Incidental Mutation 'IGL02108:Lcn2'
ID 280039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcn2
Ensembl Gene ENSMUSG00000026822
Gene Name lipocalin 2
Synonyms 24p3, neu-related lipocalin, NGAL, NRL
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02108
Quality Score
Status
Chromosome 2
Chromosomal Location 32274649-32277751 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32277617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 124 (L124Q)
Ref Sequence ENSEMBL: ENSMUSP00000141430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050785] [ENSMUST00000192241]
AlphaFold P11672
Predicted Effect probably damaging
Transcript: ENSMUST00000050785
AA Change: L38Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822
AA Change: L38Q

DomainStartEndE-ValueType
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: L124Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822
AA Change: L124Q

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Pfam:Lipocalin 134 271 5.3e-22 PFAM
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,325,346 (GRCm39) I369M probably damaging Het
Aff1 T G 5: 103,958,975 (GRCm39) probably null Het
Arid1a G T 4: 133,407,827 (GRCm39) P2227T unknown Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Auh T C 13: 53,043,133 (GRCm39) probably benign Het
Bptf C A 11: 106,965,814 (GRCm39) V1012L probably benign Het
Cbr1 T C 16: 93,407,087 (GRCm39) F268L probably benign Het
Ccdc190 A G 1: 169,761,555 (GRCm39) D219G probably damaging Het
Ccnb1 C T 13: 100,917,665 (GRCm39) probably null Het
Cdh19 G T 1: 110,817,461 (GRCm39) S760R probably benign Het
Cecr2 G A 6: 120,739,519 (GRCm39) probably null Het
Chid1 A T 7: 141,112,841 (GRCm39) M1K probably null Het
Dzank1 T C 2: 144,348,143 (GRCm39) T208A probably benign Het
Ecm2 T A 13: 49,671,920 (GRCm39) Y140* probably null Het
Enox2 A G X: 48,102,393 (GRCm39) L533S possibly damaging Het
Fntb A G 12: 76,934,631 (GRCm39) E167G possibly damaging Het
Gpihbp1 T C 15: 75,469,461 (GRCm39) V92A probably benign Het
Grsf1 C T 5: 88,813,762 (GRCm39) R329Q probably benign Het
Gtpbp4 T A 13: 9,035,249 (GRCm39) D370V probably benign Het
H2ac4 T C 13: 23,935,207 (GRCm39) V31A probably benign Het
Klhl14 T A 18: 21,690,977 (GRCm39) Y491F probably damaging Het
Lamb3 A T 1: 193,014,530 (GRCm39) Q563L probably damaging Het
Mbl1 T C 14: 40,875,608 (GRCm39) S21P possibly damaging Het
Myrip G A 9: 120,296,631 (GRCm39) probably null Het
Nmur2 T C 11: 55,931,190 (GRCm39) T174A probably benign Het
Odf1 C A 15: 38,226,623 (GRCm39) Y174* probably null Het
Optn A G 2: 5,036,084 (GRCm39) V466A possibly damaging Het
Or5m12 A T 2: 85,734,494 (GRCm39) D301E possibly damaging Het
Or8b9 T A 9: 37,766,234 (GRCm39) V40E possibly damaging Het
Or8g54 A T 9: 39,706,808 (GRCm39) I46F probably damaging Het
Pde9a G A 17: 31,680,667 (GRCm39) S316N probably benign Het
Phf3 A T 1: 30,869,032 (GRCm39) I672K probably damaging Het
Pklr A T 3: 89,044,710 (GRCm39) I63F probably damaging Het
Plet1 T C 9: 50,410,387 (GRCm39) probably benign Het
Pp2d1 T A 17: 53,822,433 (GRCm39) D211V probably damaging Het
Ppp6r3 A T 19: 3,542,494 (GRCm39) W384R probably damaging Het
Prdm11 T C 2: 92,806,048 (GRCm39) I301V probably damaging Het
Prkar1a C T 11: 109,558,351 (GRCm39) R357C probably damaging Het
Ptchd1 T C X: 154,356,548 (GRCm39) T886A probably damaging Het
Ptpre A T 7: 135,260,831 (GRCm39) E156V possibly damaging Het
Ptprq T C 10: 107,482,478 (GRCm39) T1032A probably damaging Het
Rras2 A G 7: 113,659,623 (GRCm39) I47T probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Sh3rf3 T A 10: 58,971,650 (GRCm39) V826E probably damaging Het
Tmem127 T A 2: 127,099,026 (GRCm39) S132T probably damaging Het
Tnrc6c C A 11: 117,612,025 (GRCm39) P221Q probably benign Het
Tstd3 A T 4: 21,759,366 (GRCm39) probably benign Het
Usp46 T G 5: 74,189,867 (GRCm39) T55P probably damaging Het
Other mutations in Lcn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16