Incidental Mutation 'R1479:Lbp'
ID 164177
Institutional Source Beutler Lab
Gene Symbol Lbp
Ensembl Gene ENSMUSG00000016024
Gene Name lipopolysaccharide binding protein
Synonyms Bpifd2
MMRRC Submission 039532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1479 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 158148413-158174772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158161634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 232 (L232S)
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: L232S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016168
Gene: ENSMUSG00000016024
AA Change: L232S

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 damaging
Transcript: ENSMUST00000129811
AA Change: L39S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118297
Gene: ENSMUSG00000016024
AA Change: L39S

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
Meta Mutation Damage Score 0.9303 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (81/84)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik T A 9: 50,652,601 (GRCm39) T58S possibly damaging Het
Alox12e A G 11: 70,211,608 (GRCm39) V252A probably benign Het
Anks6 T C 4: 47,044,874 (GRCm39) D344G probably damaging Het
Atg14 A T 14: 47,784,696 (GRCm39) probably null Het
Bcr G T 10: 74,896,957 (GRCm39) E34* probably null Het
Birc6 C T 17: 74,941,848 (GRCm39) T2728M probably damaging Het
Bmp2k T A 5: 97,201,059 (GRCm39) N326K probably benign Het
Brme1 C A 8: 84,889,026 (GRCm39) T123K possibly damaging Het
Ccdc188 A C 16: 18,037,154 (GRCm39) T242P possibly damaging Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdin1 T A 2: 115,469,494 (GRCm39) N74K probably benign Het
Chsy3 A T 18: 59,541,985 (GRCm39) E374D probably benign Het
Clca4b A T 3: 144,621,229 (GRCm39) V615E probably damaging Het
Clcnka C A 4: 141,116,758 (GRCm39) A498S possibly damaging Het
Csmd3 A G 15: 47,721,282 (GRCm39) C1450R probably damaging Het
Cul7 C A 17: 46,962,673 (GRCm39) D101E probably damaging Het
Cyp27b1 G A 10: 126,887,580 (GRCm39) probably null Het
Cyp2d22 A G 15: 82,256,137 (GRCm39) S404P probably damaging Het
Dclk3 G A 9: 111,297,614 (GRCm39) S386N probably benign Het
Dnah10 G A 5: 124,854,953 (GRCm39) D1953N possibly damaging Het
Dst T A 1: 34,303,596 (GRCm39) probably null Het
Egfem1 A G 3: 29,711,314 (GRCm39) N241D probably damaging Het
Entpd7 T C 19: 43,710,279 (GRCm39) F312S probably damaging Het
Esp34 T A 17: 38,865,219 (GRCm39) probably benign Het
Foxd2 T A 4: 114,765,115 (GRCm39) T302S unknown Het
Fzd6 A T 15: 38,894,394 (GRCm39) N187Y probably damaging Het
Gbp9 C T 5: 105,241,930 (GRCm39) probably benign Het
Gna14 T C 19: 16,511,133 (GRCm39) S61P possibly damaging Het
Grap A T 11: 61,551,124 (GRCm39) Y52F probably benign Het
H2-T3 T C 17: 36,500,320 (GRCm39) Y125C probably damaging Het
Hax1 C A 3: 89,903,164 (GRCm39) E212D probably damaging Het
Hecw1 A C 13: 14,491,077 (GRCm39) S638R probably benign Het
Hira A T 16: 18,715,219 (GRCm39) K39M probably damaging Het
Hoxa2 T A 6: 52,140,320 (GRCm39) D222V probably damaging Het
Hycc2 T A 1: 58,591,427 (GRCm39) R91* probably null Het
Jph2 C T 2: 163,181,191 (GRCm39) V658M possibly damaging Het
Kansl1 A T 11: 104,233,242 (GRCm39) S762T probably damaging Het
Kat6b T A 14: 21,669,024 (GRCm39) C267S probably benign Het
Klk6 A G 7: 43,481,058 (GRCm39) N250S probably benign Het
Lcn9 A T 2: 25,713,715 (GRCm39) probably benign Het
Lcp2 A G 11: 34,025,068 (GRCm39) H213R probably benign Het
Lrrc9 A T 12: 72,507,599 (GRCm39) K367* probably null Het
Lyst A G 13: 13,809,067 (GRCm39) I246V probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mst1r T C 9: 107,790,544 (GRCm39) probably benign Het
Myo18a A G 11: 77,733,020 (GRCm39) E909G probably benign Het
Nipbl A T 15: 8,379,773 (GRCm39) D1006E probably benign Het
Or4k5 C A 14: 50,386,245 (GRCm39) V29F probably benign Het
Or5d37 A G 2: 87,923,630 (GRCm39) F217L probably benign Het
Or8d1b A T 9: 38,887,058 (GRCm39) I29F probably benign Het
Otog A G 7: 45,945,402 (GRCm39) I2220V possibly damaging Het
Pcx T A 19: 4,652,052 (GRCm39) I99N probably damaging Het
Pi4ka C T 16: 17,191,264 (GRCm39) G211D probably benign Het
Pp2d1 T C 17: 53,814,883 (GRCm39) S614G probably benign Het
Prdx6 G A 1: 161,071,833 (GRCm39) A111V probably damaging Het
Prorp T A 12: 55,426,172 (GRCm39) D138E probably damaging Het
Prss51 G A 14: 64,333,619 (GRCm39) probably null Het
Psmd6 C T 14: 14,116,819 (GRCm38) probably benign Het
Pten T A 19: 32,797,250 (GRCm39) L345Q probably damaging Het
Qrich2 T G 11: 116,332,311 (GRCm39) H2295P probably benign Het
Rgs11 T C 17: 26,427,257 (GRCm39) probably null Het
Rgs6 A G 12: 83,163,018 (GRCm39) E408G probably damaging Het
Septin4 G T 11: 87,458,244 (GRCm39) R206L probably damaging Het
Slc38a7 T C 8: 96,575,122 (GRCm39) T53A probably benign Het
Spata31g1 A C 4: 42,972,543 (GRCm39) K625N possibly damaging Het
Sptbn1 A G 11: 30,063,909 (GRCm39) C1957R probably damaging Het
Sumf1 T C 6: 108,153,019 (GRCm39) Y123C probably damaging Het
Tnrc6b T A 15: 80,771,233 (GRCm39) probably null Het
Ttc21a C A 9: 119,786,013 (GRCm39) D670E probably benign Het
Ttn A G 2: 76,574,855 (GRCm39) V25346A probably damaging Het
Ubr4 A G 4: 139,153,151 (GRCm39) T2070A possibly damaging Het
Vmn2r57 C A 7: 41,077,254 (GRCm39) W304L possibly damaging Het
Vps13a T C 19: 16,727,478 (GRCm39) probably benign Het
Zfp647 A G 15: 76,795,403 (GRCm39) V419A possibly damaging 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
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'- CCCCAGGTGGAGGCTCTTTAGT -3'
(R):5'- CTCAGGTAGGCTCATGGTCGGA -3'

Sequencing Primer
(F):5'- tctttagtgggcagtaagcg -3'
(R):5'- ATAGAACACTCTGTGTGACTCC -3'
Posted On 2014-03-28