Incidental Mutation 'IGL01714:Lrp3'
ID104884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrp3
Ensembl Gene ENSMUSG00000001802
Gene Namelow density lipoprotein receptor-related protein 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #IGL01714
Quality Score
Status
Chromosome7
Chromosomal Location35200027-35215498 bp(-) (GRCm38)
Type of Mutationunclassified (4957 bp from exon)
DNA Base Change (assembly) T to G at 35206071 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001854] [ENSMUST00000118444] [ENSMUST00000122409]
Predicted Effect probably null
Transcript: ENSMUST00000001854
SMART Domains Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495

DomainStartEndE-ValueType
low complexity region 14 37 N/A INTRINSIC
Pfam:AA_permease_2 46 474 4.8e-65 PFAM
Pfam:AA_permease 51 467 9.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118444
AA Change: I76L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802
AA Change: I76L

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
CUB 43 159 9.97e-20 SMART
LDLa 165 202 7.21e-11 SMART
LDLa 211 251 1.37e-11 SMART
CUB 254 365 1.98e-3 SMART
LDLa 367 414 1.85e-1 SMART
LDLa 415 453 4.44e-3 SMART
LDLa 454 490 8.74e-10 SMART
transmembrane domain 497 519 N/A INTRINSIC
low complexity region 584 606 N/A INTRINSIC
low complexity region 641 652 N/A INTRINSIC
low complexity region 674 684 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122409
AA Change: I97L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802
AA Change: I97L

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
CUB 64 180 9.97e-20 SMART
LDLa 186 223 7.21e-11 SMART
LDLa 232 272 1.37e-11 SMART
CUB 275 386 1.98e-3 SMART
LDLa 388 435 1.85e-1 SMART
LDLa 436 474 4.44e-3 SMART
LDLa 475 511 8.74e-10 SMART
transmembrane domain 518 540 N/A INTRINSIC
low complexity region 605 627 N/A INTRINSIC
low complexity region 662 673 N/A INTRINSIC
low complexity region 695 705 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155404
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,569 probably null Het
Acvrl1 T A 15: 101,137,370 I259N probably damaging Het
Ahctf1 A G 1: 179,795,877 S59P probably damaging Het
Bcas1 T C 2: 170,384,182 probably benign Het
Ccdc33 T C 9: 58,029,870 N682S possibly damaging Het
Celf1 T C 2: 91,009,207 S326P possibly damaging Het
Cntn1 T A 15: 92,253,989 C436* probably null Het
Cyp2d40 T G 15: 82,761,240 D142A possibly damaging Het
Dnhd1 C T 7: 105,720,942 L4525F probably damaging Het
Drosha A G 15: 12,878,784 Y732C probably damaging Het
Edn1 A G 13: 42,305,014 N101S probably benign Het
Faxc C T 4: 21,936,688 P108S probably damaging Het
Glb1l2 C T 9: 26,768,418 probably null Het
Gm20498 A G 12: 81,510,890 I47T probably damaging Het
Gm4952 G T 19: 12,624,711 R161L probably benign Het
Hipk2 A T 6: 38,819,182 Y51N probably damaging Het
Id4 T G 13: 48,261,790 I98S probably damaging Het
Klf6 T C 13: 5,866,659 S268P probably benign Het
Kmt2c G T 5: 25,313,400 T2427N probably benign Het
Lrrc66 A G 5: 73,629,977 I10T probably benign Het
Mapkap1 T G 2: 34,518,843 V281G probably damaging Het
Ncor1 T A 11: 62,334,584 I1054F possibly damaging Het
Olfr1061 T C 2: 86,413,800 N84S probably benign Het
Ppp1r9b C A 11: 95,005,354 T817N probably damaging Het
Prkd2 T A 7: 16,863,942 I659N probably damaging Het
Radil T C 5: 142,543,397 probably benign Het
Smarcd1 C T 15: 99,712,421 T474I probably damaging Het
Srd5a1 C T 13: 69,611,062 W62* probably null Het
St5 A G 7: 109,570,062 S9P probably damaging Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Ttn T A 2: 76,857,179 probably benign Het
Vmn1r77 A T 7: 12,041,350 I18F probably benign Het
Xrcc5 A T 1: 72,329,984 K332N probably damaging Het
Other mutations in Lrp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Lrp3 APN 7 35206028 splice site probably benign
IGL03033:Lrp3 APN 7 35202627 missense possibly damaging 0.61
IGL03166:Lrp3 APN 7 35202480 missense probably benign 0.00
R0416:Lrp3 UTSW 7 35202353 missense probably benign
R0733:Lrp3 UTSW 7 35202120 missense possibly damaging 0.93
R0907:Lrp3 UTSW 7 35203293 missense probably damaging 0.99
R1437:Lrp3 UTSW 7 35213170 missense probably damaging 1.00
R1591:Lrp3 UTSW 7 35202365 missense probably benign 0.03
R1625:Lrp3 UTSW 7 35203925 missense probably damaging 1.00
R1703:Lrp3 UTSW 7 35213161 missense possibly damaging 0.95
R3976:Lrp3 UTSW 7 35204105 missense probably benign 0.06
R4196:Lrp3 UTSW 7 35203410 missense probably damaging 1.00
R4679:Lrp3 UTSW 7 35203940 missense probably damaging 1.00
R5686:Lrp3 UTSW 7 35203485 missense possibly damaging 0.84
R5836:Lrp3 UTSW 7 35203322 missense probably damaging 1.00
R6160:Lrp3 UTSW 7 35204123 missense possibly damaging 0.79
R6342:Lrp3 UTSW 7 35202306 missense probably benign 0.01
R6364:Lrp3 UTSW 7 35203709 missense probably benign 0.03
R6415:Lrp3 UTSW 7 35204168 missense probably benign 0.00
R6502:Lrp3 UTSW 7 35203988 missense possibly damaging 0.89
R6747:Lrp3 UTSW 7 35211437 missense probably benign
Posted On2014-01-21