Incidental Mutation 'IGL02224:Lbp'
| ID |
285282 |
| 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)
|
| Stock # |
IGL02224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
158148413-158174772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 158148669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q61805 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
A |
13: 4,329,289 (GRCm39) |
T23S |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,726,616 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,810 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,760,682 (GRCm39) |
R1051C |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,110 (GRCm39) |
D309G |
probably benign |
Het |
| C130026L21Rik |
A |
G |
5: 111,730,291 (GRCm39) |
|
noncoding transcript |
Het |
| Cadm3 |
A |
G |
1: 173,165,628 (GRCm39) |
I344T |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,924,318 (GRCm39) |
T370A |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,741,534 (GRCm39) |
S2462T |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,937,332 (GRCm39) |
N739Y |
probably benign |
Het |
| Ensa |
T |
C |
3: 95,535,990 (GRCm39) |
S108P |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,545,281 (GRCm39) |
|
probably null |
Het |
| Fbp1 |
T |
A |
13: 63,035,821 (GRCm39) |
T13S |
probably damaging |
Het |
| Flrt2 |
C |
A |
12: 95,746,802 (GRCm39) |
T380K |
possibly damaging |
Het |
| Gpatch11 |
T |
C |
17: 79,148,522 (GRCm39) |
|
probably benign |
Het |
| Hagh |
A |
G |
17: 25,071,861 (GRCm39) |
D29G |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,600,831 (GRCm39) |
Q513R |
unknown |
Het |
| Hoxb8 |
T |
C |
11: 96,173,981 (GRCm39) |
S65P |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,169,271 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,595,822 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nfat5 |
T |
C |
8: 108,071,447 (GRCm39) |
V281A |
probably benign |
Het |
| Or10ag53 |
C |
T |
2: 87,082,821 (GRCm39) |
S180F |
probably benign |
Het |
| Or13c25 |
A |
T |
4: 52,911,392 (GRCm39) |
V134D |
probably damaging |
Het |
| Or4p20 |
C |
T |
2: 88,254,052 (GRCm39) |
|
probably null |
Het |
| Or5b106 |
T |
A |
19: 13,123,120 (GRCm39) |
K301M |
probably damaging |
Het |
| Or5w16 |
T |
A |
2: 87,576,757 (GRCm39) |
C72* |
probably null |
Het |
| Phf11b |
A |
T |
14: 59,563,515 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,962,575 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,549,064 (GRCm39) |
F66L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,538,459 (GRCm39) |
H108R |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,045,255 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
A |
G |
2: 128,676,127 (GRCm39) |
I297V |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,068 (GRCm39) |
R229G |
probably damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,174,960 (GRCm39) |
R524* |
probably null |
Het |
| Washc2 |
T |
A |
6: 116,197,530 (GRCm39) |
D254E |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp773 |
T |
C |
7: 7,135,975 (GRCm39) |
H207R |
probably benign |
Het |
|
| Other mutations in Lbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-04-16 |
Incidental Mutation