Incidental Mutation 'R4058:Lbp'
ID 314326
Institutional Source Beutler Lab
Gene Symbol Lbp
Ensembl Gene ENSMUSG00000016024
Gene Name lipopolysaccharide binding protein
Synonyms Bpifd2
MMRRC Submission 040969-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4058 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 158148413-158174772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 158166550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 368 (V368E)
Ref Sequence ENSEMBL: ENSMUSP00000016168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016168]
AlphaFold Q61805
PDB Structure Crystal structure of lipopolysaccharide binding protein [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000016168
AA Change: V368E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016168
Gene: ENSMUSG00000016024
AA Change: V368E

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
BPI1 33 256 1.6e-88 SMART
BPI2 271 474 4.59e-89 SMART
Predicted Effect unknown
Transcript: ENSMUST00000129811
AA Change: V141E
SMART Domains Protein: ENSMUSP00000118297
Gene: ENSMUSG00000016024
AA Change: V141E

DomainStartEndE-ValueType
SCOP:d1ewfa1 2 48 1e-15 SMART
Pfam:LBP_BPI_CETP_C 49 139 2.9e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152541
Meta Mutation Damage Score 0.5357 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 88% (38/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous mice have a generally normal phenotype but have an increased sensitivity to infection by gram negative bacteria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,821 (GRCm39) V301A probably benign Het
Adam15 A G 3: 89,254,362 (GRCm39) V145A possibly damaging Het
Anxa4 C T 6: 86,734,800 (GRCm39) probably null Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Atp13a3 C A 16: 30,173,064 (GRCm39) C271F possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cldn34c4 C A X: 126,629,060 (GRCm39) V137F probably benign Het
Cngb1 T C 8: 95,994,282 (GRCm39) E163G probably benign Het
Dync1i1 A G 6: 5,769,764 (GRCm39) D113G probably damaging Het
Etl4 T A 2: 20,810,830 (GRCm39) V971D possibly damaging Het
Gys1 A G 7: 45,097,810 (GRCm39) probably benign Het
H13 C G 2: 152,533,794 (GRCm39) P227R probably damaging Het
Ift22 C A 5: 136,940,717 (GRCm39) P84Q unknown Het
Igfn1 A G 1: 135,897,494 (GRCm39) V1024A probably benign Het
Kdm8 T A 7: 125,055,666 (GRCm39) Y65N probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Megf6 T C 4: 154,326,989 (GRCm39) probably benign Het
Mettl13 G T 1: 162,373,755 (GRCm39) H165Q probably damaging Het
Mitd1 C T 1: 37,920,107 (GRCm39) S167N probably benign Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Nkx3-2 T A 5: 41,919,406 (GRCm39) E194V possibly damaging Het
Nup210 A T 6: 91,037,602 (GRCm39) V757D probably benign Het
Opcml A G 9: 28,812,884 (GRCm39) Y192C probably damaging Het
Or10ak7 T C 4: 118,791,880 (GRCm39) D53G probably damaging Het
Or5m8 T A 2: 85,822,576 (GRCm39) S138R possibly damaging Het
Pcdha2 A G 18: 37,072,935 (GRCm39) S189G probably benign Het
Pkd2l2 T C 18: 34,561,245 (GRCm39) F418L probably benign Het
Plekhg1 A G 10: 3,907,087 (GRCm39) D668G probably damaging Het
Prep G A 10: 45,034,467 (GRCm39) V660M probably benign Het
Qrfprl T A 6: 65,358,525 (GRCm39) I83N probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Rhbdd1 A G 1: 82,348,102 (GRCm39) N235D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Sgo2b A T 8: 64,379,981 (GRCm39) D950E probably damaging Het
Slc1a5 T C 7: 16,529,778 (GRCm39) V399A probably damaging Het
Spag16 A T 1: 69,892,487 (GRCm39) Q89H probably damaging Het
Spta1 T C 1: 174,068,703 (GRCm39) W2168R probably damaging Het
Taok1 T A 11: 77,440,264 (GRCm39) K581M probably benign Het
Tns3 T C 11: 8,442,275 (GRCm39) D696G probably damaging Het
Tspan8 C T 10: 115,671,187 (GRCm39) R115* probably null Het
Txnrd1 A G 10: 82,721,114 (GRCm39) E510G probably benign Het
Usp45 T C 4: 21,810,746 (GRCm39) I314T probably damaging Het
Vmn2r15 T A 5: 109,441,312 (GRCm39) H182L probably damaging Het
Vmn2r76 A C 7: 85,879,508 (GRCm39) M264R probably benign Het
Other mutations in Lbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Lbp APN 2 158,170,332 (GRCm39) missense probably damaging 1.00
IGL01885:Lbp APN 2 158,166,493 (GRCm39) missense probably damaging 1.00
IGL02224:Lbp APN 2 158,148,669 (GRCm39) missense probably damaging 1.00
R0144:Lbp UTSW 2 158,161,630 (GRCm39) missense probably damaging 1.00
R0478:Lbp UTSW 2 158,159,448 (GRCm39) splice site probably benign
R1479:Lbp UTSW 2 158,161,634 (GRCm39) missense probably damaging 1.00
R1569:Lbp UTSW 2 158,161,607 (GRCm39) missense probably damaging 1.00
R2061:Lbp UTSW 2 158,166,499 (GRCm39) missense probably benign 0.28
R4854:Lbp UTSW 2 158,169,438 (GRCm39) missense possibly damaging 0.58
R5027:Lbp UTSW 2 158,150,646 (GRCm39) missense possibly damaging 0.61
R5749:Lbp UTSW 2 158,161,673 (GRCm39) missense probably damaging 1.00
R5910:Lbp UTSW 2 158,166,477 (GRCm39) missense probably benign 0.02
R6135:Lbp UTSW 2 158,159,469 (GRCm39) missense probably benign 0.09
R6650:Lbp UTSW 2 158,151,587 (GRCm39) missense probably benign 0.36
R9406:Lbp UTSW 2 158,159,477 (GRCm39) missense probably benign 0.06
Z1176:Lbp UTSW 2 158,167,682 (GRCm39) missense probably damaging 1.00
Z1177:Lbp UTSW 2 158,162,226 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AGACTCTGTGGCCCTGTTTC -3'
(R):5'- ATGCCTAGGTAATAAACACCATGAGG -3'

Sequencing Primer
(F):5'- CCTTCTTCTGACACGATCGATC -3'
(R):5'- GAGTGCCACAATCTTAAAAATGC -3'
Posted On 2015-04-30