Incidental Mutation 'IGL02347:Msr1'
| ID |
289333 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Msr1
|
| Ensembl Gene |
ENSMUSG00000025044 |
| Gene Name |
macrophage scavenger receptor 1 |
| Synonyms |
SR-AII, Scara1, MRS-A, Scvr, MSR-A, SR-AI |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
40034726-40095714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 40085778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 34
(T34K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026021]
[ENSMUST00000170091]
[ENSMUST00000210525]
|
| AlphaFold |
P30204 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026021
AA Change: T34K
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: T34K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
Pfam:Macscav_rec
|
125 |
173 |
1.5e-28 |
PFAM |
|
coiled coil region
|
209 |
259 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
275 |
330 |
3.2e-11 |
PFAM |
|
Pfam:Collagen
|
295 |
353 |
4.8e-10 |
PFAM |
|
SR
|
357 |
457 |
5.68e-56 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170091
AA Change: T34K
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044
AA Change: T34K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
Pfam:Macscav_rec
|
125 |
173 |
6.6e-34 |
PFAM |
|
Pfam:Collagen
|
275 |
330 |
1.9e-10 |
PFAM |
|
Pfam:Collagen
|
292 |
352 |
7.4e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210525
AA Change: T34K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210681
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal uptake and degradation of acetylated low density lipoproteins by macrophages, increased interleukin-12 secretion in response to CpG oligodeoxynucleotide administration, and increased bacterial and viral infection induced morbidity/mortality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,452,835 (GRCm39) |
K35* |
probably null |
Het |
| Adad2 |
G |
T |
8: 120,343,408 (GRCm39) |
G546V |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,311,105 (GRCm39) |
K7E |
probably benign |
Het |
| C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
| Car12 |
T |
A |
9: 66,671,629 (GRCm39) |
V352D |
possibly damaging |
Het |
| Cyp2d11 |
G |
A |
15: 82,274,681 (GRCm39) |
R299C |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,910,487 (GRCm39) |
|
probably null |
Het |
| Eddm13 |
A |
G |
7: 6,272,883 (GRCm39) |
I79M |
possibly damaging |
Het |
| Egf |
A |
T |
3: 129,472,026 (GRCm39) |
N1199K |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,600 (GRCm39) |
W568R |
possibly damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,359 (GRCm39) |
D90G |
probably damaging |
Het |
| Emc3 |
A |
G |
6: 113,497,533 (GRCm39) |
M106T |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,587,757 (GRCm39) |
K514E |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Frg2f1 |
A |
C |
4: 119,387,929 (GRCm39) |
L190R |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,270,023 (GRCm39) |
|
probably null |
Het |
| Glis3 |
A |
G |
19: 28,509,283 (GRCm39) |
F234L |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,530,557 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
T |
A |
17: 36,596,505 (GRCm39) |
E113D |
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,441,756 (GRCm39) |
T685A |
probably benign |
Het |
| Mrpl19 |
A |
T |
6: 81,938,992 (GRCm39) |
M270K |
probably damaging |
Het |
| Msantd4 |
G |
T |
9: 4,384,734 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
C |
T |
18: 12,332,691 (GRCm39) |
V780M |
probably benign |
Het |
| Nsun6 |
A |
G |
2: 15,034,831 (GRCm39) |
|
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,912,695 (GRCm39) |
|
probably benign |
Het |
| Nucb2 |
A |
C |
7: 116,135,113 (GRCm39) |
Q340P |
probably benign |
Het |
| Nup50l |
A |
T |
6: 96,142,511 (GRCm39) |
Y178N |
probably damaging |
Het |
| Or2l13b |
A |
G |
16: 19,349,529 (GRCm39) |
L47P |
probably damaging |
Het |
| Or3a1b |
C |
T |
11: 74,012,397 (GRCm39) |
T94I |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,172,277 (GRCm39) |
E357G |
probably benign |
Het |
| Pabpc6 |
C |
T |
17: 9,887,993 (GRCm39) |
R186K |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,653,350 (GRCm39) |
K83R |
probably damaging |
Het |
| Ppid |
A |
G |
3: 79,502,526 (GRCm39) |
I82V |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,229,471 (GRCm39) |
V27E |
probably benign |
Het |
| Rnaseh1 |
A |
T |
12: 28,707,629 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,729 (GRCm39) |
V89A |
probably benign |
Het |
| Siglecf |
G |
A |
7: 43,001,145 (GRCm39) |
V38I |
possibly damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,149,780 (GRCm39) |
|
probably null |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,643,520 (GRCm39) |
D953E |
probably benign |
Het |
| Strbp |
A |
C |
2: 37,535,660 (GRCm39) |
V16G |
probably benign |
Het |
| Sycp1 |
A |
T |
3: 102,800,863 (GRCm39) |
M567K |
probably benign |
Het |
| Tedc2 |
A |
C |
17: 24,439,584 (GRCm39) |
V19G |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,950,812 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,539,564 (GRCm39) |
V26147E |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,574 (GRCm39) |
S51P |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,316,067 (GRCm39) |
T488A |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,817,390 (GRCm39) |
Y945C |
probably damaging |
Het |
|
| Other mutations in Msr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01535:Msr1
|
APN |
8 |
40,064,714 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02047:Msr1
|
APN |
8 |
40,077,001 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02218:Msr1
|
APN |
8 |
40,042,357 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02546:Msr1
|
APN |
8 |
40,068,788 (GRCm39) |
missense |
probably benign |
|
|
IGL02707:Msr1
|
APN |
8 |
40,085,870 (GRCm39) |
splice site |
probably benign |
|
|
IGL03340:Msr1
|
APN |
8 |
40,073,048 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0349:Msr1
|
UTSW |
8 |
40,034,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0378:Msr1
|
UTSW |
8 |
40,042,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0633:Msr1
|
UTSW |
8 |
40,073,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1386:Msr1
|
UTSW |
8 |
40,042,334 (GRCm39) |
nonsense |
probably null |
|
|
R1807:Msr1
|
UTSW |
8 |
40,072,948 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2039:Msr1
|
UTSW |
8 |
40,042,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Msr1
|
UTSW |
8 |
40,084,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Msr1
|
UTSW |
8 |
40,077,263 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3983:Msr1
|
UTSW |
8 |
40,073,059 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4807:Msr1
|
UTSW |
8 |
40,095,668 (GRCm39) |
start gained |
probably benign |
|
|
R4921:Msr1
|
UTSW |
8 |
40,077,292 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5055:Msr1
|
UTSW |
8 |
40,076,997 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5567:Msr1
|
UTSW |
8 |
40,064,760 (GRCm39) |
missense |
probably benign |
|
|
R5570:Msr1
|
UTSW |
8 |
40,064,760 (GRCm39) |
missense |
probably benign |
|
|
R5871:Msr1
|
UTSW |
8 |
40,064,693 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5914:Msr1
|
UTSW |
8 |
40,034,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Msr1
|
UTSW |
8 |
40,084,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Msr1
|
UTSW |
8 |
40,068,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6519:Msr1
|
UTSW |
8 |
40,077,262 (GRCm39) |
missense |
probably benign |
|
|
R6527:Msr1
|
UTSW |
8 |
40,077,274 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6842:Msr1
|
UTSW |
8 |
40,085,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7006:Msr1
|
UTSW |
8 |
40,042,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7047:Msr1
|
UTSW |
8 |
40,095,657 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7135:Msr1
|
UTSW |
8 |
40,042,465 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7552:Msr1
|
UTSW |
8 |
40,077,003 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7837:Msr1
|
UTSW |
8 |
40,034,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8995:Msr1
|
UTSW |
8 |
40,042,460 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9707:Msr1
|
UTSW |
8 |
40,076,988 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9723:Msr1
|
UTSW |
8 |
40,042,357 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1177:Msr1
|
UTSW |
8 |
40,084,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation