Incidental Mutation 'R0356:Lcn5'
ID 29810
Institutional Source Beutler Lab
Gene Symbol Lcn5
Ensembl Gene ENSMUSG00000026937
Gene Name lipocalin 5
Synonyms MEP10, mE-RABP, Erabp
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R0356 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25547964-25551989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25550705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 131 (I131T)
Ref Sequence ENSEMBL: ENSMUSP00000097888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028306] [ENSMUST00000038482] [ENSMUST00000100312] [ENSMUST00000100313]
AlphaFold A2AJB7
Predicted Effect probably damaging
Transcript: ENSMUST00000028306
AA Change: I131T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028306
Gene: ENSMUSG00000026937
AA Change: I131T

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 damaging
Transcript: ENSMUST00000100312
AA Change: I131T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097887
Gene: ENSMUSG00000026937
AA Change: I131T

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Lipocalin 41 180 1.6e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100313
AA Change: I131T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097888
Gene: ENSMUSG00000026937
AA Change: I131T

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Lipocalin 41 180 2.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143401
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Lcn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01093:Lcn5 APN 2 25,550,729 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGAAGGTTACCCAGACTCTCAAGG -3'
(R):5'- AGAGCTTCCCCATTGTTGTCCAAG -3'

Sequencing Primer
(F):5'- ACTTCAGGCTGTCCCAGTATG -3'
(R):5'- ATGGGACAGGGCTTCTATATCAC -3'
Posted On 2013-04-24