Incidental Mutation 'R9272:Lrp8'
ID 703005
Institutional Source Beutler Lab
Gene Symbol Lrp8
Ensembl Gene ENSMUSG00000028613
Gene Name low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
Synonyms 4932703M08Rik, Lr8b, apoER2
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R9272 (G1)
Quality Score 209.009
Status Validated
Chromosome 4
Chromosomal Location 107659337-107734037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 107717158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 603 (P603T)
Ref Sequence ENSEMBL: ENSMUSP00000102343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030356] [ENSMUST00000106732] [ENSMUST00000106733] [ENSMUST00000126573] [ENSMUST00000143601]
AlphaFold Q924X6
Predicted Effect probably benign
Transcript: ENSMUST00000030356
AA Change: P688T

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030356
Gene: ENSMUSG00000028613
AA Change: P688T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LDLa 40 77 3.24e-13 SMART
EGF_like 79 117 3.29e1 SMART
LDLa 79 118 2.45e-13 SMART
LDLa 120 159 1.19e-11 SMART
LDLa 160 197 3.52e-14 SMART
LDLa 199 239 8.09e-14 SMART
LDLa 250 288 4.05e-14 SMART
LDLa 290 327 4.58e-13 SMART
EGF 331 367 2.83e-5 SMART
EGF_CA 368 407 9.91e-10 SMART
LY 434 476 8.44e-4 SMART
LY 481 523 2.29e-14 SMART
LY 524 567 5.96e-13 SMART
LY 568 610 4.21e-13 SMART
LY 612 654 7.24e-3 SMART
EGF 681 727 1.56e1 SMART
low complexity region 729 745 N/A INTRINSIC
low complexity region 783 798 N/A INTRINSIC
transmembrane domain 818 840 N/A INTRINSIC
low complexity region 863 869 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000102342
Gene: ENSMUSG00000028613
AA Change: P490T

DomainStartEndE-ValueType
EGF_like 9 47 3.29e1 SMART
LDLa 9 48 2.45e-13 SMART
LDLa 50 89 1.19e-11 SMART
LDLa 93 130 4.58e-13 SMART
EGF 134 170 2.83e-5 SMART
EGF_CA 171 210 9.91e-10 SMART
LY 237 279 8.44e-4 SMART
LY 284 326 2.29e-14 SMART
LY 327 370 5.96e-13 SMART
LY 371 413 4.21e-13 SMART
LY 415 457 7.24e-3 SMART
EGF 484 530 1.56e1 SMART
low complexity region 532 548 N/A INTRINSIC
low complexity region 586 601 N/A INTRINSIC
transmembrane domain 621 643 N/A INTRINSIC
low complexity region 666 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106732
AA Change: P603T

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102343
Gene: ENSMUSG00000028613
AA Change: P603T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LDLa 40 77 3.24e-13 SMART
EGF_like 79 117 3.29e1 SMART
LDLa 79 118 2.45e-13 SMART
LDLa 120 159 1.19e-11 SMART
LDLa 164 201 4.58e-13 SMART
LDLa 204 244 1.4e-8 SMART
EGF 246 282 2.83e-5 SMART
EGF_CA 283 322 9.91e-10 SMART
LY 349 391 8.44e-4 SMART
LY 396 438 2.29e-14 SMART
LY 439 482 5.96e-13 SMART
LY 483 525 4.21e-13 SMART
LY 527 569 7.24e-3 SMART
EGF 596 642 1.56e1 SMART
low complexity region 644 660 N/A INTRINSIC
low complexity region 698 713 N/A INTRINSIC
transmembrane domain 733 755 N/A INTRINSIC
low complexity region 778 784 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106733
AA Change: P688T

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102344
Gene: ENSMUSG00000028613
AA Change: P688T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LDLa 40 77 3.24e-13 SMART
EGF_like 79 117 3.29e1 SMART
LDLa 79 118 2.45e-13 SMART
LDLa 120 159 1.19e-11 SMART
LDLa 160 197 3.52e-14 SMART
LDLa 199 239 8.09e-14 SMART
LDLa 250 288 4.05e-14 SMART
LDLa 290 327 4.58e-13 SMART
EGF 331 367 2.83e-5 SMART
EGF_CA 368 407 9.91e-10 SMART
LY 434 476 8.44e-4 SMART
LY 481 523 2.29e-14 SMART
LY 524 567 5.96e-13 SMART
LY 568 610 4.21e-13 SMART
LY 612 654 7.24e-3 SMART
EGF 681 727 1.56e1 SMART
low complexity region 729 745 N/A INTRINSIC
low complexity region 783 798 N/A INTRINSIC
transmembrane domain 818 840 N/A INTRINSIC
low complexity region 863 869 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126573
AA Change: P561T

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118020
Gene: ENSMUSG00000028613
AA Change: P561T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LDLa 40 77 3.24e-13 SMART
EGF_like 79 117 3.29e1 SMART
LDLa 79 118 2.45e-13 SMART
LDLa 120 159 1.19e-11 SMART
LDLa 163 200 4.58e-13 SMART
EGF 204 240 2.83e-5 SMART
EGF_CA 241 280 9.91e-10 SMART
LY 307 349 8.44e-4 SMART
LY 354 396 2.29e-14 SMART
LY 397 440 5.96e-13 SMART
LY 441 483 4.21e-13 SMART
LY 485 527 7.24e-3 SMART
EGF 554 600 1.56e1 SMART
transmembrane domain 616 638 N/A INTRINSIC
low complexity region 661 667 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143601
AA Change: P729T

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000115854
Gene: ENSMUSG00000028613
AA Change: P729T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LDLa 40 77 3.24e-13 SMART
EGF_like 79 117 3.29e1 SMART
LDLa 79 118 2.45e-13 SMART
LDLa 120 159 1.19e-11 SMART
LDLa 160 197 3.52e-14 SMART
LDLa 199 239 8.09e-14 SMART
LDLa 250 288 4.05e-14 SMART
LDLa 290 327 4.58e-13 SMART
LDLa 330 370 1.4e-8 SMART
EGF 372 408 2.83e-5 SMART
EGF_CA 409 448 9.91e-10 SMART
LY 475 517 8.44e-4 SMART
LY 522 564 2.29e-14 SMART
LY 565 608 5.96e-13 SMART
LY 609 651 4.21e-13 SMART
LY 653 695 7.24e-3 SMART
EGF 722 768 1.56e1 SMART
low complexity region 770 786 N/A INTRINSIC
low complexity region 824 839 N/A INTRINSIC
transmembrane domain 859 881 N/A INTRINSIC
low complexity region 904 910 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired granule cell migration, radial glial scaffold formation, contextual fear conditioning, and long-term potentiation. Mutant males have abnormal sperm and are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A G 6: 146,854,499 (GRCm39) V181A probably damaging Het
Abca16 T A 7: 120,076,993 (GRCm39) D686E probably benign Het
Abca8a C A 11: 109,953,908 (GRCm39) C844F probably damaging Het
Acd G A 8: 106,424,952 (GRCm39) P396L probably damaging Het
Adamtsl3 A G 7: 82,189,753 (GRCm39) Y659C probably damaging Het
Ankfn1 C T 11: 89,413,875 (GRCm39) V167M probably benign Het
Ankrd13c T A 3: 157,700,358 (GRCm39) L393Q possibly damaging Het
Arid1b G A 17: 5,386,879 (GRCm39) G1391D possibly damaging Het
Arid5b T A 10: 67,937,882 (GRCm39) D415V probably damaging Het
Arl13b G T 16: 62,647,774 (GRCm39) H45N probably benign Het
Atp13a4 A T 16: 29,268,797 (GRCm39) I519N Het
Atrnl1 T C 19: 57,643,420 (GRCm39) I436T probably benign Het
Bbx A G 16: 50,022,935 (GRCm39) I675T probably damaging Het
Bcas1 A T 2: 170,190,040 (GRCm39) V619E probably damaging Het
Cad T C 5: 31,218,576 (GRCm39) V501A possibly damaging Het
Car8 T A 4: 8,169,686 (GRCm39) N274I probably damaging Het
Ccdc3 A G 2: 5,146,143 (GRCm39) Q159R probably damaging Het
Ccdc7b A T 8: 129,893,459 (GRCm39) E95D possibly damaging Het
Cdh12 G T 15: 21,492,801 (GRCm39) probably benign Het
Col11a1 G T 3: 113,901,948 (GRCm39) G548* probably null Het
Cpb2 A G 14: 75,520,803 (GRCm39) E406G probably damaging Het
Crocc T C 4: 140,747,132 (GRCm39) S1723G probably benign Het
Ctu2 T C 8: 123,206,045 (GRCm39) V262A probably benign Het
Dmxl2 A T 9: 54,311,404 (GRCm39) N1772K possibly damaging Het
Dock3 A T 9: 106,774,569 (GRCm39) M62K probably benign Het
Dok7 G A 5: 35,214,239 (GRCm39) probably benign Het
E2f3 A G 13: 30,102,629 (GRCm39) Y211H probably damaging Het
Elapor2 T C 5: 9,460,699 (GRCm39) Y207H probably damaging Het
Fam53c T A 18: 34,895,774 (GRCm39) S25R probably damaging Het
Fhod3 T G 18: 25,030,681 (GRCm39) probably benign Het
Foxp4 A G 17: 48,180,033 (GRCm39) Y623H unknown Het
Ggt1 A T 10: 75,421,749 (GRCm39) H532L probably benign Het
Gm10775 A C 13: 65,407,770 (GRCm39) T24P unknown Het
Hinfp A G 9: 44,213,872 (GRCm39) S2P probably benign Het
Hs3st4 A G 7: 123,582,749 (GRCm39) T116A probably benign Het
Ighv5-9-1 A T 12: 113,699,818 (GRCm39) I98N probably damaging Het
Ipo11 A T 13: 107,046,713 (GRCm39) Y171N probably benign Het
Jph1 C A 1: 17,161,838 (GRCm39) A275S probably damaging Het
Kcnh6 C G 11: 105,924,860 (GRCm39) H941Q possibly damaging Het
Kcnh7 A T 2: 62,618,097 (GRCm39) I464K probably damaging Het
Man1c1 C A 4: 134,291,118 (GRCm39) D593Y probably damaging Het
Mdm4 A T 1: 132,929,169 (GRCm39) I176K possibly damaging Het
Mpo T C 11: 87,686,693 (GRCm39) V139A probably benign Het
Niban3 A C 8: 72,055,520 (GRCm39) D310A probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Or1f12 A G 13: 21,721,864 (GRCm39) S89P possibly damaging Het
Or4k51 G A 2: 111,584,965 (GRCm39) V124M probably damaging Het
Or9g4b A T 2: 85,616,088 (GRCm39) I78L probably benign Het
Pcdh7 A G 5: 57,878,779 (GRCm39) D778G possibly damaging Het
Pcdhb12 T C 18: 37,570,675 (GRCm39) F607S probably damaging Het
Pcolce A G 5: 137,606,333 (GRCm39) F157L probably benign Het
Pogk T C 1: 166,226,780 (GRCm39) Y457C probably damaging Het
Ppp1r21 G A 17: 88,866,086 (GRCm39) E323K possibly damaging Het
Prkn T A 17: 11,456,527 (GRCm39) V117E probably damaging Het
Prr12 A C 7: 44,692,811 (GRCm39) F1574V probably damaging Het
Rasl2-9 A T 7: 5,128,448 (GRCm39) F161I probably damaging Het
Rb1 A G 14: 73,517,602 (GRCm39) I268T possibly damaging Het
Rin3 A T 12: 102,335,691 (GRCm39) D534V probably damaging Het
Scn5a C T 9: 119,315,717 (GRCm39) G1664S probably damaging Het
Sin3b T C 8: 73,471,168 (GRCm39) S372P probably benign Het
Snx32 T A 19: 5,548,485 (GRCm39) H65L probably damaging Het
Spidr T A 16: 15,855,544 (GRCm39) I324F probably damaging Het
Stab1 A T 14: 30,867,298 (GRCm39) F1687L probably benign Het
Taar6 T C 10: 23,860,903 (GRCm39) I214M probably benign Het
Vmn2r105 T A 17: 20,447,685 (GRCm39) N380Y probably damaging Het
Other mutations in Lrp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Lrp8 APN 4 107,721,273 (GRCm39) missense probably benign 0.04
IGL01514:Lrp8 APN 4 107,712,881 (GRCm39) missense probably damaging 1.00
IGL02058:Lrp8 APN 4 107,727,306 (GRCm39) missense probably benign 0.25
IGL02398:Lrp8 APN 4 107,726,245 (GRCm39) missense probably damaging 1.00
IGL02398:Lrp8 APN 4 107,704,691 (GRCm39) missense probably damaging 0.97
IGL02706:Lrp8 APN 4 107,660,516 (GRCm39) nonsense probably null
IGL02754:Lrp8 APN 4 107,691,952 (GRCm39) splice site probably null
IGL02967:Lrp8 APN 4 107,718,431 (GRCm39) missense probably benign 0.21
IGL03080:Lrp8 APN 4 107,712,996 (GRCm39) missense probably damaging 1.00
IGL02837:Lrp8 UTSW 4 107,718,478 (GRCm39) missense probably benign 0.01
R0312:Lrp8 UTSW 4 107,664,052 (GRCm39) intron probably benign
R0440:Lrp8 UTSW 4 107,726,295 (GRCm39) missense probably damaging 0.99
R0598:Lrp8 UTSW 4 107,714,434 (GRCm39) missense possibly damaging 0.73
R1627:Lrp8 UTSW 4 107,711,613 (GRCm39) missense probably damaging 0.99
R1967:Lrp8 UTSW 4 107,717,168 (GRCm39) missense probably damaging 1.00
R2183:Lrp8 UTSW 4 107,660,462 (GRCm39) missense probably damaging 1.00
R2208:Lrp8 UTSW 4 107,712,987 (GRCm39) missense probably damaging 1.00
R2325:Lrp8 UTSW 4 107,721,206 (GRCm39) missense probably benign 0.03
R3712:Lrp8 UTSW 4 107,705,499 (GRCm39) missense probably benign 0.08
R4093:Lrp8 UTSW 4 107,700,468 (GRCm39) nonsense probably null
R4706:Lrp8 UTSW 4 107,718,470 (GRCm39) missense probably benign 0.00
R4765:Lrp8 UTSW 4 107,711,592 (GRCm39) missense probably damaging 1.00
R4840:Lrp8 UTSW 4 107,727,234 (GRCm39) missense possibly damaging 0.79
R4900:Lrp8 UTSW 4 107,664,006 (GRCm39) intron probably benign
R5033:Lrp8 UTSW 4 107,691,952 (GRCm39) splice site probably null
R5280:Lrp8 UTSW 4 107,711,518 (GRCm39) missense probably damaging 1.00
R5381:Lrp8 UTSW 4 107,726,307 (GRCm39) missense probably damaging 1.00
R5935:Lrp8 UTSW 4 107,714,493 (GRCm39) missense probably damaging 1.00
R5972:Lrp8 UTSW 4 107,726,267 (GRCm39) missense probably damaging 1.00
R6076:Lrp8 UTSW 4 107,704,656 (GRCm39) missense possibly damaging 0.81
R6343:Lrp8 UTSW 4 107,726,353 (GRCm39) splice site probably null
R6805:Lrp8 UTSW 4 107,711,517 (GRCm39) missense probably damaging 0.99
R7100:Lrp8 UTSW 4 107,659,647 (GRCm39) missense possibly damaging 0.93
R7262:Lrp8 UTSW 4 107,704,661 (GRCm39) missense probably benign
R7717:Lrp8 UTSW 4 107,691,940 (GRCm39) missense probably benign 0.00
R7949:Lrp8 UTSW 4 107,660,524 (GRCm39) missense probably damaging 1.00
R8350:Lrp8 UTSW 4 107,704,661 (GRCm39) missense probably benign
R8371:Lrp8 UTSW 4 107,726,268 (GRCm39) missense probably damaging 1.00
R9461:Lrp8 UTSW 4 107,700,515 (GRCm39) missense possibly damaging 0.93
R9567:Lrp8 UTSW 4 107,711,469 (GRCm39) missense probably damaging 0.99
Z1177:Lrp8 UTSW 4 107,700,529 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GGACCGTAATACCCACTTCTCAG -3'
(R):5'- TGGAGCATACTGTGTCCTGG -3'

Sequencing Primer
(F):5'- AAGTCCCAAGTACTATGCTGG -3'
(R):5'- CATACTGTGTCCTGGGAGGC -3'
Posted On 2022-03-25