Incidental Mutation 'R4079:Lrpap1'
ID 316742
Institutional Source Beutler Lab
Gene Symbol Lrpap1
Ensembl Gene ENSMUSG00000029103
Gene Name low density lipoprotein receptor-related protein associated protein 1
Synonyms RAP
MMRRC Submission 040976-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4079 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 35248834-35263043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35253381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 261 (I261T)
Ref Sequence ENSEMBL: ENSMUSP00000030986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030986]
AlphaFold P55302
Predicted Effect possibly damaging
Transcript: ENSMUST00000030986
AA Change: I261T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030986
Gene: ENSMUSG00000029103
AA Change: I261T

DomainStartEndE-ValueType
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: ENSMUST00000135207
AA Change: *72Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147028
Predicted Effect unknown
Transcript: ENSMUST00000153664
AA Change: I53T
SMART Domains Protein: ENSMUSP00000120233
Gene: ENSMUSG00000029103
AA Change: I53T

DomainStartEndE-ValueType
Pfam:Alpha-2-MRAP_C 2 153 4.7e-48 PFAM
Meta Mutation Damage Score 0.1085 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (73/75)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 C G 4: 126,247,473 (GRCm39) probably null Het
Ankfy1 C A 11: 72,580,835 (GRCm39) probably benign Het
Ap4b1 T A 3: 103,720,694 (GRCm39) N121K probably damaging Het
Arhgef12 T C 9: 42,886,588 (GRCm39) M1131V probably damaging Het
Arl5c A T 11: 97,884,327 (GRCm39) I88N probably damaging Het
Armc9 A T 1: 86,140,851 (GRCm39) probably benign Het
Bnc1 T C 7: 81,623,508 (GRCm39) E573G probably damaging Het
Btaf1 A G 19: 36,963,879 (GRCm39) T817A probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cadm3 A G 1: 173,169,236 (GRCm39) V293A probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cbfa2t3 A G 8: 123,374,434 (GRCm39) probably null Het
Ccdc18 C T 5: 108,306,394 (GRCm39) Q270* probably null Het
Cdc45 A T 16: 18,630,110 (GRCm39) V19D probably damaging Het
Cfap57 C A 4: 118,456,194 (GRCm39) S500I probably benign Het
Cnga3 A T 1: 37,280,946 (GRCm39) Q47L possibly damaging Het
Corin T C 5: 72,661,226 (GRCm39) D89G probably benign Het
Cox16 A T 12: 81,521,109 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,006,791 (GRCm39) N50S probably benign Het
Diaph1 T A 18: 37,986,636 (GRCm39) E1116D possibly damaging Het
Dlg5 T C 14: 24,198,328 (GRCm39) D1535G possibly damaging Het
Enpp1 A G 10: 24,544,905 (GRCm39) probably null Het
F13b T A 1: 139,429,508 (GRCm39) F9I unknown Het
Fcer1a C T 1: 173,052,920 (GRCm39) C36Y probably damaging Het
Fcho2 A G 13: 98,892,120 (GRCm39) V318A probably damaging Het
Fzd9 A G 5: 135,278,490 (GRCm39) V465A probably benign Het
Hbs1l T C 10: 21,228,501 (GRCm39) V493A probably damaging Het
Hgs T A 11: 120,373,874 (GRCm39) S723T probably benign Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Kpna7 A G 5: 144,942,737 (GRCm39) I83T possibly damaging Het
Llgl1 C A 11: 60,601,110 (GRCm39) probably null Het
Lrig3 A C 10: 125,845,656 (GRCm39) E695A probably damaging Het
Mfn1 T G 3: 32,596,998 (GRCm39) L152W probably damaging Het
Mog A G 17: 37,323,302 (GRCm39) F212S probably damaging Het
Mpeg1 A G 19: 12,439,634 (GRCm39) N364S probably damaging Het
Mtmr3 C T 11: 4,441,057 (GRCm39) R531Q probably damaging Het
Mx2 A G 16: 97,357,236 (GRCm39) N443S probably damaging Het
Nfatc3 T C 8: 106,806,123 (GRCm39) Y323H probably damaging Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Obscn A G 11: 58,929,189 (GRCm39) V6145A probably benign Het
Or52x1 A T 7: 104,853,228 (GRCm39) H107Q probably damaging Het
Or8u10 A G 2: 85,915,656 (GRCm39) V155A possibly damaging Het
Patl1 C T 19: 11,908,994 (GRCm39) A467V probably damaging Het
Pdss2 A T 10: 43,278,518 (GRCm39) M342L probably benign Het
Phax A G 18: 56,709,051 (GRCm39) N183S possibly damaging Het
Pnck A T X: 72,701,761 (GRCm39) V93E probably damaging Het
Prol1 A G 5: 88,476,075 (GRCm39) N155S unknown Het
Ptprk G A 10: 28,139,508 (GRCm39) V78I probably benign Het
Ptpru A T 4: 131,526,021 (GRCm39) probably null Het
Ptprv A G 1: 135,038,168 (GRCm39) noncoding transcript Het
Ranbp3l A G 15: 9,060,838 (GRCm39) N233S probably damaging Het
Rapgefl1 A G 11: 98,740,803 (GRCm39) T552A probably benign Het
Rasgrp1 A G 2: 117,115,510 (GRCm39) S693P probably benign Het
Scyl2 A T 10: 89,476,458 (GRCm39) M889K probably benign Het
Serpina3a C T 12: 104,085,934 (GRCm39) Q320* probably null Het
Slc12a1 A T 2: 125,042,543 (GRCm39) N733I possibly damaging Het
Snap47 C T 11: 59,319,377 (GRCm39) V254I probably benign Het
Speer4e2 A T 5: 15,027,663 (GRCm39) L71Q probably damaging Het
St6galnac2 A T 11: 116,572,724 (GRCm39) L244Q possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tjp2 A T 19: 24,086,182 (GRCm39) V780E possibly damaging Het
Tns1 G A 1: 74,034,467 (GRCm39) R192C probably damaging Het
Trav6-3 T C 14: 53,667,537 (GRCm39) L3P possibly damaging Het
Ung G T 5: 114,268,684 (GRCm39) probably null Het
Usp32 T A 11: 84,930,055 (GRCm39) Y574F probably damaging Het
Other mutations in Lrpap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02219:Lrpap1 APN 5 35,253,411 (GRCm39) splice site probably benign
IGL03102:Lrpap1 APN 5 35,250,694 (GRCm39) missense probably damaging 0.98
R0029:Lrpap1 UTSW 5 35,255,021 (GRCm39) missense possibly damaging 0.86
R0089:Lrpap1 UTSW 5 35,252,232 (GRCm39) missense possibly damaging 0.93
R1944:Lrpap1 UTSW 5 35,254,974 (GRCm39) missense probably benign 0.00
R1955:Lrpap1 UTSW 5 35,259,756 (GRCm39) missense probably damaging 1.00
R3877:Lrpap1 UTSW 5 35,255,547 (GRCm39) missense probably benign 0.04
R4004:Lrpap1 UTSW 5 35,262,888 (GRCm39) nonsense probably null
R4077:Lrpap1 UTSW 5 35,253,381 (GRCm39) missense possibly damaging 0.74
R4078:Lrpap1 UTSW 5 35,253,381 (GRCm39) missense possibly damaging 0.74
R4782:Lrpap1 UTSW 5 35,256,622 (GRCm39) missense probably damaging 0.99
R4828:Lrpap1 UTSW 5 35,259,765 (GRCm39) missense possibly damaging 0.95
R6672:Lrpap1 UTSW 5 35,256,577 (GRCm39) missense probably benign 0.02
R6925:Lrpap1 UTSW 5 35,259,880 (GRCm39) missense probably benign
R8963:Lrpap1 UTSW 5 35,255,001 (GRCm39) missense probably benign
R9164:Lrpap1 UTSW 5 35,262,923 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATTCAGAAGGTATTGCCCC -3'
(R):5'- CCGGGTTTCAATCAAGCTGC -3'

Sequencing Primer
(F):5'- TTCAGAAGGTATTGCCCCCATCAG -3'
(R):5'- CGGGTTTCAATCAAGCTGCATCTAAG -3'
Posted On 2015-05-15