Incidental Mutation 'R6981:Asgr2'
ID 542690
Institutional Source Beutler Lab
Gene Symbol Asgr2
Ensembl Gene ENSMUSG00000040963
Gene Name asialoglycoprotein receptor 2
Synonyms Asgr-2, ASGPR2, Asgr
MMRRC Submission 045089-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R6981 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69983470-69997013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69987636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 45 (L45F)
Ref Sequence ENSEMBL: ENSMUSP00000121189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102572] [ENSMUST00000124721] [ENSMUST00000143772]
AlphaFold P24721
Predicted Effect probably damaging
Transcript: ENSMUST00000102572
AA Change: L45F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099632
Gene: ENSMUSG00000040963
AA Change: L45F

DomainStartEndE-ValueType
Pfam:Lectin_N 29 162 1.5e-58 PFAM
CLECT 170 294 3.51e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124721
AA Change: L45F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121189
Gene: ENSMUSG00000040963
AA Change: L45F

DomainStartEndE-ValueType
Pfam:Lectin_N 25 162 1e-69 PFAM
CLECT 170 226 1.12e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143772
SMART Domains Protein: ENSMUSP00000136505
Gene: ENSMUSG00000040963

DomainStartEndE-ValueType
Pfam:Lectin_N 1 59 7.5e-27 PFAM
CLECT 67 191 3.51e-38 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: 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 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 less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene results in reduced ASGR1 protein expression and deficiency in clearance of asialoorsomucoid. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,184,544 (GRCm39) probably benign Het
5031439G07Rik A C 15: 84,833,798 (GRCm39) Y419* probably null Het
Abca2 T A 2: 25,334,151 (GRCm39) F1809L probably damaging Het
Ache C T 5: 137,289,940 (GRCm39) T423I probably benign Het
Acvrl1 A G 15: 101,036,226 (GRCm39) T395A probably damaging Het
Ap3b2 A G 7: 81,127,741 (GRCm39) I145T probably damaging Het
Arhgef4 A C 1: 34,761,533 (GRCm39) Q263P unknown Het
Baiap2l1 T A 5: 144,222,389 (GRCm39) Y122F possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Car8 A T 4: 8,185,650 (GRCm39) probably null Het
Carns1 T C 19: 4,220,081 (GRCm39) T385A probably benign Het
Ccdc47 T C 11: 106,093,563 (GRCm39) T41A probably benign Het
Ccne1 A T 7: 37,797,998 (GRCm39) probably benign Het
Cdh4 C T 2: 179,439,297 (GRCm39) T148I probably benign Het
Cep85 C T 4: 133,879,572 (GRCm39) R392Q probably damaging Het
Ces1h T C 8: 94,080,123 (GRCm39) T464A unknown Het
Cfl1 T A 19: 5,542,644 (GRCm39) S41R possibly damaging Het
Crnn T C 3: 93,055,442 (GRCm39) V76A probably damaging Het
Cspg4 A G 9: 56,794,385 (GRCm39) T707A probably benign Het
Dgkh A T 14: 78,865,182 (GRCm39) C53* probably null Het
Dhx34 G T 7: 15,949,255 (GRCm39) A391E possibly damaging Het
Dlx1 C A 2: 71,362,697 (GRCm39) N201K probably benign Het
Dnah6 T C 6: 72,998,161 (GRCm39) E4087G probably benign Het
Dock6 T C 9: 21,756,846 (GRCm39) Y134C probably damaging Het
Duox2 A G 2: 122,121,708 (GRCm39) V662A possibly damaging Het
Dusp12 A G 1: 170,708,530 (GRCm39) F12L probably damaging Het
Eppk1 T C 15: 75,995,237 (GRCm39) E548G probably benign Het
Foxj2 A G 6: 122,819,798 (GRCm39) D562G probably benign Het
Foxj2 A G 6: 122,805,403 (GRCm39) I92V probably damaging Het
Gm17728 A G 17: 9,640,991 (GRCm39) R34G probably damaging Het
Gpc6 T C 14: 117,861,960 (GRCm39) I292T probably damaging Het
Gpr15 T A 16: 58,538,548 (GRCm39) K180N probably benign Het
Gtf2ird1 G T 5: 134,412,776 (GRCm39) probably benign Het
H2ac12 A G 13: 22,219,719 (GRCm39) S2P probably benign Het
Hps3 T A 3: 20,076,984 (GRCm39) T393S probably damaging Het
Hspa1a A T 17: 35,189,267 (GRCm39) probably null Het
Hydin A G 8: 111,257,704 (GRCm39) E2378G possibly damaging Het
Ighv1-18 A G 12: 114,646,298 (GRCm39) L102P probably damaging Het
Itga5 T A 15: 103,258,653 (GRCm39) N814I probably benign Het
Kcnb2 T C 1: 15,780,480 (GRCm39) S451P probably damaging Het
Klhl32 T G 4: 24,709,030 (GRCm39) I112L probably damaging Het
Knstrn T G 2: 118,664,575 (GRCm39) I47R possibly damaging Het
Med23 T A 10: 24,771,722 (GRCm39) S581T possibly damaging Het
Mgat5 C T 1: 127,318,588 (GRCm39) T361I probably damaging Het
Nipal3 A G 4: 135,206,858 (GRCm39) V112A probably damaging Het
Or10a5 T A 7: 106,635,956 (GRCm39) V198D possibly damaging Het
Or2b2 A G 13: 21,887,243 (GRCm39) E24G probably benign Het
Or4k41 T C 2: 111,279,697 (GRCm39) F71L probably benign Het
Or5g27 A G 2: 85,409,825 (GRCm39) M81V probably benign Het
Paxip1 G A 5: 27,970,766 (GRCm39) Q528* probably null Het
Proser2 T C 2: 6,118,801 (GRCm39) D14G probably damaging Het
Rp1 T G 1: 4,415,878 (GRCm39) I1745L probably benign Het
Rxfp2 G T 5: 149,972,313 (GRCm39) probably null Het
Slc45a1 T C 4: 150,723,051 (GRCm39) S278G possibly damaging Het
Smurf1 A G 5: 144,823,179 (GRCm39) I455T possibly damaging Het
Speg T C 1: 75,407,557 (GRCm39) L3188P probably damaging Het
Tcaf3 G T 6: 42,574,059 (GRCm39) A51D probably damaging Het
Tecrl T C 5: 83,502,768 (GRCm39) N12S possibly damaging Het
Tmem17 T A 11: 22,468,508 (GRCm39) I149N possibly damaging Het
Tmem171 A G 13: 98,828,976 (GRCm39) V58A possibly damaging Het
Ttn A G 2: 76,691,521 (GRCm39) probably benign Het
Ubqln5 A G 7: 103,777,808 (GRCm39) S339P probably benign Het
Vmn1r16 T A 6: 57,300,473 (GRCm39) I50L probably benign Het
Vmn2r103 A T 17: 20,013,739 (GRCm39) Y177F probably benign Het
Zfp28 C A 7: 6,397,692 (GRCm39) T709K probably damaging Het
Zfp958 A G 8: 4,676,170 (GRCm39) N46S probably benign Het
Zyx T A 6: 42,327,291 (GRCm39) V30E unknown Het
Other mutations in Asgr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01586:Asgr2 APN 11 69,996,193 (GRCm39) splice site probably benign
IGL01936:Asgr2 APN 11 69,988,877 (GRCm39) critical splice acceptor site probably null
IGL02827:Asgr2 APN 11 69,987,723 (GRCm39) missense probably benign 0.05
IGL03034:Asgr2 APN 11 69,989,089 (GRCm39) missense probably damaging 0.99
R0569:Asgr2 UTSW 11 69,988,703 (GRCm39) missense probably benign 0.04
R1240:Asgr2 UTSW 11 69,987,676 (GRCm39) missense possibly damaging 0.81
R1748:Asgr2 UTSW 11 69,987,658 (GRCm39) missense probably damaging 0.99
R1920:Asgr2 UTSW 11 69,989,123 (GRCm39) missense possibly damaging 0.93
R3016:Asgr2 UTSW 11 69,996,235 (GRCm39) missense probably damaging 0.97
R4293:Asgr2 UTSW 11 69,989,057 (GRCm39) missense probably benign 0.43
R4423:Asgr2 UTSW 11 69,996,211 (GRCm39) missense probably benign 0.44
R4988:Asgr2 UTSW 11 69,988,665 (GRCm39) missense probably benign 0.05
R6224:Asgr2 UTSW 11 69,989,072 (GRCm39) missense probably damaging 0.98
R7715:Asgr2 UTSW 11 69,987,721 (GRCm39) missense probably benign 0.01
R7768:Asgr2 UTSW 11 69,996,242 (GRCm39) missense probably damaging 0.99
R9565:Asgr2 UTSW 11 69,996,310 (GRCm39) critical splice donor site probably null
R9609:Asgr2 UTSW 11 69,988,667 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GACATATCCCGTCACTGCTC -3'
(R):5'- TGATCTCCATCTGCACCCAG -3'

Sequencing Primer
(F):5'- ACTGCTCCATTCTGAAGGGACAG -3'
(R):5'- TCACTGCCCCAGCACTG -3'
Posted On 2018-11-28