Incidental Mutation 'R7059:Lcn2'
ID 548110
Institutional Source Beutler Lab
Gene Symbol Lcn2
Ensembl Gene ENSMUSG00000026822
Gene Name lipocalin 2
Synonyms 24p3, neu-related lipocalin, NGAL, NRL
MMRRC Submission 045156-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7059 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32274649-32277751 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32277608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 127 (D127V)
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: D41V

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822
AA Change: D41V

DomainStartEndE-ValueType
Pfam:Lipocalin 48 195 2.2e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000192241
AA Change: D127V

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822
AA Change: D127V

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Pfam:Lipocalin 134 271 5.3e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,509 (GRCm39) probably benign Het
Abca16 A G 7: 120,020,971 (GRCm39) T5A probably benign Het
Abraxas1 T C 5: 100,954,103 (GRCm39) D349G probably benign Het
Adcyap1r1 T A 6: 55,468,295 (GRCm39) L405Q probably damaging Het
Aqp5 A T 15: 99,492,127 (GRCm39) T125S probably benign Het
Asah1 A T 8: 41,800,106 (GRCm39) N169K probably damaging Het
Atl3 A G 19: 7,511,333 (GRCm39) N515D probably benign Het
Atl3 A C 19: 7,511,334 (GRCm39) N520T probably benign Het
Atp6v1c2 C A 12: 17,339,005 (GRCm39) E249* probably null Het
Bcl2a1b T A 9: 89,081,813 (GRCm39) I134K probably damaging Het
Brd10 T A 19: 29,696,945 (GRCm39) E849D probably benign Het
Btbd10 C T 7: 112,929,129 (GRCm39) R159H probably damaging Het
Chmp6 T C 11: 119,806,866 (GRCm39) F7L probably damaging Het
Colq C A 14: 31,247,991 (GRCm39) C409F probably damaging Het
Cpox T A 16: 58,491,290 (GRCm39) V167E probably damaging Het
Cul3 T C 1: 80,254,141 (GRCm39) Y545C probably benign Het
Dqx1 C T 6: 83,041,790 (GRCm39) A544V probably benign Het
Dzip3 A G 16: 48,801,305 (GRCm39) I73T probably benign Het
Epha3 T A 16: 63,388,818 (GRCm39) Y810F probably damaging Het
Esp36 A T 17: 38,727,942 (GRCm39) I113N unknown Het
Fbxw17 T A 13: 50,586,584 (GRCm39) W429R probably damaging Het
Fcrl2 A T 3: 87,164,647 (GRCm39) I293N possibly damaging Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Gm8126 T A 14: 43,118,975 (GRCm39) L148H probably benign Het
Gpr39 C A 1: 125,605,696 (GRCm39) S208Y probably damaging Het
Heatr5a T C 12: 51,935,017 (GRCm39) E1662G probably damaging Het
Hgfac T A 5: 35,201,773 (GRCm39) L302Q possibly damaging Het
Itih1 G A 14: 30,653,266 (GRCm39) H721Y possibly damaging Het
Kat8 A G 7: 127,524,075 (GRCm39) I372V probably benign Het
Kcnk1 T A 8: 126,756,466 (GRCm39) Y329* probably null Het
Kcns2 A T 15: 34,838,981 (GRCm39) I115F probably damaging Het
Kif1a C T 1: 92,974,551 (GRCm39) probably benign Het
Lrfn1 T C 7: 28,166,355 (GRCm39) V583A possibly damaging Het
Map3k1 T C 13: 111,909,312 (GRCm39) I55V probably benign Het
Mapk9 T C 11: 49,757,874 (GRCm39) probably null Het
Mrpl18 A G 17: 13,132,668 (GRCm39) S154P possibly damaging Het
Mst1 C A 9: 107,961,263 (GRCm39) H524Q probably benign Het
Mtpap T C 18: 4,396,202 (GRCm39) L498P probably damaging Het
Myl3 C T 9: 110,571,105 (GRCm39) probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Mzf1 G T 7: 12,786,985 (GRCm39) S28R probably damaging Het
Olfm1 T C 2: 28,112,628 (GRCm39) S205P probably damaging Het
Or52e8 A T 7: 104,625,224 (GRCm39) probably null Het
Prrc2a G A 17: 35,376,364 (GRCm39) P809S probably damaging Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rbm48 A T 5: 3,640,625 (GRCm39) C251* probably null Het
Rxfp1 A T 3: 79,559,576 (GRCm39) V415E probably damaging Het
Slc12a6 T A 2: 112,183,257 (GRCm39) L748Q probably damaging Het
Slc19a3 T A 1: 83,000,090 (GRCm39) Y309F probably damaging Het
Slc36a1 A G 11: 55,114,498 (GRCm39) D192G probably damaging Het
Slc38a4 G T 15: 96,906,895 (GRCm39) S281* probably null Het
Syne1 A T 10: 5,296,859 (GRCm39) S1201T probably damaging Het
Tex15 C A 8: 34,064,758 (GRCm39) T1396K possibly damaging Het
Zswim8 G T 14: 20,764,641 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CCCCTAGGACACAGAATGATCATG -3'
(R):5'- TAAAGGATGGACTACCCCGC -3'

Sequencing Primer
(F):5'- TCATGTGTAGAAGCCTGGACACTG -3'
(R):5'- GGCCCATAAAAAGCCCGCTG -3'
Posted On 2019-05-13