Incidental Mutation 'R5757:Asgr1'
ID 445108
Institutional Source Beutler Lab
Gene Symbol Asgr1
Ensembl Gene ENSMUSG00000020884
Gene Name asialoglycoprotein receptor 1
Synonyms Asgr, ASGPR1, Asgr-1
MMRRC Submission 043360-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5757 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69944911-69948720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 69945778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 18 (H18P)
Ref Sequence ENSEMBL: ENSMUSP00000121842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018699] [ENSMUST00000092959] [ENSMUST00000108585] [ENSMUST00000123369] [ENSMUST00000146411]
AlphaFold P34927
Predicted Effect probably benign
Transcript: ENSMUST00000018699
AA Change: H18P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000018699
Gene: ENSMUSG00000020884
AA Change: H18P

DomainStartEndE-ValueType
Pfam:Lectin_N 6 143 1.1e-67 PFAM
CLECT 153 277 2.23e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092959
AA Change: H18P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000090637
Gene: ENSMUSG00000020884
AA Change: H18P

DomainStartEndE-ValueType
Pfam:Lectin_N 6 143 1.1e-67 PFAM
CLECT 153 277 2.23e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108585
AA Change: H18P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000104226
Gene: ENSMUSG00000020884
AA Change: H18P

DomainStartEndE-ValueType
Blast:GuKc 1 112 1e-24 BLAST
CLECT 124 248 2.23e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123369
SMART Domains Protein: ENSMUSP00000137469
Gene: ENSMUSG00000020884

DomainStartEndE-ValueType
Pfam:Lectin_N 1 43 2e-19 PFAM
CLECT 53 129 9.83e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146411
AA Change: H18P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121842
Gene: ENSMUSG00000020884
AA Change: H18P

DomainStartEndE-ValueType
Pfam:Lectin_N 13 143 4.7e-55 PFAM
CLECT 153 277 2.23e-40 SMART
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in impaired hepatic clearance of asialoglycoproteins. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 109,933,794 (GRCm39) A1204T probably benign Het
Adcy5 G T 16: 35,092,451 (GRCm39) R604L probably damaging Het
Ago4 A T 4: 126,419,877 (GRCm39) N33K probably damaging Het
Arid5b T C 10: 67,937,909 (GRCm39) Y406C probably damaging Het
Asph A C 4: 9,637,722 (GRCm39) probably null Het
Brd4 G A 17: 32,420,272 (GRCm39) probably benign Het
Ccdc150 T A 1: 54,302,779 (GRCm39) I133N probably damaging Het
Cdon A C 9: 35,364,068 (GRCm39) H62P probably damaging Het
Clec4b1 T A 6: 123,046,713 (GRCm39) Y157* probably null Het
Clip1 G A 5: 123,765,460 (GRCm39) T810I probably benign Het
Crocc A T 4: 140,770,875 (GRCm39) L184Q probably damaging Het
Fat2 C T 11: 55,143,172 (GRCm39) G4226R probably damaging Het
Fbxo30 T A 10: 11,166,165 (GRCm39) C296S probably benign Het
Fndc3a T C 14: 72,794,025 (GRCm39) K883E probably benign Het
Glyr1 A T 16: 4,836,856 (GRCm39) M436K probably benign Het
Gm525 A T 11: 88,965,872 (GRCm39) Q38L probably benign Het
Gnas T A 2: 174,187,040 (GRCm39) V941D probably damaging Het
Hectd4 G C 5: 121,486,682 (GRCm39) E3226Q possibly damaging Het
Ints13 G A 6: 146,451,604 (GRCm39) R714C probably benign Het
Kif12 A T 4: 63,088,755 (GRCm39) W182R probably damaging Het
Kif21a A G 15: 90,835,548 (GRCm39) L1272P probably damaging Het
Klhl14 A C 18: 21,687,791 (GRCm39) Y544D probably damaging Het
Kntc1 T C 5: 123,945,372 (GRCm39) probably null Het
Lama1 G A 17: 68,045,782 (GRCm39) R229Q possibly damaging Het
Ltbp1 T A 17: 75,580,944 (GRCm39) probably null Het
Map4k5 A T 12: 69,871,429 (GRCm39) C498S probably damaging Het
Myh9 A T 15: 77,655,362 (GRCm39) V1198E probably benign Het
Ncoa6 T C 2: 155,253,528 (GRCm39) D950G probably damaging Het
Obsl1 G T 1: 75,469,699 (GRCm39) A1106D probably damaging Het
Or5m9 T A 2: 85,876,910 (GRCm39) V28E possibly damaging Het
Or8k27 T C 2: 86,275,922 (GRCm39) I135V probably benign Het
Otog T A 7: 45,890,545 (GRCm39) probably null Het
Oxtr A T 6: 112,454,222 (GRCm39) I14N probably damaging Het
Pfkfb3 A T 2: 11,485,141 (GRCm39) S490R probably damaging Het
Polk A C 13: 96,620,760 (GRCm39) M560R probably benign Het
Polq C T 16: 36,907,043 (GRCm39) H2335Y probably benign Het
Prr14 T A 7: 127,074,725 (GRCm39) V419D possibly damaging Het
Rflnb A G 11: 75,912,992 (GRCm39) V132A probably damaging Het
Rxfp1 T G 3: 79,568,627 (GRCm39) I283L possibly damaging Het
Ryr3 G A 2: 112,672,320 (GRCm39) R1384C probably damaging Het
Scnn1g T A 7: 121,337,438 (GRCm39) C100S probably damaging Het
Sfrp2 G C 3: 83,673,933 (GRCm39) G29R possibly damaging Het
Spop A G 11: 95,381,208 (GRCm39) H312R probably damaging Het
Tpx2 A G 2: 152,727,151 (GRCm39) probably null Het
Wdr4 A T 17: 31,718,063 (GRCm39) V337E probably damaging Het
Zbtb11 A G 16: 55,827,392 (GRCm39) N953D probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Asgr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02651:Asgr1 APN 11 69,947,956 (GRCm39) missense possibly damaging 0.65
R1371:Asgr1 UTSW 11 69,946,923 (GRCm39) missense probably benign 0.04
R1471:Asgr1 UTSW 11 69,946,919 (GRCm39) missense possibly damaging 0.82
R1980:Asgr1 UTSW 11 69,945,772 (GRCm39) missense probably damaging 1.00
R2186:Asgr1 UTSW 11 69,947,075 (GRCm39) missense probably benign 0.02
R6037:Asgr1 UTSW 11 69,947,247 (GRCm39) missense probably benign 0.00
R6037:Asgr1 UTSW 11 69,947,247 (GRCm39) missense probably benign 0.00
R6478:Asgr1 UTSW 11 69,947,720 (GRCm39) missense possibly damaging 0.94
R6963:Asgr1 UTSW 11 69,946,794 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGAGACAGAAAGTATGTCCACC -3'
(R):5'- TGGGAGGAAGCTTGGACATC -3'

Sequencing Primer
(F):5'- TGTCCACCTAGTCAGATGTAAAAGG -3'
(R):5'- ACATCTGTCACTGAGGATGC -3'
Posted On 2016-11-21