Incidental Mutation 'R7026:Lrp12'
ID 545994
Institutional Source Beutler Lab
Gene Symbol Lrp12
Ensembl Gene ENSMUSG00000022305
Gene Name low density lipoprotein-related protein 12
Synonyms C820005L12Rik
MMRRC Submission 045127-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R7026 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 39733985-39807390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39743566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 123 (H123R)
Ref Sequence ENSEMBL: ENSMUSP00000105934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022916] [ENSMUST00000110305] [ENSMUST00000228575]
AlphaFold Q8BUJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000022916
AA Change: H142R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: H142R

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: H123R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: H123R

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
Predicted Effect probably benign
Transcript: ENSMUST00000228575
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,805,392 (GRCm39) M749L probably benign Het
Abcc2 A G 19: 43,818,974 (GRCm39) N1321S probably benign Het
Acsm2 T A 7: 119,191,450 (GRCm39) V506E probably damaging Het
Add2 G A 6: 86,063,965 (GRCm39) R88Q probably benign Het
Adgra3 A G 5: 50,118,083 (GRCm39) V1155A probably benign Het
Ahsg T A 16: 22,710,963 (GRCm39) D33E probably damaging Het
Alox12b A T 11: 69,048,131 (GRCm39) D20V possibly damaging Het
Alppl2 A G 1: 87,017,420 (GRCm39) probably null Het
Ankfn1 A G 11: 89,530,403 (GRCm39) *49Q probably null Het
Bcl11b T C 12: 107,882,851 (GRCm39) D488G probably damaging Het
Bcl2l10 T A 9: 75,258,364 (GRCm39) F175L probably benign Het
C2cd3 T A 7: 100,081,299 (GRCm39) D127E probably damaging Het
Cacna1c C T 6: 118,614,732 (GRCm39) V1311I probably damaging Het
Cd55b A T 1: 130,316,427 (GRCm39) I374K probably benign Het
Cfap36 T C 11: 29,172,565 (GRCm39) T267A probably benign Het
Cibar2 G A 8: 120,895,324 (GRCm39) H193Y probably damaging Het
Cog1 T C 11: 113,540,415 (GRCm39) L10P probably damaging Het
Dnah7a T A 1: 53,543,448 (GRCm39) M2241L probably benign Het
Dock10 G T 1: 80,479,504 (GRCm39) A1809E probably benign Het
Dock7 A T 4: 98,967,156 (GRCm39) D255E probably benign Het
Exph5 T C 9: 53,251,728 (GRCm39) F123L probably benign Het
Fbxw27 C A 9: 109,617,146 (GRCm39) K118N possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Get4 C T 5: 139,238,358 (GRCm39) R47W possibly damaging Het
Gm3676 G A 14: 41,366,072 (GRCm39) S81F probably benign Het
Gulp1 C T 1: 44,820,245 (GRCm39) P251S possibly damaging Het
Hhatl T C 9: 121,617,339 (GRCm39) D298G probably benign Het
Hsf2bp T A 17: 32,252,254 (GRCm39) K60N possibly damaging Het
Ints4 T A 7: 97,168,361 (GRCm39) V625D possibly damaging Het
Iqch T A 9: 63,432,421 (GRCm39) K286* probably null Het
Irak1bp1 T A 9: 82,712,084 (GRCm39) S2T possibly damaging Het
Kdm3b G A 18: 34,955,517 (GRCm39) V1135I possibly damaging Het
Lama3 C A 18: 12,649,605 (GRCm39) N181K probably damaging Het
Lrfn2 T G 17: 49,404,005 (GRCm39) S709R probably benign Het
Lrp1b A G 2: 41,159,234 (GRCm39) S1569P probably damaging Het
Lrp2 T G 2: 69,352,131 (GRCm39) Q635P probably damaging Het
Mboat2 T C 12: 24,998,381 (GRCm39) probably null Het
Mctp1 A G 13: 76,954,378 (GRCm39) T596A probably benign Het
Mroh9 T A 1: 162,888,251 (GRCm39) M275L probably benign Het
Ms4a10 A C 19: 10,944,869 (GRCm39) probably null Het
Myo9a C T 9: 59,722,617 (GRCm39) R560C probably damaging Het
Or11h4b A G 14: 50,918,716 (GRCm39) I125T probably damaging Het
Or5b107 A G 19: 13,142,779 (GRCm39) T134A probably benign Het
Or6z1 T A 7: 6,504,820 (GRCm39) H135L probably damaging Het
Ormdl3 A G 11: 98,474,808 (GRCm39) V45A possibly damaging Het
Parp4 T C 14: 56,858,049 (GRCm39) Y894H probably benign Het
Pigo G A 4: 43,023,380 (GRCm39) Q259* probably null Het
Prrc2a G A 17: 35,380,803 (GRCm39) P70S unknown Het
Rab3ip A G 10: 116,773,441 (GRCm39) I124T probably benign Het
Rap1b A G 10: 117,654,384 (GRCm39) I21T probably benign Het
Rasgrf2 T A 13: 92,131,732 (GRCm39) S642C probably damaging Het
Rb1 T C 14: 73,535,539 (GRCm39) E106G probably benign Het
Reps1 C A 10: 17,983,437 (GRCm39) R427S probably damaging Het
Rnf213 A C 11: 119,370,481 (GRCm39) H4760P possibly damaging Het
Rtl1 A G 12: 109,559,595 (GRCm39) I748T probably damaging Het
Sco1 A T 11: 66,944,683 (GRCm39) K102M probably damaging Het
Sec16b T C 1: 157,362,281 (GRCm39) M44T possibly damaging Het
Slc7a10 T C 7: 34,898,139 (GRCm39) M297T probably damaging Het
Smchd1 T C 17: 71,656,662 (GRCm39) H1935R probably benign Het
Sowaha G A 11: 53,370,050 (GRCm39) R229W probably damaging Het
Sptlc3 A T 2: 139,379,608 (GRCm39) M83L probably benign Het
Tbc1d9 T C 8: 83,968,192 (GRCm39) V431A probably benign Het
Tmem98 A G 11: 80,712,214 (GRCm39) E217G possibly damaging Het
Trim13 T A 14: 61,842,562 (GRCm39) L193* probably null Het
Trp53bp2 T C 1: 182,270,300 (GRCm39) S367P probably benign Het
Tsc2 T G 17: 24,845,713 (GRCm39) I202L probably damaging Het
Twf2 T A 9: 106,092,079 (GRCm39) V312E probably damaging Het
Usp34 G T 11: 23,311,622 (GRCm39) L471F probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging Het
Zfp1010 T A 2: 176,957,361 (GRCm39) I46F 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
R6392:Lrp12 UTSW 15 39,735,415 (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'- GGCATCTGACTCAAGCTTCTAATC -3'
(R):5'- ACATGGCATCTTTATGGACGTTC -3'

Sequencing Primer
(F):5'- AAGCTTCTAATCTTCATCTCAGCTG -3'
(R):5'- GCATCTTTATGGACGTTCTTGTC -3'
Posted On 2019-05-13