Incidental Mutation 'R3877:Lrpap1'
ID 276896
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 040904-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3877 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 35248834-35263043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35255547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 184 (E184G)
Ref Sequence ENSEMBL: ENSMUSP00000030986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030986]
AlphaFold P55302
Predicted Effect probably benign
Transcript: ENSMUST00000030986
AA Change: E184G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030986
Gene: ENSMUSG00000029103
AA Change: E184G

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: ENSMUST00000132754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152028
Predicted Effect probably benign
Transcript: ENSMUST00000153664
SMART Domains Protein: ENSMUSP00000120233
Gene: ENSMUSG00000029103

DomainStartEndE-ValueType
Pfam:Alpha-2-MRAP_C 2 153 4.7e-48 PFAM
Meta Mutation Damage Score 0.1981 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 G A 8: 41,249,671 (GRCm39) V594I possibly damaging Het
Adgb A T 10: 10,318,227 (GRCm39) probably null Het
Adgrb3 A C 1: 25,150,906 (GRCm39) L1109R probably damaging Het
Angptl4 G A 17: 33,996,008 (GRCm39) P323S possibly damaging Het
Arhgap21 A T 2: 20,864,717 (GRCm39) M1197K probably damaging Het
Arhgef40 A G 14: 52,239,742 (GRCm39) T1319A probably damaging Het
C4bp A G 1: 130,575,764 (GRCm39) probably null Het
Cd200r1 T C 16: 44,610,374 (GRCm39) S161P possibly damaging Het
Ckap5 A G 2: 91,445,495 (GRCm39) K1711E possibly damaging Het
Cldn19 T C 4: 119,114,094 (GRCm39) S79P possibly damaging Het
Cplane1 T C 15: 8,251,427 (GRCm39) S1900P probably benign Het
Dnah17 T G 11: 117,915,533 (GRCm39) N4334T probably damaging Het
Dpm2 G A 2: 32,462,412 (GRCm39) probably null Het
Eef1a2 A T 2: 180,794,626 (GRCm39) V191E probably damaging Het
Gmds G A 13: 32,411,248 (GRCm39) T62I probably damaging Het
Hyal5 A T 6: 24,876,630 (GRCm39) I168F probably damaging Het
Idh3a T C 9: 54,499,679 (GRCm39) V31A probably benign Het
Inf2 C A 12: 112,577,264 (GRCm39) A1036E unknown Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kidins220 T A 12: 25,051,564 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b A G 2: 41,335,206 (GRCm39) C779R probably damaging Het
Lrp2 A G 2: 69,289,816 (GRCm39) probably null Het
Lrp2 G A 2: 69,379,391 (GRCm39) T107M probably damaging Het
Mapre1 C T 2: 153,588,201 (GRCm39) T8M possibly damaging Het
Mms19 G A 19: 41,954,695 (GRCm39) Q75* probably null Het
Mtcl1 T C 17: 66,649,949 (GRCm39) I1390V probably damaging Het
Muc5b A G 7: 141,411,289 (GRCm39) S1412G unknown Het
Myh4 A T 11: 67,148,009 (GRCm39) Q1686L probably benign Het
Or1e25 A T 11: 73,493,979 (GRCm39) D191V probably damaging Het
Or9s13 A T 1: 92,547,805 (GRCm39) D59V probably damaging Het
Rcvrn A T 11: 67,590,802 (GRCm39) I129F probably damaging Het
Reg3b T A 6: 78,348,216 (GRCm39) M10K possibly damaging Het
Rimbp2 T A 5: 128,850,529 (GRCm39) E918V probably damaging Het
Rpl5 A G 5: 108,051,667 (GRCm39) T154A probably benign Het
Sall4 A C 2: 168,598,162 (GRCm39) L195R probably damaging Het
Sh3gl2 T C 4: 85,297,618 (GRCm39) S199P possibly damaging Het
Shank1 G T 7: 43,994,416 (GRCm39) R859L unknown Het
Thsd7b A G 1: 130,117,919 (GRCm39) E1445G possibly damaging Het
Tnfaip6 A G 2: 51,942,339 (GRCm39) E216G probably benign Het
Tram1 T C 1: 13,639,827 (GRCm39) T307A probably benign Het
Trpv5 A G 6: 41,637,277 (GRCm39) V354A probably benign Het
Tyro3 A G 2: 119,643,774 (GRCm39) E745G probably damaging Het
Vmn1r68 A T 7: 10,261,408 (GRCm39) I230N probably damaging Het
Vmn2r28 A T 7: 5,491,357 (GRCm39) W297R probably damaging Het
Vrk3 A T 7: 44,412,460 (GRCm39) probably null Het
Zfhx4 T C 3: 5,465,845 (GRCm39) V2001A probably benign Het
Zfp512b AG AGG 2: 181,230,556 (GRCm39) probably null 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
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
R4079: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'- CAATCTGTAGAGCTGTACTGACTG -3'
(R):5'- CCCATCAGGAGCTTCCAAATTG -3'

Sequencing Primer
(F):5'- GCTGTACTGACTGATATAAAAACCG -3'
(R):5'- AGGGTCACAAGGCTTGCTG -3'
Posted On 2015-04-06