Incidental Mutation 'R6181:Lrp5'
ID 488120
Institutional Source Beutler Lab
Gene Symbol Lrp5
Ensembl Gene ENSMUSG00000024913
Gene Name low density lipoprotein receptor-related protein 5
Synonyms LRP7, LR3
MMRRC Submission 044323-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R6181 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 3634828-3736564 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3678427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 476 (D476G)
Ref Sequence ENSEMBL: ENSMUSP00000135654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025856] [ENSMUST00000176867] [ENSMUST00000177330]
AlphaFold Q91VN0
Predicted Effect probably damaging
Transcript: ENSMUST00000025856
AA Change: D476G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025856
Gene: ENSMUSG00000024913
AA Change: D476G

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 damaging
Transcript: ENSMUST00000176867
AA Change: D476G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135654
Gene: ENSMUSG00000024913
AA Change: D476G

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b7 A G 6: 34,392,313 (GRCm39) H42R possibly damaging Het
Ankrd26 T A 6: 118,525,838 (GRCm39) H369L probably benign Het
Ano7 T C 1: 93,323,081 (GRCm39) S474P probably damaging Het
Aox3 T C 1: 58,198,105 (GRCm39) V639A probably benign Het
Arhgef2 T A 3: 88,542,927 (GRCm39) V358E probably damaging Het
Brpf3 A G 17: 29,029,555 (GRCm39) Y505C probably damaging Het
Casd1 A G 6: 4,619,331 (GRCm39) T120A probably damaging Het
Ccdc121 A G 5: 31,645,399 (GRCm39) E384G probably damaging Het
Cd200l1 A G 16: 45,238,260 (GRCm39) S185P probably benign Het
Clasp1 T G 1: 118,347,547 (GRCm39) S32A probably benign Het
Clca3a2 A T 3: 144,796,469 (GRCm39) L246* probably null Het
Clcn7 A G 17: 25,370,702 (GRCm39) I353V possibly damaging Het
Cluap1 T A 16: 3,751,608 (GRCm39) D322E probably benign Het
Cmtm4 A C 8: 105,082,997 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,742 (GRCm39) P723S probably damaging Het
Col6a3 T A 1: 90,744,096 (GRCm39) T84S possibly damaging Het
Corin A G 5: 72,529,439 (GRCm39) probably null Het
Cubn G A 2: 13,354,687 (GRCm39) T1903I probably benign Het
Cyp27b1 A C 10: 126,886,279 (GRCm39) D320A probably damaging Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dennd2a T C 6: 39,462,554 (GRCm39) K652R probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock1 T A 7: 134,760,251 (GRCm39) M1638K probably damaging Het
Efcab3 T C 11: 104,722,159 (GRCm39) S1924P probably benign Het
Eya1 T C 1: 14,373,096 (GRCm39) S8G probably damaging Het
Fam193a T A 5: 34,600,884 (GRCm39) probably null Het
Fbxw11 T A 11: 32,692,575 (GRCm39) N515K probably benign Het
Gm6408 T C 5: 146,420,582 (GRCm39) V154A possibly damaging Het
Guf1 A G 5: 69,719,059 (GRCm39) Y235C probably damaging Het
Hnrnpul2 C T 19: 8,800,596 (GRCm39) S224L possibly damaging Het
Igkv8-19 T A 6: 70,317,968 (GRCm39) D86V probably damaging Het
Iqcf1 A T 9: 106,379,174 (GRCm39) D61V probably damaging Het
Luzp1 A G 4: 136,270,578 (GRCm39) T934A probably benign Het
Mboat7 A T 7: 3,686,884 (GRCm39) Y319N probably benign Het
Mdn1 A G 4: 32,715,953 (GRCm39) E2045G probably damaging Het
Mfsd14b T C 13: 65,260,398 (GRCm39) R12G probably benign Het
Micall2 T A 5: 139,702,506 (GRCm39) T246S probably benign Het
Npepps A G 11: 97,132,830 (GRCm39) V299A probably damaging Het
Or2y11 T A 11: 49,443,120 (GRCm39) V182D probably damaging Het
P2ry13 A G 3: 59,117,328 (GRCm39) V150A probably benign Het
Pdc T C 1: 150,209,021 (GRCm39) I168T probably damaging Het
Pde8b C T 13: 95,223,316 (GRCm39) E313K probably benign Het
Pgap1 C T 1: 54,551,936 (GRCm39) G499R probably benign Het
Ppp1r15b T A 1: 133,060,261 (GRCm39) C259* probably null Het
Pramel21 T A 4: 143,342,828 (GRCm39) probably null Het
Ptgs1 A G 2: 36,141,131 (GRCm39) E526G probably damaging Het
Ptpn21 A G 12: 98,666,258 (GRCm39) L271P probably damaging Het
Rbm47 T C 5: 66,183,833 (GRCm39) T257A possibly damaging Het
Rfc3 C T 5: 151,570,985 (GRCm39) D104N probably damaging Het
Rhobtb3 A G 13: 76,058,808 (GRCm39) I330T probably benign Het
Rnf207 T C 4: 152,393,305 (GRCm39) T570A probably benign Het
Rusf1 A G 7: 127,896,632 (GRCm39) probably null Het
Sbpl T C 17: 24,172,466 (GRCm39) H151R probably damaging Het
Sstr3 T C 15: 78,423,661 (GRCm39) D362G probably benign Het
St7 T C 6: 17,694,363 (GRCm39) probably null Het
Tasor T A 14: 27,194,235 (GRCm39) M1145K probably benign Het
Tdrd6 A G 17: 43,939,788 (GRCm39) V420A probably damaging Het
Tet2 C A 3: 133,193,520 (GRCm39) E305* probably null Het
Tmem209 A T 6: 30,505,970 (GRCm39) V68E probably damaging Het
Tmod4 A T 3: 95,035,118 (GRCm39) I208F probably damaging Het
Tpo G A 12: 30,181,884 (GRCm39) L4F probably benign Het
Urb1 T C 16: 90,575,982 (GRCm39) H858R probably benign Het
Utrn A G 10: 12,615,200 (GRCm39) W324R probably damaging Het
V1rd19 T A 7: 23,702,640 (GRCm39) F35L possibly damaging Het
Vmn1r170 C A 7: 23,305,692 (GRCm39) N31K probably damaging Het
Vmn1r192 T A 13: 22,371,452 (GRCm39) Y256F probably damaging Het
Vmn2r124 T C 17: 18,294,019 (GRCm39) I702T possibly damaging Het
Vmn2r96 G A 17: 18,804,126 (GRCm39) A459T probably benign Het
Vwf G T 6: 125,543,109 (GRCm39) A132S probably damaging Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp608 A G 18: 55,028,700 (GRCm39) S1238P possibly damaging Het
Zfp804a G T 2: 82,087,486 (GRCm39) M438I probably damaging Het
Zgrf1 G A 3: 127,381,590 (GRCm39) G246S probably damaging Het
Zwint T C 10: 72,492,431 (GRCm39) V115A 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
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
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'- ATGCCTCCATGCACATCTGTG -3'
(R):5'- TCAGAATTTTCCTACGGGGTG -3'

Sequencing Primer
(F):5'- CACATCTGTGCCTGGGG -3'
(R):5'- AATTTTCCTACGGGGTGGGAGC -3'
Posted On 2017-10-10