Incidental Mutation 'R6224:Asgr2'
ID 504204
Institutional Source Beutler Lab
Gene Symbol Asgr2
Ensembl Gene ENSMUSG00000040963
Gene Name asialoglycoprotein receptor 2
Synonyms Asgr-2, ASGPR2, Asgr
MMRRC Submission 044355-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R6224 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69983470-69997013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69989072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 172 (V172A)
Ref Sequence ENSEMBL: ENSMUSP00000121189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102572] [ENSMUST00000124721] [ENSMUST00000143772]
AlphaFold P24721
Predicted Effect probably benign
Transcript: ENSMUST00000102572
AA Change: V172A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099632
Gene: ENSMUSG00000040963
AA Change: V172A

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: V172A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121189
Gene: ENSMUSG00000040963
AA Change: V172A

DomainStartEndE-ValueType
Pfam:Lectin_N 25 162 1e-69 PFAM
CLECT 170 226 1.12e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143772
AA Change: V69A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000136505
Gene: ENSMUSG00000040963
AA Change: V69A

DomainStartEndE-ValueType
Pfam:Lectin_N 1 59 7.5e-27 PFAM
CLECT 67 191 3.51e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179757
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A C 11: 99,728,840 (GRCm39) M1R probably null Het
4930505A04Rik A C 11: 30,404,815 (GRCm39) N29K probably benign Het
Adamtsl4 T C 3: 95,589,039 (GRCm39) Y464C probably damaging Het
Atad1 T C 19: 32,676,028 (GRCm39) Y132C probably damaging Het
Bpifa6 G A 2: 153,829,073 (GRCm39) R200H probably damaging Het
Brd1 A T 15: 88,572,558 (GRCm39) M1171K possibly damaging Het
Cadm2 A T 16: 66,461,281 (GRCm39) L392Q probably damaging Het
Ccdc183 C T 2: 25,500,594 (GRCm39) E333K possibly damaging Het
Cenpe T C 3: 134,949,536 (GRCm39) I1335T possibly damaging Het
Cpxm2 T C 7: 131,745,460 (GRCm39) N122D probably benign Het
Crls1 T A 2: 132,691,770 (GRCm39) probably null Het
Cyp46a1 T C 12: 108,327,819 (GRCm39) F460S probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcps T A 9: 35,047,777 (GRCm39) T128S probably benign Het
Dcun1d3 A T 7: 119,458,714 (GRCm39) L107* probably null Het
Eml1 T C 12: 108,480,767 (GRCm39) F397S probably damaging Het
Fanca T A 8: 124,032,020 (GRCm39) H348L possibly damaging Het
Foxo1 T A 3: 52,253,093 (GRCm39) S419T probably benign Het
Gli3 T C 13: 15,899,730 (GRCm39) V1039A probably benign Het
Gng14 A T 8: 85,794,220 (GRCm39) *73R probably null Het
Gp6 A T 7: 4,397,211 (GRCm39) F75I probably benign Het
Gpha2 T A 19: 6,277,142 (GRCm39) I81N possibly damaging Het
Gspt1 C A 16: 11,042,406 (GRCm39) V493L probably benign Het
Igsf10 C A 3: 59,232,931 (GRCm39) C1934F probably damaging Het
Irgm1 T C 11: 48,757,713 (GRCm39) T49A probably benign Het
Klc4 A G 17: 46,950,988 (GRCm39) I207T possibly damaging Het
Krt1 A T 15: 101,758,702 (GRCm39) V154D possibly damaging Het
Lama1 T C 17: 68,109,982 (GRCm39) V2201A possibly damaging Het
Lilrb4a T A 10: 51,367,745 (GRCm39) Y96N probably damaging Het
Lrfn2 A G 17: 49,403,379 (GRCm39) T501A probably damaging Het
Lrriq1 A G 10: 103,051,618 (GRCm39) I378T probably damaging Het
Mphosph8 T C 14: 56,905,810 (GRCm39) M1T probably null Het
Nsd1 T C 13: 55,460,945 (GRCm39) S2391P possibly damaging Het
Ogdhl G A 14: 32,064,018 (GRCm39) G647D probably benign Het
Or5p57 T C 7: 107,665,949 (GRCm39) I19V probably benign Het
Or6c76b A G 10: 129,693,061 (GRCm39) K225E probably benign Het
Pbrm1 T A 14: 30,772,068 (GRCm39) H387Q probably benign Het
Pdgfrb C A 18: 61,215,011 (GRCm39) Y1013* probably null Het
Pitrm1 T C 13: 6,615,090 (GRCm39) V562A probably damaging Het
Pnpla8 T C 12: 44,329,811 (GRCm39) V121A possibly damaging Het
Psd4 T C 2: 24,291,569 (GRCm39) L639P probably damaging Het
Psmc3 G T 2: 90,884,975 (GRCm39) R47L probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sesn2 A G 4: 132,229,881 (GRCm39) V50A probably benign Het
Skic3 C T 13: 76,266,410 (GRCm39) T219M probably benign Het
Slc6a16 G A 7: 44,910,572 (GRCm39) G377S probably damaging Het
Slitrk1 A G 14: 109,149,454 (GRCm39) F419S probably damaging Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Spata31d1a T A 13: 59,854,134 (GRCm39) probably benign Homo
Tgoln1 A T 6: 72,592,984 (GRCm39) D165E possibly damaging Het
Tmprss15 T A 16: 78,821,266 (GRCm39) T492S probably benign Het
Zc3h13 T A 14: 75,574,849 (GRCm39) M1565K probably damaging Het
Zcwpw1 T C 5: 137,810,298 (GRCm39) V358A possibly damaging Het
Zfp607a A G 7: 27,578,007 (GRCm39) H359R probably damaging Het
Zzef1 T A 11: 72,746,209 (GRCm39) V837E probably damaging 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
R6981:Asgr2 UTSW 11 69,987,636 (GRCm39) missense probably damaging 0.96
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'- ATGGAGTCACAAGCCTACCG -3'
(R):5'- CTTGATCAGGCTACTTGATCAAGC -3'

Sequencing Primer
(F):5'- ACATTGCTCTTTCACCTGAAGCAC -3'
(R):5'- ACTTGATCAAGCCTACCTTCAGG -3'
Posted On 2018-02-28