Incidental Mutation 'R8812:Lrp6'
ID 672484
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 068647-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R8812 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 134423439-134543876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134433141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1397 (M1397L)
Ref Sequence ENSEMBL: ENSMUSP00000032322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032322]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032322
AA Change: M1397L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: M1397L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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 (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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,480,471 (GRCm39) P1167Q probably damaging Het
Abtb3 A G 10: 85,463,113 (GRCm39) Q626R probably damaging Het
Adcy10 A T 1: 165,378,867 (GRCm39) Q885H probably damaging Het
Alkal2 C T 12: 30,940,055 (GRCm39) L139F probably damaging Het
Ankrd17 A T 5: 90,441,062 (GRCm39) M439K probably benign Het
Arl11 C A 14: 61,548,422 (GRCm39) Y77* probably null Het
Bcas3 T C 11: 85,449,973 (GRCm39) Y669H probably benign Het
Bpifb3 C T 2: 153,764,516 (GRCm39) A136V probably benign Het
Ccne2 A G 4: 11,202,279 (GRCm39) T345A probably benign Het
Ciz1 T C 2: 32,254,286 (GRCm39) S76P probably benign Het
Clip4 A T 17: 72,107,800 (GRCm39) K94* probably null Het
Cthrc1 G A 15: 38,947,866 (GRCm39) R195H probably damaging Het
Ddx31 T C 2: 28,730,816 (GRCm39) probably benign Het
Elf2 T A 3: 51,174,188 (GRCm39) D113V possibly damaging Het
Esrrb A G 12: 86,535,324 (GRCm39) N155S probably benign Het
Flnb A G 14: 7,887,624 (GRCm38) D478G probably benign Het
Galm T A 17: 80,435,215 (GRCm39) L24H probably damaging Het
Gask1b T C 3: 79,816,078 (GRCm39) S363P possibly damaging Het
Gon4l G A 3: 88,802,314 (GRCm39) G975D possibly damaging Het
Hspbp1 T G 7: 4,667,783 (GRCm39) M237L probably benign Het
Ighv1-62-1 A T 12: 115,350,367 (GRCm39) M100K probably damaging Het
Ipo8 A T 6: 148,676,575 (GRCm39) D971E possibly damaging Het
Itgax C T 7: 127,732,979 (GRCm39) A286V probably damaging Het
Jpt2 T C 17: 25,179,578 (GRCm39) Q3R probably benign Het
Katnip A C 7: 125,396,867 (GRCm39) R309S probably benign Het
Klrg2 A C 6: 38,613,838 (GRCm39) L55R probably damaging Het
Lrrc31 T A 3: 30,733,328 (GRCm39) Q462L probably benign Het
Lyg2 T A 1: 37,949,054 (GRCm39) I103F probably damaging Het
Map10 T C 8: 126,396,664 (GRCm39) V19A probably damaging Het
Map1b T A 13: 99,569,323 (GRCm39) M1133L unknown Het
Mrgpra4 A G 7: 47,631,481 (GRCm39) V40A probably benign Het
Myh1 G A 11: 67,099,967 (GRCm39) G626R probably benign Het
Myo9a T C 9: 59,687,030 (GRCm39) V45A probably benign Het
Ncdn A G 4: 126,638,905 (GRCm39) F638S possibly damaging Het
Ncs1 T A 2: 31,174,213 (GRCm39) M121K probably damaging Het
Nf1 T C 11: 79,437,180 (GRCm39) V16A probably damaging Het
Nktr T A 9: 121,579,317 (GRCm39) D1128E unknown Het
Nup205 T G 6: 35,191,269 (GRCm39) L1000R probably damaging Het
Obscn T C 11: 58,925,921 (GRCm39) E5604G probably damaging Het
Or1p4-ps1 T A 11: 74,208,534 (GRCm39) S228T unknown Het
Or2p2 T C 13: 21,257,220 (GRCm39) N84D probably damaging Het
Or4a68 A G 2: 89,270,209 (GRCm39) V138A probably benign Het
Or4c35 G T 2: 89,808,715 (GRCm39) A198S possibly damaging Het
Or51ah3 G T 7: 103,209,816 (GRCm39) C44F probably benign Het
Or5b96 A T 19: 12,867,560 (GRCm39) V127E probably damaging Het
Or7g12 A G 9: 18,899,812 (GRCm39) H176R possibly damaging Het
Ovch2 T A 7: 107,392,462 (GRCm39) I294F probably damaging Het
Ovch2 A T 7: 107,393,251 (GRCm39) C207* probably null Het
P3h2 T A 16: 25,801,467 (GRCm39) Y397F possibly damaging Het
Pappa A T 4: 65,123,166 (GRCm39) I834F possibly damaging Het
Pcdha11 T C 18: 37,140,716 (GRCm39) S782P probably benign Het
Pex1 T C 5: 3,681,614 (GRCm39) V980A probably benign Het
Pik3c2a G T 7: 115,951,112 (GRCm39) L1258I probably damaging Het
Pmp22 T A 11: 63,049,239 (GRCm39) *161R probably null Het
Ppp1r26 T A 2: 28,341,192 (GRCm39) M274K probably benign Het
Ppp6r2 T C 15: 89,167,275 (GRCm39) V830A probably benign Het
Pramel34 T C 5: 93,785,660 (GRCm39) T207A possibly damaging Het
Prss1 T A 6: 41,439,520 (GRCm39) N84K probably benign Het
Rab3il1 G A 19: 10,004,141 (GRCm39) A18T probably damaging Het
Sbf2 A T 7: 109,929,069 (GRCm39) S1471T probably damaging Het
Setdb1 T A 3: 95,263,371 (GRCm39) D45V probably damaging Het
Sik3 G T 9: 46,089,811 (GRCm39) V275L probably benign Het
Skint6 C A 4: 112,846,149 (GRCm39) M659I probably benign Het
Slc24a1 T A 9: 64,835,985 (GRCm39) D714V unknown Het
Slc26a5 T A 5: 22,018,880 (GRCm39) D653V probably damaging Het
Snrnp27 A T 6: 86,653,196 (GRCm39) C141S probably benign Het
Stradb A G 1: 59,033,478 (GRCm39) I380M probably benign Het
Sult1e1 T C 5: 87,735,501 (GRCm39) Y59C probably benign Het
Tas2r122 C T 6: 132,688,702 (GRCm39) A64T probably benign Het
Tep1 C T 14: 51,074,589 (GRCm39) C1812Y probably damaging Het
Tln2 C A 9: 67,128,693 (GRCm39) E1465D possibly damaging Het
Trio A T 15: 27,905,311 (GRCm39) C152S unknown Het
Tro G A X: 149,438,555 (GRCm39) S34L unknown Het
Vmn1r15 A G 6: 57,235,123 (GRCm39) probably benign Het
Vmn1r19 A G 6: 57,381,436 (GRCm39) probably benign Het
Vmn1r75 A G 7: 11,614,630 (GRCm39) T121A possibly damaging Het
Vmn2r32 A G 7: 7,477,669 (GRCm39) F241L probably damaging Het
Vmn2r66 A G 7: 84,654,893 (GRCm39) L472P probably damaging Het
Ylpm1 G T 12: 85,043,566 (GRCm39) W101C unknown Het
Zdbf2 C A 1: 63,347,272 (GRCm39) H1884N probably benign Het
Zfp1005 T A 2: 150,109,624 (GRCm39) C105S possibly damaging 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
R7348: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
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'- CTAGAACTTAAAACTGGACAAGAGC -3'
(R):5'- GTCTGTCCCTTCTAGCCAAAAG -3'

Sequencing Primer
(F):5'- GAGCAGATTCTCATAAATCGCTTGCC -3'
(R):5'- ACAATGATACTTCCTGGTCTGTTG -3'
Posted On 2021-04-30