging	Het
Scg2	C	T	1: 79,414,381 (GRCm39)	R114Q	probably benign	Het
Scube2	T	C	7: 109,399,857 (GRCm39)	D893G	possibly damaging	Het
Snrpn	T	C	7: 59,637,274 (GRCm39)	D14G	possibly damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Spata9	T	G	13: 76,116,001 (GRCm39)	F17V	possibly damaging	Het
Supt6	A	G	11: 78,103,572 (GRCm39)	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,358,652 (GRCm39)	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,227,905 (GRCm39)	S81P	probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,520,308 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,039,263 (GRCm39)	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,676,704 (GRCm39)	Q145L	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
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'- TGGAATGCTACCGGTGTGAG -3'
(R):5'- CCAATGCATTGACAACTGAATGG -3'

Sequencing Primer
(F):5'- GTACACTGTAGCTGACTTCAGAC -3'
(R):5'- AATGGTTCAGGCGCTGC -3'

Posted On

2015-09-25