Incidental Mutation 'R7548:Lrp6'
ID 584309
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 045619-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7548 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 134423439-134543876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134484471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 384 (I384T)
Ref Sequence ENSEMBL: ENSMUSP00000032322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032322] [ENSMUST00000126836]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032322
AA Change: I384T

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: I384T

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 probably benign
Transcript: ENSMUST00000126836
SMART Domains Protein: ENSMUSP00000144733
Gene: ENSMUSG00000030201

DomainStartEndE-ValueType
LY 23 65 6.8e-16 SMART
LY 66 107 1.4e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik G A 5: 115,016,059 (GRCm39) S146N possibly damaging Het
Acr T C 15: 89,458,596 (GRCm39) S426P possibly damaging Het
Arl6ip1 A T 7: 117,725,733 (GRCm39) I59N probably damaging Het
Atp2b4 A T 1: 133,629,379 (GRCm39) *81K probably null Het
Atp8a1 T A 5: 67,973,071 (GRCm39) R26* probably null Het
Atp8b4 T A 2: 126,231,262 (GRCm39) Q453L probably benign Het
B4galt4 A G 16: 38,574,428 (GRCm39) E134G probably damaging Het
Bcl9 G A 3: 97,113,209 (GRCm39) T1082I probably damaging Het
Catsperg2 A G 7: 29,409,251 (GRCm39) F617L probably benign Het
Ccdc15 T C 9: 37,188,723 (GRCm39) N800S probably benign Het
Cd300ld T C 11: 114,878,248 (GRCm39) D88G probably benign Het
Ceacam2 A T 7: 25,229,958 (GRCm39) V216E probably benign Het
Cecr2 T A 6: 120,738,675 (GRCm39) M356K Het
Cenpm T C 15: 82,128,880 (GRCm39) M1V probably null Het
Ces2e A G 8: 105,658,538 (GRCm39) E401G probably benign Het
Cib3 C A 8: 72,961,041 (GRCm39) L65F probably damaging Het
Clip4 C G 17: 72,096,963 (GRCm39) T29R probably benign Het
Cnot7 A G 8: 40,953,874 (GRCm39) I131T probably damaging Het
Cntn5 A T 9: 9,673,415 (GRCm39) probably null Het
Col11a1 A C 3: 113,917,409 (GRCm39) H732P unknown Het
Coq4 A T 2: 29,685,420 (GRCm39) T145S possibly damaging Het
Cwf19l1 T C 19: 44,098,989 (GRCm39) D527G probably benign Het
Cyp3a25 T C 5: 145,923,735 (GRCm39) I303V probably damaging Het
Dab2 C T 15: 6,459,399 (GRCm39) T437I possibly damaging Het
Dlc1 A G 8: 37,051,809 (GRCm39) S190P probably benign Het
Dnah6 G A 6: 73,004,423 (GRCm39) L3847F probably damaging Het
Dnmbp T C 19: 43,877,838 (GRCm39) E411G probably benign Het
Dpp8 T C 9: 64,944,517 (GRCm39) Y95H probably damaging Het
Emb T A 13: 117,408,590 (GRCm39) D310E possibly damaging Het
Eml4 C A 17: 83,732,766 (GRCm39) Q140K probably benign Het
Epb41l3 T C 17: 69,517,271 (GRCm39) S100P probably damaging Het
Fat4 A T 3: 39,035,263 (GRCm39) T2972S probably benign Het
Fignl2 T C 15: 100,951,079 (GRCm39) E401G unknown Het
Fryl T A 5: 73,349,105 (GRCm39) D19V unknown Het
Gck C T 11: 5,852,040 (GRCm39) G16R Het
Gm3371 T C 14: 44,648,145 (GRCm39) M1V probably null Het
Hlcs T A 16: 93,933,876 (GRCm39) K661* probably null Het
Il17re C G 6: 113,443,348 (GRCm39) P363A probably damaging Het
Kif24 C T 4: 41,423,601 (GRCm39) E217K possibly damaging Het
Klhdc7b T C 15: 89,272,907 (GRCm39) I605T probably damaging Het
Krt31 T C 11: 99,940,346 (GRCm39) T170A probably damaging Het
Lgals3bp T C 11: 118,287,669 (GRCm39) D126G probably benign Het
Lig1 T A 7: 13,035,344 (GRCm39) F601Y possibly damaging Het
Mfap5 A T 6: 122,502,993 (GRCm39) T102S probably benign Het
Mfsd6 A G 1: 52,702,446 (GRCm39) F600S possibly damaging Het
Nlrp4a G A 7: 26,149,604 (GRCm39) E404K probably damaging Het
Nme3 T C 17: 25,115,522 (GRCm39) L12P probably damaging Het
Nxpe5 A T 5: 138,249,493 (GRCm39) T428S probably benign Het
Or1e26 G A 11: 73,479,802 (GRCm39) T254I possibly damaging Het
Or4c122 T C 2: 89,079,430 (GRCm39) T191A probably benign Het
Prr5 C A 15: 84,641,259 (GRCm39) P175Q possibly damaging Het
Psmc6 T C 14: 45,572,375 (GRCm39) Y110H probably benign Het
Pthlh T A 6: 147,158,653 (GRCm39) R102S possibly damaging Het
Ric8b G T 10: 84,783,736 (GRCm39) S198I probably damaging Het
Rrp7a C A 15: 83,001,871 (GRCm39) R212S possibly damaging Het
Rubcnl T C 14: 75,279,792 (GRCm39) Y392H probably benign Het
Sag G A 1: 87,772,638 (GRCm39) V369I probably benign Het
Sar1b A G 11: 51,680,094 (GRCm39) E140G probably benign Het
Sema3d T A 5: 12,627,783 (GRCm39) M658K unknown Het
Skor2 C T 18: 76,948,600 (GRCm39) S774F possibly damaging Het
Slc1a6 G T 10: 78,650,265 (GRCm39) R501L probably damaging Het
Spata31d1b A G 13: 59,864,468 (GRCm39) M539V probably benign Het
Spocd1 T C 4: 129,823,602 (GRCm39) L133P Het
Sptlc1 A T 13: 53,521,968 (GRCm39) N96K possibly damaging Het
Stox1 A T 10: 62,501,946 (GRCm39) S205T probably damaging Het
Tec T C 5: 72,917,693 (GRCm39) M509V probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Ttc34 T A 4: 154,940,816 (GRCm39) L499Q probably damaging Het
Uqcc1 A G 2: 155,751,309 (GRCm39) C120R probably damaging Het
Usp39 C T 6: 72,321,996 (GRCm39) S46N possibly damaging Het
Zbtb5 T C 4: 44,994,724 (GRCm39) E220G probably benign Het
Zfp287 A T 11: 62,604,701 (GRCm39) C735* 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
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
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'- GGGATCTAACACGATAGCCC -3'
(R):5'- TTGTTGATTTAGGTGCCACTGAAC -3'

Sequencing Primer
(F):5'- GCTCCTCTAAGTCCTCTGAAATCAAG -3'
(R):5'- AGGTGCCACTGAACTATTGC -3'
Posted On 2019-10-17