Incidental Mutation 'R6429:Msr1'
| ID |
518434 |
| 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 |
044567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6429 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
40034726-40095714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40068858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 213
(P213S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026021]
[ENSMUST00000170091]
[ENSMUST00000210525]
|
| AlphaFold |
P30204 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026021
AA Change: P279S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: P279S
| 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 |
probably damaging
Transcript: ENSMUST00000170091
AA Change: P279S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044
AA Change: P279S
| 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: P213S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
A |
5: 114,366,652 (GRCm39) |
E1565K |
probably damaging |
Het |
| Amy1 |
T |
C |
3: 113,363,158 (GRCm39) |
N63S |
probably damaging |
Het |
| Arhgef15 |
G |
T |
11: 68,838,622 (GRCm39) |
N591K |
probably damaging |
Het |
| AW551984 |
A |
G |
9: 39,511,910 (GRCm39) |
S34P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,081,298 (GRCm39) |
D127G |
probably damaging |
Het |
| Ccdc87 |
T |
A |
19: 4,891,263 (GRCm39) |
V585E |
probably benign |
Het |
| Cemip2 |
T |
C |
19: 21,779,272 (GRCm39) |
C361R |
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,421,345 (GRCm39) |
I223T |
probably damaging |
Het |
| Dgkq |
C |
T |
5: 108,801,574 (GRCm39) |
V495M |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,295,330 (GRCm39) |
I570T |
possibly damaging |
Het |
| Dstyk |
C |
T |
1: 132,377,542 (GRCm39) |
Q383* |
probably null |
Het |
| Emilin2 |
C |
A |
17: 71,617,951 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,406,393 (GRCm39) |
I1163M |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,248,094 (GRCm39) |
E1008K |
possibly damaging |
Het |
| Gm35315 |
A |
T |
5: 110,226,525 (GRCm39) |
Y305N |
possibly damaging |
Het |
| Grhl3 |
T |
A |
4: 135,284,507 (GRCm39) |
D195V |
probably damaging |
Het |
| Ift56 |
T |
A |
6: 38,375,248 (GRCm39) |
S250T |
possibly damaging |
Het |
| Il33 |
T |
C |
19: 29,929,400 (GRCm39) |
F41S |
probably benign |
Het |
| Il4 |
A |
G |
11: 53,504,736 (GRCm39) |
S15P |
possibly damaging |
Het |
| Inf2 |
C |
T |
12: 112,570,690 (GRCm39) |
P410S |
probably benign |
Het |
| Kalrn |
T |
A |
16: 34,152,534 (GRCm39) |
D349V |
possibly damaging |
Het |
| Krt4 |
A |
G |
15: 101,831,229 (GRCm39) |
M224T |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,291,631 (GRCm39) |
S3516N |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,295,387 (GRCm39) |
|
probably null |
Het |
| Nptx1 |
G |
T |
11: 119,435,547 (GRCm39) |
C256* |
probably null |
Het |
| Nr1d1 |
T |
C |
11: 98,662,840 (GRCm39) |
Y51C |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,869 (GRCm39) |
R136Q |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,572,461 (GRCm39) |
D363G |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,825,345 (GRCm39) |
H432Q |
possibly damaging |
Het |
| Prkag1 |
A |
G |
15: 98,712,404 (GRCm39) |
F143L |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,272,478 (GRCm39) |
K72R |
possibly damaging |
Het |
| Pvrig-ps |
A |
G |
5: 138,340,312 (GRCm39) |
T28A |
probably benign |
Het |
| Rhod |
C |
T |
19: 4,476,133 (GRCm39) |
C206Y |
probably benign |
Het |
| Rngtt |
C |
A |
4: 33,320,606 (GRCm39) |
S51* |
probably null |
Het |
| Rreb1 |
T |
G |
13: 38,116,105 (GRCm39) |
S1155A |
probably benign |
Het |
| Scn9a |
A |
C |
2: 66,357,307 (GRCm39) |
I998S |
possibly damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,495,868 (GRCm39) |
F50L |
probably damaging |
Het |
| Six4 |
A |
T |
12: 73,150,247 (GRCm39) |
V766D |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,206,135 (GRCm39) |
I421T |
probably damaging |
Het |
| Son |
T |
A |
16: 91,455,054 (GRCm39) |
M1267K |
probably benign |
Het |
| Styk1 |
T |
A |
6: 131,287,027 (GRCm39) |
D156V |
possibly damaging |
Het |
| Supt3 |
A |
G |
17: 45,430,030 (GRCm39) |
E361G |
probably benign |
Het |
| Tbx3 |
T |
A |
5: 119,812,256 (GRCm39) |
Y185* |
probably null |
Het |
| Trpm1 |
A |
T |
7: 63,918,252 (GRCm39) |
T531S |
probably benign |
Het |
| Tspan32 |
T |
A |
7: 142,572,479 (GRCm39) |
W172R |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,559,318 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
T |
A |
7: 85,208,276 (GRCm39) |
I734F |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,243,175 (GRCm39) |
T618A |
probably benign |
Het |
| Wac |
T |
A |
18: 7,920,163 (GRCm39) |
V339E |
probably damaging |
Het |
| Wrn |
G |
A |
8: 33,833,024 (GRCm39) |
T156M |
probably damaging |
Het |
| Zeb1 |
T |
A |
18: 5,770,498 (GRCm39) |
C884S |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,214 (GRCm39) |
|
probably benign |
Het |
| Zmpste24 |
A |
G |
4: 120,952,867 (GRCm39) |
V10A |
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 |
|
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 |
|
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'- ACAACCTCACATTGTAACTCTGG -3'
(R):5'- ACTGGTCTACTTGACTACATGATC -3'
Sequencing Primer
(F):5'- TAGAGGACCCATGCATGATTCCTG -3'
(R):5'- GGTCTACTTGACTACATGATCTACAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation