Incidental Mutation 'R0378:Msr1'
ID |
36469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msr1
|
Ensembl Gene |
ENSMUSG00000025044 |
Gene Name |
macrophage scavenger receptor 1 |
Synonyms |
SR-AII, Scara1, MRS-A, Scvr, MSR-A, SR-AI |
MMRRC Submission |
038584-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R0378 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
40034726-40095714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40042423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 384
(D384G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026021]
|
AlphaFold |
P30204 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026021
AA Change: D384G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026021 Gene: ENSMUSG00000025044 AA Change: D384G
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 |
|
Meta Mutation Damage Score |
0.5849 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
95% (40/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
C |
A |
8: 114,469,749 (GRCm39) |
R651L |
probably damaging |
Het |
Amd1 |
T |
C |
10: 40,165,380 (GRCm39) |
D317G |
possibly damaging |
Het |
Artn |
A |
G |
4: 117,784,815 (GRCm39) |
|
probably benign |
Het |
Bub1b |
T |
A |
2: 118,471,604 (GRCm39) |
V988E |
probably benign |
Het |
Cyp2c65 |
G |
T |
19: 39,061,662 (GRCm39) |
C216F |
probably benign |
Het |
Cyp3a11 |
T |
C |
5: 145,805,417 (GRCm39) |
E200G |
probably benign |
Het |
Cyp3a25 |
T |
A |
5: 145,923,652 (GRCm39) |
K330N |
probably damaging |
Het |
Duox2 |
C |
A |
2: 122,115,064 (GRCm39) |
V1138L |
probably benign |
Het |
Erc2 |
A |
G |
14: 27,733,651 (GRCm39) |
D567G |
probably damaging |
Het |
Eri2 |
A |
G |
7: 119,393,139 (GRCm39) |
|
probably null |
Het |
Foxa3 |
A |
G |
7: 18,757,294 (GRCm39) |
Y17H |
probably damaging |
Het |
Fto |
T |
C |
8: 92,200,940 (GRCm39) |
S324P |
probably damaging |
Het |
Get3 |
A |
T |
8: 85,751,893 (GRCm39) |
M1K |
probably null |
Het |
Gls2 |
T |
G |
10: 128,043,180 (GRCm39) |
L457R |
probably benign |
Het |
Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,246,786 (GRCm39) |
R1508* |
probably null |
Het |
Kif21a |
T |
C |
15: 90,853,977 (GRCm39) |
|
probably null |
Het |
Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,290,404 (GRCm39) |
D456G |
probably damaging |
Het |
Mau2 |
A |
G |
8: 70,483,305 (GRCm39) |
S186P |
probably damaging |
Het |
Ncf4 |
T |
C |
15: 78,137,503 (GRCm39) |
V93A |
probably damaging |
Het |
Oas1f |
T |
G |
5: 120,994,489 (GRCm39) |
C337G |
probably damaging |
Het |
Or10al3 |
A |
G |
17: 38,011,932 (GRCm39) |
M124V |
probably damaging |
Het |
Or5p58 |
A |
T |
7: 107,694,429 (GRCm39) |
F116Y |
probably benign |
Het |
Or6c33 |
T |
A |
10: 129,853,872 (GRCm39) |
L214H |
probably damaging |
Het |
Pwwp3a |
C |
A |
10: 80,074,713 (GRCm39) |
|
probably null |
Het |
Rasl10b |
T |
C |
11: 83,309,519 (GRCm39) |
S159P |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Smg8 |
C |
A |
11: 86,971,249 (GRCm39) |
D841Y |
probably damaging |
Het |
Sox7 |
T |
C |
14: 64,181,398 (GRCm39) |
V65A |
probably damaging |
Het |
Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
Srsf10 |
A |
G |
4: 135,590,501 (GRCm39) |
Y142C |
possibly damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tcerg1l |
A |
G |
7: 137,878,384 (GRCm39) |
V326A |
probably benign |
Het |
Tcl1b5 |
T |
A |
12: 105,145,326 (GRCm39) |
W97R |
probably damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,856 (GRCm39) |
R198G |
possibly damaging |
Het |
Ube2ql1 |
T |
A |
13: 69,887,017 (GRCm39) |
Q148L |
possibly damaging |
Het |
Vmn1r5 |
A |
T |
6: 56,962,570 (GRCm39) |
I82L |
probably benign |
Het |
Wdr6 |
A |
T |
9: 108,453,063 (GRCm39) |
S273R |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,043,850 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
G |
A |
8: 107,152,138 (GRCm39) |
R617Q |
possibly 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 |
IGL02347:Msr1
|
APN |
8 |
40,085,778 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACATGCAGTGCTCATGAAGTTCTC -3'
(R):5'- CTCTTGACCAGTAGGTGGCGAAAATAG -3'
Sequencing Primer
(F):5'- CAGTGCTCATGAAGTTCTCAAAAC -3'
(R):5'- gagaagaggaggggaaggg -3'
|
Posted On |
2013-05-09 |