Incidental Mutation 'IGL02967:Lrp8'
ID365631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrp8
Ensembl Gene ENSMUSG00000028613
Gene Namelow density lipoprotein receptor-related protein 8, apolipoprotein e receptor
SynonymsLr8b, 4932703M08Rik, apoER2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.656) question?
Stock #IGL02967
Quality Score
Status
Chromosome4
Chromosomal Location107802261-107876840 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 107861234 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 678 (Q678K)
Ref Sequence ENSEMBL: ENSMUSP00000102343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030356] [ENSMUST00000106732] [ENSMUST00000106733] [ENSMUST00000126573] [ENSMUST00000143601]
Predicted Effect probably benign
Transcript: ENSMUST00000030356
AA Change: Q763K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030356
Gene: ENSMUSG00000028613
AA Change: Q763K

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: Q565K
SMART Domains Protein: ENSMUSP00000102342
Gene: ENSMUSG00000028613
AA Change: Q565K

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: Q678K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102343
Gene: ENSMUSG00000028613
AA Change: Q678K

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: Q763K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102344
Gene: ENSMUSG00000028613
AA Change: Q763K

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 benign
Transcript: ENSMUST00000126573
SMART Domains Protein: ENSMUSP00000118020
Gene: ENSMUSG00000028613

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 benign
Transcript: ENSMUST00000143601
AA Change: Q804K

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115854
Gene: ENSMUSG00000028613
AA Change: Q804K

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,291 T3455A probably damaging Het
Abca8a G A 11: 110,050,936 P1169L probably damaging Het
Ablim3 T A 18: 61,826,503 K272* probably null Het
Acin1 A G 14: 54,642,753 V574A possibly damaging Het
Acot4 A T 12: 84,043,461 I311L probably benign Het
Akap9 C T 5: 3,976,164 A1273V probably benign Het
Ap1g2 T A 14: 55,105,022 probably benign Het
Apob A T 12: 8,015,366 K4112* probably null Het
Aspdh A G 7: 44,465,539 probably null Het
Atf7ip T C 6: 136,606,727 I1252T probably damaging Het
Avpr1a A G 10: 122,449,462 T220A possibly damaging Het
Bdp1 A G 13: 100,042,270 F1856S possibly damaging Het
Btbd11 A G 10: 85,633,782 T856A probably benign Het
Cit A T 5: 115,945,837 N743I probably benign Het
Clvs2 T C 10: 33,595,788 K174E probably damaging Het
Cyp4f40 A T 17: 32,674,248 Q351L probably damaging Het
Dmbt1 G T 7: 131,071,189 V550L possibly damaging Het
Edem1 T G 6: 108,836,777 S178A probably damaging Het
Fam222b C T 11: 78,154,108 A165V probably benign Het
Fer T C 17: 63,896,267 V64A possibly damaging Het
Fggy T G 4: 95,926,749 F535C possibly damaging Het
Fkbp15 A T 4: 62,304,390 S1091T probably damaging Het
Fstl5 G A 3: 76,322,191 V100M probably damaging Het
Fut7 G T 2: 25,425,143 V91L probably damaging Het
Gemin4 A T 11: 76,212,241 C565S probably damaging Het
Gzmm C T 10: 79,695,063 T233I possibly damaging Het
Hps5 A T 7: 46,769,380 L789Q possibly damaging Het
Krt32 G A 11: 100,084,050 S357F possibly damaging Het
Lrig2 C T 3: 104,494,196 probably benign Het
Mmp27 C A 9: 7,571,590 Q45K probably benign Het
Myh1 A G 11: 67,209,070 D602G possibly damaging Het
Ncoa1 G T 12: 4,295,294 H684Q probably damaging Het
Nol9 T C 4: 152,041,102 V170A possibly damaging Het
Notch2 A G 3: 98,146,144 D2041G probably damaging Het
Nrg3 G T 14: 38,668,299 probably benign Het
Nuak1 T A 10: 84,440,221 H46L probably damaging Het
Pdzd2 G T 15: 12,374,341 Q1903K probably benign Het
Pik3c2g T C 6: 139,967,828 V616A probably damaging Het
Ppp6c A G 2: 39,226,217 Y9H probably damaging Het
Prdm11 A T 2: 93,012,889 F75Y probably damaging Het
Prelid1 G A 13: 55,324,406 V132I probably benign Het
Prom1 A G 5: 44,044,398 S227P probably damaging Het
Psmb5 G A 14: 54,616,626 R132C probably benign Het
Pus10 A G 11: 23,718,602 N360D probably damaging Het
Pygm G A 19: 6,393,838 V610M probably damaging Het
Setd1a A G 7: 127,785,177 probably benign Het
Sfmbt1 T A 14: 30,816,802 W793R probably damaging Het
Slc25a4 A G 8: 46,209,150 L157P probably damaging Het
Sost T G 11: 101,964,258 E75A possibly damaging Het
Tdrd9 A G 12: 111,992,488 S119G possibly damaging Het
Tepsin A G 11: 120,094,128 I238T probably benign Het
Tfr2 T A 5: 137,582,819 L507* probably null Het
Tmem106a T C 11: 101,586,295 I110T possibly damaging Het
Tmem38a A T 8: 72,586,082 D298V possibly damaging Het
Tmprss12 A T 15: 100,285,381 R201S probably benign Het
Ugt2b36 T C 5: 87,090,900 T271A possibly damaging Het
Virma T G 4: 11,514,096 V650G probably benign Het
Vmn1r220 A T 13: 23,183,992 I178N probably damaging Het
Zfp609 A G 9: 65,697,619 S1276P possibly damaging Het
Zfp809 A G 9: 22,235,102 Y29C probably damaging Het
Other mutations in Lrp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Lrp8 APN 4 107864076 missense probably benign 0.04
IGL01514:Lrp8 APN 4 107855684 missense probably damaging 1.00
IGL02058:Lrp8 APN 4 107870109 missense probably benign 0.25
IGL02398:Lrp8 APN 4 107847494 missense probably damaging 0.97
IGL02398:Lrp8 APN 4 107869048 missense probably damaging 1.00
IGL02706:Lrp8 APN 4 107803319 nonsense probably null
IGL02754:Lrp8 APN 4 107834755 splice site probably null
IGL03080:Lrp8 APN 4 107855799 missense probably damaging 1.00
IGL02837:Lrp8 UTSW 4 107861281 missense probably benign 0.01
R0312:Lrp8 UTSW 4 107806855 intron probably benign
R0440:Lrp8 UTSW 4 107869098 missense probably damaging 0.99
R0598:Lrp8 UTSW 4 107857237 missense possibly damaging 0.73
R1627:Lrp8 UTSW 4 107854416 missense probably damaging 0.99
R1967:Lrp8 UTSW 4 107859971 missense probably damaging 1.00
R2183:Lrp8 UTSW 4 107803265 missense probably damaging 1.00
R2208:Lrp8 UTSW 4 107855790 missense probably damaging 1.00
R2325:Lrp8 UTSW 4 107864009 missense probably benign 0.03
R3712:Lrp8 UTSW 4 107848302 missense probably benign 0.08
R4093:Lrp8 UTSW 4 107843271 nonsense probably null
R4706:Lrp8 UTSW 4 107861273 missense probably benign 0.00
R4765:Lrp8 UTSW 4 107854395 missense probably damaging 1.00
R4840:Lrp8 UTSW 4 107870037 missense possibly damaging 0.79
R4900:Lrp8 UTSW 4 107806809 intron probably benign
R5033:Lrp8 UTSW 4 107834755 splice site probably null
R5280:Lrp8 UTSW 4 107854321 missense probably damaging 1.00
R5381:Lrp8 UTSW 4 107869110 missense probably damaging 1.00
R5935:Lrp8 UTSW 4 107857296 missense probably damaging 1.00
R5972:Lrp8 UTSW 4 107869070 missense probably damaging 1.00
R6076:Lrp8 UTSW 4 107847459 missense possibly damaging 0.81
R6343:Lrp8 UTSW 4 107869156 splice site probably null
R6805:Lrp8 UTSW 4 107854320 missense probably damaging 0.99
R7100:Lrp8 UTSW 4 107802450 missense possibly damaging 0.93
R7262:Lrp8 UTSW 4 107847464 missense probably benign
R7717:Lrp8 UTSW 4 107834743 missense probably benign 0.00
Posted On2015-12-18