Incidental Mutation 'IGL00903:Lcn12'
ID26833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcn12
Ensembl Gene ENSMUSG00000026943
Gene Namelipocalin 12
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00903
Quality Score
Status
Chromosome2
Chromosomal Location25490845-25493911 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 25493320 bp
ZygosityHeterozygous
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]
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
1500012F01Rik G T 2: 167,065,486 probably benign Het
Arsk A G 13: 76,098,368 probably null Het
As3mt A G 19: 46,712,234 I159V probably benign Het
Ctsll3 C A 13: 60,800,261 V201L probably benign Het
Dapk1 T C 13: 60,761,397 Y1275H probably damaging Het
Erap1 G A 13: 74,673,707 R727H probably benign Het
Fam173b T C 15: 31,606,115 V73A possibly damaging Het
Fcrl6 T A 1: 172,599,107 T91S probably benign Het
Gvin1 T C 7: 106,158,170 E2364G probably benign Het
Hacd3 T C 9: 65,004,253 probably benign Het
Hcls1 T A 16: 36,956,021 probably null Het
Igf2r C T 17: 12,683,867 R2432H possibly damaging Het
Kif27 C A 13: 58,344,672 V218F possibly damaging Het
Klhl20 T C 1: 161,090,506 Y70C probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Mrgpra1 T C 7: 47,335,578 M118V probably benign Het
Nacad G T 11: 6,600,632 T853K probably damaging Het
Nos3 A T 5: 24,369,862 Q293L probably damaging Het
Prkca C T 11: 107,983,974 V381M probably damaging Het
Ptcd3 A G 6: 71,907,844 F37S possibly damaging Het
Ptgs2 A G 1: 150,104,424 Y371C probably damaging Het
Pygl T C 12: 70,207,742 Y143C probably damaging Het
Samhd1 A G 2: 157,107,423 probably benign Het
Scube1 T A 15: 83,703,501 H89L probably damaging Het
Tmem59l G A 8: 70,485,665 probably benign Het
Vmn2r108 A G 17: 20,462,512 V810A probably damaging Het
Vmn2r61 T G 7: 42,300,511 F785C probably damaging Het
Other mutations in Lcn12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03114:Lcn12 APN 2 25493262 missense probably benign 0.40
R1738:Lcn12 UTSW 2 25493251 missense probably damaging 1.00
R4687:Lcn12 UTSW 2 25493321 missense probably benign 0.02
R5782:Lcn12 UTSW 2 25493757 missense probably damaging 1.00
R8347:Lcn12 UTSW 2 25492033 missense possibly damaging 0.89
Z1177:Lcn12 UTSW 2 25492241 missense probably benign 0.12
Posted On2013-04-17