Incidental Mutation 'IGL01885:Lbp'
ID 179096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lbp
Ensembl Gene ENSMUSG00000016024
Gene Name lipopolysaccharide binding protein
Synonyms Bpifd2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01885
Quality Score
Status
Chromosome 2
Chromosomal Location 158148413-158174772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 158166493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 349 (L349Q)
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: L349Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016168
Gene: ENSMUSG00000016024
AA Change: L349Q

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 probably benign
Transcript: ENSMUST00000129811
SMART Domains Protein: ENSMUSP00000118297
Gene: ENSMUSG00000016024

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
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,774,575 (GRCm39) V568A possibly damaging Het
Abcb11 T A 2: 69,117,971 (GRCm39) Q469L probably damaging Het
Ahsg G A 16: 22,717,731 (GRCm39) G264E probably damaging Het
Ankar T C 1: 72,697,862 (GRCm39) Y788C probably damaging Het
Birc6 T A 17: 74,911,511 (GRCm39) F1508I possibly damaging Het
Cd6 C A 19: 10,776,601 (GRCm39) Q141H probably benign Het
Cercam A C 2: 29,771,015 (GRCm39) T471P probably damaging Het
Cux1 T C 5: 136,337,301 (GRCm39) D729G possibly damaging Het
Dglucy T A 12: 100,816,540 (GRCm39) F394Y probably damaging Het
E130308A19Rik A G 4: 59,720,004 (GRCm39) N512S probably benign Het
Ephb4 T C 5: 137,356,059 (GRCm39) C223R probably damaging Het
Gcn1 T A 5: 115,714,174 (GRCm39) probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hirip3 T A 7: 126,463,381 (GRCm39) S446T probably benign Het
Hoxa5 A T 6: 52,179,647 (GRCm39) F243I probably damaging Het
Iars1 T C 13: 49,844,975 (GRCm39) V162A probably benign Het
Lama2 G A 10: 26,981,135 (GRCm39) R1840* probably null Het
Lrp4 T C 2: 91,331,452 (GRCm39) I1604T probably benign Het
Mapk10 T C 5: 103,144,455 (GRCm39) K121E probably damaging Het
Nav3 T A 10: 109,578,521 (GRCm39) R1579* probably null Het
Obscn T C 11: 58,965,794 (GRCm39) D652G possibly damaging Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or5b117 G A 19: 13,431,449 (GRCm39) T144I probably benign Het
Or7g30 A G 9: 19,352,760 (GRCm39) I184V probably benign Het
Ostm1 C T 10: 42,574,147 (GRCm39) S280L possibly damaging Het
Peak1 C T 9: 56,167,388 (GRCm39) R180K probably damaging Het
Plcz1 T C 6: 139,947,837 (GRCm39) Y515C probably benign Het
Postn T C 3: 54,283,455 (GRCm39) probably benign Het
Ptchd4 C T 17: 42,814,493 (GRCm39) T798I probably damaging Het
Rnf41 A T 10: 128,271,344 (GRCm39) N85Y probably damaging Het
Shisa7 A T 7: 4,833,825 (GRCm39) H323Q probably damaging Het
Slco2a1 T A 9: 102,951,629 (GRCm39) M386K probably damaging Het
St18 G A 1: 6,914,596 (GRCm39) probably null Het
Stra6 T A 9: 58,048,431 (GRCm39) L175M probably damaging Het
Tmem67 A G 4: 12,057,389 (GRCm39) L600P probably damaging Het
Try5 G T 6: 41,288,672 (GRCm39) N182K possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo7 G A 14: 70,903,475 (GRCm39) T1078I probably benign Het
Zan G A 5: 137,462,386 (GRCm39) T931I unknown Het
Other mutations in Lbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Lbp APN 2 158,170,332 (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
R4058:Lbp UTSW 2 158,166,550 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-05-07