Incidental Mutation 'R0195:Vldlr'
ID 23406
Institutional Source Beutler Lab
Gene Symbol Vldlr
Ensembl Gene ENSMUSG00000024924
Gene Name very low density lipoprotein receptor
Synonyms
MMRRC Submission 038454-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R0195 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 27193884-27231631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27215786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 261 (D261V)
Ref Sequence ENSEMBL: ENSMUSP00000025866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025866] [ENSMUST00000047645] [ENSMUST00000164746] [ENSMUST00000165761] [ENSMUST00000167487] [ENSMUST00000172302]
AlphaFold P98156
Predicted Effect probably damaging
Transcript: ENSMUST00000025866
AA Change: D261V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924
AA Change: D261V

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 damaging
Transcript: ENSMUST00000047645
AA Change: D220V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: D220V

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: ENSMUST00000164746
SMART Domains Protein: ENSMUSP00000128193
Gene: ENSMUSG00000024924

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LDLa 32 69 1.69e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165761
SMART Domains Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924

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: D261V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: D261V

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 damaging
Transcript: ENSMUST00000172302
AA Change: D261V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: D261V

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 0.3487 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.4%
Validation Efficiency 98% (156/160)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C G 11: 100,403,800 (GRCm39) R362P possibly damaging Het
Adam24 T A 8: 41,134,805 (GRCm39) W758R probably benign Het
Adam26b G T 8: 43,973,307 (GRCm39) T565K probably damaging Het
Adam7 T G 14: 68,765,076 (GRCm39) probably benign Het
Adamts19 A G 18: 59,102,942 (GRCm39) probably benign Het
Add1 A G 5: 34,767,990 (GRCm39) probably benign Het
Ago1 A G 4: 126,357,484 (GRCm39) C64R probably benign Het
Ankrd12 C T 17: 66,356,943 (GRCm39) probably null Het
Arhgef33 A G 17: 80,688,863 (GRCm39) K820E probably damaging Het
Arl9 T C 5: 77,154,341 (GRCm39) V8A probably damaging Het
Aspm T C 1: 139,406,873 (GRCm39) L1920P probably damaging Het
Atad2 A G 15: 57,963,350 (GRCm39) probably benign Het
Atp2b2 A T 6: 113,770,835 (GRCm39) V358E probably benign Het
C3ar1 A C 6: 122,828,114 (GRCm39) C34W possibly damaging Het
C6 G A 15: 4,792,953 (GRCm39) V353M probably benign Het
Capn7 T C 14: 31,087,538 (GRCm39) I593T probably damaging Het
Casc3 T A 11: 98,712,319 (GRCm39) D119E probably damaging Het
Ccna1 T A 3: 54,961,785 (GRCm39) E45V probably damaging Het
Cdc37 A G 9: 21,053,576 (GRCm39) V180A probably benign Het
Cdh23 A G 10: 60,152,838 (GRCm39) I2393T probably damaging Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cngb3 A T 4: 19,280,975 (GRCm39) M15L probably benign Het
Crygn A G 5: 24,961,036 (GRCm39) M90T possibly damaging Het
Cse1l T A 2: 166,782,008 (GRCm39) S661R probably benign Het
D830013O20Rik C T 12: 73,411,095 (GRCm39) noncoding transcript Het
Ddx24 C T 12: 103,385,220 (GRCm39) probably null Het
Dnah3 A T 7: 119,676,998 (GRCm39) probably null Het
Dnah9 C T 11: 65,786,731 (GRCm39) G3634E probably benign Het
Dnttip2 A T 3: 122,069,810 (GRCm39) T342S probably benign Het
Evx2 G T 2: 74,489,388 (GRCm39) R125S probably damaging Het
Fbxl5 A T 5: 43,928,140 (GRCm39) L40Q probably damaging Het
Git1 T A 11: 77,391,899 (GRCm39) D240E probably benign Het
Glp2r T A 11: 67,600,534 (GRCm39) K438N probably damaging Het
Hivep1 T A 13: 42,309,629 (GRCm39) I623N probably benign Het
Il17re A G 6: 113,443,098 (GRCm39) E312G probably damaging Het
Itgb7 G A 15: 102,130,618 (GRCm39) probably benign Het
Itpr3 A G 17: 27,333,088 (GRCm39) Y1900C probably damaging Het
Krt1c G A 15: 101,721,626 (GRCm39) Q472* probably null Het
Krtap5-1 A C 7: 141,850,434 (GRCm39) C125G unknown Het
Macf1 A G 4: 123,328,709 (GRCm39) S2554P probably damaging Het
Marchf10 C T 11: 105,276,351 (GRCm39) G646R probably damaging Het
Mrpl48 A C 7: 100,195,560 (GRCm39) probably benign Het
Myo16 A T 8: 10,365,538 (GRCm39) probably benign Het
Nrcam A T 12: 44,631,628 (GRCm39) E1060D probably benign Het
Nsd3 T A 8: 26,170,709 (GRCm39) C731S probably damaging Het
Nup85 T G 11: 115,455,357 (GRCm39) M1R probably null Het
Nxnl2 G T 13: 51,325,483 (GRCm39) R42L probably damaging Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Or13c25 G A 4: 52,910,849 (GRCm39) T315M probably benign Het
Orc1 C T 4: 108,471,505 (GRCm39) R786* probably null Het
P2ry6 A T 7: 100,587,904 (GRCm39) W152R probably damaging Het
Pex5l T C 3: 33,047,102 (GRCm39) N283D possibly damaging Het
Pgk2 T C 17: 40,518,622 (GRCm39) I269V probably benign Het
Phgdh T G 3: 98,223,866 (GRCm39) probably benign Het
Pzp A T 6: 128,464,441 (GRCm39) L1362Q probably damaging Het
Rbbp9 T C 2: 144,390,026 (GRCm39) probably benign Het
Rffl A G 11: 82,700,989 (GRCm39) L244P probably damaging Het
Serpina11 T C 12: 103,952,131 (GRCm39) Y213C probably damaging Het
Spopfm1 A G 3: 94,173,229 (GRCm39) Y79C possibly damaging Het
Srsf11 A G 3: 157,742,172 (GRCm39) probably benign Het
Sspo T A 6: 48,463,570 (GRCm39) V3785E probably benign Het
Svep1 A T 4: 58,089,514 (GRCm39) S1632T possibly damaging Het
Tm4sf1 T A 3: 57,200,480 (GRCm39) D74V probably damaging Het
Tmprss15 T A 16: 78,831,222 (GRCm39) T393S probably benign Het
Tnfaip3 A G 10: 18,881,461 (GRCm39) L275P probably damaging Het
Trim30c A G 7: 104,031,636 (GRCm39) V393A probably benign Het
Tssk2 T A 16: 17,717,439 (GRCm39) S281T probably benign Het
Tubb4a A G 17: 57,388,499 (GRCm39) S176P probably damaging Het
Unc45b T A 11: 82,828,654 (GRCm39) M785K probably damaging Het
Vmn1r176 G T 7: 23,535,010 (GRCm39) Q48K probably benign Het
Vmn2r110 A T 17: 20,794,317 (GRCm39) L784Q probably benign Het
Vps13b A G 15: 35,472,045 (GRCm39) T783A probably benign Het
Zfp800 A G 6: 28,243,846 (GRCm39) M373T probably damaging Het
Zmym1 A G 4: 126,941,704 (GRCm39) F895L possibly 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
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
R5886:Vldlr UTSW 19 27,221,171 (GRCm39) missense probably benign 0.03
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'- GCTGCGTCTCCAGAAACTTTGTGTG -3'
(R):5'- GATGCCATTGCATTGCCTGCTG -3'

Sequencing Primer
(F):5'- AGTTCCAGTGCAGCACCTC -3'
(R):5'- GCCGTGGATACAGCTACCATC -3'
Posted On 2013-04-16