Incidental Mutation 'R7304:Vldlr'
ID 567203
Institutional Source Beutler Lab
Gene Symbol Vldlr
Ensembl Gene ENSMUSG00000024924
Gene Name very low density lipoprotein receptor
Synonyms
MMRRC Submission 045365-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R7304 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 27193884-27231631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27216004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 305 (D305E)
Ref Sequence ENSEMBL: ENSMUSP00000127329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025866] [ENSMUST00000047645] [ENSMUST00000164746] [ENSMUST00000165761] [ENSMUST00000167487] [ENSMUST00000172302]
AlphaFold P98156
Predicted Effect possibly damaging
Transcript: ENSMUST00000025866
AA Change: D305E

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924
AA Change: D305E

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 possibly damaging
Transcript: ENSMUST00000047645
AA Change: D264E

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: D264E

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 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 possibly damaging
Transcript: ENSMUST00000167487
AA Change: D305E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: D305E

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: D305E

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: D305E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,247,203 (GRCm39) S2317G probably benign Het
Acap2 A C 16: 30,926,934 (GRCm39) L502R probably benign Het
Amotl2 A G 9: 102,605,549 (GRCm39) E467G probably damaging Het
Apbb1ip A T 2: 22,743,147 (GRCm39) probably null Het
Armc9 C G 1: 86,090,437 (GRCm39) D77E probably benign Het
Art1 T A 7: 101,755,531 (GRCm39) S8T possibly damaging Het
Asic5 G A 3: 81,916,872 (GRCm39) A321T possibly damaging Het
Astn2 A G 4: 66,103,612 (GRCm39) I267T unknown Het
Bmp8a T C 4: 123,236,182 (GRCm39) N107S probably benign Het
Card14 T A 11: 119,228,573 (GRCm39) L633Q probably damaging Het
Chpf C T 1: 75,455,698 (GRCm39) V18M possibly damaging Het
Cog7 T C 7: 121,536,362 (GRCm39) I493V probably benign Het
Col3a1 A T 1: 45,386,971 (GRCm39) N1394I unknown Het
Crybg1 C T 10: 43,873,254 (GRCm39) D1285N probably benign Het
Depdc7 A G 2: 104,553,463 (GRCm39) V395A possibly damaging Het
Dido1 G A 2: 180,329,286 (GRCm39) L379F probably damaging Het
Dnajc13 G T 9: 104,115,713 (GRCm39) T32N probably benign Het
Dok2 T A 14: 71,013,468 (GRCm39) S133R probably benign Het
Ehbp1l1 C T 19: 5,766,410 (GRCm39) R1311H probably damaging Het
Gm3099 A T 14: 15,346,488 (GRCm39) N118I probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Heg1 G A 16: 33,581,160 (GRCm39) A13T possibly damaging Het
Ifi209 A T 1: 173,470,156 (GRCm39) Y248F possibly damaging Het
Irag1 T C 7: 110,498,931 (GRCm39) T367A possibly damaging Het
Itgb3bp C G 4: 99,657,758 (GRCm39) E169Q probably damaging Het
Kcna2 A G 3: 107,012,066 (GRCm39) T216A probably benign Het
Kcnj6 A T 16: 94,742,042 (GRCm39) M10K probably benign Het
Krt17 T G 11: 100,148,163 (GRCm39) Q397P probably benign Het
Lrtm1 T A 14: 28,744,075 (GRCm39) M181K probably damaging Het
Map3k5 A G 10: 19,975,301 (GRCm39) H741R probably damaging Het
Mier1 T A 4: 102,996,599 (GRCm39) Y120* probably null Het
Myh14 T A 7: 44,279,415 (GRCm39) T922S probably benign Het
Nfkbie A T 17: 45,871,067 (GRCm39) I240F possibly damaging Het
Npas3 C A 12: 54,115,824 (GRCm39) H915Q probably damaging Het
Nrg2 A T 18: 36,178,994 (GRCm39) V314E probably benign Het
Or2z9 T A 8: 72,854,190 (GRCm39) Y195* probably null Het
Pds5a T C 5: 65,777,077 (GRCm39) N28S probably damaging Het
Pira1 T C 7: 3,740,493 (GRCm39) T243A probably damaging Het
Pkhd1l1 A T 15: 44,361,878 (GRCm39) N517I possibly damaging Het
Plekhb1 T C 7: 100,294,874 (GRCm39) Y99C probably benign Het
Plpp6 T C 19: 28,941,617 (GRCm39) S73P probably benign Het
Polb T C 8: 23,129,975 (GRCm39) N199S probably benign Het
Ppp1r13b T C 12: 111,838,840 (GRCm39) N13D possibly damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Ptprn2 T A 12: 117,212,164 (GRCm39) V862D probably damaging Het
Rassf4 T C 6: 116,617,278 (GRCm39) I242M probably damaging Het
Rnf19a G A 15: 36,254,598 (GRCm39) T320I probably damaging Het
Sctr A T 1: 119,949,970 (GRCm39) E53V probably damaging Het
Srcin1 T C 11: 97,442,519 (GRCm39) D103G probably benign Het
St3gal3 T C 4: 117,814,633 (GRCm39) Q220R Het
Stk40 G A 4: 126,019,483 (GRCm39) E86K probably benign Het
Tas2r104 T A 6: 131,662,005 (GRCm39) I235F possibly damaging Het
Terf2ip T C 8: 112,738,280 (GRCm39) V56A possibly damaging Het
Thsd7b A G 1: 130,030,890 (GRCm39) N1075S probably benign Het
Trak1 A G 9: 121,245,278 (GRCm39) Y51C probably benign Het
Trav16n T A 14: 53,588,859 (GRCm39) V45E probably benign Het
Ttc6 T C 12: 57,622,837 (GRCm39) S79P probably damaging Het
Unc79 C T 12: 103,029,449 (GRCm39) T484M probably damaging Het
Usp49 T C 17: 47,983,796 (GRCm39) V267A possibly damaging Het
Vmn1r226 G T 17: 20,908,011 (GRCm39) C81F probably damaging Het
Vmn1r73 T C 7: 11,490,824 (GRCm39) V214A probably damaging Het
Vmn2r5 T C 3: 64,411,671 (GRCm39) N299S probably damaging Het
Vwa3b T C 1: 37,203,586 (GRCm39) L55S probably damaging Het
Wdr90 T C 17: 26,070,480 (GRCm39) D1105G probably benign Het
Zbtb38 A G 9: 96,569,480 (GRCm39) S535P probably damaging Het
Zfp329 T C 7: 12,544,826 (GRCm39) I233V probably damaging Het
Zfp579 T A 7: 4,997,582 (GRCm39) T110S probably benign 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
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
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'- AGGTCAACTGCCGTAAGTAAC -3'
(R):5'- GCAGTCTTGTTCCTGGTCAC -3'

Sequencing Primer
(F):5'- GTCAACTGCCGTAAGTAACTTTCCAG -3'
(R):5'- GGTCACATACTTTGCTCATGTCTATG -3'
Posted On 2019-06-26