Incidental Mutation 'R4058:Lbp'
ID314326
Institutional Source Beutler Lab
Gene Symbol Lbp
Ensembl Gene ENSMUSG00000016024
Gene Namelipopolysaccharide binding protein
SynonymsBpifd2
MMRRC Submission 040969-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4058 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location158306493-158332852 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 158324630 bp
ZygosityHeterozygous
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]
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: 64,766,458 V301A probably benign Het
Adam15 A G 3: 89,347,055 V145A possibly damaging Het
Anxa4 C T 6: 86,757,818 probably null Het
Aqp9 C A 9: 71,130,444 V184L probably benign Het
Atp13a3 C A 16: 30,354,246 C271F possibly damaging Het
B4galt3 C A 1: 171,274,043 H196N probably damaging Het
C130060K24Rik T A 6: 65,381,541 I83N probably damaging Het
Cldn34c4 C A X: 127,721,437 V137F probably benign Het
Cngb1 T C 8: 95,267,654 E163G probably benign Het
Dync1i1 A G 6: 5,769,764 D113G probably damaging Het
Etl4 T A 2: 20,806,019 V971D possibly damaging Het
Gys1 A G 7: 45,448,386 probably benign Het
H13 C G 2: 152,691,874 P227R probably damaging Het
Ift22 C A 5: 136,911,863 P84Q unknown Het
Igfn1 A G 1: 135,969,756 V1024A probably benign Het
Kdm8 T A 7: 125,456,494 Y65N probably damaging Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Megf6 T C 4: 154,242,532 probably benign Het
Mettl13 G T 1: 162,546,186 H165Q probably damaging Het
Mitd1 C T 1: 37,881,026 S167N probably benign Het
Mon2 A G 10: 123,002,819 V1593A probably benign Het
Nkx3-2 T A 5: 41,762,063 E194V possibly damaging Het
Nup210 A T 6: 91,060,620 V757D probably benign Het
Olfr1031 T A 2: 85,992,232 S138R possibly damaging Het
Olfr1328 T C 4: 118,934,683 D53G probably damaging Het
Opcml A G 9: 28,901,588 Y192C probably damaging Het
Pcdha2 A G 18: 36,939,882 S189G probably benign Het
Pkd2l2 T C 18: 34,428,192 F418L probably benign Het
Plekhg1 A G 10: 3,957,087 D668G probably damaging Het
Prep G A 10: 45,158,371 V660M probably benign Het
Rgs8 A G 1: 153,690,996 T98A probably null Het
Rhbdd1 A G 1: 82,370,381 N235D possibly damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Sgo2b A T 8: 63,926,947 D950E probably damaging Het
Slc1a5 T C 7: 16,795,853 V399A probably damaging Het
Spag16 A T 1: 69,853,328 Q89H probably damaging Het
Spta1 T C 1: 174,241,137 W2168R probably damaging Het
Taok1 T A 11: 77,549,438 K581M probably benign Het
Tns3 T C 11: 8,492,275 D696G probably damaging Het
Tspan8 C T 10: 115,835,282 R115* probably null Het
Txnrd1 A G 10: 82,885,280 E510G probably benign Het
Usp45 T C 4: 21,810,746 I314T probably damaging Het
Vmn2r15 T A 5: 109,293,446 H182L probably damaging Het
Vmn2r76 A C 7: 86,230,300 M264R probably benign Het
Other mutations in Lbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Lbp APN 2 158328412 missense probably damaging 1.00
IGL01885:Lbp APN 2 158324573 missense probably damaging 1.00
IGL02224:Lbp APN 2 158306749 missense probably damaging 1.00
R0144:Lbp UTSW 2 158319710 missense probably damaging 1.00
R0478:Lbp UTSW 2 158317528 splice site probably benign
R1479:Lbp UTSW 2 158319714 missense probably damaging 1.00
R1569:Lbp UTSW 2 158319687 missense probably damaging 1.00
R2061:Lbp UTSW 2 158324579 missense probably benign 0.28
R4854:Lbp UTSW 2 158327518 missense possibly damaging 0.58
R5027:Lbp UTSW 2 158308726 missense possibly damaging 0.61
R5749:Lbp UTSW 2 158319753 missense probably damaging 1.00
R5910:Lbp UTSW 2 158324557 missense probably benign 0.02
R6135:Lbp UTSW 2 158317549 missense probably benign 0.09
R6650:Lbp UTSW 2 158309667 missense probably benign 0.36
Z1176:Lbp UTSW 2 158325762 missense probably damaging 1.00
Z1177:Lbp UTSW 2 158320306 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 On2015-04-30