Incidental Mutation 'R3983:Msr1'
| ID |
350687 |
| 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 |
040944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3983 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
40034726-40095714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40073059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 164
(V164A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026021]
[ENSMUST00000170091]
[ENSMUST00000210525]
|
| AlphaFold |
P30204 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026021
AA Change: V230A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: V230A
| 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: V230A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044
AA Change: V230A
| 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: V164A
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210681
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,467,220 (GRCm39) |
N138Y |
possibly damaging |
Het |
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,644,713 (GRCm39) |
I821V |
probably benign |
Het |
| Adam34 |
G |
A |
8: 44,103,806 (GRCm39) |
T613I |
probably benign |
Het |
| Ap2b1 |
C |
T |
11: 83,281,542 (GRCm39) |
T816M |
probably damaging |
Het |
| Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,770,539 (GRCm39) |
|
probably benign |
Het |
| Chrna2 |
G |
T |
14: 66,386,906 (GRCm39) |
V351L |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
| Cyp2c50 |
A |
C |
19: 40,101,962 (GRCm39) |
K400T |
possibly damaging |
Het |
| Cyp2c54 |
G |
T |
19: 40,034,699 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Dcpp2 |
T |
A |
17: 24,119,547 (GRCm39) |
Y120* |
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,441,125 (GRCm39) |
R242W |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,272,871 (GRCm39) |
V2333E |
possibly damaging |
Het |
| Duxf4 |
T |
A |
10: 58,071,623 (GRCm39) |
N197I |
possibly damaging |
Het |
| Eno3 |
T |
A |
11: 70,552,237 (GRCm39) |
F296L |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
| Gdap1 |
T |
G |
1: 17,230,131 (GRCm39) |
|
probably benign |
Het |
| Gm1587 |
C |
T |
14: 78,032,283 (GRCm39) |
E118K |
unknown |
Het |
| Gprin3 |
T |
C |
6: 59,331,545 (GRCm39) |
E254G |
possibly damaging |
Het |
| Hcrt |
G |
A |
11: 100,652,679 (GRCm39) |
R112C |
probably damaging |
Het |
| Hoxa4 |
A |
T |
6: 52,167,657 (GRCm39) |
Y175N |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,118,957 (GRCm39) |
G504R |
probably damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,485,823 (GRCm39) |
R325G |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,559,042 (GRCm39) |
P1522L |
possibly damaging |
Het |
| Kmt2d |
T |
G |
15: 98,743,927 (GRCm39) |
|
probably benign |
Het |
| Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,337,996 (GRCm39) |
V646A |
probably damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,965,714 (GRCm39) |
K1175N |
probably benign |
Het |
| Myo1c |
T |
A |
11: 75,552,325 (GRCm39) |
L366Q |
probably benign |
Het |
| Or12d15 |
T |
C |
17: 37,694,289 (GRCm39) |
V277A |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,376,961 (GRCm39) |
S230P |
possibly damaging |
Het |
| Or6f1 |
A |
G |
7: 85,970,942 (GRCm39) |
Y73H |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,876,940 (GRCm39) |
T29A |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,692,405 (GRCm39) |
E563G |
possibly damaging |
Het |
| Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
| Rnf44 |
A |
C |
13: 54,830,961 (GRCm39) |
S98R |
probably damaging |
Het |
| Samhd1 |
C |
A |
2: 156,965,369 (GRCm39) |
V149L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,238,644 (GRCm39) |
N214K |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,591 (GRCm39) |
N813S |
probably benign |
Het |
| Sirt3 |
A |
T |
7: 140,458,025 (GRCm39) |
C41* |
probably null |
Het |
| Speg |
C |
A |
1: 75,399,191 (GRCm39) |
P2213T |
probably benign |
Het |
| Srcin1 |
T |
G |
11: 97,416,379 (GRCm39) |
E951A |
probably damaging |
Het |
| Syn2 |
C |
G |
6: 115,214,259 (GRCm39) |
T161S |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,649 (GRCm39) |
T326A |
probably benign |
Het |
| Tcstv2a |
G |
T |
13: 120,725,815 (GRCm39) |
A160S |
possibly damaging |
Het |
| Tes |
T |
A |
6: 17,099,700 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,553,030 (GRCm39) |
T354A |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,632,705 (GRCm39) |
S12370R |
possibly damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,758 (GRCm39) |
T91A |
probably benign |
Het |
| Vmn1r181 |
C |
T |
7: 23,684,234 (GRCm39) |
T233I |
probably benign |
Het |
| Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly damaging |
Het |
| Zfp740 |
G |
T |
15: 102,116,678 (GRCm39) |
C56F |
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 |
|
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'- CACATCTCATTTCCGGGACAAG -3'
(R):5'- TACCAGACAGAGGCAGTAAATCTC -3'
Sequencing Primer
(F):5'- CCGGGACAAGATATTTTACCTTG -3'
(R):5'- CTCAGGGATGACAATTATATCAGGTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation