Incidental Mutation 'R2039:Msr1'
ID |
225429 |
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 |
040046-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R2039 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
40034726-40095714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 40042418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 386
(W386R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026021]
|
AlphaFold |
P30204 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026021
AA Change: W386R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026021 Gene: ENSMUSG00000025044 AA Change: W386R
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 |
0.7006 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
96% (45/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
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 |
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 |
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 |
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'- GCTTTCAAGAATTGGGACGATAGAG -3'
(R):5'- AATACTCGGGTCCAACCACG -3'
Sequencing Primer
(F):5'- AGACAGTGCTGCACATGC -3'
(R):5'- GGTCCAACCACGACCCCTG -3'
|
Posted On |
2014-08-25 |