Incidental Mutation 'IGL03293:Marco'
ID415977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Marco
Ensembl Gene ENSMUSG00000026390
Gene Namemacrophage receptor with collagenous structure
SynonymsScara2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL03293
Quality Score
Status
Chromosome1
Chromosomal Location120474538-120505024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120494795 bp
ZygosityHeterozygous
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]
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
9230019H11Rik A G 10: 3,125,699 noncoding transcript Het
A830018L16Rik T A 1: 11,545,151 probably null Het
Akr1c14 C T 13: 4,079,130 R45* probably null Het
Ccdc62 T A 5: 123,951,225 L309I possibly damaging Het
Ccdc66 T A 14: 27,490,671 N565I probably damaging Het
Cerkl G T 2: 79,342,375 A318E probably damaging Het
Clec4n A T 6: 123,232,146 T57S probably benign Het
Cluh A G 11: 74,665,752 E921G probably benign Het
Cnbd1 C T 4: 18,860,565 E394K possibly damaging Het
Dmgdh G T 13: 93,706,701 M348I probably benign Het
Dnajc13 G A 9: 104,174,426 S1744L possibly damaging Het
Dspp A T 5: 104,177,561 S597C unknown Het
Dync1h1 A T 12: 110,628,734 N1360I probably benign Het
Eepd1 A G 9: 25,603,412 H505R possibly damaging Het
Gcnt7 T C 2: 172,454,383 T174A possibly damaging Het
Gnb1 T C 4: 155,540,547 probably benign Het
Gpam A G 19: 55,071,016 S800P probably benign Het
Gsr T C 8: 33,694,996 probably benign Het
Herc2 A G 7: 56,155,130 K2302R probably benign Het
Hipk1 C A 3: 103,777,259 A347S possibly damaging Het
Iqgap2 T C 13: 95,731,434 N222S probably damaging Het
Morc2b A T 17: 33,138,363 V145D probably damaging Het
Mprip C A 11: 59,696,163 P54Q probably damaging Het
Ndufv2 A T 17: 66,083,449 C175* probably null Het
Olfr1181 T C 2: 88,423,227 D266G probably damaging Het
Olfr272 A G 4: 52,910,835 *320Q probably null Het
Orc3 A C 4: 34,595,210 I195S probably damaging Het
Otos C A 1: 92,644,413 E64* probably null Het
Plxna2 T C 1: 194,804,945 S1603P probably damaging Het
Rlf A T 4: 121,148,330 I1151N probably benign Het
Scaper A G 9: 55,874,823 V283A probably benign Het
Sdccag3 A T 2: 26,387,676 probably benign Het
Slc25a43 A G X: 36,775,599 T270A probably benign Het
Slc35a5 A G 16: 45,143,781 V78A probably damaging Het
Smurf1 A T 5: 144,881,799 D636E probably benign Het
Tchhl1 A T 3: 93,470,275 E95D probably damaging Het
Tcp10a A G 17: 7,326,492 E72G possibly damaging Het
Tmem232 A G 17: 65,450,374 S275P probably damaging Het
Ugt1a5 T C 1: 88,166,818 F256S probably damaging Het
Vmn2r5 A G 3: 64,491,326 V744A probably benign Het
Vmn2r53 A T 7: 12,598,422 S433R probably benign Het
Vmn2r9 A T 5: 108,848,131 I217N probably damaging Het
Wdr83 G T 8: 85,080,587 A10E probably benign 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
P0027:Marco UTSW 1 120474712 missense probably damaging 1.00
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 On2016-08-02