Incidental Mutation 'R6552:Lrp6'
ID 521689
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 044677-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6552 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 134423439-134543876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134431692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1473 (S1473T)
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: S1473T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: S1473T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111950
SMART Domains Protein: ENSMUSP00000107581
Gene: ENSMUSG00000030201

DomainStartEndE-ValueType
LY 11 53 1.41e-5 SMART
LY 59 102 5.32e-1 SMART
LY 103 147 5e-6 SMART
LY 148 190 4.25e-9 SMART
LY 191 231 1.91e-2 SMART
EGF 260 304 1.23e1 SMART
LDLa 302 341 2.42e-12 SMART
LDLa 342 378 4.37e-10 SMART
LDLa 379 416 1.66e-10 SMART
transmembrane domain 425 447 N/A INTRINSIC
low complexity region 483 492 N/A INTRINSIC
low complexity region 498 511 N/A INTRINSIC
low complexity region 562 578 N/A INTRINSIC
low complexity region 620 627 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang5 A T 14: 44,200,254 (GRCm39) H106L probably benign Het
Arsk A G 13: 76,220,315 (GRCm39) Y260H probably damaging Het
Atxn2l C T 7: 126,092,993 (GRCm39) V833M possibly damaging Het
Bpifa6 G A 2: 153,829,078 (GRCm39) D202N probably damaging Het
Ccdc103 A G 11: 102,774,970 (GRCm39) S190G probably benign Het
Col6a6 C T 9: 105,576,112 (GRCm39) V2083I probably damaging Het
Creb5 A G 6: 53,662,369 (GRCm39) D222G probably damaging Het
Cyp7a1 C T 4: 6,272,361 (GRCm39) W284* probably null Het
Dnmt3a T C 12: 3,957,623 (GRCm39) V868A probably damaging Het
Efr3a A G 15: 65,729,339 (GRCm39) D680G possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l4a A G 18: 34,012,032 (GRCm39) Y163H probably damaging Het
Gabra1 A T 11: 42,037,926 (GRCm39) S231T probably damaging Het
Golga4 T A 9: 118,343,299 (GRCm39) F42I probably damaging Het
Greb1l G A 18: 10,541,814 (GRCm39) S1187N probably benign Het
Haspin A G 11: 73,028,390 (GRCm39) V233A probably benign Het
Il34 T A 8: 111,469,059 (GRCm39) K187I probably benign Het
Kcnn2 A G 18: 45,693,165 (GRCm39) H247R probably benign Het
Klf5 T C 14: 99,539,078 (GRCm39) S84P probably benign Het
Lama5 G T 2: 179,822,947 (GRCm39) P2773Q probably damaging Het
Lcat T C 8: 106,666,311 (GRCm39) M404V possibly damaging Het
Lsm3 GATATATA GATATATATA 6: 91,496,617 (GRCm39) probably null Het
Mn1 T C 5: 111,568,753 (GRCm39) S908P possibly damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2ag13 TGAAGCC T 7: 106,313,850 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,429,046 (GRCm39) M340L probably benign Het
Pex1 G A 5: 3,673,953 (GRCm39) E748K probably damaging Het
Qrich1 T C 9: 108,411,504 (GRCm39) V343A possibly damaging Het
Rho A G 6: 115,908,709 (GRCm39) probably null Het
Sdhaf4 C A 1: 24,044,687 (GRCm39) probably benign Het
Sec24d A G 3: 123,084,201 (GRCm39) I127V probably benign Het
Siae T C 9: 37,557,696 (GRCm39) V501A possibly damaging Het
Skint3 T C 4: 112,147,482 (GRCm39) Y402H possibly damaging Het
Skint6 A C 4: 112,924,687 (GRCm39) V515G possibly damaging Het
Slc23a1 C A 18: 35,755,391 (GRCm39) G475C probably damaging Het
Smad9 A G 3: 54,690,167 (GRCm39) Y129C probably damaging Het
Snw1 A G 12: 87,506,189 (GRCm39) probably null Het
Spice1 A G 16: 44,199,396 (GRCm39) D616G possibly damaging Het
Stam2 T C 2: 52,598,239 (GRCm39) probably null Het
Sumo3 G T 10: 77,442,091 (GRCm39) probably benign Het
Syne2 T G 12: 75,937,015 (GRCm39) N204K possibly damaging Het
Tmem200a T C 10: 25,869,381 (GRCm39) N296S probably damaging Het
Ttbk1 G T 17: 46,789,888 (GRCm39) T125N probably benign Het
Ubr2 G T 17: 47,277,194 (GRCm39) probably null Het
Vmn1r80 C T 7: 11,927,684 (GRCm39) L265F probably damaging Het
Vwa8 A T 14: 79,435,662 (GRCm39) T1791S 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
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
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'- GCCTTTAGTAAGTCTGTCTGGC -3'
(R):5'- CAGTGAAGCCCATGGTTTGG -3'

Sequencing Primer
(F):5'- AGTAAGTCTGTCTGGCTCCTTACTAG -3'
(R):5'- CCATGAACTCTTTACAGCTGTTAGG -3'
Posted On 2018-06-06