Incidental Mutation 'IGL03034:Asgr2'
ID 408564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asgr2
Ensembl Gene ENSMUSG00000040963
Gene Name asialoglycoprotein receptor 2
Synonyms Asgr-2, ASGPR2, Asgr
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL03034
Quality Score
Status
Chromosome 11
Chromosomal Location 69983470-69997013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69989089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 178 (G178W)
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: G178W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099632
Gene: ENSMUSG00000040963
AA Change: G178W

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: G178W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121189
Gene: ENSMUSG00000040963
AA Change: G178W

DomainStartEndE-ValueType
Pfam:Lectin_N 25 162 1e-69 PFAM
CLECT 170 226 1.12e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143772
AA Change: G75W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136505
Gene: ENSMUSG00000040963
AA Change: G75W

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
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,780,908 (GRCm39) probably benign Het
Ablim2 A G 5: 35,985,509 (GRCm39) T269A probably benign Het
Chtf18 A G 17: 25,946,320 (GRCm39) probably benign Het
Cnmd C T 14: 79,879,368 (GRCm39) A257T probably benign Het
Cox7a1 A G 7: 29,884,693 (GRCm39) probably benign Het
Cpox C T 16: 58,495,718 (GRCm39) T345M probably damaging Het
Crisp1 T C 17: 40,618,619 (GRCm39) T81A probably benign Het
Dcc T A 18: 71,708,214 (GRCm39) R501* probably null Het
Dlx6 A C 6: 6,863,807 (GRCm39) Q143P probably benign Het
Dpp10 T A 1: 123,269,348 (GRCm39) Y687F probably damaging Het
Eif2b1 A G 5: 124,709,894 (GRCm39) V228A probably benign Het
Enpep T C 3: 129,092,599 (GRCm39) D528G probably damaging Het
Fbxo6 G A 4: 148,230,579 (GRCm39) Q228* probably null Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Kctd9 T A 14: 67,971,728 (GRCm39) S268T probably benign Het
Kifap3 G A 1: 163,715,846 (GRCm39) V749M probably benign Het
Mdm4 T C 1: 132,938,809 (GRCm39) D94G probably damaging Het
Mllt10 T G 2: 18,069,847 (GRCm39) M1R probably null Het
Mtcl1 T C 17: 66,651,193 (GRCm39) Y1424C probably damaging Het
Mybpc2 A T 7: 44,161,321 (GRCm39) I549N possibly damaging Het
Myocd T C 11: 65,109,511 (GRCm39) T87A probably benign Het
Nr3c2 T G 8: 77,914,267 (GRCm39) Y824* probably null Het
Omg T A 11: 79,392,947 (GRCm39) T304S possibly damaging Het
Or4b1 A G 2: 89,980,177 (GRCm39) Y58H probably damaging Het
Or52p2 G A 7: 102,237,147 (GRCm39) H268Y probably benign Het
Or5an1b T C 19: 12,300,018 (GRCm39) T58A possibly damaging Het
Or5b97 T C 19: 12,879,121 (GRCm39) T8A possibly damaging Het
Or6c2 A T 10: 129,362,527 (GRCm39) I144F probably benign Het
Pde3a G A 6: 141,438,126 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,469,252 (GRCm39) K129E probably damaging Het
Phka2 G T X: 159,360,546 (GRCm39) E858* probably null Het
Pp2d1 T C 17: 53,815,081 (GRCm39) T548A possibly damaging Het
Prr14l G A 5: 32,984,782 (GRCm39) A1571V possibly damaging Het
Rbms3 A G 9: 117,080,879 (GRCm39) probably benign Het
Sparcl1 T C 5: 104,241,103 (GRCm39) E107G probably damaging Het
Stra6l A G 4: 45,885,392 (GRCm39) D620G probably benign Het
Traf3ip2 A T 10: 39,502,215 (GRCm39) K121I probably damaging Het
Ttc34 T C 4: 154,945,640 (GRCm39) S734P probably damaging Het
Zfp953 C T 13: 67,491,526 (GRCm39) C142Y probably damaging Het
Zfp955b T A 17: 33,521,142 (GRCm39) C204S probably benign 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
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
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
Posted On 2016-08-02