Incidental Mutation 'R0046:Lrp2bp'
ID16015
Institutional Source Beutler Lab
Gene Symbol Lrp2bp
Ensembl Gene ENSMUSG00000031637
Gene NameLrp2 binding protein
SynonymsMegBP, 4930479L12Rik, 1700113N17Rik
MMRRC Submission 038340-MU
Accession Numbers

Ncbi RefSeq: NM_026278.3; MGI:1914870

Is this an essential gene? Possibly essential (E-score: 0.646) question?
Stock #R0046 (G1)
Quality Score
Status Validated
Chromosome8
Chromosomal Location45999303-46029477 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 46013155 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 100 (Y100*)
Ref Sequence ENSEMBL: ENSMUSP00000135210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066451] [ENSMUST00000110380] [ENSMUST00000110381] [ENSMUST00000145597]
Predicted Effect probably null
Transcript: ENSMUST00000066451
AA Change: Y121*
SMART Domains Protein: ENSMUSP00000067177
Gene: ENSMUSG00000031637
AA Change: Y121*

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 null
Transcript: ENSMUST00000110380
AA Change: Y100*
SMART Domains Protein: ENSMUSP00000106009
Gene: ENSMUSG00000031637
AA Change: Y100*

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 null
Transcript: ENSMUST00000110381
AA Change: Y100*
SMART Domains Protein: ENSMUSP00000106010
Gene: ENSMUSG00000031637
AA Change: Y100*

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 null
Transcript: ENSMUST00000145597
AA Change: Y100*
SMART Domains Protein: ENSMUSP00000135210
Gene: ENSMUSG00000031637
AA Change: Y100*

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 0.624 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.2%
  • 10x: 78.3%
  • 20x: 64.0%
Validation Efficiency 98% (86/88)
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A T 4: 56,743,877 K135* probably null Het
Adamts16 A G 13: 70,763,460 S871P probably benign Het
Adcy10 A T 1: 165,539,834 I558F probably damaging Het
Adsl T G 15: 80,962,788 probably null Het
Aldob T C 4: 49,543,842 I47V possibly damaging Het
Alkbh8 A G 9: 3,343,247 E46G probably damaging Het
Atp1a4 A T 1: 172,240,097 L533Q probably benign Het
Auts2 T C 5: 131,770,785 noncoding transcript Het
B3gnt3 T C 8: 71,692,923 Y267C probably damaging Het
BC051142 T C 17: 34,460,121 probably null Het
Ccdc39 A G 3: 33,844,152 F15L possibly damaging Het
Cntnap5c T G 17: 58,359,300 D1108E probably benign Het
Col14a1 G A 15: 55,408,963 probably benign Het
Col9a3 G A 2: 180,609,487 A317T possibly damaging Het
Cpt1c A T 7: 44,959,832 probably benign Het
Cpt2 A G 4: 107,904,362 probably null Het
Crebrf T A 17: 26,763,334 L565M probably damaging Het
Dmxl1 T A 18: 49,878,082 V1102E probably benign Het
Dock4 G A 12: 40,737,360 probably benign Het
Dpp3 G T 19: 4,914,643 N545K probably damaging Het
Elmo2 T A 2: 165,298,726 N275I probably damaging Het
Farp1 A G 14: 121,255,513 K509R probably benign Het
Flg T A 3: 93,277,721 probably benign Het
Gas2l2 A T 11: 83,421,910 W859R probably damaging Het
Gatm T C 2: 122,600,744 D254G probably damaging Het
Gjd4 T A 18: 9,280,998 I27F probably damaging Het
Gm19410 A G 8: 35,802,645 E1148G probably benign Het
Haus5 C T 7: 30,654,180 V591I probably benign Het
Kcnab3 G A 11: 69,330,227 probably null Het
Limk1 T C 5: 134,672,761 Y96C probably damaging Het
Ly75 A T 2: 60,339,457 probably benign Het
Mamstr T G 7: 45,641,770 probably benign Het
Man1a A G 10: 53,919,187 Y657H probably damaging Het
Marf1 G A 16: 14,111,727 P1672S possibly damaging Het
Mboat7 T C 7: 3,683,818 Y341C probably damaging Het
Nhsl1 A T 10: 18,525,669 N881I probably damaging Het
Nox3 T C 17: 3,682,961 Y225C probably benign Het
Olfr1214 C T 2: 88,987,349 M284I probably benign Het
Olfr1260 C T 2: 89,978,507 T243I probably damaging Het
Pclo C T 5: 14,540,479 T931M unknown Het
Pfas G T 11: 68,990,467 R1025S probably benign Het
Prg4 T C 1: 150,456,086 T279A possibly damaging Het
Psma1 A T 7: 114,267,205 probably benign Het
Rab11fip1 A G 8: 27,153,121 L550P probably damaging Het
Rgs12 T A 5: 34,965,320 I149N probably damaging Het
Rmnd5a T C 6: 71,399,231 H195R probably damaging Het
Rnf17 T C 14: 56,471,373 L750P probably damaging Het
Rtcb T C 10: 85,957,656 N18D probably benign Het
Seh1l T C 18: 67,792,016 probably null Het
Sptbn2 T C 19: 4,745,377 probably benign Het
Stag3 C T 5: 138,283,023 probably benign Het
Taar2 G A 10: 23,941,495 R311H probably benign Het
Taok3 C T 5: 117,272,229 Q829* probably null Het
Ttn A G 2: 76,951,542 probably benign Het
Unc79 A G 12: 103,125,681 E1756G probably damaging Het
Usp35 A T 7: 97,313,597 probably null Het
Zbtb40 A G 4: 136,987,278 C1067R probably damaging 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
R0016:Lrp2bp UTSW 8 46012031 missense probably damaging 1.00
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
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 On2013-01-08
Science WriterAnne Murray