Incidental Mutation 'R4293:Asgr2'
ID 323177
Institutional Source Beutler Lab
Gene Symbol Asgr2
Ensembl Gene ENSMUSG00000040963
Gene Name asialoglycoprotein receptor 2
Synonyms Asgr-2, ASGPR2, Asgr
MMRRC Submission 041082-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4293 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69983470-69997013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69989057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 167 (T167K)
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: T167K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099632
Gene: ENSMUSG00000040963
AA Change: T167K

DomainStartEndE-ValueType
Pfam:Lectin_N 29 162 1.5e-58 PFAM
CLECT 170 294 3.51e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124721
AA Change: T167K

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121189
Gene: ENSMUSG00000040963
AA Change: T167K

DomainStartEndE-ValueType
Pfam:Lectin_N 25 162 1e-69 PFAM
CLECT 170 226 1.12e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143772
AA Change: T64K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000136505
Gene: ENSMUSG00000040963
AA Change: T64K

DomainStartEndE-ValueType
Pfam:Lectin_N 1 59 7.5e-27 PFAM
CLECT 67 191 3.51e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179757
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (60/61)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T C 19: 4,915,468 (GRCm39) E428G probably benign Het
Arfgef2 T C 2: 166,732,211 (GRCm39) I1600T probably benign Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Bms1 T C 6: 118,382,308 (GRCm39) probably null Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cdca2 T C 14: 67,952,299 (GRCm39) D24G probably benign Het
Celsr2 T C 3: 108,300,993 (GRCm39) R2767G probably benign Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Ddx18 T C 1: 121,489,121 (GRCm39) T309A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Fbf1 A G 11: 116,039,720 (GRCm39) L713P probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fnbp1 A G 2: 30,995,362 (GRCm39) F24S probably damaging Het
Gm16686 A T 4: 88,673,710 (GRCm39) probably benign Het
Gmps A G 3: 63,898,040 (GRCm39) M275V probably damaging Het
Igdcc4 A G 9: 65,031,892 (GRCm39) probably null Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mettl18 A G 1: 163,824,171 (GRCm39) D164G probably damaging Het
Myo5a A T 9: 75,051,453 (GRCm39) T349S probably benign Het
Or1ad6 T C 11: 50,860,253 (GRCm39) M136T probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Pik3c3 G A 18: 30,477,043 (GRCm39) A855T probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Rev1 A T 1: 38,147,500 (GRCm39) D13E possibly damaging Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Slc4a5 C T 6: 83,237,511 (GRCm39) R165C probably damaging Het
Slfn10-ps T C 11: 82,926,260 (GRCm39) noncoding transcript Het
Slfn9 T C 11: 82,873,334 (GRCm39) N523S probably benign Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tenm3 T C 8: 48,848,693 (GRCm39) T49A probably damaging Het
Tep1 T C 14: 51,084,318 (GRCm39) I954V probably benign Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwce A G 19: 10,636,996 (GRCm39) T693A probably benign Het
Xpr1 A G 1: 155,188,542 (GRCm39) F366S possibly damaging Het
Zfp317 A G 9: 19,557,990 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- ATGGAGTCACAAGCCTACCG -3'
(R):5'- TACTTGATCAAGCCTACCTTCAGG -3'

Sequencing Primer
(F):5'- AAGCCTACCGCATCTCTGC -3'
(R):5'- AGGTTTCCTTACCTGCTCCTC -3'
Posted On 2015-06-20