Incidental Mutation 'P0027:Marco'
| ID |
8232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marco
|
| Ensembl Gene |
ENSMUSG00000026390 |
| Gene Name |
macrophage receptor with collagenous structure |
| Synonyms |
Scara2 |
| MMRRC Submission |
038280-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
P0027 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
120402267-120432753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120402441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 502
(W502R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027639]
|
| AlphaFold |
Q60754 |
| PDB Structure |
Crystal structure analysis of the monomeric SRCR domain of mouse MARCO [X-RAY DIFFRACTION]
Crystal structure analysis of the dimeric form of the SRCR domain of mouse MARCO [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027639
AA Change: W502R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027639
Gene: ENSMUSG00000026390
AA Change: W502R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1g38a_
|
65 |
93 |
1e-2 |
SMART |
|
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
149 |
208 |
2.5e-12 |
PFAM |
|
Pfam:Collagen
|
192 |
266 |
2.7e-10 |
PFAM |
|
low complexity region
|
293 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
345 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
347 |
400 |
5.11e-17 |
PROSPERO |
|
low complexity region
|
401 |
419 |
N/A |
INTRINSIC |
|
SR
|
423 |
518 |
1.66e-48 |
SMART |
|
| Meta Mutation Damage Score |
0.5569 |
| Coding Region Coverage |
- 1x: 82.6%
- 3x: 72.9%
- 10x: 45.3%
- 20x: 23.4%
|
| Validation Efficiency |
93% (53/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show altered spleen marginal zone architecture and impaired IgM responses to a pneumococcal polysaccharide vaccine. Mice homozygous for another null allele show increased susceptibility to bacterial pneumonia and enhanced inflammatory responses to inhaled particles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
| Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
| Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
| Ftsj3 |
C |
A |
11: 106,145,634 (GRCm39) |
M66I |
possibly damaging |
Het |
| Kdm2a |
C |
T |
19: 4,393,273 (GRCm39) |
|
probably benign |
Het |
| Klhl14 |
T |
C |
18: 21,691,192 (GRCm39) |
Y446C |
probably damaging |
Het |
| Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
| Ms4a10 |
T |
C |
19: 10,941,492 (GRCm39) |
D159G |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,901,571 (GRCm39) |
T249I |
possibly damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,883,810 (GRCm39) |
N48I |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
| Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
| Phactr4 |
G |
C |
4: 132,098,401 (GRCm39) |
T252R |
probably damaging |
Het |
| Sec14l2 |
C |
T |
11: 4,053,673 (GRCm39) |
|
probably null |
Het |
| Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
| Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
| Tmem26 |
A |
G |
10: 68,614,548 (GRCm39) |
E321G |
probably benign |
Het |
| Yif1b |
T |
C |
7: 28,938,038 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Marco |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Marco
|
APN |
1 |
120,413,432 (GRCm39) |
missense |
probably benign |
|
|
IGL01343:Marco
|
APN |
1 |
120,422,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02117:Marco
|
APN |
1 |
120,418,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02338:Marco
|
APN |
1 |
120,422,508 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03293:Marco
|
APN |
1 |
120,422,524 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0548:Marco
|
UTSW |
1 |
120,419,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1450:Marco
|
UTSW |
1 |
120,404,474 (GRCm39) |
splice site |
probably benign |
|
|
R1958:Marco
|
UTSW |
1 |
120,412,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Marco
|
UTSW |
1 |
120,422,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Marco
|
UTSW |
1 |
120,422,514 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4740:Marco
|
UTSW |
1 |
120,422,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Marco
|
UTSW |
1 |
120,421,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5393:Marco
|
UTSW |
1 |
120,413,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Marco
|
UTSW |
1 |
120,432,464 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6022:Marco
|
UTSW |
1 |
120,416,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6028:Marco
|
UTSW |
1 |
120,418,671 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6058:Marco
|
UTSW |
1 |
120,404,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Marco
|
UTSW |
1 |
120,402,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Marco
|
UTSW |
1 |
120,421,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8002:Marco
|
UTSW |
1 |
120,422,509 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9157:Marco
|
UTSW |
1 |
120,421,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Marco
|
UTSW |
1 |
120,421,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Marco
|
UTSW |
1 |
120,402,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation