Incidental Mutation 'R5632:Lrp5'
ID 439951
Institutional Source Beutler Lab
Gene Symbol Lrp5
Ensembl Gene ENSMUSG00000024913
Gene Name low density lipoprotein receptor-related protein 5
Synonyms LRP7, LR3
MMRRC Submission 043283-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R5632 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 3634828-3736564 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3672512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 599 (V599A)
Ref Sequence ENSEMBL: ENSMUSP00000135654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025856] [ENSMUST00000176867] [ENSMUST00000177330]
AlphaFold Q91VN0
Predicted Effect probably benign
Transcript: ENSMUST00000025856
AA Change: V599A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025856
Gene: ENSMUSG00000024913
AA Change: V599A

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: V599A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135654
Gene: ENSMUSG00000024913
AA Change: V599A

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,664,076 (GRCm39) T7A probably benign Het
Adam33 T G 2: 130,895,362 (GRCm39) D619A probably damaging Het
Ajm1 T C 2: 25,469,276 (GRCm39) T212A probably benign Het
Aldh3b3 C T 19: 4,018,522 (GRCm39) probably benign Het
Arhgef15 G A 11: 68,844,877 (GRCm39) P240L probably benign Het
Arhgef40 C A 14: 52,231,795 (GRCm39) T727K probably damaging Het
Arrdc1 T C 2: 24,817,840 (GRCm39) T43A probably benign Het
Bcl2l15 A G 3: 103,743,378 (GRCm39) N93S probably benign Het
Cd5l G T 3: 87,273,414 (GRCm39) E128* probably null Het
Cep97 T C 16: 55,735,946 (GRCm39) D284G probably benign Het
Ckmt1 T A 2: 121,191,073 (GRCm39) S162T probably damaging Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cpeb4 A G 11: 31,839,877 (GRCm39) D53G probably damaging Het
Crocc2 T A 1: 93,145,575 (GRCm39) S1485R probably damaging Het
Dcaf5 G A 12: 80,444,526 (GRCm39) A189V probably damaging Het
Duox2 C T 2: 122,111,936 (GRCm39) G1355S probably damaging Het
Fam120b C T 17: 15,623,344 (GRCm39) P441S probably benign Het
Fbxo41 A G 6: 85,461,486 (GRCm39) L74P probably damaging Het
H2-DMa A G 17: 34,356,975 (GRCm39) T158A probably benign Het
Hcar2 T A 5: 124,002,532 (GRCm39) T324S probably benign Het
Hif3a T C 7: 16,784,580 (GRCm39) I222V possibly damaging Het
Ighv1-7 A G 12: 114,502,501 (GRCm39) probably benign Het
Il20 T C 1: 130,835,165 (GRCm39) E151G probably benign Het
Jarid2 A G 13: 45,049,766 (GRCm39) E236G probably damaging Het
Knl1 T C 2: 118,900,833 (GRCm39) S845P probably damaging Het
Lamc2 T C 1: 153,007,636 (GRCm39) Y846C probably damaging Het
Lrrc8b T A 5: 105,628,163 (GRCm39) S170T possibly damaging Het
Mex3d T C 10: 80,218,428 (GRCm39) K263R probably damaging Het
Mtor A G 4: 148,553,463 (GRCm39) K784E possibly damaging Het
Naip5 C A 13: 100,367,170 (GRCm39) probably null Het
Ncor1 T C 11: 62,229,060 (GRCm39) T609A possibly damaging Het
Ndufs1 C T 1: 63,189,218 (GRCm39) A536T probably benign Het
Neto1 A G 18: 86,516,768 (GRCm39) I362V probably benign Het
Nfatc3 T C 8: 106,805,689 (GRCm39) L178P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nsd3 C T 8: 26,169,985 (GRCm39) T707M probably benign Het
Or51f2 A C 7: 102,527,004 (GRCm39) S226R probably benign Het
Or5w1b A T 2: 87,475,573 (GRCm39) V298E probably damaging Het
Or9g19 T C 2: 85,600,613 (GRCm39) V156A probably benign Het
Pcnx1 T A 12: 81,964,504 (GRCm39) S224T probably damaging Het
Peak1 T C 9: 56,165,058 (GRCm39) T957A probably damaging Het
Pex7 A T 10: 19,764,483 (GRCm39) D153E probably damaging Het
Plscr1 A G 9: 92,148,477 (GRCm39) E139G probably damaging Het
Psmb8 T C 17: 34,420,214 (GRCm39) Y269H probably benign Het
Rmc1 T C 18: 12,304,640 (GRCm39) F72L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Sft2d2 T C 1: 165,012,657 (GRCm39) T80A probably damaging Het
Slc12a5 A G 2: 164,829,141 (GRCm39) I583M possibly damaging Het
Slc23a4 T C 6: 34,933,957 (GRCm39) M49V probably benign Het
Smarcb1 G A 10: 75,740,252 (GRCm39) Q309* probably null Het
Sphkap A T 1: 83,256,006 (GRCm39) V294E probably benign Het
Stoml1 C A 9: 58,160,653 (GRCm39) P35Q probably damaging Het
Timm10b G C 7: 105,290,329 (GRCm39) R42P probably damaging Het
Tnfrsf8 A T 4: 145,019,203 (GRCm39) S211T possibly damaging Het
Ttn T C 2: 76,536,164 (GRCm39) T26738A probably damaging Het
Vps13d A T 4: 144,801,452 (GRCm39) Y474N probably damaging Het
Wdr81 A T 11: 75,336,732 (GRCm39) F1552L probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wnt7a A C 6: 91,371,637 (GRCm39) Y108* probably null Het
Zfp512b C T 2: 181,227,461 (GRCm39) R56K 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
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
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'- AGCTAATCCGTGACCACTCC -3'
(R):5'- TTTTGCCCTCACACAGGTG -3'

Sequencing Primer
(F):5'- AATCCGTGACCACTCCCTTCTC -3'
(R):5'- CAAAGCGGAAGACCCTGCTTG -3'
Posted On 2016-11-08