Incidental Mutation 'IGL00093:Marco'
| ID |
1962 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Marco
|
| Ensembl Gene |
ENSMUSG00000026390 |
| Gene Name |
macrophage receptor with collagenous structure |
| Synonyms |
Scara2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL00093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
120402267-120432753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120413432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 295
(V295A)
|
| 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 benign
Transcript: ENSMUST00000027639
AA Change: V295A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027639
Gene: ENSMUSG00000026390
AA Change: V295A
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
C |
16: 21,472,310 (GRCm39) |
D60G |
probably damaging |
Het |
| Abca2 |
T |
A |
2: 25,335,975 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
C |
T |
10: 61,065,455 (GRCm39) |
R348H |
probably damaging |
Het |
| Aimp2 |
A |
T |
5: 143,843,524 (GRCm39) |
I22N |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,653,405 (GRCm39) |
|
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,860,575 (GRCm39) |
Y684N |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,022,433 (GRCm39) |
V263A |
probably benign |
Het |
| Cldn6 |
T |
A |
17: 23,900,698 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,450,130 (GRCm39) |
M30V |
probably benign |
Het |
| Dcaf17 |
G |
A |
2: 70,908,503 (GRCm39) |
E243K |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,669,836 (GRCm39) |
Y257H |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,788,759 (GRCm39) |
G274E |
probably benign |
Het |
| Dzank1 |
A |
T |
2: 144,323,645 (GRCm39) |
Y600* |
probably null |
Het |
| Flvcr1 |
T |
A |
1: 190,747,686 (GRCm39) |
R201* |
probably null |
Het |
| Fstl4 |
G |
A |
11: 53,077,102 (GRCm39) |
V620I |
probably benign |
Het |
| Gm21976 |
G |
A |
13: 98,439,069 (GRCm39) |
V20M |
probably benign |
Het |
| Ifi208 |
T |
C |
1: 173,506,604 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
T |
C |
4: 74,263,738 (GRCm39) |
V674A |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,035,378 (GRCm39) |
Y612* |
probably null |
Het |
| Myo5c |
T |
C |
9: 75,150,162 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,779,075 (GRCm39) |
L41P |
probably damaging |
Het |
| Or51a42 |
T |
C |
7: 103,708,623 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or6c217 |
T |
A |
10: 129,738,528 (GRCm39) |
D17V |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,911,971 (GRCm39) |
M245T |
unknown |
Het |
| Pomt1 |
A |
G |
2: 32,131,784 (GRCm39) |
I158V |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,646,727 (GRCm39) |
W967R |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,875,533 (GRCm39) |
M270K |
possibly damaging |
Het |
| Spats2 |
A |
G |
15: 99,078,474 (GRCm39) |
E179G |
possibly damaging |
Het |
| Tapbp |
T |
C |
17: 34,138,866 (GRCm39) |
V11A |
probably benign |
Het |
| Tasor |
T |
G |
14: 27,170,163 (GRCm39) |
L364R |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,522,696 (GRCm39) |
F185S |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,893,198 (GRCm39) |
I901V |
probably damaging |
Het |
| Tulp2 |
A |
G |
7: 45,171,332 (GRCm39) |
N371S |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,854 (GRCm39) |
V433D |
probably damaging |
Het |
| Wasf3 |
G |
A |
5: 146,392,461 (GRCm39) |
R177Q |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,173 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,738 (GRCm39) |
I194T |
probably damaging |
Het |
|
| Other mutations in Marco |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
P0027:Marco
|
UTSW |
1 |
120,402,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2011-07-12 |
Incidental Mutation