Incidental Mutation 'R6682:Ldlr'
ID 527546
Institutional Source Beutler Lab
Gene Symbol Ldlr
Ensembl Gene ENSMUSG00000032193
Gene Name low density lipoprotein receptor
Synonyms
MMRRC Submission 044801-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6682 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 21634872-21661215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21643671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 85 (D85G)
Ref Sequence ENSEMBL: ENSMUSP00000149431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034713] [ENSMUST00000213114]
AlphaFold P35951
Predicted Effect probably benign
Transcript: ENSMUST00000034713
AA Change: D85G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: D85G

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
LDLa 26 65 1.89e-14 SMART
LDLa 67 106 9.81e-13 SMART
EGF_like 108 144 6.81e1 SMART
LDLa 108 145 3.77e-14 SMART
LDLa 147 186 6.67e-15 SMART
LDLa 197 234 1.16e-14 SMART
LDLa 236 273 3.24e-13 SMART
LDLa 276 316 1e-9 SMART
EGF 318 354 3.2e-4 SMART
EGF_CA 355 394 4.09e-11 SMART
LY 420 462 1.11e-3 SMART
LY 466 508 4.7e-11 SMART
LY 509 552 5.23e-9 SMART
LY 553 595 7.86e-13 SMART
LY 596 639 3.25e-5 SMART
EGF 666 713 7.64e-2 SMART
low complexity region 799 811 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213114
AA Change: D85G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217613
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,385,460 (GRCm39) V368A possibly damaging Het
Bcl9l A G 9: 44,412,400 (GRCm39) T92A possibly damaging Het
Celsr2 A T 3: 108,307,817 (GRCm39) probably null Het
Cndp2 T C 18: 84,695,455 (GRCm39) K149E probably benign Het
Cnpy4 T C 5: 138,185,984 (GRCm39) probably null Het
Cox6c A T 15: 35,938,319 (GRCm39) probably null Het
Cpt2 G T 4: 107,761,627 (GRCm39) S158R probably damaging Het
Dlgap1 A G 17: 71,094,118 (GRCm39) K813R probably damaging Het
Dock10 A C 1: 80,490,338 (GRCm39) L1927R probably damaging Het
Gak T A 5: 108,746,742 (GRCm39) K430I probably damaging Het
Grik3 T A 4: 125,544,259 (GRCm39) Y327N probably damaging Het
Ldb3 T A 14: 34,274,221 (GRCm39) T334S possibly damaging Het
Med26 T A 8: 73,249,927 (GRCm39) T391S probably benign Het
Mmp27 A G 9: 7,573,606 (GRCm39) T233A probably benign Het
Mob1a A G 6: 83,311,132 (GRCm39) Y117C possibly damaging Het
Mrps35 A T 6: 146,949,777 (GRCm39) E97V possibly damaging Het
Msln A T 17: 25,971,993 (GRCm39) S75T probably damaging Het
Myoz1 C T 14: 20,703,687 (GRCm39) probably null Het
Nim1k A G 13: 120,173,724 (GRCm39) I390T probably benign Het
Or10k2 A G 8: 84,268,187 (GRCm39) H138R probably benign Het
Or4k51 C T 2: 111,584,980 (GRCm39) P129S probably damaging Het
Pclo A C 5: 14,589,893 (GRCm39) Q731P unknown Het
Prl3d3 G A 13: 27,345,023 (GRCm39) E132K probably benign Het
Pth1r C T 9: 110,556,319 (GRCm39) probably null Het
Ptpru T C 4: 131,548,093 (GRCm39) M135V probably benign Het
Slc12a9 A T 5: 137,325,663 (GRCm39) L316Q probably damaging Het
Slc35f6 G A 5: 30,814,764 (GRCm39) M177I possibly damaging Het
Smc4 T A 3: 68,914,574 (GRCm39) S62R probably damaging Het
Tmem179 C T 12: 112,469,714 (GRCm39) D29N probably benign Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Trpc4ap C T 2: 155,479,687 (GRCm39) probably null Het
Trpm8 C A 1: 88,254,224 (GRCm39) T149K probably damaging Het
Uhmk1 C T 1: 170,039,804 (GRCm39) probably null Het
Vmn2r79 C A 7: 86,653,370 (GRCm39) T545K possibly damaging Het
Vmn2r95 C A 17: 18,660,489 (GRCm39) N300K probably damaging Het
Wdr41 G A 13: 95,149,639 (GRCm39) G419D probably damaging Het
Zc3hav1 A T 6: 38,302,130 (GRCm39) H597Q probably benign Het
Zfp704 T C 3: 9,630,253 (GRCm39) E36G probably benign Het
Zfp9 A G 6: 118,444,202 (GRCm39) V47A possibly damaging Het
Other mutations in Ldlr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Ldlr APN 9 21,646,657 (GRCm39) critical splice donor site probably null
IGL01975:Ldlr APN 9 21,644,993 (GRCm39) missense probably benign 0.05
IGL02043:Ldlr APN 9 21,644,795 (GRCm39) missense probably benign 0.03
IGL02524:Ldlr APN 9 21,644,977 (GRCm39) missense probably damaging 1.00
IGL03049:Ldlr APN 9 21,657,115 (GRCm39) missense probably benign 0.00
IGL03113:Ldlr APN 9 21,651,124 (GRCm39) missense possibly damaging 0.85
R0240:Ldlr UTSW 9 21,649,295 (GRCm39) splice site probably benign
R0586:Ldlr UTSW 9 21,651,040 (GRCm39) missense probably benign 0.00
R1398:Ldlr UTSW 9 21,650,838 (GRCm39) missense probably benign 0.01
R1587:Ldlr UTSW 9 21,649,209 (GRCm39) missense probably damaging 0.99
R2198:Ldlr UTSW 9 21,643,698 (GRCm39) missense probably damaging 1.00
R3730:Ldlr UTSW 9 21,643,097 (GRCm39) missense probably benign 0.09
R4422:Ldlr UTSW 9 21,649,248 (GRCm39) missense probably damaging 1.00
R5044:Ldlr UTSW 9 21,646,538 (GRCm39) missense probably benign 0.00
R5046:Ldlr UTSW 9 21,657,203 (GRCm39) critical splice donor site probably null
R6186:Ldlr UTSW 9 21,635,055 (GRCm39) start gained probably benign
R6195:Ldlr UTSW 9 21,643,077 (GRCm39) nonsense probably null
R6523:Ldlr UTSW 9 21,648,549 (GRCm39) missense probably damaging 1.00
R7256:Ldlr UTSW 9 21,657,040 (GRCm39) missense probably benign 0.01
R7384:Ldlr UTSW 9 21,651,090 (GRCm39) missense probably benign 0.07
R7823:Ldlr UTSW 9 21,653,602 (GRCm39) critical splice donor site probably null
R8065:Ldlr UTSW 9 21,649,241 (GRCm39) missense probably damaging 1.00
R8223:Ldlr UTSW 9 21,658,546 (GRCm39) missense probably damaging 1.00
R8732:Ldlr UTSW 9 21,650,985 (GRCm39) missense probably benign 0.00
R8931:Ldlr UTSW 9 21,643,108 (GRCm39) missense probably damaging 0.99
R8954:Ldlr UTSW 9 21,650,828 (GRCm39) missense possibly damaging 0.87
R9315:Ldlr UTSW 9 21,644,782 (GRCm39) splice site probably benign
R9489:Ldlr UTSW 9 21,646,626 (GRCm39) missense probably damaging 1.00
R9517:Ldlr UTSW 9 21,655,240 (GRCm39) missense possibly damaging 0.90
R9605:Ldlr UTSW 9 21,646,626 (GRCm39) missense probably damaging 1.00
R9709:Ldlr UTSW 9 21,657,135 (GRCm39) missense probably benign 0.00
X0024:Ldlr UTSW 9 21,651,114 (GRCm39) missense probably damaging 1.00
Z1177:Ldlr UTSW 9 21,651,126 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCACTAACAGGGCTGCATG -3'
(R):5'- AATGAAGCCTCACAGCTGTC -3'

Sequencing Primer
(F):5'- GGTGCTTGTGACCAGCCTTC -3'
(R):5'- TGTTGCAAGGTGGGCACAC -3'
Posted On 2018-07-23