Incidental Mutation 'R7448:Lrp5'
ID 577533
Institutional Source Beutler Lab
Gene Symbol Lrp5
Ensembl Gene ENSMUSG00000024913
Gene Name low density lipoprotein receptor-related protein 5
Synonyms LRP7, LR3
MMRRC Submission 045523-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R7448 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 3634828-3736564 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3699439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 282 (D282G)
Ref Sequence ENSEMBL: ENSMUSP00000025856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025856] [ENSMUST00000176867] [ENSMUST00000177330]
AlphaFold Q91VN0
Predicted Effect probably benign
Transcript: ENSMUST00000025856
AA Change: D282G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000025856
Gene: ENSMUSG00000024913
AA Change: D282G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
LY 54 96 1.26e0 SMART
LY 99 141 2.11e-13 SMART
LY 142 185 1.32e-14 SMART
LY 186 228 1.6e-13 SMART
LY 229 270 4e-5 SMART
EGF 297 336 1.01e-1 SMART
LY 364 406 5.15e-8 SMART
LY 407 449 4.12e-16 SMART
LY 450 493 7.68e-16 SMART
LY 494 536 6.24e-16 SMART
LY 537 577 3.73e-5 SMART
EGF 603 640 2.48e-1 SMART
LY 666 708 5.92e-8 SMART
LY 709 751 5.65e-14 SMART
LY 752 795 3.81e-11 SMART
LY 796 837 3.54e-6 SMART
LY 838 877 1.33e-1 SMART
EGF 904 941 1.22e0 SMART
LY 968 1009 4.39e-2 SMART
LY 1015 1057 1.81e0 SMART
LY 1058 1102 9.47e-7 SMART
LY 1103 1145 6.91e-9 SMART
LY 1146 1186 1.53e0 SMART
EGF 1215 1253 2.85e-1 SMART
LDLa 1257 1296 1.23e-13 SMART
LDLa 1297 1333 3.26e-9 SMART
LDLa 1334 1371 1.31e-13 SMART
transmembrane domain 1384 1406 N/A INTRINSIC
low complexity region 1494 1503 N/A INTRINSIC
low complexity region 1571 1578 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176867
AA Change: D282G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135654
Gene: ENSMUSG00000024913
AA Change: D282G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
LY 54 96 1.26e0 SMART
LY 99 141 2.11e-13 SMART
LY 142 185 1.32e-14 SMART
LY 186 228 1.6e-13 SMART
LY 229 270 4e-5 SMART
EGF 297 336 1.01e-1 SMART
LY 364 406 5.15e-8 SMART
LY 407 449 4.12e-16 SMART
LY 450 493 7.68e-16 SMART
LY 494 536 6.24e-16 SMART
LY 537 577 3.73e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177330
SMART Domains Protein: ENSMUSP00000134983
Gene: ENSMUSG00000024913

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
LY 54 96 1.26e0 SMART
LY 99 141 2.11e-13 SMART
LY 142 185 1.32e-14 SMART
LY 186 228 1.6e-13 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (117/117)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutants show variable bone loss, decreased osteoblast proliferation, impaired glucose tolerance, increased plasma cholesterol on high-fat diet and persistent embryonic eye vascularization, depending on allelic combination and strain background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T C 2: 155,360,186 (GRCm39) S54P probably damaging Het
Ahnak2 T C 12: 112,746,605 (GRCm39) K1242E Het
Alpi T A 1: 87,029,257 (GRCm39) M1L possibly damaging Het
Atp2c1 C T 9: 105,329,982 (GRCm39) A283T probably damaging Het
Atp8b5 T G 4: 43,366,021 (GRCm39) M764R probably benign Het
B4galnt2 T A 11: 95,760,193 (GRCm39) H278L probably damaging Het
Bcl9l G T 9: 44,420,634 (GRCm39) A1347S probably benign Het
Bicd2 A G 13: 49,533,427 (GRCm39) E671G probably damaging Het
Bmp3 A T 5: 99,020,077 (GRCm39) I167F probably damaging Het
Bpifb5 T A 2: 154,072,105 (GRCm39) C271S possibly damaging Het
Camsap2 T A 1: 136,198,644 (GRCm39) H793L Het
Casp8ap2 T A 4: 32,643,974 (GRCm39) S1016T possibly damaging Het
Castor1 A G 11: 4,171,897 (GRCm39) S325G not run Het
Ccdc134 T A 15: 82,025,149 (GRCm39) I216N possibly damaging Het
Ccdc63 G T 5: 122,246,245 (GRCm39) R559S probably benign Het
Cd276 T C 9: 58,442,895 (GRCm39) T187A probably benign Het
Ciao1 C T 2: 127,087,678 (GRCm39) R219H probably damaging Het
Clmn T C 12: 104,751,687 (GRCm39) D256G possibly damaging Het
Cobl A C 11: 12,206,225 (GRCm39) M550R possibly damaging Het
Cracr2b A T 7: 141,044,118 (GRCm39) T117S probably benign Het
Cx3cr1 G A 9: 119,881,282 (GRCm39) A40V probably benign Het
Cxcl14 A G 13: 56,440,344 (GRCm39) C72R probably damaging Het
Dab2 T A 15: 6,451,747 (GRCm39) I121N probably damaging Het
Dapk1 A G 13: 60,898,990 (GRCm39) Y820C probably damaging Het
Dele1 A G 18: 38,390,319 (GRCm39) N256D probably damaging Het
Ech1 T A 7: 28,525,623 (GRCm39) C91S probably damaging Het
Exosc5 T G 7: 25,358,734 (GRCm39) V25G probably benign Het
Fbp1 A C 13: 63,020,564 (GRCm39) D122E possibly damaging Het
Fbxw13 A G 9: 109,014,471 (GRCm39) Y101H unknown Het
Fcsk C T 8: 111,616,963 (GRCm39) G396S possibly damaging Het
Fhip1a G A 3: 85,579,871 (GRCm39) S778L probably benign Het
Fmnl1 T A 11: 103,077,453 (GRCm39) V271E probably damaging Het
Galnt1 T A 18: 24,417,866 (GRCm39) S545T probably benign Het
Galnt13 G A 2: 54,406,576 (GRCm39) V9M possibly damaging Het
Gm7995 A T 14: 42,132,302 (GRCm39) I45F Het
Gpr137 C T 19: 6,917,726 (GRCm39) R134Q possibly damaging Het
Gpr22 T G 12: 31,759,514 (GRCm39) I203L probably benign Het
H2-Q10 T C 17: 35,784,457 (GRCm39) Y324H not run Het
Hcn4 G A 9: 58,751,582 (GRCm39) E403K unknown Het
Hddc2 T A 10: 31,189,412 (GRCm39) M1K probably null Het
Hps3 A G 3: 20,089,329 (GRCm39) F34S probably damaging Het
Ift56 T A 6: 38,381,422 (GRCm39) Y319* probably null Het
Igdcc4 G T 9: 65,031,276 (GRCm39) V405L possibly damaging Het
Itpr2 C A 6: 146,231,006 (GRCm39) V1215L probably damaging Het
Kif26b T C 1: 178,742,339 (GRCm39) S812P probably damaging Het
Lgi1 T A 19: 38,289,713 (GRCm39) C260S probably damaging Het
Lhfpl6 A G 3: 53,168,020 (GRCm39) Y198C probably damaging Het
Lrpprc T C 17: 85,079,567 (GRCm39) T230A probably damaging Het
Lrtm2 A G 6: 119,297,784 (GRCm39) W86R probably benign Het
Maco1 A T 4: 134,555,590 (GRCm39) N294K possibly damaging Het
Magi2 G A 5: 20,563,954 (GRCm39) G199D probably damaging Het
Map1b C T 13: 99,644,648 (GRCm39) R85Q probably damaging Het
Marchf7 T A 2: 60,077,858 (GRCm39) probably null Het
Morc1 A G 16: 48,251,708 (GRCm39) D2G probably damaging Het
Mpp7 A T 18: 7,351,079 (GRCm39) F539L probably damaging Het
Muc13 A T 16: 33,634,951 (GRCm39) I502F probably damaging Het
Myh13 A G 11: 67,255,286 (GRCm39) probably null Het
Nat10 C G 2: 103,578,390 (GRCm39) L238F probably damaging Het
Nckap1 G A 2: 80,354,885 (GRCm39) T679I probably damaging Het
Npy6r T A 18: 44,409,260 (GRCm39) I227N probably damaging Het
Nudt18 A T 14: 70,815,389 (GRCm39) M1L unknown Het
Or13d1 T A 4: 52,971,207 (GRCm39) N195K probably damaging Het
Or14a257 G A 7: 86,138,417 (GRCm39) T114I probably damaging Het
Or4f14 T A 2: 111,742,637 (GRCm39) I213L probably benign Het
Or8d1 C A 9: 38,766,412 (GRCm39) T18K probably damaging Het
Or8u8 T C 2: 86,011,678 (GRCm39) Y259C probably damaging Het
Pcdha3 T A 18: 37,079,266 (GRCm39) F3I probably benign Het
Pcdhga3 T A 18: 37,808,917 (GRCm39) Y457N possibly damaging Het
Pclo A T 5: 14,719,631 (GRCm39) Q1256L unknown Het
Piezo2 C T 18: 63,157,543 (GRCm39) R2389H probably damaging Het
Pml G T 9: 58,154,496 (GRCm39) Q126K probably benign Het
Ppef2 A G 5: 92,376,563 (GRCm39) Y655H probably damaging Het
Ppp4r1 T C 17: 66,147,936 (GRCm39) V926A probably damaging Het
Psg29 A G 7: 16,945,648 (GRCm39) D406G possibly damaging Het
Ptprf T C 4: 118,092,864 (GRCm39) D517G probably benign Het
Ptprg G A 14: 12,142,461 (GRCm38) E371K probably benign Het
Pttg1ip2 T C 5: 5,505,952 (GRCm39) I110V probably benign Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rasgrp1 T A 2: 117,122,178 (GRCm39) D404V possibly damaging Het
Rb1cc1 T A 1: 6,315,727 (GRCm39) F541I probably damaging Het
Rgsl1 C A 1: 153,719,847 (GRCm39) probably null Het
Rhobtb2 C T 14: 70,033,397 (GRCm39) W524* probably null Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rims1 A G 1: 22,474,699 (GRCm39) S211P Het
Ripor2 A T 13: 24,854,054 (GRCm39) Q54L possibly damaging Het
Rnf213 A G 11: 119,372,117 (GRCm39) I4903V Het
Robo3 T A 9: 37,336,111 (GRCm39) I452F possibly damaging Het
Rpl27rt A G 18: 34,870,580 (GRCm39) K38R probably damaging Het
Seh1l C T 18: 67,916,988 (GRCm39) H56Y probably damaging Het
Sema3b T A 9: 107,480,162 (GRCm39) D192V probably damaging Het
Sidt1 A T 16: 44,106,763 (GRCm39) C222* probably null Het
Skor1 A G 9: 63,053,385 (GRCm39) F195L probably damaging Het
Slc44a2 A C 9: 21,259,642 (GRCm39) K596N possibly damaging Het
Smgc A G 15: 91,729,696 (GRCm39) K217E probably benign Het
Socs7 C A 11: 97,267,917 (GRCm39) H349Q possibly damaging Het
Speer4f2 A G 5: 17,581,540 (GRCm39) T161A Het
Spg11 T C 2: 121,924,026 (GRCm39) probably null Het
Ssb A G 2: 69,693,624 (GRCm39) T11A probably benign Het
Sun1 A G 5: 139,232,589 (GRCm39) S837G probably damaging Het
Szt2 A C 4: 118,220,668 (GRCm39) S3385A unknown Het
Tapbp T C 17: 34,139,391 (GRCm39) V129A possibly damaging Het
Thsd1 T C 8: 22,733,349 (GRCm39) I132T possibly damaging Het
Tm6sf2 T A 8: 70,530,589 (GRCm39) V223E possibly damaging Het
Tm9sf4 T A 2: 153,036,267 (GRCm39) M343K probably benign Het
Trank1 C A 9: 111,195,417 (GRCm39) P1147Q probably benign Het
Trip4 G A 9: 65,773,757 (GRCm39) T275M probably damaging Het
Tsen34 T C 7: 3,698,834 (GRCm39) probably null Het
Ttn T C 2: 76,680,422 (GRCm39) E1086G unknown Het
Ubr4 A T 4: 139,189,778 (GRCm39) M853L unknown Het
Ubxn11 A T 4: 133,852,466 (GRCm39) R352W probably damaging Het
Vmn1r35 G A 6: 66,656,219 (GRCm39) probably benign Het
Vmn2r107 C T 17: 20,595,994 (GRCm39) T849I probably benign Het
Vmn2r93 C A 17: 18,546,248 (GRCm39) L707I probably benign Het
Wwc1 G A 11: 35,766,533 (GRCm39) T574I probably benign Het
Zfp143 A G 7: 109,669,705 (GRCm39) M45V probably benign Het
Zfp518a T A 19: 40,902,601 (GRCm39) N843K possibly damaging Het
Zfp87 A T 13: 67,665,163 (GRCm39) M433K probably benign Het
Zfp873 C A 10: 81,896,461 (GRCm39) H397Q probably damaging Het
Zscan21 A T 5: 138,116,110 (GRCm39) probably benign Het
Other mutations in Lrp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Lrp5 APN 19 3,699,404 (GRCm39) missense probably benign
IGL00902:Lrp5 APN 19 3,650,774 (GRCm39) missense probably damaging 1.00
IGL02032:Lrp5 APN 19 3,665,886 (GRCm39) splice site probably benign
IGL02331:Lrp5 APN 19 3,641,816 (GRCm39) missense possibly damaging 0.64
IGL02401:Lrp5 APN 19 3,643,585 (GRCm39) missense probably damaging 1.00
IGL02471:Lrp5 APN 19 3,652,408 (GRCm39) missense probably benign 0.31
IGL02572:Lrp5 APN 19 3,664,283 (GRCm39) missense probably benign 0.17
IGL02637:Lrp5 APN 19 3,680,269 (GRCm39) missense probably benign 0.03
IGL02696:Lrp5 APN 19 3,652,253 (GRCm39) missense probably benign
IGL02742:Lrp5 APN 19 3,654,022 (GRCm39) missense probably damaging 0.99
IGL02804:Lrp5 APN 19 3,650,777 (GRCm39) missense possibly damaging 0.63
IGL03089:Lrp5 APN 19 3,670,314 (GRCm39) splice site probably null
IGL03243:Lrp5 APN 19 3,680,159 (GRCm39) missense probably benign 0.12
Contrarian UTSW 19 3,709,355 (GRCm39) missense probably damaging 1.00
Contrarian2 UTSW 19 3,702,296 (GRCm39) missense probably damaging 1.00
lucent UTSW 19 3,736,353 (GRCm39) critical splice donor site probably null
Microtome UTSW 19 3,672,638 (GRCm39) missense probably damaging 1.00
r18 UTSW 19 0 () small insertion
Spicule UTSW 19 3,662,197 (GRCm39) critical splice donor site probably null
Stirrup UTSW 19 3,650,753 (GRCm39) missense probably damaging 1.00
PIT4494001:Lrp5 UTSW 19 3,660,091 (GRCm39) missense probably damaging 1.00
R0219:Lrp5 UTSW 19 3,647,349 (GRCm39) missense probably damaging 1.00
R0526:Lrp5 UTSW 19 3,678,295 (GRCm39) missense probably damaging 1.00
R0597:Lrp5 UTSW 19 3,650,777 (GRCm39) missense possibly damaging 0.63
R0883:Lrp5 UTSW 19 3,655,308 (GRCm39) missense probably damaging 1.00
R1086:Lrp5 UTSW 19 3,699,476 (GRCm39) missense probably benign 0.28
R1417:Lrp5 UTSW 19 3,636,425 (GRCm39) missense probably benign 0.04
R1468:Lrp5 UTSW 19 3,670,191 (GRCm39) missense possibly damaging 0.76
R1468:Lrp5 UTSW 19 3,670,191 (GRCm39) missense possibly damaging 0.76
R1533:Lrp5 UTSW 19 3,664,234 (GRCm39) missense probably benign 0.17
R1538:Lrp5 UTSW 19 3,697,585 (GRCm39) missense possibly damaging 0.70
R1856:Lrp5 UTSW 19 3,647,346 (GRCm39) missense probably benign 0.18
R1930:Lrp5 UTSW 19 3,660,131 (GRCm39) missense probably benign 0.02
R1931:Lrp5 UTSW 19 3,660,131 (GRCm39) missense probably benign 0.02
R1932:Lrp5 UTSW 19 3,660,131 (GRCm39) missense probably benign 0.02
R1951:Lrp5 UTSW 19 3,670,298 (GRCm39) missense possibly damaging 0.89
R2016:Lrp5 UTSW 19 3,660,056 (GRCm39) missense probably benign 0.04
R2131:Lrp5 UTSW 19 3,672,708 (GRCm39) missense possibly damaging 0.87
R2153:Lrp5 UTSW 19 3,664,339 (GRCm39) missense probably benign 0.22
R2403:Lrp5 UTSW 19 3,647,430 (GRCm39) missense probably damaging 1.00
R3158:Lrp5 UTSW 19 3,665,849 (GRCm39) missense probably damaging 0.97
R3771:Lrp5 UTSW 19 3,662,330 (GRCm39) missense probably damaging 1.00
R3772:Lrp5 UTSW 19 3,662,330 (GRCm39) missense probably damaging 1.00
R3773:Lrp5 UTSW 19 3,662,330 (GRCm39) missense probably damaging 1.00
R3825:Lrp5 UTSW 19 3,655,290 (GRCm39) nonsense probably null
R3887:Lrp5 UTSW 19 3,662,330 (GRCm39) missense probably damaging 1.00
R3888:Lrp5 UTSW 19 3,662,330 (GRCm39) missense probably damaging 1.00
R3893:Lrp5 UTSW 19 3,662,330 (GRCm39) missense probably damaging 1.00
R3917:Lrp5 UTSW 19 3,662,330 (GRCm39) missense probably damaging 1.00
R4279:Lrp5 UTSW 19 3,641,778 (GRCm39) missense possibly damaging 0.94
R4714:Lrp5 UTSW 19 3,709,454 (GRCm39) missense probably damaging 1.00
R4825:Lrp5 UTSW 19 3,664,292 (GRCm39) missense probably damaging 1.00
R5102:Lrp5 UTSW 19 3,709,304 (GRCm39) missense probably damaging 0.96
R5138:Lrp5 UTSW 19 3,678,319 (GRCm39) missense probably benign 0.03
R5497:Lrp5 UTSW 19 3,652,319 (GRCm39) missense probably damaging 1.00
R5632:Lrp5 UTSW 19 3,672,512 (GRCm39) missense probably benign
R5887:Lrp5 UTSW 19 3,654,094 (GRCm39) missense probably benign 0.01
R5950:Lrp5 UTSW 19 3,652,333 (GRCm39) missense probably benign 0.17
R5987:Lrp5 UTSW 19 3,678,299 (GRCm39) missense probably damaging 1.00
R6080:Lrp5 UTSW 19 3,678,316 (GRCm39) missense probably benign 0.32
R6181:Lrp5 UTSW 19 3,678,427 (GRCm39) missense probably damaging 1.00
R6236:Lrp5 UTSW 19 3,680,483 (GRCm39) splice site probably null
R6332:Lrp5 UTSW 19 3,709,355 (GRCm39) missense probably damaging 1.00
R6511:Lrp5 UTSW 19 3,702,296 (GRCm39) missense probably damaging 1.00
R6641:Lrp5 UTSW 19 3,702,287 (GRCm39) missense probably damaging 1.00
R6791:Lrp5 UTSW 19 3,650,753 (GRCm39) missense probably damaging 1.00
R6865:Lrp5 UTSW 19 3,670,013 (GRCm39) critical splice donor site probably null
R6906:Lrp5 UTSW 19 3,672,638 (GRCm39) missense probably damaging 1.00
R6922:Lrp5 UTSW 19 3,655,301 (GRCm39) missense probably damaging 1.00
R7091:Lrp5 UTSW 19 3,680,184 (GRCm39) missense probably damaging 1.00
R7303:Lrp5 UTSW 19 3,641,774 (GRCm39) missense probably damaging 0.99
R7368:Lrp5 UTSW 19 3,670,085 (GRCm39) missense possibly damaging 0.95
R7381:Lrp5 UTSW 19 3,643,588 (GRCm39) missense probably benign 0.20
R7385:Lrp5 UTSW 19 3,662,197 (GRCm39) critical splice donor site probably null
R7392:Lrp5 UTSW 19 3,660,199 (GRCm39) missense probably damaging 1.00
R7585:Lrp5 UTSW 19 3,654,094 (GRCm39) missense possibly damaging 0.88
R7662:Lrp5 UTSW 19 3,736,353 (GRCm39) critical splice donor site probably null
R7984:Lrp5 UTSW 19 3,662,342 (GRCm39) missense probably damaging 1.00
R8056:Lrp5 UTSW 19 3,647,337 (GRCm39) missense probably damaging 0.98
R8391:Lrp5 UTSW 19 3,654,185 (GRCm39) missense probably damaging 1.00
R8881:Lrp5 UTSW 19 3,641,015 (GRCm39) missense probably damaging 0.98
R8885:Lrp5 UTSW 19 3,702,170 (GRCm39) missense probably damaging 1.00
R9051:Lrp5 UTSW 19 3,680,156 (GRCm39) missense possibly damaging 0.89
R9263:Lrp5 UTSW 19 3,654,190 (GRCm39) missense probably damaging 1.00
R9376:Lrp5 UTSW 19 3,670,286 (GRCm39) missense probably benign 0.00
R9400:Lrp5 UTSW 19 3,635,272 (GRCm39) missense probably benign 0.00
R9536:Lrp5 UTSW 19 3,672,672 (GRCm39) missense probably damaging 1.00
R9600:Lrp5 UTSW 19 3,641,712 (GRCm39) missense probably benign 0.00
Z1177:Lrp5 UTSW 19 3,678,345 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGATCTGCCTGATGTAGCCTC -3'
(R):5'- AGTTGGCCTGAGAGGTCTTC -3'

Sequencing Primer
(F):5'- GATGTAGCCTCTCCGACCTG -3'
(R):5'- GAGAGGTCTTCTCCTAACCACTCTG -3'
Posted On 2019-10-07