Incidental Mutation 'R6392:Lrp12'
ID 515826
Institutional Source Beutler Lab
Gene Symbol Lrp12
Ensembl Gene ENSMUSG00000022305
Gene Name low density lipoprotein-related protein 12
Synonyms C820005L12Rik
MMRRC Submission 044541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R6392 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 39733985-39807390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 39735415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 839 (C839Y)
Ref Sequence ENSEMBL: ENSMUSP00000105934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022916] [ENSMUST00000110305]
AlphaFold Q8BUJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000022916
AA Change: C858Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: C858Y

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
CUB 47 159 3.23e-28 SMART
LDLa 167 202 1.27e-11 SMART
LDLa 214 256 1.04e-7 SMART
CUB 259 372 9.88e-24 SMART
LDLa 374 412 2.6e-3 SMART
LDLa 413 450 2.36e-6 SMART
LDLa 451 487 5.1e-11 SMART
low complexity region 630 646 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
low complexity region 708 722 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110305
AA Change: C839Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: C839Y

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CUB 28 140 3.23e-28 SMART
LDLa 148 183 1.27e-11 SMART
LDLa 195 237 1.04e-7 SMART
CUB 240 353 9.88e-24 SMART
LDLa 355 393 2.6e-3 SMART
LDLa 394 431 2.36e-6 SMART
LDLa 432 468 5.1e-11 SMART
low complexity region 611 627 N/A INTRINSIC
low complexity region 634 645 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
Meta Mutation Damage Score 0.1714 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.1%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,825,526 (GRCm39) I330F probably damaging Het
Abcc9 A G 6: 142,627,825 (GRCm39) S402P probably damaging Het
Ada A G 2: 163,570,137 (GRCm39) L292P probably damaging Het
Adam34l A T 8: 44,079,038 (GRCm39) N395K probably benign Het
Adra1d T C 2: 131,403,529 (GRCm39) D187G probably damaging Het
AI467606 C A 7: 126,691,717 (GRCm39) Y97* probably null Het
Arid2 A G 15: 96,259,483 (GRCm39) E245G probably damaging Het
Ccdc78 C G 17: 26,007,148 (GRCm39) Q213E probably damaging Het
Cntnap1 G T 11: 101,077,472 (GRCm39) D1045Y probably damaging Het
Ctcf T C 8: 106,390,765 (GRCm39) V124A probably damaging Het
Cutc T C 19: 43,748,489 (GRCm39) S129P possibly damaging Het
Dhx36 T C 3: 62,401,790 (GRCm39) I308V probably benign Het
Disp2 T C 2: 118,621,230 (GRCm39) V654A probably damaging Het
Esm1 G A 13: 113,346,283 (GRCm39) probably benign Het
Extl1 C T 4: 134,091,945 (GRCm39) V303I probably benign Het
Ezh1 G T 11: 101,094,630 (GRCm39) D387E probably damaging Het
Fbf1 T A 11: 116,043,775 (GRCm39) probably null Het
Fbxl12 T C 9: 20,550,472 (GRCm39) H84R probably damaging Het
Fbxo6 C T 4: 148,230,462 (GRCm39) V267I probably benign Het
Helz G T 11: 107,493,167 (GRCm39) A197S possibly damaging Het
Ikbke T C 1: 131,202,883 (GRCm39) probably null Het
Kbtbd13 A G 9: 65,297,619 (GRCm39) F439S possibly damaging Het
Kif7 G A 7: 79,351,934 (GRCm39) R943W probably damaging Het
Matr3 A G 18: 35,717,894 (GRCm39) D364G probably benign Het
Ncam1 T C 9: 49,434,875 (GRCm39) K624E probably damaging Het
Nup205 T C 6: 35,166,820 (GRCm39) S280P possibly damaging Het
Or4a66 A T 2: 88,531,011 (GRCm39) Y221N probably damaging Het
Or52a33 A C 7: 103,288,889 (GRCm39) C153G probably benign Het
Pira2 A T 7: 3,846,901 (GRCm39) S214T possibly damaging Het
Prss3b T C 6: 41,009,306 (GRCm39) Y176C probably damaging Het
Ptpn4 T A 1: 119,700,853 (GRCm39) I30F probably benign Het
Rnf144a T C 12: 26,360,779 (GRCm39) I253V possibly damaging Het
Sh3pxd2b T A 11: 32,373,302 (GRCm39) L823Q possibly damaging Het
Sh3rf3 A T 10: 58,842,898 (GRCm39) D288V probably damaging Het
Shprh T A 10: 11,054,485 (GRCm39) Y1031* probably null Het
Sidt1 T C 16: 44,111,657 (GRCm39) T173A possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Ssh3 C T 19: 4,315,399 (GRCm39) R309H probably benign Het
Tagap G T 17: 8,152,893 (GRCm39) G693W probably damaging Het
Tango2 T A 16: 18,119,403 (GRCm39) I143F probably damaging Het
Thsd7a T C 6: 12,468,928 (GRCm39) H550R probably damaging Het
Tmem131 T A 1: 36,920,423 (GRCm39) Q92H probably benign Het
Tnfrsf21 T C 17: 43,327,979 (GRCm39) L31P probably benign Het
Ttn A T 2: 76,730,487 (GRCm39) probably benign Het
Ubash3b T C 9: 40,926,268 (GRCm39) D493G probably damaging Het
Unc13a C T 8: 72,090,453 (GRCm39) G1411D possibly damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfc3h1 A T 10: 115,237,653 (GRCm39) R477S probably damaging Het
Zfp87 C T 13: 67,664,986 (GRCm39) R492K probably benign Het
Other mutations in Lrp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01953:Lrp12 APN 15 39,741,497 (GRCm39) missense probably damaging 1.00
IGL02501:Lrp12 APN 15 39,741,300 (GRCm39) missense probably damaging 1.00
IGL02850:Lrp12 APN 15 39,741,971 (GRCm39) missense probably damaging 1.00
IGL03365:Lrp12 APN 15 39,735,917 (GRCm39) missense probably benign
R0010:Lrp12 UTSW 15 39,741,672 (GRCm39) missense probably damaging 1.00
R0047:Lrp12 UTSW 15 39,741,635 (GRCm39) missense probably damaging 1.00
R0416:Lrp12 UTSW 15 39,742,307 (GRCm39) splice site probably benign
R0840:Lrp12 UTSW 15 39,739,554 (GRCm39) missense probably damaging 1.00
R1053:Lrp12 UTSW 15 39,741,377 (GRCm39) missense probably damaging 1.00
R1158:Lrp12 UTSW 15 39,741,827 (GRCm39) missense probably damaging 1.00
R1288:Lrp12 UTSW 15 39,741,799 (GRCm39) missense probably damaging 1.00
R1350:Lrp12 UTSW 15 39,741,646 (GRCm39) nonsense probably null
R1416:Lrp12 UTSW 15 39,742,019 (GRCm39) missense probably damaging 1.00
R1548:Lrp12 UTSW 15 39,735,902 (GRCm39) missense probably damaging 0.99
R1691:Lrp12 UTSW 15 39,735,661 (GRCm39) missense probably damaging 1.00
R1696:Lrp12 UTSW 15 39,741,757 (GRCm39) missense probably damaging 0.99
R2050:Lrp12 UTSW 15 39,735,985 (GRCm39) missense probably damaging 0.99
R2513:Lrp12 UTSW 15 39,739,507 (GRCm39) missense probably damaging 1.00
R3415:Lrp12 UTSW 15 39,741,678 (GRCm39) missense probably damaging 1.00
R3417:Lrp12 UTSW 15 39,741,678 (GRCm39) missense probably damaging 1.00
R4118:Lrp12 UTSW 15 39,741,361 (GRCm39) nonsense probably null
R4167:Lrp12 UTSW 15 39,748,409 (GRCm39) missense probably damaging 1.00
R4214:Lrp12 UTSW 15 39,735,976 (GRCm39) missense probably benign 0.33
R4643:Lrp12 UTSW 15 39,735,418 (GRCm39) missense probably damaging 1.00
R5008:Lrp12 UTSW 15 39,741,852 (GRCm39) missense probably damaging 1.00
R5061:Lrp12 UTSW 15 39,741,650 (GRCm39) missense probably damaging 1.00
R5165:Lrp12 UTSW 15 39,735,857 (GRCm39) missense probably benign
R5910:Lrp12 UTSW 15 39,739,439 (GRCm39) splice site probably null
R6038:Lrp12 UTSW 15 39,735,776 (GRCm39) missense probably damaging 0.99
R6038:Lrp12 UTSW 15 39,735,776 (GRCm39) missense probably damaging 0.99
R6047:Lrp12 UTSW 15 39,735,463 (GRCm39) missense probably damaging 1.00
R6351:Lrp12 UTSW 15 39,741,584 (GRCm39) missense probably damaging 1.00
R7026:Lrp12 UTSW 15 39,743,566 (GRCm39) missense probably damaging 1.00
R8306:Lrp12 UTSW 15 39,741,450 (GRCm39) missense probably damaging 1.00
R8469:Lrp12 UTSW 15 39,735,791 (GRCm39) missense probably damaging 0.99
R8544:Lrp12 UTSW 15 39,741,970 (GRCm39) nonsense probably null
R9320:Lrp12 UTSW 15 39,741,357 (GRCm39) missense probably damaging 1.00
Z1176:Lrp12 UTSW 15 39,741,519 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAACATGACTGAAGACTACGAATAC -3'
(R):5'- TGACCTTGCCTCAGACCAAG -3'

Sequencing Primer
(F):5'- GACTGAAGACTACGAATACATAATGC -3'
(R):5'- CCTCAGACCAAGTACAAGGGTTTAG -3'
Posted On 2018-05-04