Incidental Mutation 'IGL03293:Marco'
ID 415977
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 # IGL03293
Quality Score
Status
Chromosome 1
Chromosomal Location 120402267-120432753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120422524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 46 (M46L)
Ref Sequence ENSEMBL: ENSMUSP00000140948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027639] [ENSMUST00000186432]
AlphaFold Q60754
Predicted Effect probably benign
Transcript: ENSMUST00000027639
AA Change: M53L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027639
Gene: ENSMUSG00000026390
AA Change: M53L

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 probably benign
Transcript: ENSMUST00000186432
AA Change: M46L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000140948
Gene: ENSMUSG00000026390
AA Change: M46L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,615,375 (GRCm39) probably null Het
Akr1c14 C T 13: 4,129,130 (GRCm39) R45* probably null Het
Ccdc62 T A 5: 124,089,288 (GRCm39) L309I possibly damaging Het
Ccdc66 T A 14: 27,212,628 (GRCm39) N565I probably damaging Het
Cerkl G T 2: 79,172,719 (GRCm39) A318E probably damaging Het
Clec4n A T 6: 123,209,105 (GRCm39) T57S probably benign Het
Cluh A G 11: 74,556,578 (GRCm39) E921G probably benign Het
Cnbd1 C T 4: 18,860,565 (GRCm39) E394K possibly damaging Het
Dmgdh G T 13: 93,843,209 (GRCm39) M348I probably benign Het
Dnajc13 G A 9: 104,051,625 (GRCm39) S1744L possibly damaging Het
Dspp A T 5: 104,325,427 (GRCm39) S597C unknown Het
Dync1h1 A T 12: 110,595,168 (GRCm39) N1360I probably benign Het
Eepd1 A G 9: 25,514,708 (GRCm39) H505R possibly damaging Het
Entr1 A T 2: 26,277,688 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,303 (GRCm39) T174A possibly damaging Het
Gnb1 T C 4: 155,625,004 (GRCm39) probably benign Het
Gpam A G 19: 55,059,448 (GRCm39) S800P probably benign Het
Gsr T C 8: 34,185,024 (GRCm39) probably benign Het
Herc2 A G 7: 55,804,878 (GRCm39) K2302R probably benign Het
Hipk1 C A 3: 103,684,575 (GRCm39) A347S possibly damaging Het
Iqgap2 T C 13: 95,867,942 (GRCm39) N222S probably damaging Het
Morc2b A T 17: 33,357,337 (GRCm39) V145D probably damaging Het
Mprip C A 11: 59,586,989 (GRCm39) P54Q probably damaging Het
Ndufv2 A T 17: 66,390,444 (GRCm39) C175* probably null Het
Or13c25 A G 4: 52,910,835 (GRCm39) *320Q probably null Het
Or4p20 T C 2: 88,253,571 (GRCm39) D266G probably damaging Het
Orc3 A C 4: 34,595,210 (GRCm39) I195S probably damaging Het
Otos C A 1: 92,572,135 (GRCm39) E64* probably null Het
Plxna2 T C 1: 194,487,253 (GRCm39) S1603P probably damaging Het
Rlf A T 4: 121,005,527 (GRCm39) I1151N probably benign Het
Scaper A G 9: 55,782,107 (GRCm39) V283A probably benign Het
Slc25a43 A G X: 36,039,252 (GRCm39) T270A probably benign Het
Slc35a5 A G 16: 44,964,144 (GRCm39) V78A probably damaging Het
Smurf1 A T 5: 144,818,609 (GRCm39) D636E probably benign Het
Tchhl1 A T 3: 93,377,582 (GRCm39) E95D probably damaging Het
Tcp10a A G 17: 7,593,891 (GRCm39) E72G possibly damaging Het
Tmem232 A G 17: 65,757,369 (GRCm39) S275P probably damaging Het
Ugt1a5 T C 1: 88,094,540 (GRCm39) F256S probably damaging Het
Ulbp3 A G 10: 3,075,699 (GRCm39) noncoding transcript Het
Vmn2r5 A G 3: 64,398,747 (GRCm39) V744A probably benign Het
Vmn2r53 A T 7: 12,332,349 (GRCm39) S433R probably benign Het
Vmn2r9 A T 5: 108,995,997 (GRCm39) I217N probably damaging Het
Wdr83 G T 8: 85,807,216 (GRCm39) A10E 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
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
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 2016-08-02