Incidental Mutation 'IGL00903:Lcn12'
ID 26833
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 # IGL00903
Quality Score
Status
Chromosome 2
Chromosomal Location 25380857-25383923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25383332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 15 (N15K)
Ref Sequence ENSEMBL: ENSMUSP00000109883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028312] [ENSMUST00000114245]
AlphaFold Q6JVL5
Predicted Effect possibly damaging
Transcript: ENSMUST00000028312
AA Change: N51K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028312
Gene: ENSMUSG00000026943
AA Change: N51K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Lipocalin 40 185 2.2e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114245
AA Change: N15K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109883
Gene: ENSMUSG00000026943
AA Change: N15K

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsk A G 13: 76,246,487 (GRCm39) probably null Het
As3mt A G 19: 46,700,673 (GRCm39) I159V probably benign Het
Atpsckmt T C 15: 31,606,261 (GRCm39) V73A possibly damaging Het
Ctsll3 C A 13: 60,948,075 (GRCm39) V201L probably benign Het
Dapk1 T C 13: 60,909,211 (GRCm39) Y1275H probably damaging Het
Erap1 G A 13: 74,821,826 (GRCm39) R727H probably benign Het
Fcrl6 T A 1: 172,426,674 (GRCm39) T91S probably benign Het
Gvin1 T C 7: 105,757,377 (GRCm39) E2364G probably benign Het
Hacd3 T C 9: 64,911,535 (GRCm39) probably benign Het
Hcls1 T A 16: 36,776,383 (GRCm39) probably null Het
Igf2r C T 17: 12,902,754 (GRCm39) R2432H possibly damaging Het
Kif27 C A 13: 58,492,486 (GRCm39) V218F possibly damaging Het
Klhl20 T C 1: 160,918,076 (GRCm39) Y70C probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Mrgpra1 T C 7: 46,985,326 (GRCm39) M118V probably benign Het
Nacad G T 11: 6,550,632 (GRCm39) T853K probably damaging Het
Nos3 A T 5: 24,574,860 (GRCm39) Q293L probably damaging Het
Prkca C T 11: 107,874,800 (GRCm39) V381M probably damaging Het
Ptcd3 A G 6: 71,884,828 (GRCm39) F37S possibly damaging Het
Ptgs2 A G 1: 149,980,175 (GRCm39) Y371C probably damaging Het
Pygl T C 12: 70,254,516 (GRCm39) Y143C probably damaging Het
Samhd1 A G 2: 156,949,343 (GRCm39) probably benign Het
Scube1 T A 15: 83,587,702 (GRCm39) H89L probably damaging Het
Tmem59l G A 8: 70,938,315 (GRCm39) probably benign Het
Vmn2r108 A G 17: 20,682,774 (GRCm39) V810A probably damaging Het
Vmn2r61 T G 7: 41,949,935 (GRCm39) F785C probably damaging Het
Zfas1 G T 2: 166,907,406 (GRCm39) probably benign Het
Other mutations in Lcn12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03114:Lcn12 APN 2 25,383,274 (GRCm39) missense probably benign 0.40
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 2013-04-17