Incidental Mutation 'R6939:Ldlrap1'
ID 540415
Institutional Source Beutler Lab
Gene Symbol Ldlrap1
Ensembl Gene ENSMUSG00000037295
Gene Name low density lipoprotein receptor adaptor protein 1
Synonyms Arh, Arh1
MMRRC Submission 045053-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6939 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 134468865-134495335 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to A at 134495285 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 benign
Transcript: ENSMUST00000037828
SMART Domains Protein: ENSMUSP00000036749
Gene: ENSMUSG00000037295

DomainStartEndE-ValueType
PTB 42 177 4.92e-40 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G A 15: 60,792,244 (GRCm39) P128L probably damaging Het
Acsm3 T C 7: 119,377,678 (GRCm39) V401A probably damaging Het
Arhgef11 C A 3: 87,594,227 (GRCm39) N93K probably damaging Het
C1ra G A 6: 124,489,760 (GRCm39) probably null Het
Camk2a A G 18: 61,091,226 (GRCm39) E236G probably damaging Het
Cav2 C A 6: 17,281,410 (GRCm39) D17E possibly damaging Het
Ccdc149 T C 5: 52,533,607 (GRCm39) S520G probably benign Het
Chd4 C A 6: 125,083,501 (GRCm39) H674Q probably damaging Het
Clrn2 A T 5: 45,611,096 (GRCm39) probably benign Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cyp2c67 T C 19: 39,631,778 (GRCm39) T140A possibly damaging Het
D7Ertd443e T C 7: 133,966,208 (GRCm39) probably null Het
Dcdc2c G T 12: 28,591,496 (GRCm39) Q131K probably benign Het
Dmpk T A 7: 18,822,149 (GRCm39) V369E probably damaging Het
Dnah11 A T 12: 118,070,297 (GRCm39) W1503R probably damaging Het
Dnai7 A G 6: 145,120,945 (GRCm39) F625L possibly damaging Het
Dok2 T C 14: 71,013,045 (GRCm39) V71A probably benign Het
Dqx1 A T 6: 83,036,446 (GRCm39) Q150L probably damaging Het
Extl3 A G 14: 65,304,189 (GRCm39) I740T possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat2 C T 11: 55,143,300 (GRCm39) W4183* probably null Het
Fkrp C T 7: 16,545,751 (GRCm39) R37Q probably benign Het
Frem3 A G 8: 81,341,774 (GRCm39) K1356E probably benign Het
Fus A T 7: 127,571,741 (GRCm39) probably benign Het
Gabarapl2 C A 8: 112,669,201 (GRCm39) S53* probably null Het
Gjd3 A C 11: 102,691,733 (GRCm39) M90R probably damaging Het
Gm30083 C T 14: 33,725,557 (GRCm39) probably null Het
Gm7356 T A 17: 14,221,387 (GRCm39) Y214F probably benign Het
Hexd A T 11: 121,113,164 (GRCm39) D533V probably benign Het
Ift172 G A 5: 31,414,930 (GRCm39) A1364V probably damaging Het
Ighmbp2 A T 19: 3,326,907 (GRCm39) F186Y probably damaging Het
Inpp5e C A 2: 26,297,774 (GRCm39) probably null Het
Iqcb1 A G 16: 36,660,274 (GRCm39) T146A possibly damaging Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm6b A G 11: 69,297,588 (GRCm39) W284R probably damaging Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Ksr2 T A 5: 117,903,626 (GRCm39) *952R probably null Het
Mpdu1 G A 11: 69,548,881 (GRCm39) probably benign Het
Mrgprh A T 17: 13,095,822 (GRCm39) T21S probably benign Het
Muc16 T A 9: 18,549,833 (GRCm39) T5487S probably benign Het
Mydgf A G 17: 56,490,737 (GRCm39) probably null Het
Napa T C 7: 15,849,182 (GRCm39) C241R possibly damaging Het
Or10ab4 C A 7: 107,654,312 (GRCm39) A41E possibly damaging Het
Or10n7-ps1 T C 9: 39,598,187 (GRCm39) T18A possibly damaging Het
Or5k17 A T 16: 58,746,648 (GRCm39) Y95* probably null Het
Pla2g4f A T 2: 120,137,782 (GRCm39) L326Q probably damaging Het
Pramel16 T C 4: 143,675,366 (GRCm39) T487A probably benign Het
Psme4 T A 11: 30,787,291 (GRCm39) Y1029N probably damaging Het
Ptprj T C 2: 90,289,858 (GRCm39) T707A possibly damaging Het
Raet1e T A 10: 22,050,256 (GRCm39) M13K possibly damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Rmi1 A G 13: 58,557,169 (GRCm39) I473V probably benign Het
Rps6ka4 A G 19: 6,815,437 (GRCm39) F186L probably damaging Het
Ryr1 T A 7: 28,751,751 (GRCm39) M3672L possibly damaging Het
Smarca5 A T 8: 81,431,949 (GRCm39) C890S possibly damaging Het
Spata31d1e T A 13: 59,889,872 (GRCm39) K231N possibly damaging Het
Tdrd12 C T 7: 35,185,024 (GRCm39) probably null Het
Tecta T C 9: 42,259,293 (GRCm39) N1530S probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmem94 A G 11: 115,676,656 (GRCm39) S54G possibly damaging Het
Tnk2 T C 16: 32,482,696 (GRCm39) V41A probably damaging Het
Trpm1 A G 7: 63,918,045 (GRCm39) T462A probably benign Het
Tsg101 T C 7: 46,556,847 (GRCm39) T61A probably benign Het
Usp42 T C 5: 143,713,724 (GRCm39) N17D probably damaging Het
Zfp607a T A 7: 27,578,473 (GRCm39) C514* probably null Het
Zfp866 G T 8: 70,218,871 (GRCm39) Q250K probably damaging 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
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
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'- AGTTAAGCCTGATCCCTGTCG -3'
(R):5'- TCTGAGTTTAGGAACACCGC -3'

Sequencing Primer
(F):5'- AGACGTGCAGCCGGACATG -3'
(R):5'- AAGGGCGGGGTTGCGCTCTAGG -3'
Posted On 2018-11-06