Incidental Mutation 'IGL02117:Marco'
ID 280413
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) question?
Stock # IGL02117
Quality Score
Status
Chromosome 1
Chromosomal Location 120402267-120432753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120418683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 190 (V190A)
Ref Sequence ENSEMBL: ENSMUSP00000027639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027639] [ENSMUST00000186432]
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: V190A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027639
Gene: ENSMUSG00000026390
AA Change: V190A

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
Predicted Effect unknown
Transcript: ENSMUST00000186432
AA Change: V110A
SMART Domains Protein: ENSMUSP00000140948
Gene: ENSMUSG00000026390
AA Change: V110A

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
Pfam:Collagen 68 123 3.7e-10 PFAM
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Marco
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16