Incidental Mutation 'R6478:Asgr1'
ID 516922
Institutional Source Beutler Lab
Gene Symbol Asgr1
Ensembl Gene ENSMUSG00000020884
Gene Name asialoglycoprotein receptor 1
Synonyms Asgr, ASGPR1, Asgr-1
MMRRC Submission 044610-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6478 (G1)
Quality Score 179.009
Status Not validated
Chromosome 11
Chromosomal Location 69944911-69948720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69947720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 130 (V130A)
Ref Sequence ENSEMBL: ENSMUSP00000121842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018699] [ENSMUST00000092959] [ENSMUST00000108585] [ENSMUST00000123369] [ENSMUST00000146411]
AlphaFold P34927
Predicted Effect possibly damaging
Transcript: ENSMUST00000018699
AA Change: V130A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018699
Gene: ENSMUSG00000020884
AA Change: V130A

DomainStartEndE-ValueType
Pfam:Lectin_N 6 143 1.1e-67 PFAM
CLECT 153 277 2.23e-40 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000092959
AA Change: V130A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090637
Gene: ENSMUSG00000020884
AA Change: V130A

DomainStartEndE-ValueType
Pfam:Lectin_N 6 143 1.1e-67 PFAM
CLECT 153 277 2.23e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108585
SMART Domains Protein: ENSMUSP00000104226
Gene: ENSMUSG00000020884

DomainStartEndE-ValueType
Blast:GuKc 1 112 1e-24 BLAST
CLECT 124 248 2.23e-40 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000123369
AA Change: V30A

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137469
Gene: ENSMUSG00000020884
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Lectin_N 1 43 2e-19 PFAM
CLECT 53 129 9.83e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000146411
AA Change: V130A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121842
Gene: ENSMUSG00000020884
AA Change: V130A

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: 97.8%
  • 20x: 93.3%
Validation Efficiency 95% (75/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 119,901,817 (GRCm39) S803C probably benign Het
Abcc9 C T 6: 142,625,034 (GRCm39) A454T probably damaging Het
Abr T C 11: 76,343,158 (GRCm39) E565G probably damaging Het
Adam33 C A 2: 130,893,266 (GRCm39) R753L probably benign Het
Adgre1 A G 17: 57,708,955 (GRCm39) T49A possibly damaging Het
Ankra2 A T 13: 98,404,950 (GRCm39) H153L probably damaging Het
Ankrd26 T G 6: 118,488,599 (GRCm39) E1353D probably benign Het
Ankrd52 T G 10: 128,215,200 (GRCm39) probably null Het
Arhgef10l T A 4: 140,270,068 (GRCm39) T619S possibly damaging Het
Armh4 A G 14: 50,010,789 (GRCm39) V306A possibly damaging Het
Atg10 C A 13: 91,085,466 (GRCm39) C161F probably damaging Het
Atm A T 9: 53,401,554 (GRCm39) N1438K probably damaging Het
BC107364 T A 3: 96,343,322 (GRCm39) probably null Het
Bcar3 G T 3: 122,220,225 (GRCm39) A41S probably benign Het
Btbd6 A G 12: 112,940,932 (GRCm39) probably benign Het
Cchcr1 A G 17: 35,835,600 (GRCm39) T318A possibly damaging Het
Celsr1 A T 15: 85,809,719 (GRCm39) I2221N probably damaging Het
Cept1 C T 3: 106,440,761 (GRCm39) W48* probably null Het
Cfap161 T A 7: 83,442,484 (GRCm39) I85L probably benign Het
Clasp1 A T 1: 118,439,910 (GRCm39) R640* probably null Het
Col5a1 T A 2: 27,842,448 (GRCm39) I441N unknown Het
Col9a1 C A 1: 24,224,486 (GRCm39) L223I unknown Het
Dnah2 T C 11: 69,406,836 (GRCm39) D223G probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dpy19l1 A T 9: 24,361,992 (GRCm39) M129K possibly damaging Het
Ecpas A T 4: 58,810,785 (GRCm39) I1524N probably damaging Het
Fcgbpl1 C G 7: 27,854,798 (GRCm39) P1808R probably damaging Het
Fcrl1 C A 3: 87,296,946 (GRCm39) H318Q probably benign Het
Fer1l5 A G 1: 36,441,612 (GRCm39) N609S probably damaging Het
Fkbp4 C T 6: 128,410,194 (GRCm39) E256K probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Glrx G A 13: 75,995,418 (GRCm39) probably null Het
Gm7356 A T 17: 14,221,726 (GRCm39) M101K probably damaging Het
Gstp2 A T 19: 4,090,499 (GRCm39) I162N probably benign Het
Hectd3 A C 4: 116,856,783 (GRCm39) K443N probably damaging Het
Hmcn1 T A 1: 150,540,535 (GRCm39) R2925W probably damaging Het
Hspa1a G T 17: 35,189,282 (GRCm39) N540K probably damaging Het
Ints6 A T 14: 62,938,235 (GRCm39) M649K probably benign Het
Katnb1 T C 8: 95,822,084 (GRCm39) V270A possibly damaging Het
Kctd3 A G 1: 188,704,561 (GRCm39) S737P probably benign Het
Klra10 T C 6: 130,249,507 (GRCm39) probably null Het
Lmtk3 A G 7: 45,448,013 (GRCm39) D1353G unknown Het
Lrrk1 A G 7: 65,912,481 (GRCm39) V1693A probably damaging Het
Mpnd A T 17: 56,316,575 (GRCm39) I85F probably damaging Het
Myo3b A G 2: 70,179,304 (GRCm39) T1173A probably benign Het
Myof G A 19: 37,892,279 (GRCm39) P1158L probably damaging Het
Naip2 A C 13: 100,298,549 (GRCm39) S496A probably benign Het
Ncor2 A G 5: 125,187,069 (GRCm39) probably benign Het
Npepps C T 11: 97,149,099 (GRCm39) probably null Het
Opn5 T A 17: 42,891,640 (GRCm39) I266F probably benign Het
Or4a74 T G 2: 89,439,790 (GRCm39) I219L probably damaging Het
P2rx4 A G 5: 122,845,763 (GRCm39) D16G probably damaging Het
Padi2 G T 4: 140,644,948 (GRCm39) V61L probably benign Het
Pkd1l1 G A 11: 8,813,911 (GRCm39) T1480I probably benign Het
Plcb1 T C 2: 135,177,371 (GRCm39) S568P probably damaging Het
Rassf10 A G 7: 112,554,914 (GRCm39) E505G probably damaging Het
Rcan2 A G 17: 44,147,225 (GRCm39) E21G probably benign Het
Rhob G T 12: 8,549,585 (GRCm39) C16* probably null Het
Ryr3 T C 2: 112,490,413 (GRCm39) N3807S probably damaging Het
Sass6 T A 3: 116,415,046 (GRCm39) N519K probably benign Het
Slco1a8 A T 6: 141,939,368 (GRCm39) N208K possibly damaging Het
Smad9 A T 3: 54,689,864 (GRCm39) D28V probably damaging Het
Spmip8 A T 8: 96,047,894 (GRCm39) probably null Het
Tex14 G T 11: 87,405,199 (GRCm39) G704C probably benign Het
Tmc3 A G 7: 83,271,524 (GRCm39) N892S probably benign Het
Tnfaip2 T A 12: 111,412,097 (GRCm39) L166Q probably damaging Het
Triml2 A G 8: 43,638,165 (GRCm39) probably null Het
Trio A G 15: 27,856,193 (GRCm39) V666A probably benign Het
Tshz2 G T 2: 169,726,584 (GRCm39) L393F probably damaging Het
Ttn T G 2: 76,672,115 (GRCm39) probably benign Het
Tubb5 A G 17: 36,146,734 (GRCm39) Y159H probably damaging Het
Umodl1 A G 17: 31,178,129 (GRCm39) Y35C probably damaging Het
Utp4 T C 8: 107,631,078 (GRCm39) probably null Het
Vmn1r60 A T 7: 5,547,864 (GRCm39) C79S probably damaging Het
Wnt5b T C 6: 119,410,751 (GRCm39) T230A probably damaging Het
Zfp618 A T 4: 63,050,943 (GRCm39) I575F probably damaging Het
Zmym6 G T 4: 127,017,176 (GRCm39) V894L possibly damaging Het
Zpbp T C 11: 11,412,318 (GRCm39) 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
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
R6037:Asgr1 UTSW 11 69,947,247 (GRCm39) missense probably benign 0.00
R6963:Asgr1 UTSW 11 69,946,794 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATCTCGCAGCCTAGATCAAAG -3'
(R):5'- TGGAGAACCAGTAGCAGCTG -3'

Sequencing Primer
(F):5'- CGCAGCCTAGATCAAAGTTTTGGC -3'
(R):5'- AGTAGCAGCTGCCTTCATAC -3'
Posted On 2018-05-21