Incidental Mutation 'IGL02577:Lcn2'
ID 299235
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 # IGL02577
Quality Score
Status
Chromosome 2
Chromosomal Location 32274649-32277751 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32277101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 158 (Y158H)
Ref Sequence ENSEMBL: ENSMUSP00000141430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050785] [ENSMUST00000192241]
AlphaFold P11672
Predicted Effect possibly damaging
Transcript: ENSMUST00000050785
AA Change: Y72H

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822
AA Change: Y72H

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: Y158H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822
AA Change: Y158H

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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T C 1: 127,667,696 (GRCm39) I40T probably benign Het
Adgrg3 C T 8: 95,766,555 (GRCm39) R409C probably damaging Het
Cpa5 G T 6: 30,626,807 (GRCm39) probably benign Het
Idi2l C A 13: 8,993,288 (GRCm39) Q68H probably damaging Het
Ippk G A 13: 49,615,134 (GRCm39) V506I possibly damaging Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Mrgpra4 T A 7: 47,630,981 (GRCm39) T207S probably benign Het
Or1e30 T C 11: 73,677,872 (GRCm39) L36P probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Poln T A 5: 34,270,679 (GRCm39) M451L probably benign Het
Rrh A C 3: 129,609,372 (GRCm39) V45G probably damaging Het
Smg1 A T 7: 117,802,345 (GRCm39) M251K probably damaging Het
Tdrd6 T A 17: 43,937,728 (GRCm39) I1107F probably damaging Het
Tgm5 T C 2: 120,908,084 (GRCm39) I31V probably benign Het
Vps36 C T 8: 22,701,632 (GRCm39) Q240* probably null Het
Wdr6 C T 9: 108,453,140 (GRCm39) V248I possibly damaging Het
Zfp143 A G 7: 109,691,114 (GRCm39) E555G 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
IGL02108:Lcn2 APN 2 32,277,617 (GRCm39) missense probably damaging 0.99
IGL02215:Lcn2 APN 2 32,274,877 (GRCm39) makesense probably null
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