Incidental Mutation 'IGL02219:Lrpap1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrpap1
Ensembl Gene ENSMUSG00000029103
Gene Namelow density lipoprotein receptor-related protein associated protein 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02219
Quality Score
Chromosomal Location35091501-35105766 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 35096067 bp
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000030986]
Predicted Effect probably benign
Transcript: ENSMUST00000030986
SMART Domains Protein: ENSMUSP00000030986
Gene: ENSMUSG00000029103

Pfam:Alpha-2-MRAP_N 20 137 7.7e-45 PFAM
Pfam:Alpha-2-MRAP_C 148 360 3.4e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147028
Predicted Effect probably benign
Transcript: ENSMUST00000153664
SMART Domains Protein: ENSMUSP00000120233
Gene: ENSMUSG00000029103

Pfam:Alpha-2-MRAP_C 2 153 4.7e-48 PFAM
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 protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However, subtle abnormalities are seen in behavior, brain function and thyroid function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T C 7: 28,154,635 Y1675H probably damaging Het
A730013G03Rik A T 1: 192,833,383 noncoding transcript Het
Abcb10 G A 8: 123,954,427 H677Y probably benign Het
Ager T C 17: 34,600,120 V314A probably damaging Het
Asxl3 A G 18: 22,453,626 M158V possibly damaging Het
Atp1a2 A T 1: 172,279,718 M745K probably damaging Het
Atp1a2 G A 1: 172,279,731 Q741* probably null Het
Begain A G 12: 109,033,730 S577P probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Camk2b A G 11: 5,976,872 L497P possibly damaging Het
Cand2 T A 6: 115,803,812 I1219N probably damaging Het
Cckbr T A 7: 105,434,048 Y153N probably damaging Het
Cep250 T G 2: 155,991,594 V1812G probably benign Het
Cyp2c39 A T 19: 39,568,199 probably benign Het
Ddx43 T A 9: 78,416,719 M444K probably damaging Het
Dnm1 A T 2: 32,323,450 M506K probably benign Het
Duox2 A T 2: 122,294,664 H352Q probably benign Het
Fsip2 A G 2: 82,977,830 T1498A probably benign Het
Gcn1l1 A T 5: 115,613,767 Q2067L possibly damaging Het
Get4 G T 5: 139,263,629 probably null Het
Gm6370 G A 5: 146,493,643 A213T possibly damaging Het
Gpr135 T C 12: 72,070,273 Y240C probably damaging Het
Gstm5 T A 3: 107,898,031 L145Q probably damaging Het
Hoxb3 T C 11: 96,346,160 Y355H probably damaging Het
Hsf2 A C 10: 57,496,274 K108Q probably damaging Het
Kdm3a T C 6: 71,600,734 N694S probably benign Het
Mapk8ip3 T C 17: 24,899,558 T1162A probably damaging Het
Mettl14 T C 3: 123,374,891 probably benign Het
Mrgprx1 T C 7: 48,021,729 Y90C probably benign Het
Mybpc3 A T 2: 91,121,023 probably null Het
Nup88 C T 11: 70,969,692 G87D probably benign Het
Olfr1153 A G 2: 87,896,973 Y258C possibly damaging Het
Olfr1502 C T 19: 13,861,823 T10M probably damaging Het
Olfr39 A T 9: 20,286,460 T254S probably benign Het
Pan2 G A 10: 128,320,352 E1133K probably benign Het
Pcsk2 T C 2: 143,793,125 S307P probably damaging Het
Pdgfa C T 5: 138,986,195 V150I probably damaging Het
Phf12 T C 11: 77,984,196 C83R probably damaging Het
Pla2g2c A G 4: 138,736,008 Y71C probably damaging Het
Pou2f2 T A 7: 25,097,682 Q218L probably damaging Het
Prl8a9 C T 13: 27,559,370 V151I possibly damaging Het
Prop1 T C 11: 50,952,084 D92G probably damaging Het
Rnf13 A G 3: 57,796,223 Y116C probably damaging Het
Scrib T A 15: 76,065,036 K383* probably null Het
Slc44a5 T C 3: 154,239,159 Y138H possibly damaging Het
Stra6 G A 9: 58,140,469 V108M probably benign Het
Trove2 A G 1: 143,761,275 C400R possibly damaging Het
Tspan10 G T 11: 120,446,372 A323S probably benign Het
Ttc22 T A 4: 106,638,490 V347D probably damaging Het
Ugt1a10 C T 1: 88,056,058 L193F probably benign Het
Vps13d G T 4: 145,168,146 H457N probably benign Het
Vrtn A G 12: 84,648,833 Y119C probably damaging Het
Xpnpep3 T C 15: 81,427,456 F121S probably damaging Het
Other mutations in Lrpap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03102:Lrpap1 APN 5 35093350 missense probably damaging 0.98
R0029:Lrpap1 UTSW 5 35097677 missense possibly damaging 0.86
R0089:Lrpap1 UTSW 5 35094888 missense possibly damaging 0.93
R1944:Lrpap1 UTSW 5 35097630 missense probably benign 0.00
R1955:Lrpap1 UTSW 5 35102412 missense probably damaging 1.00
R3877:Lrpap1 UTSW 5 35098203 missense probably benign 0.04
R4004:Lrpap1 UTSW 5 35105544 nonsense probably null
R4077:Lrpap1 UTSW 5 35096037 missense possibly damaging 0.74
R4078:Lrpap1 UTSW 5 35096037 missense possibly damaging 0.74
R4079:Lrpap1 UTSW 5 35096037 missense possibly damaging 0.74
R4782:Lrpap1 UTSW 5 35099278 missense probably damaging 0.99
R4828:Lrpap1 UTSW 5 35102421 missense possibly damaging 0.95
R6672:Lrpap1 UTSW 5 35099233 missense probably benign 0.02
R6925:Lrpap1 UTSW 5 35102536 missense probably benign
R8963:Lrpap1 UTSW 5 35097657 missense probably benign
Posted On2015-04-16