Incidental Mutation 'IGL01514:Lrp8'
ID 89305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrp8
Ensembl Gene ENSMUSG00000028613
Gene Name low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
Synonyms 4932703M08Rik, Lr8b, apoER2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # IGL01514
Quality Score
Status
Chromosome 4
Chromosomal Location 107659337-107734037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107712881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 377 (Y377H)
Ref Sequence ENSEMBL: ENSMUSP00000118020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030356] [ENSMUST00000106732] [ENSMUST00000106733] [ENSMUST00000126573] [ENSMUST00000143601]
AlphaFold Q924X6
Predicted Effect probably damaging
Transcript: ENSMUST00000030356
AA Change: Y504H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030356
Gene: ENSMUSG00000028613
AA Change: Y504H

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 unknown
Transcript: ENSMUST00000106731
AA Change: Y306H
SMART Domains Protein: ENSMUSP00000102342
Gene: ENSMUSG00000028613
AA Change: Y306H

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 damaging
Transcript: ENSMUST00000106732
AA Change: Y419H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102343
Gene: ENSMUSG00000028613
AA Change: Y419H

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 damaging
Transcript: ENSMUST00000106733
AA Change: Y504H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102344
Gene: ENSMUSG00000028613
AA Change: Y504H

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 noncoding transcript
Transcript: ENSMUST00000123140
Predicted Effect probably damaging
Transcript: ENSMUST00000126573
AA Change: Y377H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118020
Gene: ENSMUSG00000028613
AA Change: Y377H

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 noncoding transcript
Transcript: ENSMUST00000135022
Predicted Effect probably damaging
Transcript: ENSMUST00000143601
AA Change: Y545H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115854
Gene: ENSMUSG00000028613
AA Change: Y545H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147319
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,669,587 (GRCm39) probably benign Het
Actl7b T C 4: 56,740,677 (GRCm39) Y227C probably damaging Het
Adam26a A T 8: 44,021,485 (GRCm39) H668Q probably benign Het
Alcam A T 16: 52,094,653 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,144,624 (GRCm39) probably benign Het
Atp11b G T 3: 35,891,130 (GRCm39) G801V probably damaging Het
C3 G A 17: 57,522,866 (GRCm39) T1006I probably benign Het
Cacna2d4 T C 6: 119,259,134 (GRCm39) probably benign Het
Cldn34b3 A T X: 75,310,680 (GRCm39) I83F probably damaging Het
Clec2g G A 6: 128,925,736 (GRCm39) M48I probably benign Het
Coch A G 12: 51,650,136 (GRCm39) D375G probably damaging Het
Erbb2 C T 11: 98,323,745 (GRCm39) T653I possibly damaging Het
Etv3 A G 3: 87,443,025 (GRCm39) H203R possibly damaging Het
Fat4 A G 3: 39,003,683 (GRCm39) R1801G possibly damaging Het
Gars1 T A 6: 55,042,505 (GRCm39) S413T probably benign Het
Gnat1 G A 9: 107,553,500 (GRCm39) R253C possibly damaging Het
Hook3 A T 8: 26,578,217 (GRCm39) L91I possibly damaging Het
Lztr1 G A 16: 17,340,255 (GRCm39) probably null Het
Malt1 A G 18: 65,609,471 (GRCm39) D825G possibly damaging Het
Nlrp9b T C 7: 19,779,859 (GRCm39) probably null Het
Or1x2 C T 11: 50,918,416 (GRCm39) R196* probably null Het
Or2v2 A T 11: 49,004,403 (GRCm39) I50N probably damaging Het
Orc1 A G 4: 108,459,249 (GRCm39) R473G probably damaging Het
Pard6g G A 18: 80,160,661 (GRCm39) R258H probably damaging Het
Pkdrej T C 15: 85,702,264 (GRCm39) D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 (GRCm39) T18A probably benign Het
Pycr3 T C 15: 75,788,853 (GRCm39) T240A probably damaging Het
Ralgapa1 C A 12: 55,766,442 (GRCm39) G1284V probably damaging Het
Rcl1 T C 19: 29,120,698 (GRCm39) probably benign Het
Sec24c C T 14: 20,732,839 (GRCm39) T134I possibly damaging Het
Sis A G 3: 72,843,253 (GRCm39) probably benign Het
Susd5 A C 9: 113,897,947 (GRCm39) probably benign Het
Tlk1 T C 2: 70,582,610 (GRCm39) N173S probably benign Het
Uroc1 T C 6: 90,340,082 (GRCm39) probably benign Het
Other mutations in Lrp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Lrp8 APN 4 107,721,273 (GRCm39) missense probably benign 0.04
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
R9272:Lrp8 UTSW 4 107,717,158 (GRCm39) missense probably benign 0.19
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
Posted On 2013-12-03