Incidental Mutation 'R9707:Msr1'
| ID |
729849 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R9707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
40034726-40095714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 40076988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 207
(E207D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026021]
[ENSMUST00000170091]
[ENSMUST00000210525]
|
| AlphaFold |
P30204 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026021
AA Change: E207D
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: E207D
| 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 benign
Transcript: ENSMUST00000170091
AA Change: E207D
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044
AA Change: E207D
| 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 |
possibly damaging
Transcript: ENSMUST00000210525
AA Change: E141D
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
G |
A |
2: 91,640,476 (GRCm39) |
R635H |
probably damaging |
Het |
| Amz1 |
T |
C |
5: 140,733,949 (GRCm39) |
V175A |
possibly damaging |
Het |
| Arsj |
T |
C |
3: 126,232,160 (GRCm39) |
I302T |
possibly damaging |
Het |
| Asxl3 |
A |
G |
18: 22,656,304 (GRCm39) |
E1438G |
probably benign |
Het |
| BC016579 |
C |
T |
16: 45,460,760 (GRCm39) |
E103K |
probably damaging |
Het |
| Ccdc54 |
T |
A |
16: 50,411,163 (GRCm39) |
K34N |
possibly damaging |
Het |
| Chac2 |
T |
C |
11: 30,929,572 (GRCm39) |
D55G |
possibly damaging |
Het |
| Cts3 |
T |
A |
13: 61,714,649 (GRCm39) |
I219F |
possibly damaging |
Het |
| Des |
A |
G |
1: 75,337,533 (GRCm39) |
M158V |
possibly damaging |
Het |
| Dohh |
T |
C |
10: 81,223,565 (GRCm39) |
F206S |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,228,934 (GRCm39) |
S2176P |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,824,816 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
G |
A |
10: 25,378,235 (GRCm39) |
V836M |
probably damaging |
Het |
| Foxc1 |
A |
T |
13: 31,991,882 (GRCm39) |
E231V |
probably damaging |
Het |
| Ighd |
T |
A |
12: 113,378,108 (GRCm39) |
N164Y |
|
Het |
| Ighv1-53 |
A |
T |
12: 115,122,035 (GRCm39) |
Y113* |
probably null |
Het |
| Ildr1 |
A |
G |
16: 36,529,892 (GRCm39) |
D93G |
probably damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,408,414 (GRCm39) |
E1754G |
probably benign |
Het |
| Mbd4 |
T |
A |
6: 115,826,559 (GRCm39) |
H144L |
probably benign |
Het |
| Mcm7 |
C |
A |
5: 138,170,000 (GRCm39) |
A7S |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,794,605 (GRCm39) |
N532K |
possibly damaging |
Het |
| Neurl4 |
A |
T |
11: 69,799,679 (GRCm39) |
D994V |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,090 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or6c69b |
T |
C |
10: 129,627,444 (GRCm39) |
T5A |
probably damaging |
Het |
| Or8s5 |
C |
T |
15: 98,238,154 (GRCm39) |
V239I |
probably benign |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,768 (GRCm39) |
I492T |
possibly damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,701 (GRCm39) |
D669G |
probably benign |
Het |
| Phf3 |
C |
A |
1: 30,868,923 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
T |
A |
5: 21,207,620 (GRCm39) |
T279S |
probably damaging |
Het |
| Rbbp6 |
A |
T |
7: 122,589,061 (GRCm39) |
T287S |
probably damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,851,186 (GRCm39) |
N192S |
probably benign |
Het |
| Slc46a3 |
G |
T |
5: 147,821,022 (GRCm39) |
H377N |
probably benign |
Het |
| Smg9 |
G |
T |
7: 24,102,869 (GRCm39) |
R16L |
probably damaging |
Het |
| Spmip2 |
A |
G |
3: 79,313,167 (GRCm39) |
I80M |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,758,300 (GRCm39) |
V848A |
possibly damaging |
Het |
| Taf7 |
A |
T |
18: 37,776,053 (GRCm39) |
S171R |
probably damaging |
Het |
| Trav7-3 |
A |
G |
14: 53,681,189 (GRCm39) |
E77G |
probably benign |
Het |
| Usp16 |
T |
C |
16: 87,263,235 (GRCm39) |
S146P |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,890 (GRCm39) |
I29K |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,664,328 (GRCm39) |
C486R |
probably damaging |
Het |
| Zfp329 |
T |
C |
7: 12,544,129 (GRCm39) |
Q465R |
probably benign |
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 |
|
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 |
|
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'- TCCAGGCCTCACTTCAGA -3'
(R):5'- TGGCAACTGACCAAAGACTTAAT -3'
Sequencing Primer
(F):5'- ACACTAATTGGTTGTCCGATGC -3'
(R):5'- CAAGTCCTTGCAGAGTCT -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation