Incidental Mutation 'R7662:Lrp5'
ID 591676
Institutional Source Beutler Lab
Gene Symbol Lrp5
Ensembl Gene ENSMUSG00000024913
Gene Name low density lipoprotein receptor-related protein 5
Synonyms LRP7, LR3
MMRRC Submission 045737-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R7662 (G1)
Quality Score 156.008
Status Validated
Chromosome 19
Chromosomal Location 3634828-3736564 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 3736353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025856] [ENSMUST00000176867] [ENSMUST00000177330]
AlphaFold Q91VN0
Predicted Effect probably null
Transcript: ENSMUST00000025856
SMART Domains Protein: ENSMUSP00000025856
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
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 null
Transcript: ENSMUST00000176867
SMART Domains Protein: ENSMUSP00000135654
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
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
Meta Mutation Damage Score 0.9362 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,885,999 (GRCm39) S48L probably benign Het
Abi3bp A G 16: 56,437,686 (GRCm39) probably null Het
Adss1 T A 12: 112,606,172 (GRCm39) V456E probably damaging Het
Aimp1 A T 3: 132,379,827 (GRCm39) V105E probably benign Het
Ankrd6 G A 4: 32,818,694 (GRCm39) R270C probably damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Asb15 T A 6: 24,566,089 (GRCm39) D347E probably benign Het
Axin2 T A 11: 108,833,282 (GRCm39) L489Q possibly damaging Het
Baiap2l1 G A 5: 144,294,700 (GRCm39) probably benign Het
Cdc6 T A 11: 98,801,438 (GRCm39) N194K possibly damaging Het
Cdc6 T C 11: 98,807,836 (GRCm39) L443P probably benign Het
Celf2 C A 2: 6,558,728 (GRCm39) G393C probably damaging Het
Cep290 T A 10: 100,373,665 (GRCm39) M1315K probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cntn5 A T 9: 9,661,390 (GRCm39) M887K probably benign Het
Col17a1 T C 19: 47,669,940 (GRCm39) I71V probably benign Het
Crot T C 5: 9,019,072 (GRCm39) M494V probably damaging Het
Ctnna2 A T 6: 77,613,852 (GRCm39) V246D probably damaging Het
Cyb5r4 A G 9: 86,909,091 (GRCm39) E56G possibly damaging Het
Dennd2a A G 6: 39,470,037 (GRCm39) Y552H probably benign Het
Dennd4a A G 9: 64,759,713 (GRCm39) I273V probably damaging Het
Dkk2 A G 3: 131,883,629 (GRCm39) probably null Het
Dnaja2 A C 8: 86,265,905 (GRCm39) D393E probably benign Het
Dscc1 T A 15: 54,939,561 (GRCm39) I461F possibly damaging Het
Dspp A T 5: 104,325,736 (GRCm39) S700C unknown Het
Ect2 T A 3: 27,185,947 (GRCm39) H512L probably damaging Het
Eif1b A G 9: 120,323,277 (GRCm39) T46A possibly damaging Het
Fam114a2 A T 11: 57,398,391 (GRCm39) D182E probably damaging Het
Fez1 C A 9: 36,781,796 (GRCm39) P347H probably damaging Het
Fgd5 G A 6: 92,026,912 (GRCm39) probably null Het
Flad1 T A 3: 89,310,758 (GRCm39) I430F probably damaging Het
Gal3st2b T C 1: 93,868,614 (GRCm39) Y282H probably damaging Het
Gm29106 T A 1: 118,127,137 (GRCm39) N276K possibly damaging Het
Gm36176 C A 10: 77,682,686 (GRCm39) S16Y unknown Het
Gm5624 T C 14: 44,799,390 (GRCm39) R56G possibly damaging Het
Gpatch11 A C 17: 79,146,484 (GRCm39) Q43P probably benign Het
Gtpbp2 A G 17: 46,477,361 (GRCm39) T409A probably benign Het
Hmcn2 T C 2: 31,272,357 (GRCm39) I1279T probably benign Het
Itih3 T A 14: 30,639,287 (GRCm39) N429Y probably benign Het
Lrrc34 T A 3: 30,697,452 (GRCm39) Y93F probably benign Het
Lypd9 T C 11: 58,338,269 (GRCm39) N41S probably benign Het
Malrd1 T A 2: 15,876,265 (GRCm39) V1404D unknown Het
Med1 T C 11: 98,046,218 (GRCm39) N1526S unknown Het
Myt1l A G 12: 29,876,868 (GRCm39) D173G unknown Het
Nckap1l A T 15: 103,371,012 (GRCm39) H197L probably damaging Het
Nipa1 T C 7: 55,629,372 (GRCm39) E247G probably damaging Het
Nmrk1 A T 19: 18,619,542 (GRCm39) R132* probably null Het
Nrap G T 19: 56,308,715 (GRCm39) A1700E probably benign Het
Odr4 T C 1: 150,258,045 (GRCm39) S197G probably benign Het
Or13p8 T A 4: 118,583,504 (GRCm39) F20Y probably damaging Het
Or8g32 A T 9: 39,305,389 (GRCm39) M98L probably benign Het
Padi6 T C 4: 140,456,306 (GRCm39) T563A probably benign Het
Pcdhb19 G A 18: 37,631,788 (GRCm39) E528K probably damaging Het
Pcnt T C 10: 76,223,356 (GRCm39) D1942G probably benign Het
Pcnx2 C T 8: 126,545,510 (GRCm39) W1167* probably null Het
Pkp3 C T 7: 140,658,292 (GRCm39) T19I probably benign Het
Plekhg5 T C 4: 152,188,755 (GRCm39) L199P probably damaging Het
Rasal1 A G 5: 120,800,249 (GRCm39) T171A probably benign Het
Rgsl1 T C 1: 153,701,225 (GRCm39) I410V probably benign Het
Scart2 T C 7: 139,874,725 (GRCm39) V401A possibly damaging Het
Sftpa1 C A 14: 40,856,169 (GRCm39) N171K probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smap1 A T 1: 23,916,855 (GRCm39) N91K probably damaging Het
Tenm3 A G 8: 48,788,762 (GRCm39) S695P probably benign Het
Thoc3 A T 13: 54,611,617 (GRCm39) H223Q probably damaging Het
Tmco4 T C 4: 138,737,872 (GRCm39) F156L probably benign Het
Tmem30a C T 9: 79,682,513 (GRCm39) V188I probably benign Het
Trim27 T A 13: 21,376,328 (GRCm39) C359S probably benign Het
Trrap A G 5: 144,769,321 (GRCm39) T2609A probably benign Het
Ttn A G 2: 76,692,744 (GRCm39) V446A Het
Vat1l T A 8: 115,009,084 (GRCm39) Y273N probably damaging Het
Vmn1r129 T A 7: 21,094,552 (GRCm39) H222L possibly damaging Het
Vmn2r19 A G 6: 123,308,521 (GRCm39) T533A probably benign Het
Vmn2r77 T A 7: 86,460,492 (GRCm39) L606* probably null Het
Vmn2r93 G T 17: 18,525,631 (GRCm39) V430L probably benign Het
Vps50 T A 6: 3,562,304 (GRCm39) N466K probably damaging Het
Zfp507 A T 7: 35,487,229 (GRCm39) Y746* probably null Het
Zfp521 A C 18: 13,977,173 (GRCm39) L1080R probably damaging Het
Zfp74 A G 7: 29,653,278 (GRCm39) probably null Het
Zfp831 G A 2: 174,487,934 (GRCm39) A870T possibly damaging Het
Zfp936 A T 7: 42,839,336 (GRCm39) K268* probably null Het
Zhx2 C A 15: 57,685,572 (GRCm39) R314S probably damaging Het
Zkscan16 A T 4: 58,957,679 (GRCm39) K654* probably null 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
R7585:Lrp5 UTSW 19 3,654,094 (GRCm39) missense possibly damaging 0.88
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'- AGTAGTTCGCGATAGGCCAG -3'
(R):5'- TCAGTACAGAGACTTGGCAGGTG -3'

Sequencing Primer
(F):5'- GTGGGCGCACTCCTGAG -3'
(R):5'- AGACTTGGCAGGTGACCCAC -3'
Posted On 2019-11-12