Incidental Mutation 'R5886:Vldlr'
ID 456136
Institutional Source Beutler Lab
Gene Symbol Vldlr
Ensembl Gene ENSMUSG00000024924
Gene Name very low density lipoprotein receptor
Synonyms
MMRRC Submission 044088-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R5886 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 27193884-27231631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 27221171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 612 (S612R)
Ref Sequence ENSEMBL: ENSMUSP00000126730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025866] [ENSMUST00000047645] [ENSMUST00000165761] [ENSMUST00000167487] [ENSMUST00000172302]
AlphaFold P98156
Predicted Effect probably benign
Transcript: ENSMUST00000025866
SMART Domains Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF_like 32 68 7.38e1 SMART
LDLa 32 69 1.69e-16 SMART
LDLa 71 110 5.81e-15 SMART
LDLa 112 151 1.96e-12 SMART
LDLa 153 190 7.15e-15 SMART
LDLa 192 231 1.23e-13 SMART
LDLa 238 275 1.1e-15 SMART
LDLa 277 314 1.13e-12 SMART
LDLa 317 357 3.86e-11 SMART
EGF_CA 356 395 1e-5 SMART
EGF_CA 396 435 6.1e-10 SMART
Blast:LY 461 495 4e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000047645
AA Change: S571R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: S571R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF_like 32 68 7.38e1 SMART
LDLa 32 69 1.69e-16 SMART
LDLa 71 110 1.25e-14 SMART
LDLa 112 149 7.15e-15 SMART
LDLa 151 190 1.23e-13 SMART
LDLa 197 234 1.1e-15 SMART
LDLa 236 273 1.13e-12 SMART
LDLa 276 316 3.86e-11 SMART
EGF_CA 315 354 1e-5 SMART
EGF_CA 355 394 6.1e-10 SMART
LY 420 462 2.16e-1 SMART
LY 464 506 9.54e-12 SMART
LY 507 550 2.22e-12 SMART
LY 551 593 1.66e-11 SMART
LY 594 637 5.97e-4 SMART
EGF 664 709 2.16e-1 SMART
transmembrane domain 728 750 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164509
Predicted Effect probably benign
Transcript: ENSMUST00000165761
AA Change: S239R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924
AA Change: S239R

DomainStartEndE-ValueType
LDLa 1 26 1.58e0 SMART
EGF 28 64 4e-5 SMART
LY 88 130 2.16e-1 SMART
LY 132 174 9.54e-12 SMART
LY 175 218 2.22e-12 SMART
LY 219 258 3.25e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167487
AA Change: S612R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: S612R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF_like 32 68 7.38e1 SMART
LDLa 32 69 1.69e-16 SMART
LDLa 71 110 5.81e-15 SMART
LDLa 112 151 1.96e-12 SMART
LDLa 153 190 7.15e-15 SMART
LDLa 192 231 1.23e-13 SMART
LDLa 238 275 1.1e-15 SMART
LDLa 277 314 1.13e-12 SMART
LDLa 317 357 3.86e-11 SMART
EGF_CA 356 395 1e-5 SMART
EGF_CA 396 435 6.1e-10 SMART
LY 461 503 2.16e-1 SMART
LY 505 547 9.54e-12 SMART
LY 548 591 2.22e-12 SMART
LY 592 634 1.66e-11 SMART
LY 635 678 5.97e-4 SMART
EGF 705 750 2.16e-1 SMART
transmembrane domain 797 819 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172302
AA Change: S612R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: S612R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF_like 32 68 7.38e1 SMART
LDLa 32 69 1.69e-16 SMART
LDLa 71 110 5.81e-15 SMART
LDLa 112 151 1.96e-12 SMART
LDLa 153 190 7.15e-15 SMART
LDLa 192 231 1.23e-13 SMART
LDLa 238 275 1.1e-15 SMART
LDLa 277 314 1.13e-12 SMART
LDLa 317 357 3.86e-11 SMART
EGF_CA 356 395 1e-5 SMART
EGF_CA 396 435 6.1e-10 SMART
LY 461 503 2.16e-1 SMART
LY 505 547 9.54e-12 SMART
LY 548 591 2.22e-12 SMART
LY 592 634 1.66e-11 SMART
LY 635 678 5.97e-4 SMART
EGF 705 750 2.16e-1 SMART
transmembrane domain 769 791 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
Validation Efficiency 96% (78/81)
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. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygous null mutants exhibit modest reductions in body weight and adiposity. In behavioral tests, mutants display deficits in contextual fear conditioning and long term potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Adam26b T C 8: 43,973,310 (GRCm39) E564G possibly damaging Het
Akap1 A G 11: 88,725,486 (GRCm39) probably null Het
Akap5 T A 12: 76,374,619 (GRCm39) V10E possibly damaging Het
Atad2 A T 15: 57,961,910 (GRCm39) L887* probably null Het
Brd10 T C 19: 29,696,677 (GRCm39) I939V probably benign Het
C1qbp A G 11: 70,873,008 (GRCm39) V122A probably benign Het
C1qtnf7 G A 5: 43,772,998 (GRCm39) G92D probably damaging Het
Cacna1a T C 8: 85,249,651 (GRCm39) I219T probably damaging Het
Capn12 A G 7: 28,587,030 (GRCm39) N333S probably benign Het
Ccdc154 C T 17: 25,390,792 (GRCm39) T644I probably benign Het
Cd200r1 T C 16: 44,610,566 (GRCm39) S225P possibly damaging Het
Cntnap5a T C 1: 116,499,402 (GRCm39) probably null Het
Coq4 A T 2: 29,680,626 (GRCm39) probably benign Het
Cubn A T 2: 13,324,834 (GRCm39) probably benign Het
Cyp4f17 A T 17: 32,743,013 (GRCm39) S229C possibly damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
D930007J09Rik C A 13: 32,986,819 (GRCm39) A200E probably benign Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Duoxa1 A T 2: 122,134,291 (GRCm39) S276T possibly damaging Het
Efcab15 A G 11: 103,098,947 (GRCm39) probably null Het
Efhb T C 17: 53,758,582 (GRCm39) I351M probably benign Het
Fat1 G A 8: 45,480,718 (GRCm39) probably null Het
Fat1 A T 8: 45,486,432 (GRCm39) T3329S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gm973 T A 1: 59,597,409 (GRCm39) probably benign Het
Gpr156 T A 16: 37,799,375 (GRCm39) L124Q probably damaging Het
Hars2 T A 18: 36,923,150 (GRCm39) probably benign Het
Hcrt G A 11: 100,652,759 (GRCm39) A85V probably damaging Het
Hivep1 A G 13: 42,310,088 (GRCm39) D776G probably damaging Het
Hmgcr A T 13: 96,796,691 (GRCm39) S200T probably damaging Het
Krt40 C T 11: 99,430,907 (GRCm39) A201T probably benign Het
Lca5 G A 9: 83,281,734 (GRCm39) A350V probably benign Het
Lrig2 T A 3: 104,370,014 (GRCm39) M515L probably benign Het
Mbd5 A G 2: 49,162,464 (GRCm39) D90G probably damaging Het
Mfsd4a C T 1: 131,995,465 (GRCm39) V56I probably damaging Het
Mpi A G 9: 57,455,745 (GRCm39) probably benign Het
Mroh4 G T 15: 74,478,296 (GRCm39) D935E possibly damaging Het
Mtg1 G T 7: 139,729,778 (GRCm39) probably null Het
Nanos1 T A 19: 60,745,268 (GRCm39) C189S probably damaging Het
Naprt A C 15: 75,763,324 (GRCm39) probably null Het
Nubpl T A 12: 52,228,092 (GRCm39) probably null Het
Or10ad1b T C 15: 98,124,672 (GRCm39) T285A possibly damaging Het
Or10d4 G T 9: 39,581,252 (GRCm39) V300L probably benign Het
Or8g23 T A 9: 38,971,678 (GRCm39) T95S probably benign Het
Or9g20 A G 2: 85,630,147 (GRCm39) S156P probably damaging Het
Otud4 T A 8: 80,399,436 (GRCm39) Y717N probably damaging Het
Pakap T A 4: 57,856,295 (GRCm39) D582E probably damaging Het
Pnpla1 T C 17: 29,095,837 (GRCm39) F86S possibly damaging Het
Prlhr C T 19: 60,456,014 (GRCm39) W184* probably null Het
Rtp3 A G 9: 110,816,204 (GRCm39) S116P probably damaging Het
Sema3c T C 5: 17,886,984 (GRCm39) I345T possibly damaging Het
Skor2 T C 18: 76,947,124 (GRCm39) L282P unknown Het
Slc24a4 T C 12: 102,226,674 (GRCm39) V468A probably damaging Het
Slfn8 C T 11: 82,894,160 (GRCm39) M826I probably benign Het
Tacc2 A G 7: 130,330,850 (GRCm39) D378G probably benign Het
Thbs3 C A 3: 89,127,470 (GRCm39) D370E probably damaging Het
Tk1 CC GA 11: 117,707,948 (GRCm39) probably benign Het
Tm7sf2 A G 19: 6,116,572 (GRCm39) probably benign Het
Trappc8 T C 18: 21,007,737 (GRCm39) Y126C probably damaging Het
Trim35 C G 14: 66,541,502 (GRCm39) L209V possibly damaging Het
Trim35 T C 14: 66,541,503 (GRCm39) L209P probably damaging Het
Trip12 C T 1: 84,708,179 (GRCm39) probably benign Het
Trp53bp1 A G 2: 121,035,502 (GRCm39) V1583A probably damaging Het
Tuba5-ps A G 1: 134,447,937 (GRCm39) noncoding transcript Het
Tubgcp6 A T 15: 88,987,450 (GRCm39) N1166K possibly damaging Het
Usp54 C T 14: 20,611,910 (GRCm39) D969N probably benign Het
Vps13a T C 19: 16,641,926 (GRCm39) T2234A probably benign Het
Vps39 A G 2: 120,152,053 (GRCm39) probably benign Het
Zdhhc3 A T 9: 122,920,146 (GRCm39) C120S probably benign Het
Zfp37 A G 4: 62,109,471 (GRCm39) F531S probably damaging Het
Other mutations in Vldlr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Vldlr APN 19 27,217,081 (GRCm39) missense possibly damaging 0.93
IGL01575:Vldlr APN 19 27,224,031 (GRCm39) missense probably benign
IGL01626:Vldlr APN 19 27,221,173 (GRCm39) missense probably damaging 1.00
IGL02213:Vldlr APN 19 27,218,726 (GRCm39) missense probably benign 0.09
IGL02365:Vldlr APN 19 27,223,025 (GRCm39) missense probably damaging 1.00
IGL02488:Vldlr APN 19 27,215,675 (GRCm39) missense probably damaging 1.00
IGL02708:Vldlr APN 19 27,215,485 (GRCm39) missense possibly damaging 0.92
IGL02947:Vldlr APN 19 27,217,120 (GRCm39) missense probably benign 0.03
disturbed UTSW 19 27,216,204 (GRCm39) nonsense probably null
r26 UTSW 19 27,223,054 (GRCm39) missense probably damaging 0.99
spotty UTSW 19 27,216,192 (GRCm39) missense probably damaging 1.00
PIT4142001:Vldlr UTSW 19 27,212,269 (GRCm39) missense probably benign 0.05
R0195:Vldlr UTSW 19 27,215,786 (GRCm39) missense probably damaging 1.00
R0288:Vldlr UTSW 19 27,218,051 (GRCm39) splice site probably benign
R0536:Vldlr UTSW 19 27,217,364 (GRCm39) missense probably damaging 1.00
R0537:Vldlr UTSW 19 27,225,318 (GRCm39) missense probably damaging 1.00
R0542:Vldlr UTSW 19 27,213,655 (GRCm39) missense probably benign 0.01
R0594:Vldlr UTSW 19 27,212,219 (GRCm39) missense probably damaging 1.00
R0624:Vldlr UTSW 19 27,215,663 (GRCm39) missense possibly damaging 0.91
R0726:Vldlr UTSW 19 27,215,786 (GRCm39) missense probably damaging 1.00
R1017:Vldlr UTSW 19 27,218,733 (GRCm39) missense probably damaging 1.00
R1148:Vldlr UTSW 19 27,218,691 (GRCm39) missense probably benign 0.01
R1148:Vldlr UTSW 19 27,218,691 (GRCm39) missense probably benign 0.01
R1443:Vldlr UTSW 19 27,217,121 (GRCm39) missense possibly damaging 0.91
R1493:Vldlr UTSW 19 27,218,691 (GRCm39) missense probably benign 0.01
R1520:Vldlr UTSW 19 27,224,466 (GRCm39) missense possibly damaging 0.96
R1520:Vldlr UTSW 19 27,217,943 (GRCm39) missense probably damaging 0.99
R1657:Vldlr UTSW 19 27,223,070 (GRCm39) missense probably benign 0.00
R1901:Vldlr UTSW 19 27,218,709 (GRCm39) missense probably damaging 1.00
R2047:Vldlr UTSW 19 27,212,238 (GRCm39) missense probably damaging 1.00
R2258:Vldlr UTSW 19 27,215,786 (GRCm39) missense probably damaging 1.00
R2273:Vldlr UTSW 19 27,225,415 (GRCm39) missense probably damaging 1.00
R2423:Vldlr UTSW 19 27,213,688 (GRCm39) missense possibly damaging 0.49
R3196:Vldlr UTSW 19 27,220,554 (GRCm39) missense probably damaging 0.98
R3752:Vldlr UTSW 19 27,215,731 (GRCm39) missense probably damaging 1.00
R3801:Vldlr UTSW 19 27,195,021 (GRCm39) missense probably damaging 0.99
R3835:Vldlr UTSW 19 27,212,214 (GRCm39) missense probably damaging 1.00
R4027:Vldlr UTSW 19 27,215,713 (GRCm39) missense probably benign
R4301:Vldlr UTSW 19 27,215,802 (GRCm39) missense possibly damaging 0.80
R4470:Vldlr UTSW 19 27,212,219 (GRCm39) missense probably damaging 0.96
R4541:Vldlr UTSW 19 27,216,192 (GRCm39) missense probably damaging 1.00
R4765:Vldlr UTSW 19 27,217,947 (GRCm39) missense probably damaging 1.00
R4771:Vldlr UTSW 19 27,217,290 (GRCm39) missense probably damaging 0.97
R4795:Vldlr UTSW 19 27,216,252 (GRCm39) splice site probably null
R4839:Vldlr UTSW 19 27,215,465 (GRCm39) missense probably damaging 1.00
R5074:Vldlr UTSW 19 27,215,677 (GRCm39) missense probably damaging 1.00
R5134:Vldlr UTSW 19 27,216,212 (GRCm39) nonsense probably null
R5281:Vldlr UTSW 19 27,221,631 (GRCm39) missense probably benign 0.44
R5466:Vldlr UTSW 19 27,217,243 (GRCm39) critical splice acceptor site probably null
R5514:Vldlr UTSW 19 27,221,624 (GRCm39) missense probably damaging 0.97
R5889:Vldlr UTSW 19 27,217,064 (GRCm39) missense probably damaging 1.00
R6110:Vldlr UTSW 19 27,215,477 (GRCm39) missense possibly damaging 0.92
R6343:Vldlr UTSW 19 27,223,049 (GRCm39) missense probably damaging 0.99
R6833:Vldlr UTSW 19 27,217,974 (GRCm39) missense probably damaging 1.00
R6838:Vldlr UTSW 19 27,225,370 (GRCm39) missense probably damaging 1.00
R7169:Vldlr UTSW 19 27,221,728 (GRCm39) missense probably benign
R7197:Vldlr UTSW 19 27,212,241 (GRCm39) missense probably benign 0.36
R7304:Vldlr UTSW 19 27,216,004 (GRCm39) missense possibly damaging 0.93
R7403:Vldlr UTSW 19 27,213,674 (GRCm39) nonsense probably null
R7658:Vldlr UTSW 19 27,220,536 (GRCm39) missense probably benign 0.33
R7754:Vldlr UTSW 19 27,195,015 (GRCm39) start codon destroyed probably benign 0.01
R8105:Vldlr UTSW 19 27,216,204 (GRCm39) nonsense probably null
R8377:Vldlr UTSW 19 27,212,258 (GRCm39) missense probably damaging 1.00
R8529:Vldlr UTSW 19 27,207,656 (GRCm39) missense probably benign 0.03
R8777:Vldlr UTSW 19 27,217,946 (GRCm39) missense probably benign 0.00
R8777-TAIL:Vldlr UTSW 19 27,217,946 (GRCm39) missense probably benign 0.00
R9380:Vldlr UTSW 19 27,216,192 (GRCm39) missense possibly damaging 0.63
R9400:Vldlr UTSW 19 27,216,175 (GRCm39) missense probably damaging 0.99
R9483:Vldlr UTSW 19 27,224,031 (GRCm39) missense probably benign 0.00
R9502:Vldlr UTSW 19 27,218,742 (GRCm39) missense probably damaging 1.00
R9509:Vldlr UTSW 19 27,221,687 (GRCm39) missense probably benign 0.44
R9630:Vldlr UTSW 19 27,207,623 (GRCm39) missense probably damaging 1.00
R9767:Vldlr UTSW 19 27,212,274 (GRCm39) missense probably damaging 1.00
R9768:Vldlr UTSW 19 27,218,720 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- CAGAGGGAATGCAGACACATTTTC -3'
(R):5'- CCAGGCTTTAGGTAAAGGTTTCTC -3'

Sequencing Primer
(F):5'- GCAGACACATTTTCTTTTGGTGAC -3'
(R):5'- AGGTAAAGGTTTCTCAGTTGTCTAC -3'
Posted On 2017-02-15