Incidental Mutation 'R4233:Ldlrap1'
ID 320953
Institutional Source Beutler Lab
Gene Symbol Ldlrap1
Ensembl Gene ENSMUSG00000037295
Gene Name low density lipoprotein receptor adaptor protein 1
Synonyms Arh, Arh1
MMRRC Submission 041642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4233 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 134468865-134495335 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 134484649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037828]
AlphaFold Q8C142
Predicted Effect probably null
Transcript: ENSMUST00000037828
SMART Domains Protein: ENSMUSP00000036749
Gene: ENSMUSG00000037295

DomainStartEndE-ValueType
PTB 42 177 4.92e-40 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (53/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,454 (GRCm39) Y96N probably damaging Het
Abca15 C T 7: 120,002,202 (GRCm39) Q1572* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aph1c A G 9: 66,740,603 (GRCm39) F41S probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Arhgef40 T C 14: 52,227,628 (GRCm39) V458A possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Ccar2 T C 14: 70,388,540 (GRCm39) T169A possibly damaging Het
Cfap58 G A 19: 47,963,994 (GRCm39) V541M possibly damaging Het
Coro2b T C 9: 62,333,467 (GRCm39) E376G possibly damaging Het
Dnah11 T C 12: 117,880,526 (GRCm39) T3865A probably damaging Het
Dync2h1 T C 9: 7,134,360 (GRCm39) E1549G probably benign Het
Ercc6l2 T C 13: 64,019,982 (GRCm39) probably benign Het
Fbxo32 G T 15: 58,055,729 (GRCm39) T135K possibly damaging Het
Fhip2b A C 14: 70,824,318 (GRCm39) V473G probably damaging Het
Fras1 A T 5: 96,862,235 (GRCm39) I2205F possibly damaging Het
Gm12034 A G 11: 20,396,785 (GRCm39) noncoding transcript Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Gm5108 C A 5: 68,132,496 (GRCm39) T55K unknown Het
Gpa33 A T 1: 165,974,340 (GRCm39) D59V probably damaging Het
Gpn2 T A 4: 133,312,016 (GRCm39) Y83N probably damaging Het
Gzf1 C T 2: 148,528,453 (GRCm39) P460S possibly damaging Het
Ifi203 A T 1: 173,764,099 (GRCm39) S124R possibly damaging Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Madd T C 2: 91,008,581 (GRCm39) E107G probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or52n4 A G 7: 104,294,195 (GRCm39) V126A probably benign Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A T 1: 97,792,119 (GRCm39) V434D possibly damaging Het
Plxnd1 T C 6: 115,942,914 (GRCm39) N1257D probably benign Het
Prkdc C T 16: 15,653,783 (GRCm39) A3870V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 T C 13: 11,765,611 (GRCm39) D1375G probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc13a2 A G 11: 78,294,361 (GRCm39) probably benign Het
Slc7a13 T C 4: 19,819,070 (GRCm39) F90S probably damaging Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Stard13 A G 5: 150,986,164 (GRCm39) S331P probably benign Het
Sult2a8 T A 7: 14,147,608 (GRCm39) I228L probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tshz1 C A 18: 84,034,320 (GRCm39) E29D probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null Het
Other mutations in Ldlrap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01076:Ldlrap1 APN 4 134,477,293 (GRCm39) missense probably benign 0.03
IGL02303:Ldlrap1 APN 4 134,484,706 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATCAGCTGGTTAGGGAACAGC -3'
(R):5'- CAAGGTGCCAGTTGAGTGTC -3'

Sequencing Primer
(F):5'- GGGTTTCTCAGTGGCACAACATAAC -3'
(R):5'- GCCAGTTGAGTGTCCTCCTG -3'
Posted On 2015-06-12