Incidental Mutation 'IGL03034:Asgr2'
ID408564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asgr2
Ensembl Gene ENSMUSG00000040963
Gene Nameasialoglycoprotein receptor 2
SynonymsASGPR2, Asgr-2, Asgr
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL03034
Quality Score
Status
Chromosome11
Chromosomal Location70092644-70106187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 70098263 bp
ZygosityHeterozygous
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]
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: 81,890,082 probably benign Het
Ablim2 A G 5: 35,828,165 T269A probably benign Het
Chtf18 A G 17: 25,727,346 probably benign Het
Cnmd C T 14: 79,641,928 A257T probably benign Het
Cox7a1 A G 7: 30,185,268 probably benign Het
Cpox C T 16: 58,675,355 T345M probably damaging Het
Crisp1 T C 17: 40,307,728 T81A probably benign Het
Dcc T A 18: 71,575,143 R501* probably null Het
Dlx6 A C 6: 6,863,807 Q143P probably benign Het
Dpp10 T A 1: 123,341,619 Y687F probably damaging Het
Eif2b1 A G 5: 124,571,831 V228A probably benign Het
Enpep T C 3: 129,298,950 D528G probably damaging Het
Fbxo6 G A 4: 148,146,122 Q228* probably null Het
Iars T A 13: 49,690,489 N146K possibly damaging Het
Kctd9 T A 14: 67,734,279 S268T probably benign Het
Kifap3 G A 1: 163,888,277 V749M probably benign Het
Mdm4 T C 1: 133,011,071 D94G probably damaging Het
Mllt10 T G 2: 18,065,036 M1R probably null Het
Mtcl1 T C 17: 66,344,198 Y1424C probably damaging Het
Mybpc2 A T 7: 44,511,897 I549N possibly damaging Het
Myocd T C 11: 65,218,685 T87A probably benign Het
Nr3c2 T G 8: 77,187,638 Y824* probably null Het
Olfr1270 A G 2: 90,149,833 Y58H probably damaging Het
Olfr1437 T C 19: 12,322,654 T58A possibly damaging Het
Olfr1447 T C 19: 12,901,757 T8A possibly damaging Het
Olfr551 G A 7: 102,587,940 H268Y probably benign Het
Olfr791 A T 10: 129,526,658 I144F probably benign Het
Omg T A 11: 79,502,121 T304S possibly damaging Het
Pde3a G A 6: 141,492,400 probably benign Het
Phf20l1 A G 15: 66,597,403 K129E probably damaging Het
Phka2 G T X: 160,577,550 E858* probably null Het
Pp2d1 T C 17: 53,508,053 T548A possibly damaging Het
Prr14l G A 5: 32,827,438 A1571V possibly damaging Het
Rbms3 A G 9: 117,251,811 probably benign Het
Sparcl1 T C 5: 104,093,237 E107G probably damaging Het
Stra6l A G 4: 45,885,392 D620G probably benign Het
Traf3ip2 A T 10: 39,626,219 K121I probably damaging Het
Ttc34 T C 4: 154,861,183 S734P probably damaging Het
Zfp953 C T 13: 67,343,462 C142Y probably damaging Het
Zfp955b T A 17: 33,302,168 C204S probably benign Het
Other mutations in Asgr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01586:Asgr2 APN 11 70105367 splice site probably benign
IGL01936:Asgr2 APN 11 70098051 critical splice acceptor site probably null
IGL02827:Asgr2 APN 11 70096897 missense probably benign 0.05
R0569:Asgr2 UTSW 11 70097877 missense probably benign 0.04
R1240:Asgr2 UTSW 11 70096850 missense possibly damaging 0.81
R1748:Asgr2 UTSW 11 70096832 missense probably damaging 0.99
R1920:Asgr2 UTSW 11 70098297 missense possibly damaging 0.93
R3016:Asgr2 UTSW 11 70105409 missense probably damaging 0.97
R4293:Asgr2 UTSW 11 70098231 missense probably benign 0.43
R4423:Asgr2 UTSW 11 70105385 missense probably benign 0.44
R4988:Asgr2 UTSW 11 70097839 missense probably benign 0.05
R6224:Asgr2 UTSW 11 70098246 missense probably damaging 0.98
R6981:Asgr2 UTSW 11 70096810 missense probably damaging 0.96
R7715:Asgr2 UTSW 11 70096895 missense probably benign 0.01
R7768:Asgr2 UTSW 11 70105416 missense probably damaging 0.99
Posted On2016-08-02