Incidental Mutation 'IGL03340:Msr1'
ID |
417174 |
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: 0.060)
|
Stock # |
IGL03340
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
40034726-40095714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40073048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 234
(K234E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026021]
[ENSMUST00000170091]
[ENSMUST00000210525]
|
AlphaFold |
P30204 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026021
AA Change: K234E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000026021 Gene: ENSMUSG00000025044 AA Change: K234E
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: K234E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000132535 Gene: ENSMUSG00000025044 AA Change: K234E
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 benign
Transcript: ENSMUST00000210525
AA Change: K168E
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
A |
G |
12: 55,126,786 (GRCm39) |
L26P |
probably benign |
Het |
Aff1 |
A |
T |
5: 103,931,670 (GRCm39) |
H104L |
possibly damaging |
Het |
Apon |
T |
C |
10: 128,090,847 (GRCm39) |
I175T |
probably benign |
Het |
C2cd6 |
A |
C |
1: 59,115,830 (GRCm39) |
F168V |
probably benign |
Het |
Cgn |
C |
T |
3: 94,685,405 (GRCm39) |
|
probably benign |
Het |
Cramp1 |
G |
A |
17: 25,192,516 (GRCm39) |
P956L |
probably damaging |
Het |
Cyp2e1 |
G |
A |
7: 140,344,767 (GRCm39) |
V78M |
probably damaging |
Het |
Cyp4b1 |
G |
A |
4: 115,499,076 (GRCm39) |
P97S |
probably damaging |
Het |
Fads2 |
G |
T |
19: 10,069,136 (GRCm39) |
P96Q |
possibly damaging |
Het |
Fcer2a |
T |
C |
8: 3,738,310 (GRCm39) |
D120G |
possibly damaging |
Het |
Fhip1b |
A |
G |
7: 105,038,517 (GRCm39) |
S241P |
probably damaging |
Het |
Gm21972 |
G |
T |
1: 86,061,450 (GRCm39) |
A887S |
probably damaging |
Het |
Grk6 |
A |
G |
13: 55,601,003 (GRCm39) |
D295G |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,740,668 (GRCm39) |
V270D |
possibly damaging |
Het |
Kcnk2 |
T |
A |
1: 189,027,878 (GRCm39) |
I126F |
possibly damaging |
Het |
Kifap3 |
T |
G |
1: 163,656,718 (GRCm39) |
V346G |
possibly damaging |
Het |
Kpna1 |
T |
A |
16: 35,820,616 (GRCm39) |
N20K |
probably damaging |
Het |
Krt33b |
A |
G |
11: 99,916,298 (GRCm39) |
|
probably benign |
Het |
Krtap9-5 |
T |
C |
11: 99,839,427 (GRCm39) |
C43R |
possibly damaging |
Het |
Lars1 |
G |
A |
18: 42,361,715 (GRCm39) |
|
probably benign |
Het |
Lifr |
T |
C |
15: 7,207,417 (GRCm39) |
W540R |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,358,981 (GRCm39) |
S631P |
probably damaging |
Het |
Mbd1 |
G |
T |
18: 74,407,553 (GRCm39) |
R111L |
probably benign |
Het |
Meltf |
C |
T |
16: 31,711,602 (GRCm39) |
T576M |
probably damaging |
Het |
Mmp20 |
G |
A |
9: 7,643,995 (GRCm39) |
G228S |
probably damaging |
Het |
Mob4 |
A |
G |
1: 55,175,867 (GRCm39) |
D37G |
possibly damaging |
Het |
Myof |
A |
G |
19: 37,899,607 (GRCm39) |
V1764A |
probably damaging |
Het |
Naaladl1 |
A |
G |
19: 6,156,229 (GRCm39) |
Y105C |
possibly damaging |
Het |
Nisch |
A |
G |
14: 30,895,101 (GRCm39) |
V1065A |
probably damaging |
Het |
Npas4 |
A |
T |
19: 5,035,094 (GRCm39) |
|
probably benign |
Het |
Or4c124 |
T |
C |
2: 89,156,039 (GRCm39) |
T162A |
possibly damaging |
Het |
Pdss2 |
A |
G |
10: 43,269,997 (GRCm39) |
D280G |
probably benign |
Het |
Plk3 |
A |
G |
4: 116,990,125 (GRCm39) |
I182T |
probably damaging |
Het |
Ppm1k |
A |
G |
6: 57,487,711 (GRCm39) |
W371R |
probably damaging |
Het |
Samm50 |
T |
C |
15: 84,082,864 (GRCm39) |
|
probably null |
Het |
Scaper |
G |
T |
9: 55,510,116 (GRCm39) |
T640K |
possibly damaging |
Het |
Sun3 |
A |
C |
11: 8,973,285 (GRCm39) |
|
probably benign |
Het |
Svep1 |
T |
A |
4: 58,111,451 (GRCm39) |
K1056M |
possibly damaging |
Het |
Tgs1 |
C |
A |
4: 3,604,813 (GRCm39) |
P745Q |
probably benign |
Het |
Tomm20l |
A |
T |
12: 71,164,388 (GRCm39) |
|
probably benign |
Het |
Usp38 |
A |
C |
8: 81,738,905 (GRCm39) |
L237V |
probably damaging |
Het |
Vmn1r210 |
T |
C |
13: 23,011,644 (GRCm39) |
Y214C |
probably benign |
Het |
Zan |
G |
A |
5: 137,426,136 (GRCm39) |
P2547S |
unknown |
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 |
|
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 |
2016-08-02 |