Incidental Mutation 'IGL02108:Lcn2'
ID280039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcn2
Ensembl Gene ENSMUSG00000026822
Gene Namelipocalin 2
SynonymsNGAL, 24p3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02108
Quality Score
Status
Chromosome2
Chromosomal Location32384633-32388252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32387605 bp
ZygosityHeterozygous
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]
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: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccdc190 A G 1: 169,933,986 D219G probably damaging Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Cecr2 G A 6: 120,762,558 probably null Het
Chid1 A T 7: 141,532,928 M1K probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Gpihbp1 T C 15: 75,597,612 V92A probably benign Het
Grsf1 C T 5: 88,665,903 R329Q probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Mbl1 T C 14: 41,153,651 S21P possibly damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Odf1 C A 15: 38,226,379 Y174* probably null Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Pde9a G A 17: 31,461,693 S316N probably benign Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tmem127 T A 2: 127,257,106 S132T probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P probably damaging Het
Other mutations in Lcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00935:Lcn2 APN 2 32387578 critical splice donor site probably null
IGL01327:Lcn2 APN 2 32386018 missense possibly damaging 0.62
IGL01913:Lcn2 APN 2 32387145 missense possibly damaging 0.46
IGL02215:Lcn2 APN 2 32384865 makesense probably null
IGL02577:Lcn2 APN 2 32387089 missense probably damaging 0.97
IGL03129:Lcn2 APN 2 32387704 missense possibly damaging 0.70
R0302:Lcn2 UTSW 2 32384889 unclassified probably benign
R1864:Lcn2 UTSW 2 32385422 missense possibly damaging 0.77
R1865:Lcn2 UTSW 2 32385422 missense possibly damaging 0.77
R4093:Lcn2 UTSW 2 32387716 start codon destroyed probably null 1.00
R4621:Lcn2 UTSW 2 32384643 unclassified probably benign
R5236:Lcn2 UTSW 2 32385961 missense probably benign 0.06
R5716:Lcn2 UTSW 2 32385813 missense possibly damaging 0.88
R6785:Lcn2 UTSW 2 32387027 critical splice donor site probably null
R7059:Lcn2 UTSW 2 32387596 missense possibly damaging 0.85
R7514:Lcn2 UTSW 2 32387849 critical splice donor site probably null
R7596:Lcn2 UTSW 2 32385709 missense probably damaging 1.00
R7694:Lcn2 UTSW 2 32388030 missense unknown
R7778:Lcn2 UTSW 2 32387915 missense probably benign
Posted On2015-04-16