Incidental Mutation 'R6037:Asgr1'
ID 486644
Institutional Source Beutler Lab
Gene Symbol Asgr1
Ensembl Gene ENSMUSG00000020884
Gene Name asialoglycoprotein receptor 1
Synonyms Asgr, ASGPR1, Asgr-1
MMRRC Submission 043258-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6037 (G1)
Quality Score 140.008
Status Not validated
Chromosome 11
Chromosomal Location 69944911-69948720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69947247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 96 (S96R)
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: S96R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000018699
Gene: ENSMUSG00000020884
AA Change: S96R

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: S96R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000090637
Gene: ENSMUSG00000020884
AA Change: S96R

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: S96R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104226
Gene: ENSMUSG00000020884
AA Change: S96R

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: S96R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121842
Gene: ENSMUSG00000020884
AA Change: S96R

DomainStartEndE-ValueType
Pfam:Lectin_N 13 143 4.7e-55 PFAM
CLECT 153 277 2.23e-40 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abi2 C A 1: 60,503,738 (GRCm39) P212T probably damaging Het
Ano4 A G 10: 89,153,108 (GRCm39) F68S possibly damaging Het
Art5 C A 7: 101,747,591 (GRCm39) A63S probably benign Het
Bdp1 A T 13: 100,163,957 (GRCm39) V2248D possibly damaging Het
Cacna1s C T 1: 135,998,705 (GRCm39) A200V possibly damaging Het
Cacna2d2 A G 9: 107,390,738 (GRCm39) K357E probably damaging Het
Cdhr18 T C 14: 13,864,282 (GRCm38) N348S probably damaging Het
Cfap52 C T 11: 67,837,126 (GRCm39) G212R probably benign Het
Dcun1d3 A G 7: 119,456,965 (GRCm39) F249S probably damaging Het
Ece2 A G 16: 20,449,112 (GRCm39) Y17C probably damaging Het
Efemp1 C T 11: 28,871,760 (GRCm39) T425I probably damaging Het
Eprs1 A G 1: 185,128,306 (GRCm39) E562G probably damaging Het
Fbn2 T C 18: 58,177,295 (GRCm39) T2001A probably benign Het
Flt4 G A 11: 49,527,867 (GRCm39) R940H probably damaging Het
Fry T A 5: 150,351,644 (GRCm39) M1716K probably benign Het
Gm10684 T A 9: 45,019,039 (GRCm39) probably benign Het
Hivep1 G A 13: 42,311,416 (GRCm39) V1219I probably damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Il23r C T 6: 67,455,938 (GRCm39) V177M probably damaging Het
Klf12 T C 14: 100,137,650 (GRCm39) S299G probably benign Het
Lama5 G A 2: 179,848,806 (GRCm39) R265C probably damaging Het
Lifr A G 15: 7,216,424 (GRCm39) T800A probably damaging Het
Megf8 T C 7: 25,063,831 (GRCm39) L2729P probably damaging Het
Mki67 A C 7: 135,298,532 (GRCm39) S2167R possibly damaging Het
Mus81 T C 19: 5,534,032 (GRCm39) K400E probably damaging Het
Nomo1 T A 7: 45,712,423 (GRCm39) I656N possibly damaging Het
Oas3 T C 5: 120,907,384 (GRCm39) T418A probably benign Het
Olr1 A G 6: 129,470,504 (GRCm39) L221P probably damaging Het
Or14c44 C T 7: 86,062,478 (GRCm39) L303F probably benign Het
Or5m9 T C 2: 85,876,928 (GRCm39) M34T probably benign Het
Or8b3 T A 9: 38,314,601 (GRCm39) C144S probably benign Het
Or8g22 A G 9: 38,958,403 (GRCm39) V104A probably damaging Het
Or8k28 T A 2: 86,286,133 (GRCm39) I161L probably benign Het
Pih1d1 C T 7: 44,805,738 (GRCm39) A69V probably damaging Het
Pkdrej A C 15: 85,703,967 (GRCm39) S656R probably damaging Het
Polr3f A G 2: 144,377,943 (GRCm39) D171G probably damaging Het
Rasal1 T C 5: 120,787,566 (GRCm39) V11A possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Sptbn4 T A 7: 27,063,595 (GRCm39) Y2277F probably damaging Het
St6galnac6 A G 2: 32,502,240 (GRCm39) Q7R probably damaging Het
Thrsp T G 7: 97,066,499 (GRCm39) D71A possibly damaging Het
Vmn2r1 C A 3: 63,989,150 (GRCm39) Q30K probably benign Het
Wipf2 C T 11: 98,787,005 (GRCm39) P345S probably benign Het
Zeb2 G T 2: 44,878,652 (GRCm39) S1170* probably null Het
Zfp947 A G 17: 22,366,415 (GRCm39) Y38H 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
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
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'- AGATCTGCTGGCTCTAAGGC -3'
(R):5'- GAGATTTGGCCCCATGTCAG -3'

Sequencing Primer
(F):5'- GCTCTAAGGCAGAATTTCAGC -3'
(R):5'- GCCCCATGTCAGACCCCTC -3'
Posted On 2017-08-16