Incidental Mutation 'P0027:Marco'
ID8232
Institutional Source Beutler Lab
Gene Symbol Marco
Ensembl Gene ENSMUSG00000026390
Gene Namemacrophage receptor with collagenous structure
SynonymsScara2
MMRRC Submission 038280-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #P0027 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location120474538-120505024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120474712 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 502 (W502R)
Ref Sequence ENSEMBL: ENSMUSP00000027639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027639]
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicd2 C A 13: 49,379,651 P571Q probably benign Het
Camta2 A G 11: 70,684,005 I75T probably damaging Het
Casp1 A T 9: 5,299,851 H108L probably benign Het
Copa A G 1: 172,111,948 E593G possibly damaging Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Het
Kdm2a C T 19: 4,343,245 probably benign Het
Klhl14 T C 18: 21,558,135 Y446C probably damaging Het
Lims1 A G 10: 58,418,455 N344D probably benign Het
Ms4a10 T C 19: 10,964,128 D159G probably damaging Het
Msi2 A T 11: 88,394,597 M207K probably damaging Het
Myh15 C T 16: 49,081,208 T249I possibly damaging Het
Nap1l5 T A 6: 58,906,825 N48I probably damaging Het
Nup188 A G 2: 30,322,681 D632G probably damaging Het
Olfr354 T C 2: 36,907,570 V208A probably benign Het
Papd7 G A 13: 69,506,955 R224* probably null Het
Phactr4 G C 4: 132,371,090 T252R probably damaging Het
Sec14l2 C T 11: 4,103,673 probably null Het
Sim2 C A 16: 94,109,422 H228N probably benign Het
Tmem26 A G 10: 68,778,718 E321G probably benign Het
Yif1b T C 7: 29,238,613 probably null Het
Other mutations in Marco
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Marco APN 1 120485703 missense probably benign
IGL01343:Marco APN 1 120494740 critical splice donor site probably null
IGL02117:Marco APN 1 120490954 missense probably benign 0.00
IGL02338:Marco APN 1 120494779 missense possibly damaging 0.90
IGL03293:Marco APN 1 120494795 missense probably benign 0.08
R0548:Marco UTSW 1 120492038 missense probably benign 0.00
R1450:Marco UTSW 1 120476745 splice site probably benign
R1958:Marco UTSW 1 120484864 missense probably damaging 1.00
R2444:Marco UTSW 1 120494770 missense probably damaging 1.00
R2568:Marco UTSW 1 120494785 missense possibly damaging 0.86
R4740:Marco UTSW 1 120494770 missense probably damaging 1.00
R4979:Marco UTSW 1 120494225 missense probably benign 0.02
R5393:Marco UTSW 1 120485854 missense probably damaging 1.00
R5536:Marco UTSW 1 120504735 missense possibly damaging 0.85
R6022:Marco UTSW 1 120488565 missense probably benign 0.00
R6028:Marco UTSW 1 120490942 missense probably damaging 0.97
R6058:Marco UTSW 1 120476706 missense probably damaging 1.00
R7565:Marco UTSW 1 120474666 missense probably damaging 1.00
R7682:Marco UTSW 1 120494042 critical splice donor site probably null
R8002:Marco UTSW 1 120494780 missense probably benign 0.18
T0722:Marco UTSW 1 120474712 missense probably damaging 1.00
Posted On2012-11-20