Incidental Mutation 'IGL03365:Lrp12'
ID 420067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrp12
Ensembl Gene ENSMUSG00000022305
Gene Name low density lipoprotein-related protein 12
Synonyms C820005L12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL03365
Quality Score
Status
Chromosome 15
Chromosomal Location 39733985-39807390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39735917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 672 (S672T)
Ref Sequence ENSEMBL: ENSMUSP00000105934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022916] [ENSMUST00000110305]
AlphaFold Q8BUJ9
Predicted Effect probably benign
Transcript: ENSMUST00000022916
AA Change: S691T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: S691T

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 benign
Transcript: ENSMUST00000110305
AA Change: S672T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: S672T

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
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 25,202,809 (GRCm39) probably benign Het
Adam6a T A 12: 113,507,765 (GRCm39) I46N possibly damaging Het
Adipor1 A G 1: 134,359,380 (GRCm39) D371G possibly damaging Het
Akr1c21 C T 13: 4,633,851 (GRCm39) P307S probably benign Het
Aoc1l3 A G 6: 48,965,531 (GRCm39) D513G probably damaging Het
Asxl1 T A 2: 153,243,674 (GRCm39) I1408N probably damaging Het
Avil T C 10: 126,846,852 (GRCm39) V472A probably damaging Het
Bpifa6 C A 2: 153,831,204 (GRCm39) Q257K possibly damaging Het
Cacna2d4 G T 6: 119,248,225 (GRCm39) V380L probably benign Het
Clip1 A C 5: 123,721,649 (GRCm39) S1111A probably damaging Het
Dennd4c A G 4: 86,725,663 (GRCm39) probably null Het
Dock8 C T 19: 25,077,048 (GRCm39) P506L possibly damaging Het
Ecsit A C 9: 21,987,822 (GRCm39) H72Q probably damaging Het
Eif1b T A 9: 120,323,186 (GRCm39) D15E probably benign Het
Enpp1 A G 10: 24,544,923 (GRCm39) Y319H probably damaging Het
Fat3 T C 9: 15,907,765 (GRCm39) N2746D probably damaging Het
Fgf20 G T 8: 40,732,932 (GRCm39) L115I possibly damaging Het
Hip1r C T 5: 124,138,230 (GRCm39) R775W probably damaging Het
Hycc1 A T 5: 24,188,158 (GRCm39) Y245N probably benign Het
Morf4l2 A G X: 135,634,464 (GRCm39) Y255H probably benign Het
Mri1 A G 8: 84,978,262 (GRCm39) V343A possibly damaging Het
Mybphl T A 3: 108,272,314 (GRCm39) M1K probably null Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Ofd1 C A X: 165,175,512 (GRCm39) V951F probably damaging Het
Or4k51 G T 2: 111,584,772 (GRCm39) M59I possibly damaging Het
Or51r1 G T 7: 102,227,836 (GRCm39) V45F probably benign Het
Or6c208 T A 10: 129,224,108 (GRCm39) V202D possibly damaging Het
Parp12 G A 6: 39,079,581 (GRCm39) R310W probably damaging Het
Pcdh11x T A X: 119,425,935 (GRCm39) D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 (GRCm39) probably benign Het
Ptprz1 T A 6: 23,030,581 (GRCm39) probably benign Het
Qser1 T A 2: 104,617,344 (GRCm39) N1156I probably damaging Het
Rgs3 T A 4: 62,607,912 (GRCm39) D59E probably benign Het
Rims2 T C 15: 39,339,937 (GRCm39) F917S probably damaging Het
Sap30bp G A 11: 115,855,078 (GRCm39) V263M possibly damaging Het
Scart2 T A 7: 139,876,682 (GRCm39) V691E probably damaging Het
Scfd2 G T 5: 74,691,596 (GRCm39) H229N possibly damaging Het
Sspo T C 6: 48,436,349 (GRCm39) V1233A possibly damaging Het
Stam T A 2: 14,151,201 (GRCm39) Y519* probably null Het
Synj2 A G 17: 6,069,679 (GRCm39) T602A probably damaging Het
Tas2r126 C T 6: 42,412,391 (GRCm39) A308V probably benign Het
Tm4sf20 T C 1: 82,745,948 (GRCm39) probably benign Het
Ttc23 G A 7: 67,312,085 (GRCm39) probably benign Het
Vmn1r90 T C 7: 14,295,229 (GRCm39) I290V probably damaging Het
Xirp1 A C 9: 119,847,605 (GRCm39) L426W probably damaging Het
Zgrf1 T G 3: 127,392,423 (GRCm39) F430L possibly damaging 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
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
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
Posted On 2016-08-02