Incidental Mutation 'IGL01586:Asgr2'
ID91824
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: 0.111) question?
Stock #IGL01586
Quality Score
Status
Chromosome11
Chromosomal Location70092644-70106187 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 70105367 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102572] [ENSMUST00000124721] [ENSMUST00000143772]
Predicted Effect probably benign
Transcript: ENSMUST00000102572
SMART Domains Protein: ENSMUSP00000099632
Gene: ENSMUSG00000040963

DomainStartEndE-ValueType
Pfam:Lectin_N 29 162 1.5e-58 PFAM
CLECT 170 294 3.51e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124721
SMART Domains Protein: ENSMUSP00000121189
Gene: ENSMUSG00000040963

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,128,515 Y144N unknown Het
Abca9 A C 11: 110,154,417 C363W probably damaging Het
Acmsd G A 1: 127,759,710 R243H probably damaging Het
Adam33 T C 2: 131,054,050 T490A probably damaging Het
Ank1 A G 8: 23,120,912 D1411G probably benign Het
Arhgap39 T C 15: 76,730,438 E842G probably benign Het
Bbs9 T C 9: 22,645,997 V14A possibly damaging Het
Cer1 A G 4: 82,884,843 S81P probably damaging Het
Cln6 T A 9: 62,844,618 H41Q probably damaging Het
Dock1 A G 7: 134,753,377 D334G probably damaging Het
Dpy19l2 A G 9: 24,666,975 I261T probably benign Het
Fhod3 T G 18: 25,090,747 I1050S probably damaging Het
Gbgt1 T C 2: 28,497,830 V22A probably benign Het
Izumo3 A G 4: 92,146,295 probably null Het
Kif11 T C 19: 37,384,233 probably benign Het
Krt2 C A 15: 101,811,390 G615V unknown Het
Midn A G 10: 80,156,643 probably benign Het
Mier1 C T 4: 103,155,572 T342I probably damaging Het
Mycbp2 A T 14: 103,140,869 probably null Het
Nrp1 A T 8: 128,432,032 S267C possibly damaging Het
Olfr145 A G 9: 37,897,976 T191A possibly damaging Het
Pcdh20 A T 14: 88,470,908 M28K probably benign Het
Prmt5 G A 14: 54,509,951 probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rps6ka5 T C 12: 100,570,914 E519G probably damaging Het
Samm50 T A 15: 84,195,838 I39N probably benign Het
Shc2 A T 10: 79,622,304 M515K probably damaging Het
Sorbs2 T A 8: 45,795,594 F608L probably damaging Het
Sos2 T C 12: 69,607,398 K727E probably damaging Het
Sox13 A T 1: 133,389,444 H150Q possibly damaging Het
Tmem132e T C 11: 82,434,669 V165A probably damaging Het
Trmt11 T C 10: 30,597,751 T43A probably benign Het
Tyrp1 G T 4: 80,844,898 V341L probably benign Het
Ugt2b35 C A 5: 87,011,391 H481Q probably benign Het
Zzz3 T A 3: 152,455,839 I290N possibly damaging Het
Other mutations in Asgr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Asgr2 APN 11 70098051 critical splice acceptor site probably null
IGL02827:Asgr2 APN 11 70096897 missense probably benign 0.05
IGL03034:Asgr2 APN 11 70098263 missense probably damaging 0.99
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 On2013-12-09