Incidental Mutation 'IGL02224:Lbp'
ID285282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lbp
Ensembl Gene ENSMUSG00000016024
Gene Namelipopolysaccharide binding protein
SynonymsBpifd2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02224
Quality Score
Status
Chromosome2
Chromosomal Location158306493-158332852 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 158306749 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 27 (N27S)
Ref Sequence ENSEMBL: ENSMUSP00000105117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016168] [ENSMUST00000109491]
Predicted Effect probably damaging
Transcript: ENSMUST00000016168
AA Change: N27S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016168
Gene: ENSMUSG00000016024
AA Change: N27S

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: ENSMUST00000109491
AA Change: N27S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105117
Gene: ENSMUSG00000016024
AA Change: N27S

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:LBP_BPI_CETP 38 123 1.8e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146600
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,279,290 T23S probably damaging Het
Alpk3 G A 7: 81,076,868 probably benign Het
Atp8b3 A G 10: 80,525,976 probably benign Het
Atr C T 9: 95,878,629 R1051C probably damaging Het
B4galt2 T C 4: 117,876,913 D309G probably benign Het
C130026L21Rik A G 5: 111,582,425 noncoding transcript Het
Cadm3 A G 1: 173,338,061 I344T possibly damaging Het
Cd101 T C 3: 101,017,002 T370A probably benign Het
Col6a5 A T 9: 105,864,335 S2462T probably damaging Het
Csf3r A T 4: 126,043,539 N739Y probably benign Het
Ensa T C 3: 95,628,679 S108P probably benign Het
Fancd2 T A 6: 113,568,320 probably null Het
Fbp1 T A 13: 62,888,007 T13S probably damaging Het
Flrt2 C A 12: 95,780,028 T380K possibly damaging Het
Gpatch11 T C 17: 78,841,093 probably benign Het
Hagh A G 17: 24,852,887 D29G probably damaging Het
Hmmr T C 11: 40,710,004 Q513R unknown Het
Hoxb8 T C 11: 96,283,155 S65P probably benign Het
Il4ra T C 7: 125,570,099 probably benign Het
Msh4 G A 3: 153,890,185 T76I possibly damaging Het
Nfat5 T C 8: 107,344,815 V281A probably benign Het
Olfr1115 C T 2: 87,252,477 S180F probably benign Het
Olfr1140 T A 2: 87,746,413 C72* probably null Het
Olfr1181 C T 2: 88,423,708 probably null Het
Olfr1459 T A 19: 13,145,756 K301M probably damaging Het
Olfr272 A T 4: 52,911,392 V134D probably damaging Het
Phf11b A T 14: 59,326,066 probably benign Het
Pik3c2a A G 7: 116,363,340 probably benign Het
Prdx1 T A 4: 116,691,867 F66L probably damaging Het
Prss39 A G 1: 34,499,378 H108R probably damaging Het
Spta1 C A 1: 174,217,689 probably benign Het
Tmem87b A G 2: 128,834,207 I297V possibly damaging Het
Vmn1r191 T C 13: 22,178,898 R229G probably damaging Het
Vmn2r113 A T 17: 22,955,986 R524* probably null Het
Washc2 T A 6: 116,220,569 D254E possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp773 T C 7: 7,132,976 H207R 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
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
R4058:Lbp UTSW 2 158324630 missense probably damaging 1.00
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
Posted On2015-04-16