Incidental Mutation 'P0015:Lrp1'
ID | 7552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrp1
|
Ensembl Gene |
ENSMUSG00000040249 |
Gene Name | low density lipoprotein receptor-related protein 1 |
Synonyms | A2mr, b2b1554Clo, CD91 |
MMRRC Submission |
038268-MU
|
Accession Numbers |
NCBI RefSeq: NM_008512.2; MGI:96828
|
Is this an essential gene? |
Essential (E-score: 1.000)
|
Stock # | P0015 (G1)
|
Quality Score | |
Status |
Validated
|
Chromosome | 10 |
Chromosomal Location | 127538161-127621148 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to T
at 127566663 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 2213
(I2213N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049149]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049149
AA Change: I2213N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044004 Gene: ENSMUSG00000040249 AA Change: I2213N
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
LDLa
|
27 |
67 |
1.03e-15 |
SMART |
LDLa
|
72 |
111 |
1.04e-11 |
SMART |
EGF
|
115 |
150 |
8.78e-2 |
SMART |
EGF_CA
|
151 |
190 |
4.49e-8 |
SMART |
low complexity region
|
222 |
232 |
N/A |
INTRINSIC |
LY
|
273 |
315 |
7.07e-6 |
SMART |
LY
|
316 |
359 |
2.31e-10 |
SMART |
LY
|
360 |
402 |
8.3e-12 |
SMART |
EGF
|
478 |
521 |
9.93e-1 |
SMART |
LY
|
552 |
594 |
8.84e-7 |
SMART |
LY
|
595 |
638 |
6.54e-10 |
SMART |
LY
|
641 |
690 |
2.5e-15 |
SMART |
LY
|
691 |
734 |
1.06e-9 |
SMART |
EGF
|
807 |
844 |
1.38e1 |
SMART |
LDLa
|
854 |
893 |
3.39e-16 |
SMART |
LDLa
|
895 |
934 |
1.73e-13 |
SMART |
LDLa
|
936 |
974 |
4.47e-16 |
SMART |
LDLa
|
976 |
1014 |
2.53e-15 |
SMART |
LDLa
|
1015 |
1054 |
2.95e-16 |
SMART |
LDLa
|
1062 |
1100 |
3.24e-13 |
SMART |
LDLa
|
1104 |
1143 |
2.97e-12 |
SMART |
LDLa
|
1145 |
1185 |
1.24e-9 |
SMART |
EGF
|
1185 |
1223 |
4.97e-1 |
SMART |
EGF
|
1227 |
1263 |
6.02e0 |
SMART |
LY
|
1290 |
1332 |
3.76e-1 |
SMART |
LY
|
1337 |
1379 |
8.56e-14 |
SMART |
LY
|
1380 |
1424 |
8.43e-13 |
SMART |
LY
|
1425 |
1469 |
3.05e-10 |
SMART |
LY
|
1471 |
1513 |
3.88e-3 |
SMART |
EGF
|
1540 |
1580 |
1.85e0 |
SMART |
LY
|
1606 |
1650 |
2.83e-5 |
SMART |
LY
|
1651 |
1695 |
2.01e-10 |
SMART |
LY
|
1698 |
1735 |
1.87e-5 |
SMART |
LY
|
1736 |
1777 |
3.54e-6 |
SMART |
LY
|
1778 |
1820 |
4.17e1 |
SMART |
EGF
|
1850 |
1888 |
1.24e-1 |
SMART |
LY
|
1915 |
1957 |
3.2e-4 |
SMART |
LY
|
1958 |
2000 |
2.33e-15 |
SMART |
LY
|
2001 |
2044 |
7.45e-14 |
SMART |
LY
|
2045 |
2087 |
3.87e-12 |
SMART |
LY
|
2089 |
2131 |
1.37e0 |
SMART |
EGF
|
2159 |
2196 |
1.66e1 |
SMART |
LY
|
2276 |
2318 |
5.57e-4 |
SMART |
LY
|
2324 |
2369 |
3.3e-6 |
SMART |
LY
|
2370 |
2412 |
3.93e-13 |
SMART |
LY
|
2413 |
2454 |
3.62e-3 |
SMART |
EGF_like
|
2482 |
2519 |
3.16e1 |
SMART |
LDLa
|
2524 |
2564 |
3.31e-10 |
SMART |
LDLa
|
2566 |
2603 |
7.21e-11 |
SMART |
LDLa
|
2605 |
2642 |
1.09e-10 |
SMART |
LDLa
|
2660 |
2691 |
6.05e-4 |
SMART |
LDLa
|
2696 |
2733 |
2.49e-14 |
SMART |
LDLa
|
2734 |
2772 |
4.65e-14 |
SMART |
LDLa
|
2774 |
2815 |
3.92e-12 |
SMART |
LDLa
|
2818 |
2856 |
1.51e-13 |
SMART |
LDLa
|
2858 |
2900 |
1.93e-11 |
SMART |
LDLa
|
2904 |
2942 |
1.73e-13 |
SMART |
EGF_CA
|
2941 |
2982 |
6.16e-6 |
SMART |
EGF_CA
|
2983 |
3023 |
2.66e-10 |
SMART |
LY
|
3050 |
3094 |
6.64e-11 |
SMART |
LY
|
3095 |
3137 |
7.17e-16 |
SMART |
LY
|
3138 |
3181 |
4.28e-14 |
SMART |
LY
|
3182 |
3224 |
8.11e-15 |
SMART |
LY
|
3225 |
3265 |
1.44e-6 |
SMART |
EGF
|
3294 |
3332 |
1.02e-2 |
SMART |
LDLa
|
3334 |
3372 |
2.25e-12 |
SMART |
LDLa
|
3374 |
3411 |
9.81e-13 |
SMART |
LDLa
|
3413 |
3451 |
9.81e-13 |
SMART |
LDLa
|
3453 |
3492 |
5.67e-18 |
SMART |
LDLa
|
3494 |
3534 |
7.15e-15 |
SMART |
LDLa
|
3536 |
3573 |
1.79e-15 |
SMART |
EGF_like
|
3575 |
3611 |
4.83e1 |
SMART |
LDLa
|
3575 |
3612 |
1.92e-15 |
SMART |
LDLa
|
3613 |
3650 |
1.18e-15 |
SMART |
LDLa
|
3654 |
3693 |
7.55e-14 |
SMART |
LDLa
|
3695 |
3734 |
1.14e-8 |
SMART |
LDLa
|
3741 |
3779 |
6.28e-11 |
SMART |
EGF
|
3785 |
3824 |
1.06e1 |
SMART |
EGF
|
3828 |
3862 |
1.51e0 |
SMART |
LY
|
3893 |
3935 |
9.43e0 |
SMART |
LY
|
3951 |
3993 |
1.23e-14 |
SMART |
LY
|
3994 |
4037 |
2.98e-13 |
SMART |
LY
|
4038 |
4080 |
4.28e-14 |
SMART |
EGF
|
4151 |
4184 |
3.76e-1 |
SMART |
low complexity region
|
4185 |
4198 |
N/A |
INTRINSIC |
EGF
|
4200 |
4233 |
3.82e-2 |
SMART |
EGF
|
4236 |
4269 |
4.03e-1 |
SMART |
EGF
|
4272 |
4305 |
5.2e-4 |
SMART |
EGF
|
4308 |
4341 |
1.22e0 |
SMART |
EGF_like
|
4344 |
4376 |
4.11e1 |
SMART |
EGF
|
4377 |
4410 |
5.12e-3 |
SMART |
transmembrane domain
|
4423 |
4445 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3787
|
Coding Region Coverage |
- 1x: 83.8%
- 3x: 77.7%
- 10x: 59.1%
- 20x: 39.9%
|
Validation Efficiency |
82% (537/655) |
MGI Phenotype |
Strain: 2178192
Lethality: E10-E13
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015] PHENOTYPE: Mice homozygous for a null allele exhibit lethality during late organogenesis. [provided by MGI curators]
|
Allele List at MGI |
All alleles(42) : Targeted(9) Gene trapped(33)
|
Other mutations in this stock |
Total: 5 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Fam151b |
C |
T |
13: 92,467,944 |
|
probably null |
Het |
Fam198b |
T |
C |
3: 79,936,608 |
L14S |
probably damaging |
Het |
Otop1 |
T |
C |
5: 38,294,559 |
|
probably benign |
Het |
Tnfsf14 |
T |
C |
17: 57,190,815 |
Y139C |
probably damaging |
Het |
Zfp143 |
A |
G |
7: 110,086,111 |
|
probably null |
Het |
|
Other mutations in Lrp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00793:Lrp1
|
APN |
10 |
127542205 |
missense |
possibly damaging |
0.89 |
IGL01065:Lrp1
|
APN |
10 |
127575038 |
missense |
probably benign |
0.10 |
IGL01121:Lrp1
|
APN |
10 |
127583853 |
nonsense |
probably null |
|
IGL01360:Lrp1
|
APN |
10 |
127545820 |
missense |
possibly damaging |
0.93 |
IGL01402:Lrp1
|
APN |
10 |
127595032 |
missense |
probably damaging |
1.00 |
IGL01404:Lrp1
|
APN |
10 |
127595032 |
missense |
probably damaging |
1.00 |
IGL01411:Lrp1
|
APN |
10 |
127581765 |
nonsense |
probably null |
|
IGL01469:Lrp1
|
APN |
10 |
127584414 |
missense |
probably damaging |
1.00 |
IGL01552:Lrp1
|
APN |
10 |
127588510 |
nonsense |
probably null |
|
IGL01682:Lrp1
|
APN |
10 |
127574978 |
missense |
probably benign |
0.00 |
IGL01760:Lrp1
|
APN |
10 |
127573501 |
missense |
probably benign |
0.00 |
IGL01918:Lrp1
|
APN |
10 |
127554589 |
missense |
probably damaging |
0.99 |
IGL01989:Lrp1
|
APN |
10 |
127578129 |
missense |
probably damaging |
1.00 |
IGL02105:Lrp1
|
APN |
10 |
127544579 |
missense |
probably damaging |
1.00 |
IGL02158:Lrp1
|
APN |
10 |
127554271 |
missense |
probably benign |
0.02 |
IGL02164:Lrp1
|
APN |
10 |
127563667 |
missense |
probably benign |
0.39 |
IGL02337:Lrp1
|
APN |
10 |
127576887 |
missense |
possibly damaging |
0.87 |
IGL02425:Lrp1
|
APN |
10 |
127571887 |
critical splice donor site |
probably null |
|
IGL02493:Lrp1
|
APN |
10 |
127581778 |
missense |
probably damaging |
0.99 |
IGL02563:Lrp1
|
APN |
10 |
127551686 |
missense |
probably damaging |
1.00 |
IGL02590:Lrp1
|
APN |
10 |
127552791 |
missense |
probably damaging |
1.00 |
IGL02624:Lrp1
|
APN |
10 |
127572422 |
missense |
probably damaging |
0.98 |
IGL02625:Lrp1
|
APN |
10 |
127574486 |
missense |
probably damaging |
1.00 |
IGL02825:Lrp1
|
APN |
10 |
127542605 |
missense |
probably damaging |
1.00 |
IGL02880:Lrp1
|
APN |
10 |
127540222 |
missense |
probably benign |
0.12 |
IGL02900:Lrp1
|
APN |
10 |
127576647 |
splice site |
probably benign |
|
IGL02956:Lrp1
|
APN |
10 |
127544559 |
missense |
probably benign |
0.00 |
IGL02974:Lrp1
|
APN |
10 |
127555016 |
missense |
probably damaging |
0.99 |
IGL02983:Lrp1
|
APN |
10 |
127550199 |
missense |
probably damaging |
1.00 |
IGL03002:Lrp1
|
APN |
10 |
127589636 |
missense |
probably damaging |
1.00 |
IGL03091:Lrp1
|
APN |
10 |
127559124 |
missense |
probably benign |
0.30 |
IGL03109:Lrp1
|
APN |
10 |
127566645 |
missense |
probably benign |
|
IGL03194:Lrp1
|
APN |
10 |
127568685 |
missense |
probably damaging |
1.00 |
IGL03232:Lrp1
|
APN |
10 |
127539376 |
missense |
probably damaging |
1.00 |
extremis
|
UTSW |
10 |
127556988 |
missense |
probably benign |
0.00 |
Jockey
|
UTSW |
10 |
127560136 |
missense |
probably damaging |
1.00 |
peripheral
|
UTSW |
10 |
127610381 |
missense |
probably damaging |
1.00 |
tangential
|
UTSW |
10 |
127593848 |
missense |
probably damaging |
0.99 |
PIT4519001:Lrp1
|
UTSW |
10 |
127607974 |
missense |
possibly damaging |
0.91 |
PIT4520001:Lrp1
|
UTSW |
10 |
127607974 |
missense |
possibly damaging |
0.91 |
R0004:Lrp1
|
UTSW |
10 |
127541825 |
splice site |
probably null |
|
R0034:Lrp1
|
UTSW |
10 |
127545651 |
missense |
probably benign |
0.42 |
R0091:Lrp1
|
UTSW |
10 |
127540979 |
missense |
probably damaging |
1.00 |
R0098:Lrp1
|
UTSW |
10 |
127552738 |
missense |
probably benign |
|
R0098:Lrp1
|
UTSW |
10 |
127552738 |
missense |
probably benign |
|
R0143:Lrp1
|
UTSW |
10 |
127593942 |
missense |
probably damaging |
1.00 |
R0372:Lrp1
|
UTSW |
10 |
127592136 |
missense |
probably damaging |
1.00 |
R0379:Lrp1
|
UTSW |
10 |
127594969 |
missense |
probably damaging |
1.00 |
R0445:Lrp1
|
UTSW |
10 |
127590636 |
nonsense |
probably null |
|
R0529:Lrp1
|
UTSW |
10 |
127541594 |
splice site |
probably null |
|
R0551:Lrp1
|
UTSW |
10 |
127571958 |
missense |
probably benign |
|
R0570:Lrp1
|
UTSW |
10 |
127555009 |
nonsense |
probably null |
|
R0600:Lrp1
|
UTSW |
10 |
127567383 |
missense |
probably benign |
0.00 |
R0626:Lrp1
|
UTSW |
10 |
127567364 |
missense |
probably damaging |
1.00 |
R0647:Lrp1
|
UTSW |
10 |
127571477 |
missense |
probably damaging |
1.00 |
R0680:Lrp1
|
UTSW |
10 |
127589661 |
missense |
probably damaging |
1.00 |
R0792:Lrp1
|
UTSW |
10 |
127567364 |
missense |
probably damaging |
1.00 |
R0792:Lrp1
|
UTSW |
10 |
127575286 |
missense |
probably benign |
0.04 |
R0848:Lrp1
|
UTSW |
10 |
127553362 |
splice site |
probably null |
|
R0866:Lrp1
|
UTSW |
10 |
127539278 |
missense |
probably damaging |
1.00 |
R0918:Lrp1
|
UTSW |
10 |
127593965 |
missense |
probably damaging |
1.00 |
R1076:Lrp1
|
UTSW |
10 |
127563797 |
splice site |
probably benign |
|
R1107:Lrp1
|
UTSW |
10 |
127557435 |
missense |
probably damaging |
1.00 |
R1346:Lrp1
|
UTSW |
10 |
127605866 |
missense |
probably damaging |
1.00 |
R1403:Lrp1
|
UTSW |
10 |
127581891 |
critical splice acceptor site |
probably null |
|
R1403:Lrp1
|
UTSW |
10 |
127581891 |
critical splice acceptor site |
probably null |
|
R1496:Lrp1
|
UTSW |
10 |
127539011 |
missense |
probably damaging |
1.00 |
R1522:Lrp1
|
UTSW |
10 |
127567364 |
missense |
probably damaging |
1.00 |
R1522:Lrp1
|
UTSW |
10 |
127575286 |
missense |
probably benign |
0.04 |
R1525:Lrp1
|
UTSW |
10 |
127539529 |
missense |
probably damaging |
1.00 |
R1539:Lrp1
|
UTSW |
10 |
127584381 |
splice site |
probably null |
|
R1589:Lrp1
|
UTSW |
10 |
127605606 |
missense |
probably benign |
0.00 |
R1591:Lrp1
|
UTSW |
10 |
127605606 |
missense |
probably benign |
0.00 |
R1663:Lrp1
|
UTSW |
10 |
127556921 |
missense |
probably damaging |
1.00 |
R1682:Lrp1
|
UTSW |
10 |
127574332 |
missense |
probably damaging |
1.00 |
R1717:Lrp1
|
UTSW |
10 |
127556269 |
missense |
possibly damaging |
0.59 |
R1717:Lrp1
|
UTSW |
10 |
127563665 |
missense |
probably damaging |
1.00 |
R1758:Lrp1
|
UTSW |
10 |
127588584 |
missense |
possibly damaging |
0.76 |
R1826:Lrp1
|
UTSW |
10 |
127553707 |
missense |
probably damaging |
1.00 |
R1842:Lrp1
|
UTSW |
10 |
127573468 |
missense |
possibly damaging |
0.93 |
R1844:Lrp1
|
UTSW |
10 |
127595283 |
critical splice donor site |
probably null |
|
R1845:Lrp1
|
UTSW |
10 |
127578673 |
missense |
probably damaging |
1.00 |
R1896:Lrp1
|
UTSW |
10 |
127559998 |
missense |
possibly damaging |
0.64 |
R1952:Lrp1
|
UTSW |
10 |
127567431 |
missense |
probably damaging |
1.00 |
R2009:Lrp1
|
UTSW |
10 |
127544516 |
missense |
probably damaging |
1.00 |
R2015:Lrp1
|
UTSW |
10 |
127540694 |
missense |
probably benign |
0.00 |
R2116:Lrp1
|
UTSW |
10 |
127576493 |
nonsense |
probably null |
|
R2161:Lrp1
|
UTSW |
10 |
127555738 |
missense |
probably damaging |
1.00 |
R2199:Lrp1
|
UTSW |
10 |
127546840 |
missense |
probably damaging |
1.00 |
R2213:Lrp1
|
UTSW |
10 |
127540702 |
missense |
probably damaging |
1.00 |
R2300:Lrp1
|
UTSW |
10 |
127556915 |
nonsense |
probably null |
|
R2324:Lrp1
|
UTSW |
10 |
127566586 |
missense |
possibly damaging |
0.92 |
R2849:Lrp1
|
UTSW |
10 |
127542296 |
missense |
probably damaging |
1.00 |
R2926:Lrp1
|
UTSW |
10 |
127588113 |
missense |
probably damaging |
0.98 |
R2993:Lrp1
|
UTSW |
10 |
127610381 |
missense |
probably damaging |
1.00 |
R3522:Lrp1
|
UTSW |
10 |
127553555 |
missense |
probably damaging |
1.00 |
R3702:Lrp1
|
UTSW |
10 |
127595103 |
missense |
probably damaging |
1.00 |
R3789:Lrp1
|
UTSW |
10 |
127571969 |
missense |
possibly damaging |
0.94 |
R3898:Lrp1
|
UTSW |
10 |
127592100 |
nonsense |
probably null |
|
R3941:Lrp1
|
UTSW |
10 |
127553396 |
missense |
probably damaging |
1.00 |
R3958:Lrp1
|
UTSW |
10 |
127571958 |
missense |
probably benign |
|
R4369:Lrp1
|
UTSW |
10 |
127550286 |
missense |
possibly damaging |
0.87 |
R4510:Lrp1
|
UTSW |
10 |
127593848 |
missense |
probably damaging |
0.99 |
R4511:Lrp1
|
UTSW |
10 |
127593848 |
missense |
probably damaging |
0.99 |
R4576:Lrp1
|
UTSW |
10 |
127540188 |
small deletion |
probably benign |
|
R4583:Lrp1
|
UTSW |
10 |
127541372 |
missense |
probably benign |
0.00 |
R4662:Lrp1
|
UTSW |
10 |
127552185 |
nonsense |
probably null |
|
R4721:Lrp1
|
UTSW |
10 |
127555059 |
missense |
possibly damaging |
0.58 |
R4728:Lrp1
|
UTSW |
10 |
127563737 |
missense |
probably damaging |
1.00 |
R4745:Lrp1
|
UTSW |
10 |
127549944 |
missense |
probably benign |
0.20 |
R4785:Lrp1
|
UTSW |
10 |
127558133 |
missense |
probably benign |
0.12 |
R4841:Lrp1
|
UTSW |
10 |
127583936 |
missense |
probably damaging |
1.00 |
R4842:Lrp1
|
UTSW |
10 |
127583936 |
missense |
probably damaging |
1.00 |
R4855:Lrp1
|
UTSW |
10 |
127610442 |
missense |
probably benign |
0.03 |
R4860:Lrp1
|
UTSW |
10 |
127553824 |
missense |
probably damaging |
1.00 |
R4860:Lrp1
|
UTSW |
10 |
127553824 |
missense |
probably damaging |
1.00 |
R4891:Lrp1
|
UTSW |
10 |
127541752 |
missense |
probably damaging |
1.00 |
R4925:Lrp1
|
UTSW |
10 |
127575075 |
nonsense |
probably null |
|
R4970:Lrp1
|
UTSW |
10 |
127539520 |
missense |
probably benign |
0.11 |
R4999:Lrp1
|
UTSW |
10 |
127553779 |
missense |
probably damaging |
1.00 |
R5044:Lrp1
|
UTSW |
10 |
127567495 |
missense |
probably damaging |
1.00 |
R5127:Lrp1
|
UTSW |
10 |
127539634 |
intron |
probably benign |
|
R5188:Lrp1
|
UTSW |
10 |
127607952 |
missense |
probably damaging |
1.00 |
R5218:Lrp1
|
UTSW |
10 |
127548619 |
missense |
probably damaging |
1.00 |
R5225:Lrp1
|
UTSW |
10 |
127556096 |
missense |
probably benign |
0.04 |
R5291:Lrp1
|
UTSW |
10 |
127593878 |
missense |
probably damaging |
1.00 |
R5386:Lrp1
|
UTSW |
10 |
127592114 |
missense |
probably damaging |
1.00 |
R5395:Lrp1
|
UTSW |
10 |
127595297 |
missense |
probably damaging |
1.00 |
R5413:Lrp1
|
UTSW |
10 |
127588067 |
critical splice donor site |
probably null |
|
R5430:Lrp1
|
UTSW |
10 |
127541061 |
missense |
probably damaging |
0.99 |
R5499:Lrp1
|
UTSW |
10 |
127572944 |
missense |
possibly damaging |
0.58 |
R5526:Lrp1
|
UTSW |
10 |
127555724 |
missense |
probably benign |
0.37 |
R5580:Lrp1
|
UTSW |
10 |
127588520 |
missense |
probably benign |
|
R5583:Lrp1
|
UTSW |
10 |
127588463 |
missense |
probably benign |
0.08 |
R5599:Lrp1
|
UTSW |
10 |
127593869 |
missense |
probably damaging |
1.00 |
R5639:Lrp1
|
UTSW |
10 |
127593839 |
missense |
probably damaging |
0.99 |
R5677:Lrp1
|
UTSW |
10 |
127574429 |
missense |
probably damaging |
1.00 |
R5730:Lrp1
|
UTSW |
10 |
127583834 |
missense |
probably benign |
0.00 |
R5742:Lrp1
|
UTSW |
10 |
127548347 |
missense |
probably damaging |
0.98 |
R5764:Lrp1
|
UTSW |
10 |
127595318 |
missense |
probably benign |
0.41 |
R5864:Lrp1
|
UTSW |
10 |
127567505 |
missense |
possibly damaging |
0.58 |
R5937:Lrp1
|
UTSW |
10 |
127583876 |
missense |
possibly damaging |
0.93 |
R5947:Lrp1
|
UTSW |
10 |
127589554 |
critical splice donor site |
probably null |
|
R5976:Lrp1
|
UTSW |
10 |
127583901 |
missense |
probably damaging |
1.00 |
R6021:Lrp1
|
UTSW |
10 |
127578014 |
missense |
probably damaging |
1.00 |
R6026:Lrp1
|
UTSW |
10 |
127573403 |
missense |
probably damaging |
1.00 |
R6045:Lrp1
|
UTSW |
10 |
127566600 |
missense |
probably damaging |
0.98 |
R6057:Lrp1
|
UTSW |
10 |
127567490 |
missense |
probably damaging |
1.00 |
R6084:Lrp1
|
UTSW |
10 |
127560553 |
missense |
probably benign |
0.09 |
R6131:Lrp1
|
UTSW |
10 |
127560157 |
missense |
probably benign |
|
R6235:Lrp1
|
UTSW |
10 |
127588177 |
missense |
probably damaging |
1.00 |
R6280:Lrp1
|
UTSW |
10 |
127589584 |
missense |
probably benign |
0.04 |
R6307:Lrp1
|
UTSW |
10 |
127592075 |
missense |
probably damaging |
1.00 |
R6532:Lrp1
|
UTSW |
10 |
127541682 |
missense |
probably damaging |
1.00 |
R6532:Lrp1
|
UTSW |
10 |
127549407 |
missense |
probably damaging |
1.00 |
R6536:Lrp1
|
UTSW |
10 |
127558068 |
splice site |
probably null |
|
R6605:Lrp1
|
UTSW |
10 |
127560136 |
missense |
probably damaging |
1.00 |
R6607:Lrp1
|
UTSW |
10 |
127560136 |
missense |
probably damaging |
1.00 |
R6631:Lrp1
|
UTSW |
10 |
127574332 |
missense |
probably damaging |
1.00 |
R6676:Lrp1
|
UTSW |
10 |
127560136 |
missense |
probably damaging |
1.00 |
R6678:Lrp1
|
UTSW |
10 |
127560136 |
missense |
probably damaging |
1.00 |
R6809:Lrp1
|
UTSW |
10 |
127555056 |
missense |
probably benign |
0.04 |
R6884:Lrp1
|
UTSW |
10 |
127559117 |
missense |
probably benign |
0.00 |
R6925:Lrp1
|
UTSW |
10 |
127556988 |
missense |
probably benign |
0.00 |
R6987:Lrp1
|
UTSW |
10 |
127575005 |
missense |
probably damaging |
1.00 |
R7016:Lrp1
|
UTSW |
10 |
127559967 |
critical splice donor site |
probably null |
|
R7030:Lrp1
|
UTSW |
10 |
127552876 |
missense |
probably damaging |
0.97 |
R7053:Lrp1
|
UTSW |
10 |
127541094 |
missense |
probably damaging |
1.00 |
R7076:Lrp1
|
UTSW |
10 |
127550183 |
critical splice donor site |
probably null |
|
R7136:Lrp1
|
UTSW |
10 |
127558622 |
missense |
probably damaging |
1.00 |
R7180:Lrp1
|
UTSW |
10 |
127556965 |
missense |
probably damaging |
1.00 |
R7199:Lrp1
|
UTSW |
10 |
127573456 |
missense |
probably damaging |
0.99 |
R7219:Lrp1
|
UTSW |
10 |
127557228 |
missense |
probably benign |
0.40 |
R7233:Lrp1
|
UTSW |
10 |
127595061 |
missense |
probably damaging |
1.00 |
R7251:Lrp1
|
UTSW |
10 |
127572554 |
missense |
probably damaging |
1.00 |
R7264:Lrp1
|
UTSW |
10 |
127592093 |
missense |
probably damaging |
1.00 |
R7302:Lrp1
|
UTSW |
10 |
127538987 |
missense |
probably benign |
0.01 |
R7313:Lrp1
|
UTSW |
10 |
127553468 |
missense |
probably damaging |
1.00 |
R7322:Lrp1
|
UTSW |
10 |
127545564 |
missense |
probably benign |
0.24 |
R7354:Lrp1
|
UTSW |
10 |
127571408 |
missense |
probably damaging |
1.00 |
R7375:Lrp1
|
UTSW |
10 |
127539348 |
missense |
probably damaging |
1.00 |
R7388:Lrp1
|
UTSW |
10 |
127583897 |
nonsense |
probably null |
|
R7404:Lrp1
|
UTSW |
10 |
127582708 |
missense |
|
|
R7405:Lrp1
|
UTSW |
10 |
127581751 |
missense |
possibly damaging |
0.93 |
R7477:Lrp1
|
UTSW |
10 |
127568920 |
missense |
probably damaging |
1.00 |
R7555:Lrp1
|
UTSW |
10 |
127546862 |
missense |
probably damaging |
1.00 |
R7600:Lrp1
|
UTSW |
10 |
127555706 |
missense |
probably benign |
|
R7678:Lrp1
|
UTSW |
10 |
127574053 |
missense |
probably damaging |
1.00 |
R7679:Lrp1
|
UTSW |
10 |
127588428 |
nonsense |
probably null |
|
R7951:Lrp1
|
UTSW |
10 |
127539064 |
nonsense |
probably null |
|
R7964:Lrp1
|
UTSW |
10 |
127575044 |
missense |
possibly damaging |
0.94 |
R8006:Lrp1
|
UTSW |
10 |
127589619 |
missense |
probably damaging |
1.00 |
R8021:Lrp1
|
UTSW |
10 |
127548346 |
missense |
possibly damaging |
0.92 |
R8098:Lrp1
|
UTSW |
10 |
127574455 |
missense |
possibly damaging |
0.78 |
R8112:Lrp1
|
UTSW |
10 |
127605846 |
missense |
probably damaging |
1.00 |
R8210:Lrp1
|
UTSW |
10 |
127576485 |
missense |
probably damaging |
1.00 |
R8249:Lrp1
|
UTSW |
10 |
127605543 |
missense |
probably benign |
|
R8291:Lrp1
|
UTSW |
10 |
127589703 |
missense |
probably damaging |
1.00 |
R8332:Lrp1
|
UTSW |
10 |
127571936 |
missense |
probably damaging |
1.00 |
R8435:Lrp1
|
UTSW |
10 |
127556330 |
missense |
probably damaging |
0.97 |
R8467:Lrp1
|
UTSW |
10 |
127558650 |
missense |
probably damaging |
1.00 |
R8468:Lrp1
|
UTSW |
10 |
127558650 |
missense |
probably damaging |
1.00 |
R8474:Lrp1
|
UTSW |
10 |
127539703 |
missense |
probably damaging |
1.00 |
R8481:Lrp1
|
UTSW |
10 |
127568910 |
missense |
probably damaging |
1.00 |
R8483:Lrp1
|
UTSW |
10 |
127558650 |
missense |
probably damaging |
1.00 |
R8485:Lrp1
|
UTSW |
10 |
127558650 |
missense |
probably damaging |
1.00 |
R8488:Lrp1
|
UTSW |
10 |
127560487 |
missense |
probably damaging |
1.00 |
V3553:Lrp1
|
UTSW |
10 |
127571442 |
missense |
probably damaging |
1.00 |
Y5406:Lrp1
|
UTSW |
10 |
127554283 |
missense |
probably damaging |
1.00 |
Z1088:Lrp1
|
UTSW |
10 |
127584379 |
missense |
probably damaging |
1.00 |
Z1176:Lrp1
|
UTSW |
10 |
127554962 |
missense |
probably damaging |
1.00 |
|
Protein Function and Prediction |
Low-density lipoprotein (LDL) receptor related protein (LRP) is a endocytic receptor that recognizes over 30 ligands including lipoproteins, proteases, proteinase inhibitor complexes, matrix proteins, bacterial toxins, viruses, intracellular proteins and growth factors [reviewed in (1)]. LRP is essential to several signal transduction pathways in cellular processes (see (1) for an in-depth review) such as in protection of the vasculature (2), regulation of cell migration (3;4), and maintaining the integrity of the blood-brain barrier (5). Ligands recognized by Lrp include those involved in lipoprotein metabolism, proteases and protease inhibitor complexes, matrix proteins, and growth factors [reviewed in (1)].
|
Expression/Localization |
Examination of Lrp1 expression in mouse tissues found that many tissues had detectable amounts (e.g., spleen, thymus, heart, kidney, and bone); the highest expression was found in the liver, lung, brain, intestine, and muscle (6).
|
Background |
Lrp1tm1Her/tm1Her; MGI:2178192
involves: 129S7/SvEvBrd
Homozygous animals exhibit complete embryonic lethality by E13.5, internal hemorrhage, and embryonic growth retardation (7).
|
References |
2. Boucher, P., Gotthardt, M., Li, W. P., Anderson, R. G., and Herz, J. (2003) LRP: Role in Vascular Wall Integrity and Protection from Atherosclerosis. Science. 300, 329-332.
5. Yepes, M., Sandkvist, M., Moore, E. G., Bugge, T. H., Strickland, D. K., and Lawrence, D. A. (2003) Tissue-Type Plasminogen Activator Induces Opening of the Blood-Brain Barrier Via the LDL Receptor-Related Protein. J Clin Invest. 112, 1533-1540.
6. Herz, J., Hamann, U., Rogne, S., Myklebost, O., Gausepohl, H., and Stanley, K. K. (1988) Surface Location and High Affinity for Calcium of a 500-Kd Liver Membrane Protein Closely Related to the LDL-Receptor Suggest a Physiological Role as Lipoprotein Receptor. EMBO J. 7, 4119-4127.
|
Posted On | 2012-10-04 |
Science Writer | Anne Murray |