Incidental Mutation 'R2013:Lrp6'
ID 222354
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 040022-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R2013 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 134423439-134543876 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 134457337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032322]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000032322
SMART Domains Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T G 17: 48,347,723 (GRCm39) T194P possibly damaging Het
4921504E06Rik T A 2: 19,545,124 (GRCm39) M110L probably benign Het
Acad9 T G 3: 36,127,737 (GRCm39) I113R probably damaging Het
Adam34l T C 8: 44,079,442 (GRCm39) S261G possibly damaging Het
Adamts6 A T 13: 104,450,812 (GRCm39) I332F probably damaging Het
Adcy8 C T 15: 64,639,727 (GRCm39) G678S probably benign Het
Afg3l2 C T 18: 67,564,842 (GRCm39) V211I probably damaging Het
Ahnak T C 19: 8,991,937 (GRCm39) I4407T probably damaging Het
Alpl G T 4: 137,482,458 (GRCm39) H79N probably benign Het
Apc A G 18: 34,448,644 (GRCm39) I1813V probably damaging Het
Ascc3 T C 10: 50,525,908 (GRCm39) M540T probably damaging Het
Blm T C 7: 80,152,147 (GRCm39) E600G probably damaging Het
Btbd8 T C 5: 107,658,655 (GRCm39) W1742R probably damaging Het
Cadps T A 14: 12,522,337 (GRCm38) D609V probably damaging Het
Ccdc69 C T 11: 54,941,983 (GRCm39) M174I probably benign Het
Cdk13 A T 13: 17,913,748 (GRCm39) L877* probably null Het
Cdk14 T C 5: 5,143,047 (GRCm39) Y228C probably damaging Het
Dip2c C T 13: 9,617,882 (GRCm39) Q426* probably null Het
Dsp A G 13: 38,375,434 (GRCm39) N1073S probably damaging Het
Epyc T C 10: 97,511,655 (GRCm39) I216T probably damaging Het
Erbin A G 13: 103,994,041 (GRCm39) S300P probably damaging Het
Ercc3 A G 18: 32,381,482 (GRCm39) T433A probably benign Het
Exoc4 A G 6: 33,243,026 (GRCm39) T80A probably damaging Het
Foxm1 T A 6: 128,352,465 (GRCm39) probably null Het
Gaa A G 11: 119,175,409 (GRCm39) probably null Het
H2-Q4 A G 17: 35,599,526 (GRCm39) E203G probably damaging Het
Helt T C 8: 46,745,355 (GRCm39) D214G probably damaging Het
Hlcs A G 16: 94,063,599 (GRCm39) V487A probably benign Het
Hmmr A T 11: 40,619,259 (GRCm39) S74T possibly damaging Het
Hspa9 A T 18: 35,079,701 (GRCm39) Y243N probably damaging Het
Htt T G 5: 35,010,215 (GRCm39) L1556R probably damaging Het
Ift80 T C 3: 68,898,117 (GRCm39) K73E possibly damaging Het
Il6st G A 13: 112,635,423 (GRCm39) A551T probably null Het
Kdm5a T C 6: 120,408,951 (GRCm39) S1545P probably benign Het
Lef1 T A 3: 130,905,236 (GRCm39) I39N probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Macf1 T C 4: 123,577,807 (GRCm39) D59G probably damaging Het
Maged1 T C X: 93,580,523 (GRCm39) Y636C possibly damaging Het
Mamdc4 T A 2: 25,453,584 (GRCm39) D1195V probably damaging Het
Mob3b A G 4: 35,083,922 (GRCm39) V89A probably benign Het
Mogs C T 6: 83,094,631 (GRCm39) R483* probably null Het
Mybphl A C 3: 108,282,718 (GRCm39) T203P probably benign Het
Myo15a A G 11: 60,385,057 (GRCm39) T1720A probably damaging Het
Myo16 T A 8: 10,552,796 (GRCm39) F945I probably damaging Het
Nbeal2 G A 9: 110,463,139 (GRCm39) L1309F probably benign Het
Nes A G 3: 87,883,985 (GRCm39) Q748R possibly damaging Het
Nhsl1 A T 10: 18,387,340 (GRCm39) R205W probably damaging Het
Nlrc3 A C 16: 3,782,974 (GRCm39) L161R probably damaging Het
Npy2r T A 3: 82,448,487 (GRCm39) D96V probably damaging Het
Or4d11 T A 19: 12,013,518 (GRCm39) E196V probably damaging Het
Or5w18 T G 2: 87,632,847 (GRCm39) V38G probably damaging Het
Pappa2 C T 1: 158,662,498 (GRCm39) C1159Y probably damaging Het
Phf21a T C 2: 92,058,828 (GRCm39) probably null Het
Pik3c2a T A 7: 115,950,166 (GRCm39) probably null Het
Psg22 A T 7: 18,453,560 (GRCm39) Y85F possibly damaging Het
Pttg1ip2 T A 5: 5,505,964 (GRCm39) I106L probably benign Het
Qtrt2 A G 16: 43,689,455 (GRCm39) I181T probably damaging Het
Sash1 A T 10: 8,605,177 (GRCm39) V1071D probably benign Het
Scn10a A T 9: 119,442,802 (GRCm39) I1481N probably damaging Het
Slc15a1 G A 14: 121,713,399 (GRCm39) A376V possibly damaging Het
Slc25a46 A T 18: 31,742,778 (GRCm39) H29Q probably benign Het
Slit2 T C 5: 48,459,832 (GRCm39) C1354R probably damaging Het
Ssu2 C T 6: 112,360,902 (GRCm39) E52K possibly damaging Het
Taar7e A T 10: 23,913,732 (GRCm39) H74L possibly damaging Het
Tcte1 A T 17: 45,852,237 (GRCm39) N490I probably benign Het
Tent4b T A 8: 88,972,223 (GRCm39) probably null Het
Tpst2 G T 5: 112,455,880 (GRCm39) G140C probably damaging Het
Trip11 A T 12: 101,803,981 (GRCm39) F1634I probably damaging Het
Trpm2 A G 10: 77,761,600 (GRCm39) F1017L probably damaging Het
Utp18 A G 11: 93,766,948 (GRCm39) V253A possibly damaging Het
Vmn2r102 A G 17: 19,897,006 (GRCm39) T118A probably benign Het
Vmn2r14 T C 5: 109,369,109 (GRCm39) T155A probably benign Het
Vmn2r19 T A 6: 123,292,954 (GRCm39) M332K probably benign Het
Vmn2r71 T A 7: 85,269,845 (GRCm39) M452K probably benign Het
Vmn2r79 T G 7: 86,653,289 (GRCm39) L518R possibly damaging Het
Vps13b T C 15: 35,607,288 (GRCm39) S1074P probably damaging Het
Vps13d A G 4: 144,835,078 (GRCm39) S2757P probably damaging Het
Wdr33 C A 18: 32,022,029 (GRCm39) Q860K unknown Het
Zfp423 T A 8: 88,509,025 (GRCm39) I440F probably benign Het
Zup1 A G 10: 33,805,820 (GRCm39) V437A 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
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
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'- GCATGTGCATAGCAGAATCCC -3'
(R):5'- CCACTGTTTTGAATCCAGGTTTATG -3'

Sequencing Primer
(F):5'- TGTGCATAGCAGAATCCCTTCAC -3'
(R):5'- AATCCAGGTTTATGTATTGGACTGAG -3'
Posted On 2014-08-25