Incidental Mutation 'IGL01093:Lcn5'
ID 50485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcn5
Ensembl Gene ENSMUSG00000026937
Gene Name lipocalin 5
Synonyms MEP10, mE-RABP, Erabp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL01093
Quality Score
Status
Chromosome 2
Chromosomal Location 25547964-25551989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25550729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 139 (V139A)
Ref Sequence ENSEMBL: ENSMUSP00000097888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028306] [ENSMUST00000038482] [ENSMUST00000100312] [ENSMUST00000100313]
AlphaFold A2AJB7
Predicted Effect probably benign
Transcript: ENSMUST00000028306
AA Change: V139A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028306
Gene: ENSMUSG00000026937
AA Change: V139A

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Lipocalin 41 180 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038482
SMART Domains Protein: ENSMUSP00000043902
Gene: ENSMUSG00000036449

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Lipocalin 33 159 2.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100312
AA Change: V139A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097887
Gene: ENSMUSG00000026937
AA Change: V139A

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Lipocalin 41 180 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100313
AA Change: V139A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097888
Gene: ENSMUSG00000026937
AA Change: V139A

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Lipocalin 41 180 2.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143401
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a small secreted protein that is expressed in the epididymis and binds retinoic acid. The precursor protein is processed into both a longer major form and a shorter minor form. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 C T 13: 4,631,139 (GRCm39) probably benign Het
Alpk2 A G 18: 65,482,400 (GRCm39) L69P probably damaging Het
C3 G T 17: 57,530,949 (GRCm39) P384Q probably damaging Het
Cobll1 T C 2: 64,928,581 (GRCm39) E953G probably damaging Het
Dnaaf9 T C 2: 130,619,156 (GRCm39) T281A probably benign Het
Dnmt1 C T 9: 20,821,081 (GRCm39) E1269K possibly damaging Het
Dync2h1 T C 9: 7,145,611 (GRCm39) R1012G probably benign Het
Fbxw24 T A 9: 109,434,041 (GRCm39) Q423L probably benign Het
Flg2 T C 3: 93,109,678 (GRCm39) S569P unknown Het
Ier5 A G 1: 154,975,139 (GRCm39) I13T probably damaging Het
Kat6a A G 8: 23,429,337 (GRCm39) D1564G possibly damaging Het
Naca A G 10: 127,883,982 (GRCm39) S2138G probably damaging Het
Or1j15 T G 2: 36,458,838 (GRCm39) V76G probably damaging Het
Or5p59 T A 7: 107,702,851 (GRCm39) S112T probably benign Het
Or5w14 T G 2: 87,541,477 (GRCm39) M258L possibly damaging Het
Or6c66 A C 10: 129,461,432 (GRCm39) F166C probably damaging Het
Or6c74 A G 10: 129,869,761 (GRCm39) T89A probably benign Het
Pcdhgb8 A G 18: 37,958,089 (GRCm39) T813A probably damaging Het
Pkd1l1 T C 11: 8,851,345 (GRCm39) T696A probably benign Het
Rif1 T G 2: 51,985,960 (GRCm39) H648Q probably damaging Het
Secisbp2l C A 2: 125,582,245 (GRCm39) K1070N probably benign Het
Spock3 G A 8: 63,801,993 (GRCm39) R327Q probably benign Het
Trpm2 A G 10: 77,768,114 (GRCm39) I795T probably benign Het
Ube4b T C 4: 149,414,726 (GRCm39) I1128V probably benign Het
Vmn1r225 A T 17: 20,723,081 (GRCm39) D174V probably damaging Het
Xpnpep3 T A 15: 81,320,969 (GRCm39) Y283N possibly damaging Het
Zfp9 C T 6: 118,442,800 (GRCm39) A99T probably benign Het
Zfp944 A G 17: 22,562,615 (GRCm39) probably benign Het
Zscan4c G A 7: 10,743,544 (GRCm39) C381Y probably benign Het
Other mutations in Lcn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Lcn5 APN 2 25,548,462 (GRCm39) missense probably damaging 0.96
R0009:Lcn5 UTSW 2 25,551,417 (GRCm39) intron probably benign
R0045:Lcn5 UTSW 2 25,550,710 (GRCm39) missense probably damaging 0.98
R0045:Lcn5 UTSW 2 25,550,710 (GRCm39) missense probably damaging 0.98
R0356:Lcn5 UTSW 2 25,550,705 (GRCm39) missense probably damaging 0.97
R0733:Lcn5 UTSW 2 25,551,113 (GRCm39) missense probably damaging 1.00
R2068:Lcn5 UTSW 2 25,548,053 (GRCm39) missense probably damaging 0.98
R4628:Lcn5 UTSW 2 25,548,075 (GRCm39) missense possibly damaging 0.79
R4963:Lcn5 UTSW 2 25,551,426 (GRCm39) missense probably benign
R5437:Lcn5 UTSW 2 25,548,023 (GRCm39) missense probably benign 0.29
R7624:Lcn5 UTSW 2 25,551,426 (GRCm39) missense probably benign
R9696:Lcn5 UTSW 2 25,550,142 (GRCm39) missense probably benign
Posted On 2013-06-21