Incidental Mutation 'IGL01936:Asgr2'
ID180710
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: 0.092) question?
Stock #IGL01936
Quality Score
Status
Chromosome11
Chromosomal Location70092644-70106187 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 70098051 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102572] [ENSMUST00000102572] [ENSMUST00000124721] [ENSMUST00000143772]
Predicted Effect probably null
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 null
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 null
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 null
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,861,423 H127L probably benign Het
Adamtsl3 T C 7: 82,595,371 V419A possibly damaging Het
Arhgap31 T A 16: 38,602,925 L926F probably damaging Het
C3ar1 T A 6: 122,851,235 T8S probably benign Het
Caskin2 T C 11: 115,804,717 I273V probably damaging Het
Ccnl2 T A 4: 155,820,399 C242S probably damaging Het
Cdkn2a A T 4: 89,294,332 probably null Het
Cfap45 T G 1: 172,534,049 M231R probably damaging Het
Clcn7 A C 17: 25,155,376 N464H probably benign Het
Col20a1 T A 2: 181,009,368 probably benign Het
Col7a1 T A 9: 108,967,999 probably benign Het
Cops7a T C 6: 124,962,416 D90G probably benign Het
Ctcf T C 8: 105,670,232 V363A probably benign Het
Cyp2j12 A G 4: 96,133,069 V100A probably benign Het
Dcaf1 T A 9: 106,859,601 F1085Y possibly damaging Het
Drc7 T A 8: 95,074,132 F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,718,249 E1009* probably null Het
Epg5 C A 18: 77,985,101 R1286S probably damaging Het
Etv1 T C 12: 38,835,061 probably benign Het
Exosc7 T C 9: 123,135,891 probably benign Het
Fam227a T C 15: 79,612,546 D610G possibly damaging Het
Fat4 T A 3: 38,979,774 M2525K probably benign Het
Gimap5 G T 6: 48,753,065 A190S probably damaging Het
Glcci1 T A 6: 8,579,596 S79T probably damaging Het
Gm10093 T C 17: 78,492,129 V183A probably damaging Het
Gpnmb C T 6: 49,047,450 T233I probably null Het
Hyls1 T C 9: 35,562,067 I18V probably benign Het
Ighv1-63 C T 12: 115,495,654 E108K probably damaging Het
Ighv5-12 C A 12: 113,702,307 R57L probably damaging Het
Igkv5-37 T C 6: 69,963,339 Y107C probably damaging Het
Il20ra T A 10: 19,755,843 V264D probably damaging Het
Jph1 A T 1: 17,097,384 V74E probably damaging Het
Kcnab1 C T 3: 65,358,274 L280F probably damaging Het
Kcnk1 T C 8: 126,025,087 F144S probably damaging Het
Kcnq1 G A 7: 143,184,504 E294K possibly damaging Het
Kdm4b T A 17: 56,397,355 V813E probably damaging Het
Kntc1 T A 5: 123,811,376 F1937I probably damaging Het
Ldb2 G A 5: 44,480,244 R241W probably damaging Het
Lgr5 T C 10: 115,452,414 N703S probably damaging Het
Map4k1 A T 7: 28,988,607 M227L possibly damaging Het
Mbnl1 T A 3: 60,613,519 M268K possibly damaging Het
Mcm2 C A 6: 88,891,726 G350C probably damaging Het
Myh2 A T 11: 67,191,773 T1390S possibly damaging Het
Npat T A 9: 53,558,226 probably benign Het
Nr2e1 T A 10: 42,567,973 D251V possibly damaging Het
Olfr1425 C T 19: 12,074,057 V192I probably benign Het
Olfr1461 C A 19: 13,165,403 P130T probably damaging Het
Olfr54 A G 11: 51,027,335 N111S probably benign Het
Plekha5 T A 6: 140,524,895 H87Q probably damaging Het
Polr3a A G 14: 24,479,188 V368A probably damaging Het
Psmb8 T A 17: 34,200,194 L154Q probably damaging Het
Rab40c A C 17: 25,884,670 C140G probably damaging Het
Ranbp17 G A 11: 33,487,689 T183I probably benign Het
Ruvbl2 T C 7: 45,428,698 E117G probably damaging Het
Serpinb3b T A 1: 107,154,638 M299L probably benign Het
Smpdl3a A G 10: 57,802,434 H111R probably damaging Het
Sspo C A 6: 48,475,887 P2843H probably damaging Het
Stk39 T C 2: 68,314,564 T389A probably benign Het
Synrg T A 11: 84,019,705 F1000Y probably benign Het
Thbs2 C T 17: 14,687,814 S229N probably benign Het
Thsd1 G A 8: 22,252,231 C305Y probably damaging Het
Ticrr C A 7: 79,694,549 D1387E probably benign Het
Tmem145 G T 7: 25,311,391 A383S probably damaging Het
Tmprss4 A G 9: 45,179,420 V187A probably damaging Het
Unc13c T A 9: 73,693,242 M1407L probably benign Het
Vps39 C T 2: 120,323,128 G655D probably benign Het
Wwtr1 T C 3: 57,574,820 probably benign Het
Xrn1 T C 9: 96,048,344 S1535P probably damaging Het
Other mutations in Asgr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01586:Asgr2 APN 11 70105367 splice site probably benign
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 On2014-05-07