Incidental Mutation 'IGL03129:Lcn2'
ID410251
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 #IGL03129
Quality Score
Status
Chromosome2
Chromosomal Location32384633-32388252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32387704 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 91 (V91A)
Ref Sequence ENSEMBL: ENSMUSP00000141430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050785] [ENSMUST00000192241]
Predicted Effect probably benign
Transcript: ENSMUST00000050785
AA Change: V5A

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822
AA Change: V5A

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 possibly damaging
Transcript: ENSMUST00000192241
AA Change: V91A

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822
AA Change: V91A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,379 V403A probably damaging Het
Adpgk T C 9: 59,313,805 L298P probably damaging Het
Akap6 A T 12: 53,140,306 D1501V probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Ankhd1 T A 18: 36,658,008 Y2478* probably null Het
Col6a3 A G 1: 90,821,862 Y417H probably damaging Het
Csmd1 A G 8: 15,961,521 F2511L probably damaging Het
Dzip3 T C 16: 48,942,083 M602V possibly damaging Het
Efna2 G A 10: 80,188,512 probably null Het
Fzd8 T C 18: 9,214,270 S451P probably damaging Het
Galntl6 A T 8: 58,427,716 D134E probably damaging Het
Gm10334 T C 6: 41,443,498 N98S probably benign Het
Grid2 T C 6: 64,063,904 S277P probably damaging Het
Lrp1b G A 2: 41,312,466 probably benign Het
Lrrc7 T A 3: 158,161,059 Y1015F probably benign Het
Mdn1 T A 4: 32,729,994 C2779S possibly damaging Het
Nlrp10 A T 7: 108,924,911 F454Y probably damaging Het
Obox5 T A 7: 15,758,759 L213Q probably damaging Het
Olfr97 T A 17: 37,232,196 Y58F probably damaging Het
Piezo2 T C 18: 63,114,972 M486V probably benign Het
Plcg1 A C 2: 160,774,526 probably null Het
Polr1b G A 2: 129,115,707 V561I probably benign Het
Polr3c A T 3: 96,719,454 probably benign Het
Prkg1 T A 19: 30,585,281 K523* probably null Het
Sema3b T A 9: 107,599,796 probably benign Het
Sp9 A G 2: 73,273,521 T140A probably benign Het
Zfp507 T C 7: 35,794,206 R471G 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
IGL02108:Lcn2 APN 2 32387605 missense probably damaging 0.99
IGL02215:Lcn2 APN 2 32384865 makesense probably null
IGL02577:Lcn2 APN 2 32387089 missense probably damaging 0.97
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 On2016-08-02