Incidental Mutation 'IGL02651:Asgr1'
ID302155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asgr1
Ensembl Gene ENSMUSG00000020884
Gene Nameasialoglycoprotein receptor 1
SynonymsAsgr-1, Asgr, ASGPR1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02651
Quality Score
Status
Chromosome11
Chromosomal Location70054085-70057894 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70057130 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 80 (Y80H)
Ref Sequence ENSEMBL: ENSMUSP00000137469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018699] [ENSMUST00000092959] [ENSMUST00000108585] [ENSMUST00000123369] [ENSMUST00000146411]
Predicted Effect probably benign
Transcript: ENSMUST00000018699
AA Change: Y180H

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000018699
Gene: ENSMUSG00000020884
AA Change: Y180H

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: Y180H

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000090637
Gene: ENSMUSG00000020884
AA Change: Y180H

DomainStartEndE-ValueType
Pfam:Lectin_N 6 143 1.1e-67 PFAM
CLECT 153 277 2.23e-40 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108585
AA Change: Y151H

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104226
Gene: ENSMUSG00000020884
AA Change: Y151H

DomainStartEndE-ValueType
Blast:GuKc 1 112 1e-24 BLAST
CLECT 124 248 2.23e-40 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000123369
AA Change: Y80H

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137469
Gene: ENSMUSG00000020884
AA Change: Y80H

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: Y180H

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121842
Gene: ENSMUSG00000020884
AA Change: Y180H

DomainStartEndE-ValueType
Pfam:Lectin_N 13 143 4.7e-55 PFAM
CLECT 153 277 2.23e-40 SMART
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,932,506 G233S probably benign Het
Abcc1 T A 16: 14,466,126 C1202S probably benign Het
Acaca C T 11: 84,245,204 probably benign Het
Ap3b1 T A 13: 94,477,021 F676Y probably damaging Het
Arhgef11 C A 3: 87,698,864 Q309K probably damaging Het
Atp13a5 A T 16: 29,334,091 probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp8b2 A C 3: 89,954,589 probably null Het
Btnl2 A G 17: 34,356,222 M1V probably null Het
Cpsf3 T A 12: 21,293,297 M121K probably damaging Het
Creb3l3 A G 10: 81,084,834 I454T probably benign Het
Cyp2d12 A G 15: 82,556,740 E153G probably damaging Het
Dnah5 A G 15: 28,350,622 I2597V probably benign Het
Ercc5 C A 1: 44,156,944 S32R probably damaging Het
Fchsd2 T A 7: 101,277,600 N656K possibly damaging Het
Fga G A 3: 83,028,534 E23K probably benign Het
Fn1 T C 1: 71,597,676 T1925A possibly damaging Het
Fstl5 A T 3: 76,593,534 E423D probably damaging Het
Glg1 C T 8: 111,160,727 M465I possibly damaging Het
H2-M10.4 C A 17: 36,460,656 R210L probably benign Het
Hbb-y T G 7: 103,852,750 K105Q probably benign Het
Hspg2 A T 4: 137,557,445 probably benign Het
Ipo11 T C 13: 106,875,606 Y556C probably damaging Het
Itpr3 A G 17: 27,106,398 M1322V probably damaging Het
Jhy A G 9: 40,917,335 L425P probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Ms4a6c A T 19: 11,478,305 E159D possibly damaging Het
Msh6 A T 17: 87,989,515 L1213F probably damaging Het
Npy1r A C 8: 66,705,023 R328S possibly damaging Het
Olfr1247 A T 2: 89,609,498 N201K possibly damaging Het
Olfr988 A C 2: 85,353,050 L292R probably damaging Het
Pcdhb18 T G 18: 37,491,181 Y521* probably null Het
Pkhd1l1 A T 15: 44,483,814 Y192F probably damaging Het
Rdh12 T A 12: 79,222,052 I301N probably damaging Het
Rptor T C 11: 119,892,612 V1144A possibly damaging Het
Sap25 T C 5: 137,642,370 F171L possibly damaging Het
Senp5 A G 16: 31,990,079 L92P probably benign Het
Sfmbt1 T C 14: 30,815,537 S736P probably damaging Het
Tacr1 T C 6: 82,492,641 S169P probably damaging Het
Tbc1d21 A T 9: 58,363,101 Y130* probably null Het
Tle2 G A 10: 81,586,889 G428D probably damaging Het
Tmem117 T A 15: 95,094,561 N367K probably damaging Het
Tmem210 A G 2: 25,289,089 T130A possibly damaging Het
Ttn T G 2: 76,850,024 probably benign Het
Ttyh1 T C 7: 4,124,679 L122P probably damaging Het
Vmn2r60 T C 7: 42,195,586 F791S probably damaging Het
Vps13d A T 4: 145,164,559 N575K probably benign Het
Vps8 T C 16: 21,517,336 V746A probably damaging Het
Wdfy3 A T 5: 101,896,475 M1888K probably benign Het
Zfp595 T C 13: 67,320,953 D3G probably benign Het
Other mutations in Asgr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1371:Asgr1 UTSW 11 70056097 missense probably benign 0.04
R1471:Asgr1 UTSW 11 70056093 missense possibly damaging 0.82
R1980:Asgr1 UTSW 11 70054946 missense probably damaging 1.00
R2186:Asgr1 UTSW 11 70056249 missense probably benign 0.02
R5757:Asgr1 UTSW 11 70054952 missense probably benign 0.01
R6037:Asgr1 UTSW 11 70056421 missense probably benign 0.00
R6037:Asgr1 UTSW 11 70056421 missense probably benign 0.00
R6478:Asgr1 UTSW 11 70056894 missense possibly damaging 0.94
R6963:Asgr1 UTSW 11 70055968 critical splice donor site probably null
Posted On2015-04-16