Incidental Mutation 'R2186:Asgr1'
ID 237781
Institutional Source Beutler Lab
Gene Symbol Asgr1
Ensembl Gene ENSMUSG00000020884
Gene Name asialoglycoprotein receptor 1
Synonyms Asgr, ASGPR1, Asgr-1
MMRRC Submission 040188-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2186 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69944911-69948720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69947075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 66 (R66Q)
Ref Sequence ENSEMBL: ENSMUSP00000104226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018699] [ENSMUST00000092959] [ENSMUST00000108585] [ENSMUST00000123369] [ENSMUST00000146411]
AlphaFold P34927
Predicted Effect probably benign
Transcript: ENSMUST00000018699
AA Change: R66Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000018699
Gene: ENSMUSG00000020884
AA Change: R66Q

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: R66Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000090637
Gene: ENSMUSG00000020884
AA Change: R66Q

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: R66Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000104226
Gene: ENSMUSG00000020884
AA Change: R66Q

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: R66Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121842
Gene: ENSMUSG00000020884
AA Change: R66Q

DomainStartEndE-ValueType
Pfam:Lectin_N 13 143 4.7e-55 PFAM
CLECT 153 277 2.23e-40 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,340 (GRCm39) N29S probably damaging Het
Ap1b1 T C 11: 4,965,737 (GRCm39) V92A possibly damaging Het
Atp8b4 T A 2: 126,200,780 (GRCm39) Q796L probably damaging Het
Camk4 A C 18: 33,315,394 (GRCm39) D307A probably damaging Het
Catsperb T A 12: 101,447,041 (GRCm39) I223K probably benign Het
Ccdc80 A G 16: 44,938,468 (GRCm39) Y725C probably damaging Het
Cep164 T A 9: 45,679,876 (GRCm39) Q1119L probably damaging Het
Cep85l G A 10: 53,224,714 (GRCm39) P292S probably damaging Het
Cfap53 A G 18: 74,462,576 (GRCm39) probably null Het
Cilk1 C T 9: 78,038,769 (GRCm39) T6M probably benign Het
Cts8 C A 13: 61,399,545 (GRCm39) C138F probably damaging Het
Dis3l C A 9: 64,246,894 (GRCm39) E54* probably null Het
Dnaja1 T A 4: 40,732,853 (GRCm39) D367E probably benign Het
Duoxa2 T C 2: 122,129,655 (GRCm39) I45T probably damaging Het
EU599041 C T 7: 42,875,333 (GRCm39) noncoding transcript Het
Exoc5 T C 14: 49,252,936 (GRCm39) M561V probably benign Het
Fam184a T C 10: 53,514,290 (GRCm39) I296V probably damaging Het
Fbxl18 C T 5: 142,864,516 (GRCm39) V686M probably damaging Het
Fryl A G 5: 73,222,318 (GRCm39) S2088P probably damaging Het
Fus G A 7: 127,584,706 (GRCm39) probably benign Het
Gpr183 T A 14: 122,191,727 (GRCm39) I265L probably benign Het
Herc1 T G 9: 66,347,183 (GRCm39) L2013V probably benign Het
Iqca1 T C 1: 90,009,066 (GRCm39) K430R probably benign Het
Iqca1l C T 5: 24,759,524 (GRCm39) G82E probably damaging Het
Itpripl2 A G 7: 118,090,500 (GRCm39) C20R probably damaging Het
Kmt2c C A 5: 25,492,110 (GRCm39) C852F probably damaging Het
Lamb1 A T 12: 31,368,466 (GRCm39) K1199* probably null Het
Lrba A G 3: 86,211,643 (GRCm39) Y421C probably damaging Het
Lrig2 A G 3: 104,375,914 (GRCm39) L96P probably benign Het
Mcc A G 18: 44,945,145 (GRCm39) F29S possibly damaging Het
Mlh1 T C 9: 111,087,634 (GRCm39) probably benign Het
Pals1 T C 12: 78,866,145 (GRCm39) probably benign Het
Rbm33 A G 5: 28,599,228 (GRCm39) T867A unknown Het
Sdk1 T A 5: 142,032,047 (GRCm39) S1041T probably benign Het
Serpinb2 A G 1: 107,451,694 (GRCm39) probably null Het
Serpinb9d A G 13: 33,387,030 (GRCm39) N366S possibly damaging Het
Sf3b1 A G 1: 55,046,792 (GRCm39) S251P probably benign Het
Slc45a1 T C 4: 150,722,708 (GRCm39) Y392C probably benign Het
Tlr4 T A 4: 66,758,220 (GRCm39) C338S possibly damaging Het
Trio A G 15: 27,824,061 (GRCm39) probably null Het
Vnn1 A T 10: 23,773,299 (GRCm39) I109L probably benign Het
Wnk1 A G 6: 119,925,528 (GRCm39) V1312A probably benign Het
Zbed6 A G 1: 133,585,817 (GRCm39) S507P probably damaging Het
Zfp28 A G 7: 6,397,497 (GRCm39) H644R probably damaging Het
Zfp286 A G 11: 62,671,287 (GRCm39) V262A probably damaging Het
Zfp292 A T 4: 34,807,962 (GRCm39) M1694K probably benign 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
R5757:Asgr1 UTSW 11 69,945,778 (GRCm39) missense probably benign 0.01
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'- TGATACGCTCTCTTGCAGGG -3'
(R):5'- TCCCACACTACTTCCTAGAGG -3'

Sequencing Primer
(F):5'- AGCGACTCTGCTCTGGATC -3'
(R):5'- ACACTACTTCCTAGAGGATAAACTTG -3'
Posted On 2014-10-02