Incidental Mutation 'R0478:Lbp'
ID 43189
Institutional Source Beutler Lab
Gene Symbol Lbp
Ensembl Gene ENSMUSG00000016024
Gene Name lipopolysaccharide binding protein
Synonyms Bpifd2
MMRRC Submission 038678-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0478 (G1)
Quality Score 221
Status Validated
Chromosome 2
Chromosomal Location 158148413-158174772 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 158159448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000016168]
AlphaFold Q61805
Predicted Effect probably benign
Transcript: ENSMUST00000016168
SMART Domains Protein: ENSMUSP00000016168
Gene: ENSMUSG00000016024

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: ENSMUST00000146600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152541
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,262,014 (GRCm39) noncoding transcript Het
4930556J24Rik T G 11: 3,926,259 (GRCm39) probably benign Het
Acnat1 T G 4: 49,450,901 (GRCm39) D70A probably damaging Het
Adnp2 A G 18: 80,172,549 (GRCm39) V620A probably benign Het
Aldoart1 T A 4: 72,770,580 (GRCm39) H21L probably benign Het
Birc2 A G 9: 7,860,348 (GRCm39) V290A probably damaging Het
Bpifb3 C T 2: 153,773,400 (GRCm39) probably benign Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Clmn A G 12: 104,751,750 (GRCm39) M235T probably damaging Het
Dmbt1 A G 7: 130,642,917 (GRCm39) E245G possibly damaging Het
Epgn G T 5: 91,178,987 (GRCm39) V36L probably benign Het
Ets2 C A 16: 95,517,306 (GRCm39) P346Q probably damaging Het
Fam222b T C 11: 78,044,682 (GRCm39) L81P probably damaging Het
Fancf A C 7: 51,511,440 (GRCm39) L188R probably damaging Het
Fibin T C 2: 110,193,079 (GRCm39) D21G possibly damaging Het
Fzd6 A G 15: 38,897,429 (GRCm39) probably null Het
Gbp4 T A 5: 105,267,299 (GRCm39) Q540L probably benign Het
Greb1l T A 18: 10,509,281 (GRCm39) L531Q probably damaging Het
Il5ra A G 6: 106,715,423 (GRCm39) V137A probably benign Het
Kif26a G A 12: 112,142,223 (GRCm39) A826T probably damaging Het
Kiz T C 2: 146,784,078 (GRCm39) V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 (GRCm39) G15D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Mmp25 T C 17: 23,851,756 (GRCm39) T318A probably benign Het
Mrpl50 A G 4: 49,514,513 (GRCm39) C53R probably damaging Het
Msl3l2 G C 10: 55,991,411 (GRCm39) E45D probably damaging Het
Nfxl1 A G 5: 72,681,988 (GRCm39) probably null Het
Noc3l A G 19: 38,798,450 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,370 (GRCm39) V287E probably damaging Het
Or1x6 T C 11: 50,939,539 (GRCm39) S202P probably benign Het
Pgm5 A T 19: 24,812,233 (GRCm39) S100T possibly damaging Het
Pi4ka C T 16: 17,127,175 (GRCm39) G1093S possibly damaging Het
Pitrm1 T A 13: 6,609,431 (GRCm39) S350T probably damaging Het
Ptk2b G T 14: 66,450,821 (GRCm39) N48K probably damaging Het
Septin3 T C 15: 82,175,007 (GRCm39) L172P probably damaging Het
Sirt3 A T 7: 140,458,027 (GRCm39) C41S Het
Sphkap C T 1: 83,256,432 (GRCm39) R152H probably damaging Het
St3gal1 T C 15: 66,985,579 (GRCm39) Y25C probably damaging Het
Tbc1d31 T C 15: 57,795,932 (GRCm39) F175S probably damaging Het
Tfdp2 T A 9: 96,172,636 (GRCm39) D43E probably benign Het
Tgm1 G A 14: 55,937,791 (GRCm39) Q773* probably null Het
Tmc3 A T 7: 83,271,360 (GRCm39) R837S possibly damaging Het
Unc13a A G 8: 72,103,792 (GRCm39) V880A possibly damaging Het
Vmn1r237 T A 17: 21,535,081 (GRCm39) V268E probably damaging Het
Zan C T 5: 137,398,788 (GRCm39) probably benign Het
Zfp760 G T 17: 21,940,995 (GRCm39) E57* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TCTCCTCAGACCCTGTTGGAATGC -3'
(R):5'- TTGACTATGTGCGGGACCTGGAAC -3'

Sequencing Primer
(F):5'- CAGACCCTGTTGGAATGCATATC -3'
(R):5'- GCCTATACTGTGTATCAACTGAGAGG -3'
Posted On 2013-05-23