Incidental Mutation 'R9630:Vldlr'
ID 725469
Institutional Source Beutler Lab
Gene Symbol Vldlr
Ensembl Gene ENSMUSG00000024924
Gene Name very low density lipoprotein receptor
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R9630 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 27193884-27231631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27207623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 37 (Q37L)
Ref Sequence ENSEMBL: ENSMUSP00000127329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025866] [ENSMUST00000047645] [ENSMUST00000164746] [ENSMUST00000167487] [ENSMUST00000172302]
AlphaFold P98156
Predicted Effect probably damaging
Transcript: ENSMUST00000025866
AA Change: Q37L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924
AA Change: Q37L

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: Q37L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: Q37L

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 damaging
Transcript: ENSMUST00000164746
AA Change: Q37L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128193
Gene: ENSMUSG00000024924
AA Change: Q37L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LDLa 32 69 1.69e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167487
AA Change: Q37L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: Q37L

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: Q37L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: Q37L

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: 99.2%
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. 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l1 A G 6: 48,952,756 (GRCm39) D227G probably damaging Het
Arhgap17 A G 7: 122,907,540 (GRCm39) M274T probably benign Het
Bco2 T C 9: 50,456,757 (GRCm39) T128A possibly damaging Het
Bcr T A 10: 74,966,950 (GRCm39) L519Q probably damaging Het
Cadps2 A T 6: 23,587,571 (GRCm39) S306R probably benign Het
Cage1 T C 13: 38,206,855 (GRCm39) E330G probably damaging Het
Ccdc8 A G 7: 16,728,733 (GRCm39) K74R possibly damaging Het
Cdc42ep2 C A 19: 5,968,363 (GRCm39) G114V Het
Celsr3 T C 9: 108,704,296 (GRCm39) S260P probably benign Het
Clic4 G A 4: 134,944,476 (GRCm39) T233I probably damaging Het
Clip2 C A 5: 134,531,934 (GRCm39) D624Y probably damaging Het
Clock A G 5: 76,393,281 (GRCm39) S221P probably benign Het
Creb3l2 G T 6: 37,356,808 (GRCm39) S86R possibly damaging Het
Cspp1 G A 1: 10,108,292 (GRCm39) probably benign Het
Dusp13b A T 14: 21,784,974 (GRCm39) N128K probably benign Het
Efnb2 T C 8: 8,670,617 (GRCm39) S328G probably damaging Het
Egf A G 3: 129,518,844 (GRCm39) L335P possibly damaging Het
Eml4 T A 17: 83,717,572 (GRCm39) V48D probably damaging Het
Fat2 A C 11: 55,147,605 (GRCm39) V3879G probably benign Het
Fcgbpl1 T C 7: 27,836,624 (GRCm39) L181P probably damaging Het
Flnb T A 14: 7,926,438 (GRCm38) Y1827* probably null Het
Fuca2 A T 10: 13,378,820 (GRCm39) Y71F probably benign Het
Gcn1 C A 5: 115,741,349 (GRCm39) H1463N probably damaging Het
Ifitm10 C T 7: 141,924,909 (GRCm39) A48T probably damaging Het
Iqce T C 5: 140,666,591 (GRCm39) D385G possibly damaging Het
Kdm5b T A 1: 134,512,971 (GRCm39) probably null Het
Kdm7a A T 6: 39,150,239 (GRCm39) S178T probably damaging Het
Mmp12 T A 9: 7,347,516 (GRCm39) M31K probably benign Het
Mon2 C T 10: 122,874,415 (GRCm39) R311H probably damaging Het
Myh15 A G 16: 48,980,341 (GRCm39) T1488A probably benign Het
Myo15a T A 11: 60,407,988 (GRCm39) C3159S probably damaging Het
Nf1 T C 11: 79,302,470 (GRCm39) V346A probably damaging Het
Nfkbib A T 7: 28,461,304 (GRCm39) Y114* probably null Het
Nr2c1 T A 10: 93,998,285 (GRCm39) D76E probably benign Het
Obscn G A 11: 58,943,397 (GRCm39) R4251C probably benign Het
Or1ak2 T C 2: 36,827,653 (GRCm39) I174T probably damaging Het
Or4a74 C A 2: 89,440,349 (GRCm39) M32I probably benign Het
Or5m10b A G 2: 85,699,493 (GRCm39) M186V probably benign Het
Or6c33 T C 10: 129,853,410 (GRCm39) F60S probably damaging Het
Or8h7 A C 2: 86,720,956 (GRCm39) S188A probably damaging Het
Pced1a A T 2: 130,261,109 (GRCm39) I416N probably benign Het
Pdzd2 G T 15: 12,374,443 (GRCm39) D1897E probably benign Het
Pign A T 1: 105,481,591 (GRCm39) F802I probably benign Het
Pik3c2g C A 6: 139,599,237 (GRCm39) Q118K possibly damaging Het
Plcl2 A G 17: 50,947,147 (GRCm39) M1009V probably benign Het
Ppil6 T A 10: 41,370,550 (GRCm39) D59E probably benign Het
Rad23a T C 8: 85,564,919 (GRCm39) D152G probably benign Het
Rif1 A G 2: 51,979,607 (GRCm39) I430V probably damaging Het
Rint1 T C 5: 24,020,810 (GRCm39) V611A possibly damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sall4 A G 2: 168,596,408 (GRCm39) S811P probably benign Het
Scaf11 G A 15: 96,316,049 (GRCm39) P1172S probably damaging Het
Sel1l3 T G 5: 53,342,117 (GRCm39) N368H possibly damaging Het
Sele C A 1: 163,879,523 (GRCm39) P352Q probably damaging Het
Serpinf1 T A 11: 75,301,852 (GRCm39) T268S probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Sis A T 3: 72,828,722 (GRCm39) N1152K probably benign Het
Slc16a13 T C 11: 70,108,597 (GRCm39) E411G possibly damaging Het
Slc22a23 T C 13: 34,379,390 (GRCm39) N459S possibly damaging Het
Srpk1 C A 17: 28,819,404 (GRCm39) K268N probably benign Het
Ssbp3 A G 4: 106,895,426 (GRCm39) Y258C probably damaging Het
Ssc5d C T 7: 4,939,426 (GRCm39) P621S probably damaging Het
Strada T C 11: 106,077,781 (GRCm39) Q61R unknown Het
Strn3 G A 12: 51,657,013 (GRCm39) T755I probably damaging Het
Taf4b C G 18: 14,930,077 (GRCm39) P150A probably damaging Het
Tmem236 T A 2: 14,223,815 (GRCm39) H201Q probably benign Het
Top3b A G 16: 16,710,354 (GRCm39) E728G probably benign Het
Tshr C T 12: 91,504,409 (GRCm39) P449L probably damaging Het
Ugt2b36 C T 5: 87,239,773 (GRCm39) G204D possibly damaging Het
Zfat A T 15: 67,990,793 (GRCm39) I1031N 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
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
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'- CAAACTCATCCCAGTCTGGC -3'
(R):5'- TCACGGTCATACTCCAGTGAG -3'

Sequencing Primer
(F):5'- AGTCTGGCCCCCTAGAAAG -3'
(R):5'- CAGAATCTCAATATATTTGCAGAGGC -3'
Posted On 2022-09-12