Incidental Mutation 'R0016:Lrp2bp'
ID8297
Institutional Source Beutler Lab
Gene Symbol Lrp2bp
Ensembl Gene ENSMUSG00000031637
Gene NameLrp2 binding protein
SynonymsMegBP, 4930479L12Rik, 1700113N17Rik
MMRRC Submission 038311-MU
Accession Numbers

Ncbi RefSeq: NM_026278.3; MGI:1914870

Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #R0016 (G1)
Quality Score
Status Validated
Chromosome8
Chromosomal Location45999303-46029477 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 46012031 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 62 (F62L)
Ref Sequence ENSEMBL: ENSMUSP00000135210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066451] [ENSMUST00000110380] [ENSMUST00000110381] [ENSMUST00000145597]
Predicted Effect probably damaging
Transcript: ENSMUST00000066451
AA Change: F83L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067177
Gene: ENSMUSG00000031637
AA Change: F83L

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
SEL1 110 145 4.45e-3 SMART
SEL1 153 188 5.07e-7 SMART
SEL1 193 226 6.3e-3 SMART
SEL1 227 262 3.9e-8 SMART
Blast:SEL1 263 293 1e-5 BLAST
SEL1 317 352 7.57e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110380
AA Change: F62L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106009
Gene: ENSMUSG00000031637
AA Change: F62L

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
SEL1 89 124 4.45e-3 SMART
SEL1 132 167 5.07e-7 SMART
SEL1 172 205 6.3e-3 SMART
SEL1 206 241 3.9e-8 SMART
Blast:SEL1 242 272 1e-5 BLAST
SEL1 296 331 7.57e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110381
AA Change: F62L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106010
Gene: ENSMUSG00000031637
AA Change: F62L

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
SEL1 89 124 4.45e-3 SMART
SEL1 132 167 5.07e-7 SMART
SEL1 172 205 6.3e-3 SMART
SEL1 206 241 3.9e-8 SMART
Blast:SEL1 242 272 1e-5 BLAST
SEL1 296 331 7.57e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138230
Predicted Effect probably damaging
Transcript: ENSMUST00000145597
AA Change: F62L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135210
Gene: ENSMUSG00000031637
AA Change: F62L

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
SEL1 89 124 4.45e-3 SMART
SEL1 132 167 5.07e-7 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 81.7%
  • 3x: 74.6%
  • 10x: 53.6%
  • 20x: 32.4%
Validation Efficiency 93% (85/91)
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,294,800 V1181G probably benign Het
Adamts12 A T 15: 11,217,829 I291F probably damaging Het
Aspm G C 1: 139,479,544 Q2056H probably benign Het
BC067074 T C 13: 113,366,105 Y115H probably damaging Het
C7 A T 15: 5,046,924 V122E probably benign Het
Casp12 A T 9: 5,352,844 Q152L probably null Het
Cpne8 A G 15: 90,501,405 probably benign Het
Cyp2j7 T A 4: 96,202,147 I347F probably damaging Het
Dync2h1 A G 9: 7,144,346 probably benign Het
Echdc1 A T 10: 29,322,421 probably benign Het
Elovl3 T A 19: 46,132,158 F30Y probably damaging Het
Fam208b A C 13: 3,585,170 probably null Het
Fgd3 C T 13: 49,296,609 D55N probably benign Het
Fhod1 T C 8: 105,331,655 E823G possibly damaging Het
Gapvd1 A G 2: 34,699,913 probably benign Het
Helz2 C A 2: 181,232,759 G1981C probably damaging Het
Kif27 A G 13: 58,354,714 V50A probably damaging Het
Marf1 G A 16: 14,152,265 H197Y probably damaging Het
Mon2 C T 10: 123,035,546 V389M probably damaging Het
Myh8 A G 11: 67,298,525 K1176E probably damaging Het
Nckap1l A G 15: 103,475,636 T554A probably benign Het
Oog3 A G 4: 144,158,071 Y432H probably damaging Het
Sorbs1 A G 19: 40,314,738 probably benign Het
Srgap2 A G 1: 131,349,462 M349T possibly damaging Het
Stc2 A T 11: 31,360,177 D286E probably benign Het
Stk31 T C 6: 49,437,377 Y482H probably damaging Het
Sycp2l A G 13: 41,157,500 probably benign Het
Tcrg-V5 G A 13: 19,192,719 W112* probably null Het
Trim27 A T 13: 21,191,229 E310V probably benign Het
Uvrag T C 7: 98,991,981 K284R probably benign Het
Xylt2 A G 11: 94,669,640 S270P probably damaging Het
Zwint T C 10: 72,657,198 probably benign Het
Other mutations in Lrp2bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Lrp2bp APN 8 46023044 missense probably damaging 1.00
PIT4280001:Lrp2bp UTSW 8 46023011 missense probably damaging 0.98
R0016:Lrp2bp UTSW 8 46012031 missense probably damaging 1.00
R0046:Lrp2bp UTSW 8 46013155 nonsense probably null
R0046:Lrp2bp UTSW 8 46013155 nonsense probably null
R0514:Lrp2bp UTSW 8 46011958 missense probably damaging 1.00
R0838:Lrp2bp UTSW 8 46025124 missense possibly damaging 0.87
R1465:Lrp2bp UTSW 8 46025235 missense possibly damaging 0.93
R1465:Lrp2bp UTSW 8 46025235 missense possibly damaging 0.93
R1735:Lrp2bp UTSW 8 46011988 missense probably benign 0.26
R1842:Lrp2bp UTSW 8 46011115 missense probably benign
R2191:Lrp2bp UTSW 8 46013169 missense probably benign 0.07
R2192:Lrp2bp UTSW 8 46013169 missense probably benign 0.07
R4716:Lrp2bp UTSW 8 46013171 missense probably benign 0.23
R6722:Lrp2bp UTSW 8 46020563 critical splice donor site probably null
R6789:Lrp2bp UTSW 8 46013114 missense possibly damaging 0.56
R7643:Lrp2bp UTSW 8 46020527 splice site probably null
Protein Function and Prediction

LRP2BP (alternatively, megalin-binding protein, MegBP) is a scaffold protein that has four ankyrin repeats that are proposed to link the cytoskeleton and the membranes of intracellular organelles (1). LRP2BP associates with megalin, a member of the LDL receptor gene family that functions in forebrain development and in vitamin D metabolism (2).

Expression/Localization

Human LRP2BP is expressed in the testis, small intestine, colon and blood leukocytes, and in human pancreatic adenocarcinoma cells (1). The LRP2BP protein localizes in both the cytoplasm and the nucleus (1).

References
Posted On2012-11-21
Science WriterAnne Murray