Incidental Mutation 'IGL00093:Marco'
ID1962
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: 0.066) question?
Stock #IGL00093
Quality Score
Status
Chromosome1
Chromosomal Location120474538-120505024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120485703 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 295 (V295A)
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 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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,653,560 D60G probably damaging Het
9230110C19Rik A G 9: 8,022,432 V263A probably benign Het
Abca2 T A 2: 25,445,963 probably null Het
Adamts14 C T 10: 61,229,676 R348H probably damaging Het
Aimp2 A T 5: 143,906,706 I22N probably damaging Het
Cacna1c A G 6: 118,676,444 probably benign Het
Cfap221 A T 1: 119,932,845 Y684N possibly damaging Het
Cldn6 T A 17: 23,681,724 probably benign Het
Copb2 A G 9: 98,568,077 M30V probably benign Het
Cyhr1 A G 15: 76,646,538 I194T probably damaging Het
Dcaf17 G A 2: 71,078,159 E243K probably benign Het
Dhx35 T C 2: 158,827,916 Y257H probably damaging Het
Dzank1 A T 2: 144,481,725 Y600* probably null Het
Fam208a T G 14: 27,448,206 L364R probably damaging Het
Flvcr1 T A 1: 191,015,489 R201* probably null Het
Fstl4 G A 11: 53,186,275 V620I probably benign Het
Gm21976 G A 13: 98,302,561 V20M probably benign Het
Ifi208 T C 1: 173,679,038 probably null Het
Kdm4c T C 4: 74,345,501 V674A probably benign Het
Lig1 T A 7: 13,301,452 Y612* probably null Het
Myo5c T C 9: 75,242,880 probably benign Het
Olfr394 A G 11: 73,888,249 L41P probably damaging Het
Olfr643 T C 7: 104,059,416 Y62C probably damaging Het
Olfr815 T A 10: 129,902,659 D17V possibly damaging Het
Pkd1l1 A G 11: 8,961,971 M245T unknown Het
Pomt1 A G 2: 32,241,772 I158V probably benign Het
Ptpn21 A G 12: 98,680,468 W967R probably damaging Het
Rrp12 A T 19: 41,887,094 M270K possibly damaging Het
Spats2 A G 15: 99,180,593 E179G possibly damaging Het
Tapbp T C 17: 33,919,892 V11A probably benign Het
Tonsl A G 15: 76,638,496 F185S possibly damaging Het
Trpm1 A G 7: 64,243,450 I901V probably damaging Het
Tulp2 A G 7: 45,521,908 N371S probably damaging Het
Unc5d A T 8: 28,719,826 V433D probably damaging Het
Wasf3 G A 5: 146,455,651 R177Q probably damaging Het
Wdr63 C T 3: 146,083,004 G274E probably benign Het
Zfp715 A T 7: 43,299,749 H262Q possibly damaging Het
Other mutations in Marco
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2011-07-12