Incidental Mutation 'IGL02827:Asgr2'
| ID |
361240 |
| 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)
|
| Stock # |
IGL02827
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69983470-69997013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69987723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 74
(I74V)
|
| 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: I74V
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099632
Gene: ENSMUSG00000040963
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
29 |
162 |
1.5e-58 |
PFAM |
|
CLECT
|
170 |
294 |
3.51e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124721
AA Change: I74V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000121189
Gene: ENSMUSG00000040963
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,845,699 (GRCm39) |
S1554P |
probably damaging |
Het |
| Actn2 |
A |
T |
13: 12,290,085 (GRCm39) |
L152Q |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,559,015 (GRCm39) |
I369V |
probably damaging |
Het |
| Aqp6 |
G |
A |
15: 99,500,892 (GRCm39) |
G199S |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,236,760 (GRCm39) |
R702G |
probably damaging |
Het |
| Cers1 |
C |
T |
8: 70,774,177 (GRCm39) |
P145S |
probably damaging |
Het |
| Ddx21 |
T |
C |
10: 62,434,153 (GRCm39) |
K202R |
probably benign |
Het |
| Gphn |
A |
T |
12: 78,655,994 (GRCm39) |
D407V |
probably damaging |
Het |
| Hnf1b |
A |
G |
11: 83,746,752 (GRCm39) |
K123E |
probably damaging |
Het |
| Ifitm10 |
T |
C |
7: 141,882,317 (GRCm39) |
D151G |
unknown |
Het |
| Ifna14 |
T |
A |
4: 88,489,601 (GRCm39) |
K145N |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,015,527 (GRCm39) |
C602Y |
probably damaging |
Het |
| Mrps25 |
T |
C |
6: 92,152,163 (GRCm39) |
E119G |
probably benign |
Het |
| Or10ak9 |
A |
T |
4: 118,726,157 (GRCm39) |
M60L |
probably damaging |
Het |
| Or1f12 |
A |
G |
13: 21,721,528 (GRCm39) |
S216P |
probably benign |
Het |
| Pgm5 |
C |
A |
19: 24,686,659 (GRCm39) |
R516L |
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,331 (GRCm39) |
A457V |
probably damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,518,849 (GRCm39) |
L48P |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,113,546 (GRCm39) |
R140C |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,635,085 (GRCm39) |
I717T |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,146,230 (GRCm39) |
S1203N |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,678,592 (GRCm39) |
T132A |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,591 (GRCm39) |
I188M |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,815,701 (GRCm39) |
T33A |
probably benign |
Het |
| Stxbp3 |
A |
T |
3: 108,717,211 (GRCm39) |
I264N |
probably damaging |
Het |
| Tmem60 |
T |
A |
5: 21,091,622 (GRCm39) |
F129Y |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,868,908 (GRCm39) |
D404G |
probably null |
Het |
| Unc79 |
A |
C |
12: 103,041,105 (GRCm39) |
S713R |
possibly damaging |
Het |
| Uox |
A |
C |
3: 146,302,951 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,800 (GRCm39) |
D38G |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,618,998 (GRCm39) |
D2856G |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,114,293 (GRCm39) |
L205P |
probably damaging |
Het |
|
| Other mutations in Asgr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation