Incidental Mutation 'IGL02303:Ldlrap1'
ID 287470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldlrap1
Ensembl Gene ENSMUSG00000037295
Gene Name low density lipoprotein receptor adaptor protein 1
Synonyms Arh, Arh1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02303
Quality Score
Status
Chromosome 4
Chromosomal Location 134468865-134495335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134484706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 96 (I96N)
Ref Sequence ENSEMBL: ENSMUSP00000036749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037828]
AlphaFold Q8C142
Predicted Effect probably damaging
Transcript: ENSMUST00000037828
AA Change: I96N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036749
Gene: ENSMUSG00000037295
AA Change: I96N

DomainStartEndE-ValueType
PTB 42 177 4.92e-40 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,045,376 (GRCm39) F319S probably damaging Het
Ap3b1 A G 13: 94,664,827 (GRCm39) D922G unknown Het
Bhlhe41 A T 6: 145,809,882 (GRCm39) H107Q probably damaging Het
Csmd2 C A 4: 128,262,801 (GRCm39) H662Q probably benign Het
Dnah8 T C 17: 30,932,021 (GRCm39) V1463A probably benign Het
Ebf3 A T 7: 136,911,094 (GRCm39) V140E probably benign Het
Havcr2 T A 11: 46,370,108 (GRCm39) probably benign Het
Hexb G A 13: 97,313,401 (GRCm39) A485V probably damaging Het
Igkv5-37 T A 6: 69,940,473 (GRCm39) Q57L probably damaging Het
Ipo5 T A 14: 121,154,795 (GRCm39) S40T probably benign Het
Kcnj8 A G 6: 142,515,837 (GRCm39) M90T probably benign Het
Kif21b T A 1: 136,087,495 (GRCm39) L937Q probably damaging Het
Kmt2c A C 5: 25,515,155 (GRCm39) L2896R probably damaging Het
Leo1 A G 9: 75,353,281 (GRCm39) probably benign Het
Mbnl2 T C 14: 120,642,059 (GRCm39) M341T probably benign Het
Nfatc2 G A 2: 168,348,821 (GRCm39) R669* probably null Het
Nhlrc2 T A 19: 56,563,280 (GRCm39) V293E probably damaging Het
Or1e17 T C 11: 73,831,276 (GRCm39) F68S possibly damaging Het
Or2at1 A G 7: 99,417,179 (GRCm39) D270G possibly damaging Het
Or51ag1 A T 7: 103,155,295 (GRCm39) M286K probably benign Het
Or51ai2 A G 7: 103,586,770 (GRCm39) Q61R possibly damaging Het
Otoa T A 7: 120,732,147 (GRCm39) probably null Het
Pcnt T C 10: 76,278,393 (GRCm39) probably benign Het
Recql4 G T 15: 76,592,771 (GRCm39) Q307K possibly damaging Het
Sp140 T A 1: 85,570,730 (GRCm39) Y453* probably null Het
Sspo G A 6: 48,461,639 (GRCm39) V3600I possibly damaging Het
Sybu T C 15: 44,536,619 (GRCm39) E441G probably benign Het
Syne3 A T 12: 104,929,553 (GRCm39) H222Q probably damaging Het
Tef T C 15: 81,705,496 (GRCm39) V173A probably benign Het
Tlcd1 A G 11: 78,071,160 (GRCm39) probably null Het
Tmod4 C A 3: 95,032,953 (GRCm39) Q30K probably benign Het
Tpgs1 T C 10: 79,511,322 (GRCm39) Y155H probably damaging Het
Trib3 G A 2: 152,185,070 (GRCm39) P60S probably benign Het
Ttn T A 2: 76,560,550 (GRCm39) T20957S probably damaging Het
Vars1 T C 17: 35,234,460 (GRCm39) probably benign Het
Vps13c T C 9: 67,852,763 (GRCm39) probably benign Het
Zc3h4 T C 7: 16,168,002 (GRCm39) S704P unknown Het
Zfp644 G A 5: 106,785,180 (GRCm39) R456W probably damaging Het
Other mutations in Ldlrap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01076:Ldlrap1 APN 4 134,477,293 (GRCm39) missense probably benign 0.03
R0129:Ldlrap1 UTSW 4 134,484,733 (GRCm39) missense probably damaging 1.00
R3841:Ldlrap1 UTSW 4 134,477,747 (GRCm39) missense probably damaging 0.97
R4233:Ldlrap1 UTSW 4 134,484,649 (GRCm39) splice site probably null
R4884:Ldlrap1 UTSW 4 134,486,282 (GRCm39) missense probably benign
R5871:Ldlrap1 UTSW 4 134,486,240 (GRCm39) missense probably damaging 1.00
R6221:Ldlrap1 UTSW 4 134,484,671 (GRCm39) missense probably damaging 0.96
R6222:Ldlrap1 UTSW 4 134,484,671 (GRCm39) missense probably damaging 0.96
R6232:Ldlrap1 UTSW 4 134,486,345 (GRCm39) missense possibly damaging 0.82
R6939:Ldlrap1 UTSW 4 134,495,285 (GRCm39) start gained probably benign
R7472:Ldlrap1 UTSW 4 134,486,307 (GRCm39) missense possibly damaging 0.61
R8407:Ldlrap1 UTSW 4 134,484,736 (GRCm39) missense probably damaging 1.00
R8737:Ldlrap1 UTSW 4 134,495,147 (GRCm39) missense probably benign 0.05
R9450:Ldlrap1 UTSW 4 134,474,490 (GRCm39) missense probably damaging 1.00
R9764:Ldlrap1 UTSW 4 134,476,661 (GRCm39) missense probably benign 0.00
R9800:Ldlrap1 UTSW 4 134,477,303 (GRCm39) missense probably benign
Posted On 2015-04-16