Incidental Mutation 'IGL03114:Lcn12'
ID 419317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcn12
Ensembl Gene ENSMUSG00000026943
Gene Name lipocalin 12
Synonyms 9230102M18Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL03114
Quality Score
Status
Chromosome 2
Chromosomal Location 25380857-25383923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25383274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 35 (K35E)
Ref Sequence ENSEMBL: ENSMUSP00000109883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028312] [ENSMUST00000114245]
AlphaFold Q6JVL5
Predicted Effect probably benign
Transcript: ENSMUST00000028312
AA Change: K71E

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028312
Gene: ENSMUSG00000026943
AA Change: K71E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Lipocalin 40 185 2.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114245
AA Change: K35E

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109883
Gene: ENSMUSG00000026943
AA Change: K35E

DomainStartEndE-ValueType
Pfam:Lipocalin 4 149 2.9e-23 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the lipocalin family, such as LCN12, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A T 3: 59,651,144 (GRCm39) I89F possibly damaging Het
Abca13 T A 11: 9,478,999 (GRCm39) H4282Q probably benign Het
Acta2 A G 19: 34,222,310 (GRCm39) probably null Het
Arl10 A G 13: 54,723,579 (GRCm39) probably benign Het
Avpr1a A G 10: 122,285,623 (GRCm39) Y305C probably damaging Het
Bmpr2 T A 1: 59,906,603 (GRCm39) N565K probably damaging Het
Boc A T 16: 44,307,115 (GRCm39) S1035R probably benign Het
Brd10 A T 19: 29,694,532 (GRCm39) S1654T probably benign Het
Ccdc7a T C 8: 129,753,170 (GRCm39) N187S possibly damaging Het
Cntn5 C T 9: 9,748,457 (GRCm39) E680K probably damaging Het
Copa T A 1: 171,946,835 (GRCm39) Y1014* probably null Het
Csmd3 A G 15: 47,683,847 (GRCm39) S1662P probably damaging Het
Cyp2e1 T C 7: 140,353,042 (GRCm39) F360L possibly damaging Het
Efnb3 A T 11: 69,447,628 (GRCm39) probably benign Het
Egf A T 3: 129,530,529 (GRCm39) L211Q probably damaging Het
Eno1 G A 4: 150,325,583 (GRCm39) R56H probably benign Het
Fyb2 A G 4: 104,852,975 (GRCm39) T552A probably damaging Het
Git2 G A 5: 114,871,918 (GRCm39) probably benign Het
Gtf2ird2 A G 5: 134,245,752 (GRCm39) probably null Het
Hyal4 A T 6: 24,755,964 (GRCm39) I61L probably benign Het
Kat14 T C 2: 144,217,885 (GRCm39) probably null Het
Kif13b T C 14: 65,025,897 (GRCm39) V1418A probably benign Het
Lyrm7 G T 11: 54,741,198 (GRCm39) N45K possibly damaging Het
Mical2 G T 7: 111,996,764 (GRCm39) G559V probably damaging Het
Mtrr A T 13: 68,712,441 (GRCm39) C648* probably null Het
Muc5b C A 7: 141,412,556 (GRCm39) S1834* probably null Het
Mup16 G A 4: 61,436,250 (GRCm39) T101M probably benign Het
Myof A T 19: 37,892,309 (GRCm39) L1148Q probably damaging Het
Nags A T 11: 102,039,814 (GRCm39) I501F probably damaging Het
Nbeal1 A T 1: 60,317,886 (GRCm39) Y672F probably damaging Het
Ncapg2 A G 12: 116,415,993 (GRCm39) probably benign Het
Obscn A G 11: 58,891,365 (GRCm39) S7056P unknown Het
Or52s1 T C 7: 102,861,928 (GRCm39) I287T probably damaging Het
Pde2a C A 7: 101,157,890 (GRCm39) probably benign Het
Piezo2 T C 18: 63,163,343 (GRCm39) probably null Het
Pkhd1 C A 1: 20,268,395 (GRCm39) D3328Y probably damaging Het
Plxdc2 T C 2: 16,654,935 (GRCm39) V178A probably damaging Het
Prdx3 T C 19: 60,861,556 (GRCm39) probably benign Het
Prkce T A 17: 86,961,983 (GRCm39) D694E probably damaging Het
Prss1l T A 6: 41,374,012 (GRCm39) C205S probably damaging Het
Ptdss1 T A 13: 67,142,058 (GRCm39) Y405* probably null Het
Rad54l A T 4: 115,955,729 (GRCm39) W608R probably damaging Het
Rassf6 G T 5: 90,756,649 (GRCm39) probably benign Het
Sema5a A T 15: 32,673,573 (GRCm39) I804F probably damaging Het
Slc15a2 A T 16: 36,572,267 (GRCm39) I668N probably damaging Het
Thsd7b A G 1: 130,116,288 (GRCm39) E1347G probably benign Het
Tmco3 T C 8: 13,348,205 (GRCm39) probably benign Het
Ttn T C 2: 76,551,996 (GRCm39) M31214V probably null Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Ugt2b5 T C 5: 87,276,209 (GRCm39) Y355C probably damaging Het
Usp48 C A 4: 137,383,436 (GRCm39) T1031K probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn1r202 T A 13: 22,685,500 (GRCm39) probably benign Het
Vmn2r90 T C 17: 17,953,771 (GRCm39) I645T probably damaging Het
Vps18 T C 2: 119,124,132 (GRCm39) V353A possibly damaging Het
Vwf C T 6: 125,576,326 (GRCm39) Q469* probably null Het
Other mutations in Lcn12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Lcn12 APN 2 25,383,332 (GRCm39) missense possibly damaging 0.93
R1738:Lcn12 UTSW 2 25,383,263 (GRCm39) missense probably damaging 1.00
R4687:Lcn12 UTSW 2 25,383,333 (GRCm39) missense probably benign 0.02
R5782:Lcn12 UTSW 2 25,383,769 (GRCm39) missense probably damaging 1.00
R8347:Lcn12 UTSW 2 25,382,045 (GRCm39) missense possibly damaging 0.89
R9238:Lcn12 UTSW 2 25,382,273 (GRCm39) missense possibly damaging 0.62
Z1177:Lcn12 UTSW 2 25,382,253 (GRCm39) missense probably benign 0.12
Posted On 2016-08-02