Incidental Mutation 'R7348:Lrp6'
ID 570347
Institutional Source Beutler Lab
Gene Symbol Lrp6
Ensembl Gene ENSMUSG00000030201
Gene Name low density lipoprotein receptor-related protein 6
Synonyms ska, Cd, skax26, ska26
MMRRC Submission 045380-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R7348 (G1)
Quality Score 158.009
Status Validated
Chromosome 6
Chromosomal Location 134423439-134543876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 134427781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 1604 (P1604T)
Ref Sequence ENSEMBL: ENSMUSP00000032322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032322]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032322
AA Change: P1604T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: P1604T

DomainStartEndE-ValueType
LY 43 85 1.55e-2 SMART
LY 87 129 1.91e-11 SMART
LY 130 173 5.19e-13 SMART
LY 174 216 1.39e-13 SMART
LY 217 258 2.87e-6 SMART
EGF 285 324 2.16e-1 SMART
low complexity region 330 341 N/A INTRINSIC
LY 352 394 1.29e-8 SMART
LY 395 437 5.73e-15 SMART
LY 438 481 1.07e-14 SMART
LY 482 524 3.07e-15 SMART
LY 525 565 4.66e-6 SMART
EGF 591 628 1.47e-3 SMART
LY 654 696 2.06e-7 SMART
LY 697 739 3.73e-14 SMART
LY 740 783 3.37e-12 SMART
LY 784 825 1.17e-6 SMART
LY 827 865 1.91e-2 SMART
EGF 892 930 7.35e-4 SMART
LY 957 999 1.41e-5 SMART
LY 1005 1048 5.32e-1 SMART
LY 1049 1093 5e-6 SMART
LY 1094 1136 4.25e-9 SMART
LY 1137 1177 1.91e-2 SMART
EGF 1206 1250 1.23e1 SMART
LDLa 1248 1287 2.42e-12 SMART
LDLa 1288 1324 4.37e-10 SMART
LDLa 1325 1362 1.66e-10 SMART
transmembrane domain 1371 1393 N/A INTRINSIC
low complexity region 1429 1438 N/A INTRINSIC
low complexity region 1444 1457 N/A INTRINSIC
low complexity region 1508 1524 N/A INTRINSIC
low complexity region 1566 1573 N/A INTRINSIC
low complexity region 1596 1608 N/A INTRINSIC
Meta Mutation Damage Score 0.1468 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 99% (80/81)
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 (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]
PHENOTYPE: Animals homozygous for this mutation exhibit partial embryonic lethality, growth retardation, crooked tail, abnormal vertebrae, small skull with occasional bent nose, absence of the third molars and small and/or unerupted lower incisors. Heterozygotes exhibit a crooked tail and abnormal vertebrae. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra G A 15: 41,729,555 (GRCm39) R282C probably damaging Het
Adcy2 T A 13: 68,882,794 (GRCm39) E314D possibly damaging Het
Adgrl2 A T 3: 148,523,402 (GRCm39) I274N Het
Adpgk A G 9: 59,221,069 (GRCm39) I292V probably benign Het
Agtrap G T 4: 148,165,054 (GRCm39) F124L probably benign Het
Ankrd26 A G 6: 118,485,525 (GRCm39) Y1450H probably damaging Het
Ap4e1 A T 2: 126,903,896 (GRCm39) S933C probably damaging Het
Ap4e1 G T 2: 126,903,897 (GRCm39) S933I possibly damaging Het
Ap5s1 A T 2: 131,054,572 (GRCm39) T128S possibly damaging Het
Arih1 T C 9: 59,393,341 (GRCm39) Y97C probably damaging Het
Atp1a3 A G 7: 24,678,251 (GRCm39) F1034S unknown Het
Bmp6 T C 13: 38,669,879 (GRCm39) S388P probably benign Het
Ccdc39 A G 3: 33,886,825 (GRCm39) V261A possibly damaging Het
Ccdc66 C T 14: 27,222,293 (GRCm39) C150Y probably damaging Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cln6 A G 9: 62,756,458 (GRCm39) S201G probably benign Het
Cntnap4 T C 8: 113,391,909 (GRCm39) Y125H probably damaging Het
Copa A G 1: 171,929,790 (GRCm39) T286A possibly damaging Het
Cul9 A T 17: 46,821,919 (GRCm39) I1852K possibly damaging Het
Cyp2j8 C A 4: 96,332,877 (GRCm39) A490S probably benign Het
Cyp2t4 A G 7: 26,856,676 (GRCm39) I239V probably benign Het
Dpcd A G 19: 45,560,905 (GRCm39) Y111C probably damaging Het
E2f7 C T 10: 110,616,836 (GRCm39) T692I probably damaging Het
Fastkd5 A G 2: 130,457,055 (GRCm39) Y512H probably damaging Het
Fastkd5 A C 2: 130,458,359 (GRCm39) M77R probably benign Het
Fhod3 A G 18: 25,223,524 (GRCm39) R957G possibly damaging Het
H6pd C A 4: 150,068,359 (GRCm39) probably null Het
Haus5 G T 7: 30,356,391 (GRCm39) P544Q possibly damaging Het
Ifi207 CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG 1: 173,556,762 (GRCm39) probably benign Het
Igf2r A G 17: 12,922,371 (GRCm39) Y1248H probably damaging Het
Izumo3 T C 4: 92,035,455 (GRCm39) N6S possibly damaging Het
Map3k8 T A 18: 4,340,561 (GRCm39) H251L probably damaging Het
Mapre3 T C 5: 31,019,173 (GRCm39) Y6H probably benign Het
Mlh3 G T 12: 85,314,215 (GRCm39) P657Q probably damaging Het
Mrgpra1 T C 7: 46,985,157 (GRCm39) Y174C probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myh1 C A 11: 67,093,365 (GRCm39) P152Q probably damaging Het
Myh6 A T 14: 55,189,716 (GRCm39) L1110Q probably damaging Het
Nf1 T A 11: 79,427,676 (GRCm39) S1778T probably benign Het
Nkpd1 G A 7: 19,258,341 (GRCm39) E707K probably damaging Het
Nlrp4a A G 7: 26,143,698 (GRCm39) E21G probably damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Or2f1 T C 6: 42,721,790 (GRCm39) L273S possibly damaging Het
Or5p1 T C 7: 107,916,920 (GRCm39) V273A possibly damaging Het
Or5p64 T C 7: 107,855,330 (GRCm39) D5G probably benign Het
Or7a38 A G 10: 78,753,396 (GRCm39) T241A probably damaging Het
Parg G A 14: 31,972,036 (GRCm39) R677Q possibly damaging Het
Pcsk5 A T 19: 17,434,182 (GRCm39) C1395* probably null Het
Psd2 G A 18: 36,113,389 (GRCm39) S287N possibly damaging Het
Psd3 T C 8: 68,243,583 (GRCm39) N685S possibly damaging Het
Pygb C T 2: 150,628,903 (GRCm39) T39M probably benign Het
Rbfox1 C A 16: 7,225,888 (GRCm39) Y351* probably null Het
Rftn1 A G 17: 50,311,351 (GRCm39) L396P probably damaging Het
S1pr1 A G 3: 115,505,710 (GRCm39) Y295H probably damaging Het
Scn5a T C 9: 119,364,899 (GRCm39) M440V probably benign Het
Sel1l2 T C 2: 140,107,644 (GRCm39) N240S probably benign Het
Skic3 T C 13: 76,331,003 (GRCm39) F1478L possibly damaging Het
Skint1 T C 4: 111,878,770 (GRCm39) L234P probably damaging Het
Skint11 T A 4: 114,101,919 (GRCm39) Y311N probably benign Het
Slc6a5 A T 7: 49,559,915 (GRCm39) probably benign Het
Tas2r134 T C 2: 51,518,414 (GRCm39) S298P possibly damaging Het
Tbcd C A 11: 121,485,137 (GRCm39) A773D probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tmem184a T C 5: 139,799,809 (GRCm39) E24G probably null Het
Tmem207 C A 16: 26,335,577 (GRCm39) W53C possibly damaging Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Ttc41 G T 10: 86,586,212 (GRCm39) E839* probably null Het
Ufd1 T G 16: 18,634,635 (GRCm39) probably benign Het
Usp28 A G 9: 48,942,177 (GRCm39) E713G probably benign Het
Utrn A G 10: 12,623,762 (GRCm39) W159R probably damaging Het
Vcl C T 14: 21,053,218 (GRCm39) A411V probably benign Het
Vcl T A 14: 21,059,020 (GRCm39) C545* probably null Het
Vmn1r120 A T 7: 20,787,377 (GRCm39) S111R probably damaging Het
Wwox T A 8: 115,199,392 (GRCm39) C146S probably benign Het
Zbtb2 T C 10: 4,324,574 (GRCm39) T57A possibly damaging Het
Zfp362 T C 4: 128,671,010 (GRCm39) D336G possibly damaging Het
Zfp628 G A 7: 4,924,817 (GRCm39) G1013E probably damaging Het
Zfp704 A G 3: 9,539,658 (GRCm39) S231P probably damaging Het
Zhx3 G T 2: 160,624,038 (GRCm39) S43* probably null Het
Other mutations in Lrp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Lrp6 APN 6 134,433,053 (GRCm39) missense probably benign 0.17
IGL00765:Lrp6 APN 6 134,518,817 (GRCm39) missense probably benign 0.02
IGL00898:Lrp6 APN 6 134,456,702 (GRCm39) missense probably damaging 0.99
IGL00916:Lrp6 APN 6 134,461,252 (GRCm39) missense probably damaging 1.00
IGL00961:Lrp6 APN 6 134,484,609 (GRCm39) missense probably damaging 0.98
IGL01620:Lrp6 APN 6 134,488,225 (GRCm39) missense probably damaging 1.00
IGL01765:Lrp6 APN 6 134,433,108 (GRCm39) missense probably damaging 0.99
IGL02066:Lrp6 APN 6 134,427,900 (GRCm39) nonsense probably null
IGL02067:Lrp6 APN 6 134,457,359 (GRCm39) missense probably damaging 0.99
IGL02169:Lrp6 APN 6 134,490,290 (GRCm39) missense probably damaging 0.96
IGL02281:Lrp6 APN 6 134,434,697 (GRCm39) missense probably benign 0.40
IGL02484:Lrp6 APN 6 134,518,886 (GRCm39) missense probably benign 0.15
IGL02724:Lrp6 APN 6 134,461,228 (GRCm39) missense probably damaging 1.00
IGL02876:Lrp6 APN 6 134,433,077 (GRCm39) missense probably benign 0.43
IGL03011:Lrp6 APN 6 134,497,380 (GRCm39) missense possibly damaging 0.80
IGL03352:Lrp6 APN 6 134,456,726 (GRCm39) missense probably damaging 1.00
Aileron UTSW 6 134,439,579 (GRCm39) missense probably damaging 1.00
Cielo UTSW 6 134,484,624 (GRCm39) nonsense probably null
Coiled UTSW 6 134,484,521 (GRCm39) nonsense probably null
flap UTSW 6 134,463,549 (GRCm39) missense probably damaging 0.99
soar UTSW 6 134,488,169 (GRCm39) missense probably damaging 0.97
Swoop UTSW 6 134,463,504 (GRCm39) missense possibly damaging 0.94
Upswing UTSW 6 134,441,414 (GRCm39) missense probably damaging 0.99
Wingman UTSW 6 134,434,705 (GRCm39) missense probably damaging 1.00
BB004:Lrp6 UTSW 6 134,497,513 (GRCm39) missense probably damaging 1.00
BB014:Lrp6 UTSW 6 134,497,513 (GRCm39) missense probably damaging 1.00
PIT4494001:Lrp6 UTSW 6 134,456,741 (GRCm39) missense probably damaging 1.00
R0008:Lrp6 UTSW 6 134,462,716 (GRCm39) missense probably damaging 0.96
R0008:Lrp6 UTSW 6 134,462,716 (GRCm39) missense probably damaging 0.96
R0201:Lrp6 UTSW 6 134,427,860 (GRCm39) nonsense probably null
R0295:Lrp6 UTSW 6 134,434,656 (GRCm39) missense probably benign 0.02
R0370:Lrp6 UTSW 6 134,456,729 (GRCm39) missense probably damaging 1.00
R0382:Lrp6 UTSW 6 134,444,631 (GRCm39) missense probably damaging 1.00
R0413:Lrp6 UTSW 6 134,484,587 (GRCm39) missense probably damaging 0.99
R0468:Lrp6 UTSW 6 134,462,624 (GRCm39) missense possibly damaging 0.94
R0492:Lrp6 UTSW 6 134,457,481 (GRCm39) missense possibly damaging 0.58
R0584:Lrp6 UTSW 6 134,433,039 (GRCm39) missense probably damaging 0.99
R0631:Lrp6 UTSW 6 134,456,738 (GRCm39) missense possibly damaging 0.95
R0738:Lrp6 UTSW 6 134,519,008 (GRCm39) missense probably benign 0.13
R0907:Lrp6 UTSW 6 134,484,488 (GRCm39) missense probably damaging 0.96
R1273:Lrp6 UTSW 6 134,444,470 (GRCm39) critical splice donor site probably null
R1548:Lrp6 UTSW 6 134,436,392 (GRCm39) missense possibly damaging 0.89
R1639:Lrp6 UTSW 6 134,430,529 (GRCm39) missense possibly damaging 0.68
R1650:Lrp6 UTSW 6 134,445,732 (GRCm39) missense probably benign 0.01
R1696:Lrp6 UTSW 6 134,445,686 (GRCm39) missense probably damaging 1.00
R1751:Lrp6 UTSW 6 134,441,531 (GRCm39) missense probably damaging 1.00
R1780:Lrp6 UTSW 6 134,441,414 (GRCm39) missense probably damaging 0.99
R2013:Lrp6 UTSW 6 134,457,337 (GRCm39) critical splice donor site probably null
R2015:Lrp6 UTSW 6 134,457,337 (GRCm39) critical splice donor site probably null
R2165:Lrp6 UTSW 6 134,436,246 (GRCm39) missense probably damaging 1.00
R2294:Lrp6 UTSW 6 134,434,705 (GRCm39) missense probably damaging 1.00
R2336:Lrp6 UTSW 6 134,484,546 (GRCm39) missense probably damaging 0.97
R2964:Lrp6 UTSW 6 134,444,489 (GRCm39) missense probably damaging 1.00
R3716:Lrp6 UTSW 6 134,484,410 (GRCm39) missense probably damaging 1.00
R4017:Lrp6 UTSW 6 134,497,513 (GRCm39) missense probably damaging 1.00
R4370:Lrp6 UTSW 6 134,483,321 (GRCm39) nonsense probably null
R4521:Lrp6 UTSW 6 134,462,825 (GRCm39) missense probably damaging 1.00
R4573:Lrp6 UTSW 6 134,447,693 (GRCm39) nonsense probably null
R4645:Lrp6 UTSW 6 134,461,213 (GRCm39) missense probably damaging 1.00
R4661:Lrp6 UTSW 6 134,488,230 (GRCm39) missense probably benign
R4688:Lrp6 UTSW 6 134,456,706 (GRCm39) missense probably damaging 1.00
R4784:Lrp6 UTSW 6 134,456,502 (GRCm39) missense probably benign 0.06
R5236:Lrp6 UTSW 6 134,488,227 (GRCm39) missense probably damaging 1.00
R5506:Lrp6 UTSW 6 134,436,259 (GRCm39) missense probably benign 0.09
R5508:Lrp6 UTSW 6 134,441,479 (GRCm39) missense probably benign 0.31
R6001:Lrp6 UTSW 6 134,441,481 (GRCm39) missense probably benign 0.03
R6319:Lrp6 UTSW 6 134,518,798 (GRCm39) missense possibly damaging 0.46
R6537:Lrp6 UTSW 6 134,457,458 (GRCm39) missense probably benign
R6552:Lrp6 UTSW 6 134,431,692 (GRCm39) missense probably benign 0.17
R6559:Lrp6 UTSW 6 134,490,217 (GRCm39) missense probably damaging 1.00
R6575:Lrp6 UTSW 6 134,518,934 (GRCm39) missense possibly damaging 0.80
R6585:Lrp6 UTSW 6 134,484,521 (GRCm39) nonsense probably null
R6700:Lrp6 UTSW 6 134,456,523 (GRCm39) missense probably damaging 1.00
R6724:Lrp6 UTSW 6 134,463,504 (GRCm39) missense possibly damaging 0.94
R7159:Lrp6 UTSW 6 134,484,514 (GRCm39) missense probably benign
R7266:Lrp6 UTSW 6 134,484,364 (GRCm39) missense probably damaging 1.00
R7339:Lrp6 UTSW 6 134,427,781 (GRCm39) missense probably damaging 1.00
R7341:Lrp6 UTSW 6 134,427,781 (GRCm39) missense probably damaging 1.00
R7342:Lrp6 UTSW 6 134,427,781 (GRCm39) missense probably damaging 1.00
R7359:Lrp6 UTSW 6 134,427,923 (GRCm39) nonsense probably null
R7366:Lrp6 UTSW 6 134,427,781 (GRCm39) missense probably damaging 1.00
R7368:Lrp6 UTSW 6 134,427,781 (GRCm39) missense probably damaging 1.00
R7501:Lrp6 UTSW 6 134,463,471 (GRCm39) missense probably damaging 1.00
R7548:Lrp6 UTSW 6 134,484,471 (GRCm39) missense probably damaging 0.97
R7652:Lrp6 UTSW 6 134,488,208 (GRCm39) nonsense probably null
R7771:Lrp6 UTSW 6 134,439,579 (GRCm39) missense probably damaging 1.00
R7927:Lrp6 UTSW 6 134,497,513 (GRCm39) missense probably damaging 1.00
R8717:Lrp6 UTSW 6 134,434,711 (GRCm39) missense probably benign 0.41
R8726:Lrp6 UTSW 6 134,484,624 (GRCm39) nonsense probably null
R8792:Lrp6 UTSW 6 134,463,549 (GRCm39) missense probably damaging 0.99
R8812:Lrp6 UTSW 6 134,433,141 (GRCm39) missense probably benign
R8855:Lrp6 UTSW 6 134,445,785 (GRCm39) missense probably benign 0.04
R8866:Lrp6 UTSW 6 134,445,785 (GRCm39) missense probably benign 0.04
R8994:Lrp6 UTSW 6 134,518,656 (GRCm39) missense probably benign
R9021:Lrp6 UTSW 6 134,518,930 (GRCm39) missense probably benign 0.00
R9089:Lrp6 UTSW 6 134,488,169 (GRCm39) missense probably damaging 0.97
R9154:Lrp6 UTSW 6 134,518,855 (GRCm39) missense probably damaging 1.00
R9263:Lrp6 UTSW 6 134,457,467 (GRCm39) missense probably damaging 1.00
R9287:Lrp6 UTSW 6 134,483,259 (GRCm39) missense probably benign 0.21
R9545:Lrp6 UTSW 6 134,483,329 (GRCm39) missense probably damaging 1.00
R9574:Lrp6 UTSW 6 134,447,662 (GRCm39) missense possibly damaging 0.90
R9640:Lrp6 UTSW 6 134,441,414 (GRCm39) missense probably damaging 0.99
Z1176:Lrp6 UTSW 6 134,433,120 (GRCm39) missense possibly damaging 0.72
Z1177:Lrp6 UTSW 6 134,439,504 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTGTACAAATATCTCCAGCACCC -3'
(R):5'- AGCACTGATGTCTGTGACAG -3'

Sequencing Primer
(F):5'- ACCCACCCACTTTATAATGTTAACTG -3'
(R):5'- GTGACAGTGACTATGCTCCTAGC -3'
Posted On 2019-09-13