Incidental Mutation 'IGL01913:Lcn2'
ID179864
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 #IGL01913
Quality Score
Status
Chromosome2
Chromosomal Location32384633-32388252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32387145 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 139 (V139A)
Ref Sequence ENSEMBL: ENSMUSP00000141430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050785] [ENSMUST00000192241]
Predicted Effect probably benign
Transcript: ENSMUST00000050785
AA Change: V53A

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822
AA Change: V53A

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: V139A

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822
AA Change: V139A

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
Acvr2a A G 2: 48,899,613 E456G probably damaging Het
Ahnak A T 19: 9,006,064 K1571* probably null Het
Arhgef2 G A 3: 88,631,919 V58M probably damaging Het
Ash2l A G 8: 25,819,624 probably null Het
C3 T C 17: 57,213,767 N1163S probably null Het
Cbfa2t2 A G 2: 154,517,773 T253A probably damaging Het
Dnah5 T C 15: 28,313,753 V1905A possibly damaging Het
Dsg1a C T 18: 20,322,236 R86C probably damaging Het
Fastkd1 A T 2: 69,708,501 probably benign Het
Fat3 T C 9: 15,998,790 D1972G probably damaging Het
Fxyd5 T C 7: 31,035,212 T163A probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H6pd A T 4: 149,994,463 probably benign Het
Klhdc2 T G 12: 69,302,358 S90A probably benign Het
Nup205 A G 6: 35,227,430 E1417G probably benign Het
Olfr1102 A T 2: 87,002,820 M284L possibly damaging Het
Olfr1250 T G 2: 89,657,340 I34L probably benign Het
Olfr209 A T 16: 59,361,931 C96S probably damaging Het
Pcdh18 C A 3: 49,755,249 S539I possibly damaging Het
Stat1 T C 1: 52,126,557 I104T probably benign Het
Tmem151a G A 19: 5,081,892 R429C probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdpcp A G 11: 21,748,931 D570G probably damaging Het
Zfp429 T C 13: 67,396,674 Y27C probably damaging Het
Zfp462 T C 4: 55,012,138 V1368A probably benign Het
Zfp651 T C 9: 121,763,969 C452R 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
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
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
Posted On2014-05-07