Incidental Mutation 'R0029:Lrpap1'
ID 44561
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 038323-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0029 (G1)
Quality Score 212
Status Validated
Chromosome 5
Chromosomal Location 35248834-35263043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35255021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 205 (N205S)
Ref Sequence ENSEMBL: ENSMUSP00000030986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030986]
AlphaFold P55302
Predicted Effect possibly damaging
Transcript: ENSMUST00000030986
AA Change: N205S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030986
Gene: ENSMUSG00000029103
AA Change: N205S

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 0.7057 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 94% (48/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,945,225 (GRCm39) F434L probably benign Het
Abt1 A T 13: 23,606,678 (GRCm39) F141Y possibly damaging Het
Anapc15-ps A G 10: 95,508,857 (GRCm39) I141T probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Axin2 A G 11: 108,814,873 (GRCm39) T254A probably benign Het
Ccn4 C T 15: 66,784,713 (GRCm39) R129C probably damaging Het
Ciz1 A G 2: 32,261,431 (GRCm39) probably benign Het
Cpa4 A G 6: 30,585,044 (GRCm39) Y276C probably damaging Het
Cpt1a A G 19: 3,431,674 (GRCm39) D698G probably benign Het
Crebbp T C 16: 3,935,307 (GRCm39) T861A probably damaging Het
Dpy19l2 T A 9: 24,469,397 (GRCm39) D753V probably damaging Het
Exosc7 A T 9: 122,948,302 (GRCm39) probably benign Het
Fbxw28 T A 9: 109,157,357 (GRCm39) D244V probably damaging Het
Fgd5 A G 6: 92,044,539 (GRCm39) D1260G probably benign Het
Gapvd1 T A 2: 34,568,153 (GRCm39) I1404F probably damaging Het
Gas7 A G 11: 67,534,163 (GRCm39) S88G probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Il23r A C 6: 67,455,929 (GRCm39) probably null Het
Impg1 T C 9: 80,305,653 (GRCm39) D138G probably damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Kirrel2 A G 7: 30,152,590 (GRCm39) probably benign Het
Lipm T C 19: 34,093,948 (GRCm39) probably benign Het
Mboat4 T G 8: 34,587,363 (GRCm39) F87V probably damaging Het
Nadsyn1 G C 7: 143,359,815 (GRCm39) Q386E probably benign Het
Nell1 G A 7: 49,770,463 (GRCm39) probably benign Het
Or5ac25 T C 16: 59,181,904 (GRCm39) R226G probably benign Het
Or8g35 T A 9: 39,381,956 (GRCm39) E22V probably benign Het
Pard3 G T 8: 128,153,239 (GRCm39) probably benign Het
Per2 C A 1: 91,351,434 (GRCm39) R1024L possibly damaging Het
Phf11c T C 14: 59,622,364 (GRCm39) D216G probably benign Het
Polk G A 13: 96,653,178 (GRCm39) T74I probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Psmb7 T A 2: 38,523,919 (GRCm39) H152L probably damaging Het
Ralgps1 A T 2: 33,031,031 (GRCm39) D498E probably benign Het
Slc26a2 G A 18: 61,335,382 (GRCm39) P24S possibly damaging Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Spmip11 T C 15: 98,483,190 (GRCm39) probably null Het
Stk38 T C 17: 29,201,112 (GRCm39) E188G probably benign Het
Sulf2 T C 2: 165,958,893 (GRCm39) N105S possibly damaging Het
Sult2a3 T A 7: 13,806,999 (GRCm39) M228L probably benign Het
Svil C A 18: 5,063,286 (GRCm39) D852E probably benign Het
Tcaf2 A T 6: 42,607,093 (GRCm39) L287* probably null Het
Tmem132e A T 11: 82,335,587 (GRCm39) I890F probably damaging Het
Tmem63a A G 1: 180,790,031 (GRCm39) Y401C probably benign Het
Ttn T C 2: 76,596,850 (GRCm39) E20021G probably damaging Het
Ubac1 G T 2: 25,911,455 (GRCm39) T31N probably benign Het
Usp29 T C 7: 6,964,580 (GRCm39) L141P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Vmn1r204 A G 13: 22,740,588 (GRCm39) Y73C probably benign Het
Vmn2r2 T C 3: 64,024,365 (GRCm39) I739V probably benign 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
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
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'- CAGGCCACTGACAACTGAGTATGAC -3'
(R):5'- AAGCCAGCCACCGTGAGTTCTAAG -3'

Sequencing Primer
(F):5'- AAGTATCCTAGATACTCCTGGGC -3'
(R):5'- CCACCGTGAGTTCTAAGTAGTG -3'
Posted On 2013-06-11