Incidental Mutation 'R7585:Lrp5'
ID 587110
Institutional Source Beutler Lab
Gene Symbol Lrp5
Ensembl Gene ENSMUSG00000024913
Gene Name low density lipoprotein receptor-related protein 5
Synonyms LRP7, LR3
MMRRC Submission 045635-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R7585 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 3634828-3736564 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3654094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1111 (I1111N)
Ref Sequence ENSEMBL: ENSMUSP00000025856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025856] [ENSMUST00000177294] [ENSMUST00000177330]
AlphaFold Q91VN0
Predicted Effect possibly damaging
Transcript: ENSMUST00000025856
AA Change: I1111N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025856
Gene: ENSMUSG00000024913
AA Change: I1111N

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: ENSMUST00000177294
SMART Domains Protein: ENSMUSP00000134771
Gene: ENSMUSG00000024913

DomainStartEndE-ValueType
LY 1 26 1.88e1 SMART
LY 27 70 3.81e-11 SMART
LY 71 112 3.54e-6 SMART
LY 113 152 1.33e-1 SMART
EGF 179 216 1.22e0 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: 99.1%
Validation Efficiency
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,854,851 (GRCm39) T64A probably benign Het
A930009A15Rik T A 10: 115,414,230 (GRCm39) V52D unknown Het
Aadacl2fm2 C A 3: 59,651,143 (GRCm39) D88E possibly damaging Het
Acacb A G 5: 114,384,073 (GRCm39) I2201V probably damaging Het
Aco2 A C 15: 81,756,685 (GRCm39) probably benign Het
Acod1 C T 14: 103,292,177 (GRCm39) Q234* probably null Het
Actr6 T C 10: 89,561,658 (GRCm39) S163G probably benign Het
Agmat T C 4: 141,477,056 (GRCm39) V154A probably benign Het
Agrn T C 4: 156,255,131 (GRCm39) N1584S probably benign Het
Alg6 A T 4: 99,626,371 (GRCm39) S60C probably damaging Het
Ap5s1 T C 2: 131,054,482 (GRCm39) F98L probably damaging Het
Atp6v1f G A 6: 29,467,927 (GRCm39) V38I possibly damaging Het
B3gnt3 T C 8: 72,145,972 (GRCm39) T186A probably damaging Het
Brpf1 T C 6: 113,292,007 (GRCm39) V351A possibly damaging Het
Cacna1g A G 11: 94,364,368 (GRCm39) S26P probably benign Het
Camta1 G A 4: 151,229,287 (GRCm39) S515L probably damaging Het
Ccdc122 C A 14: 77,329,139 (GRCm39) A64E probably damaging Het
Ccdc89 C A 7: 90,076,510 (GRCm39) T240K possibly damaging Het
Cercam T C 2: 29,771,743 (GRCm39) L521P probably damaging Het
Cfb T C 17: 35,076,737 (GRCm39) N561S probably benign Het
Clk3 T C 9: 57,669,119 (GRCm39) E159G probably damaging Het
Cntf A T 19: 12,741,587 (GRCm39) L91* probably null Het
Cntn4 T A 6: 106,466,572 (GRCm39) I158N probably damaging Het
Cog5 T A 12: 31,810,888 (GRCm39) I194K probably damaging Het
Col22a1 T A 15: 71,764,054 (GRCm39) D66V probably damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Csmd3 T C 15: 48,485,471 (GRCm39) T145A possibly damaging Het
D130043K22Rik A G 13: 25,069,568 (GRCm39) I876V probably benign Het
Dlec1 T C 9: 118,971,819 (GRCm39) S1335P probably benign Het
Dnah5 A T 15: 28,402,014 (GRCm39) T3392S probably benign Het
Dnal1 A G 12: 84,171,267 (GRCm39) K21E probably benign Het
Dspp T C 5: 104,323,391 (GRCm39) V178A possibly damaging Het
Dst A G 1: 34,153,096 (GRCm39) D119G possibly damaging Het
Dyrk4 T A 6: 126,867,007 (GRCm39) I342F probably damaging Het
Eif3b A G 5: 140,425,757 (GRCm39) D649G probably damaging Het
Exoc7 T C 11: 116,191,124 (GRCm39) D259G probably benign Het
Fancm T C 12: 65,153,021 (GRCm39) V1159A possibly damaging Het
Fat3 T C 9: 15,909,558 (GRCm39) D2148G probably benign Het
Fdps C A 3: 89,001,113 (GRCm39) R300L probably benign Het
Gfm2 T C 13: 97,315,540 (GRCm39) L736P probably benign Het
Grin2b T A 6: 135,756,301 (GRCm39) T475S probably damaging Het
H2-M3 T G 17: 37,581,599 (GRCm39) L87R probably damaging Het
Hao1 T A 2: 134,343,076 (GRCm39) I272F probably damaging Het
Hapln2 C T 3: 87,929,980 (GRCm39) G299S probably damaging Het
Hdac3 A T 18: 38,078,408 (GRCm39) I154N probably damaging Het
Herc1 A G 9: 66,352,829 (GRCm39) D2105G probably damaging Het
Kcna2 T C 3: 107,012,658 (GRCm39) F413S probably damaging Het
Kctd13 A G 7: 126,528,458 (GRCm39) T78A possibly damaging Het
Kif20a A G 18: 34,758,591 (GRCm39) D20G probably benign Het
Kif26b A T 1: 178,744,061 (GRCm39) I1386F probably benign Het
Klc4 T A 17: 46,942,810 (GRCm39) M585L probably benign Het
Lrp4 A G 2: 91,322,933 (GRCm39) Y1139C probably damaging Het
Lrriq1 A T 10: 103,050,807 (GRCm39) D648E possibly damaging Het
Mmp2 G A 8: 93,563,564 (GRCm39) G346D probably damaging Het
Mrgpra4 T A 7: 47,631,377 (GRCm39) I75L probably benign Het
Muc4 T A 16: 32,586,076 (GRCm39) V537D Het
Myh2 T A 11: 67,070,237 (GRCm39) probably null Het
Myrf T C 19: 10,194,091 (GRCm39) T487A probably damaging Het
Nalcn A T 14: 123,753,050 (GRCm39) L312H probably damaging Het
Nop14 G A 5: 34,802,124 (GRCm39) P560L probably damaging Het
Nufip1 C G 14: 76,348,427 (GRCm39) P19A probably benign Het
Oosp3 G T 19: 11,678,322 (GRCm39) M99I probably benign Het
Or14c40 T C 7: 86,313,880 (GRCm39) *337Q probably null Het
Or4c52 A T 2: 89,845,393 (GRCm39) I40F probably damaging Het
Or4x13 T A 2: 90,231,367 (GRCm39) Y121N probably damaging Het
Or51aa5 C A 7: 103,167,166 (GRCm39) V142L possibly damaging Het
Or51k2 A G 7: 103,596,607 (GRCm39) N278S probably benign Het
Or52n4b C A 7: 108,144,598 (GRCm39) P289T probably damaging Het
Or6b2b A G 1: 92,419,042 (GRCm39) V145A probably benign Het
Or7e175 T C 9: 20,040,307 (GRCm39) Het
Panx2 A G 15: 88,952,169 (GRCm39) K212R probably damaging Het
Paxip1 A C 5: 27,977,002 (GRCm39) H353Q unknown Het
Pbx4 C A 8: 70,285,475 (GRCm39) D39E probably damaging Het
Phc2 G A 4: 128,604,932 (GRCm39) A223T probably benign Het
Plcl1 A G 1: 55,445,608 (GRCm39) D21G probably benign Het
Plec G A 15: 76,057,632 (GRCm39) R4102W probably damaging Het
Plekhh2 A G 17: 84,884,608 (GRCm39) Y774C probably benign Het
Polr2a A T 11: 69,630,828 (GRCm39) Y1197N probably damaging Het
Psmg4 A T 13: 34,347,195 (GRCm39) H46L probably benign Het
Ptprk A G 10: 28,436,084 (GRCm39) Y815C probably damaging Het
Qrich2 T C 11: 116,346,547 (GRCm39) I1426V probably benign Het
Rbm43 T C 2: 51,816,763 (GRCm39) D68G probably benign Het
Rgs6 T C 12: 83,153,644 (GRCm39) S360P probably damaging Het
Rp1l1 T G 14: 64,267,588 (GRCm39) L1058R probably damaging Het
Rreb1 A G 13: 38,077,874 (GRCm39) S29G probably benign Het
Scube1 C A 15: 83,522,988 (GRCm39) R284L possibly damaging Het
Serpinb9h G T 13: 33,588,299 (GRCm39) D295Y probably benign Het
Slc13a3 T C 2: 165,272,242 (GRCm39) Q267R probably benign Het
Slc49a3 T C 5: 108,596,685 (GRCm39) T16A probably benign Het
Slc5a1 A T 5: 33,318,288 (GRCm39) N647I probably damaging Het
Sphk2 A T 7: 45,361,006 (GRCm39) S333T probably benign Het
Sptan1 A G 2: 29,890,068 (GRCm39) D1050G probably benign Het
Tdo2 G T 3: 81,870,065 (GRCm39) A269E probably damaging Het
Tnc A T 4: 63,938,648 (GRCm39) C64S probably damaging Het
Trim47 T A 11: 115,998,383 (GRCm39) E360D probably damaging Het
Trp53i13 T A 11: 77,399,129 (GRCm39) T374S possibly damaging Het
Try5 A G 6: 41,288,748 (GRCm39) L157P probably benign Het
Ttn A T 2: 76,578,176 (GRCm39) V24239D probably damaging Het
Ttn T C 2: 76,773,667 (GRCm39) Y2318C unknown Het
Txn1 T C 4: 57,945,199 (GRCm39) D68G possibly damaging Het
Upf3a A G 8: 13,837,418 (GRCm39) D121G probably damaging Het
Vmn2r114 T C 17: 23,510,239 (GRCm39) Y747C probably damaging Het
Vmn2r68 A G 7: 84,881,587 (GRCm39) W498R probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Zp2 A T 7: 119,733,167 (GRCm39) F591L probably damaging 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
R7448:Lrp5 UTSW 19 3,699,439 (GRCm39) missense probably benign 0.01
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'- CCCCTATTGGTAGTAAGGAAGG -3'
(R):5'- CATGAGGTATAACCCGGCAG -3'

Sequencing Primer
(F):5'- CCTATTGGTAGTAAGGAAGGCTGGG -3'
(R):5'- TATAACCCGGCAGCCTGGAG -3'
Posted On 2019-10-24