Incidental Mutation 'R0505:Mrc1'
ID 47430
Institutional Source Beutler Lab
Gene Symbol Mrc1
Ensembl Gene ENSMUSG00000026712
Gene Name mannose receptor, C type 1
Synonyms CD206, MR
MMRRC Submission 038700-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0505 (G1)
Quality Score 189
Status Validated
Chromosome 2
Chromosomal Location 14234225-14336834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14314843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 976 (C976Y)
Ref Sequence ENSEMBL: ENSMUSP00000028045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028045]
AlphaFold Q61830
PDB Structure CRYSTAL STRUCTURE OF THE CYSTEINE RICH DOMAIN OF MANNOSE RECEPTOR [X-RAY DIFFRACTION]
Crystal structure of the cysteine rich domain of mannose receptor complexed with Acetylgalactosamine-4-sulfate [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MANNOSE RECEPTOR COMPLEXED WITH 3-SO4-LEWIS(X) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MANNOSE RECEPTOR COMPLEXED WITH 3-SO4-LEWIS(A) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028045
AA Change: C976Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028045
Gene: ENSMUSG00000026712
AA Change: C976Y

DomainStartEndE-ValueType
RICIN 22 142 8.09e-18 SMART
FN2 161 209 1.83e-27 SMART
CLECT 216 341 8.87e-26 SMART
CLECT 362 487 3.51e-38 SMART
CLECT 504 626 8.2e-30 SMART
CLECT 646 778 2.34e-34 SMART
CLECT 800 923 2.17e-29 SMART
low complexity region 935 941 N/A INTRINSIC
CLECT 944 1079 3.35e-35 SMART
CLECT 1094 1212 4.11e-21 SMART
CLECT 1229 1355 3.63e-31 SMART
transmembrane domain 1388 1410 N/A INTRINSIC
Meta Mutation Damage Score 0.9277 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (119/121)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]
PHENOTYPE: Male homozygotes for one targeted null mutation die in utero. Heterozygous females clear lutropin from the circulation more slowly and have smaller litters due to reduced implantation. Another targeted knockout is viable and homozygotes are less susceptible to parasitic infection. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,241,058 (GRCm39) Y974H probably benign Het
Abca2 G T 2: 25,324,906 (GRCm39) G300V probably benign Het
Abi1 A G 2: 22,852,516 (GRCm39) probably benign Het
Actr10 T A 12: 71,006,738 (GRCm39) Y332N probably damaging Het
Adam25 G T 8: 41,208,261 (GRCm39) C509F probably damaging Het
Adck1 A T 12: 88,338,461 (GRCm39) probably benign Het
Adgra3 A G 5: 50,166,676 (GRCm39) probably null Het
Adgrl1 G T 8: 84,661,279 (GRCm39) probably benign Het
Akr1c21 A G 13: 4,626,306 (GRCm39) Y110C probably damaging Het
Arhgef25 T C 10: 127,019,566 (GRCm39) I463V probably null Het
Atp6v1e2 C T 17: 87,252,006 (GRCm39) V131M probably benign Het
Bdnf A G 2: 109,505,688 (GRCm39) probably null Het
Bltp3b T C 10: 89,627,305 (GRCm39) S145P probably damaging Het
C7 A T 15: 5,023,624 (GRCm39) probably benign Het
Cdc27 T C 11: 104,419,114 (GRCm39) T273A probably benign Het
Cdo1 T A 18: 46,848,678 (GRCm39) I187F probably benign Het
Cep104 A T 4: 154,080,761 (GRCm39) T742S probably benign Het
Ckm A T 7: 19,153,377 (GRCm39) K223* probably null Het
Cmtr1 C T 17: 29,895,259 (GRCm39) P586L probably benign Het
Csmd1 C T 8: 16,042,758 (GRCm39) R2325Q probably damaging Het
Dcpp1 A T 17: 24,101,568 (GRCm39) I106L possibly damaging Het
Diaph3 A C 14: 87,328,400 (GRCm39) probably benign Het
Dnah11 A G 12: 118,070,245 (GRCm39) V1520A probably damaging Het
Dnajc25 T A 4: 59,020,438 (GRCm39) M168K Het
Dpp3 T C 19: 4,964,682 (GRCm39) N542D probably damaging Het
Ebf2 A T 14: 67,609,185 (GRCm39) K199* probably null Het
Eeig2 T C 3: 108,887,520 (GRCm39) E248G probably benign Het
Efcab11 T A 12: 99,685,294 (GRCm39) Q160L probably benign Het
Eif2ak4 T A 2: 118,261,517 (GRCm39) S686T probably benign Het
Epha6 C T 16: 60,026,095 (GRCm39) S449N possibly damaging Het
Ercc4 T C 16: 12,944,331 (GRCm39) V329A probably benign Het
Faf1 T C 4: 109,697,600 (GRCm39) F309L possibly damaging Het
G6pd2 C A 5: 61,966,910 (GRCm39) D228E probably benign Het
Ggt1 T G 10: 75,421,791 (GRCm39) V546G probably damaging Het
Gpatch4 G T 3: 87,958,524 (GRCm39) V3F probably damaging Het
Gprin3 A G 6: 59,330,372 (GRCm39) L645P probably damaging Het
Hyal2 A G 9: 107,449,270 (GRCm39) Y342C probably benign Het
Igf2bp2 A G 16: 21,907,849 (GRCm39) I16T possibly damaging Het
Inca1 T C 11: 70,581,025 (GRCm39) Y61C probably damaging Het
Ipo5 T C 14: 121,180,145 (GRCm39) W860R possibly damaging Het
Kcnj9 C T 1: 172,150,591 (GRCm39) A341T probably benign Het
Kdm5b T C 1: 134,530,309 (GRCm39) V440A probably damaging Het
L3mbtl1 C T 2: 162,789,255 (GRCm39) probably benign Het
Lin54 G A 5: 100,600,152 (GRCm39) T307I probably damaging Het
Lrrc18 C A 14: 32,731,096 (GRCm39) Q212K probably benign Het
Lrrc37a A G 11: 103,393,851 (GRCm39) S525P probably benign Het
Lrrc71 T A 3: 87,653,006 (GRCm39) S137C probably damaging Het
Lrrk1 A T 7: 65,940,656 (GRCm39) probably null Het
Man2b2 G A 5: 36,973,542 (GRCm39) S58L probably benign Het
Masp1 T A 16: 23,276,888 (GRCm39) H539L probably benign Het
Med1 G A 11: 98,047,730 (GRCm39) P1022L probably damaging Het
Meis1 T A 11: 18,961,360 (GRCm39) H171L probably damaging Het
Mier1 T A 4: 103,012,820 (GRCm39) probably benign Het
Mmp13 A T 9: 7,272,929 (GRCm39) R96S probably damaging Het
Mms19 G A 19: 41,942,173 (GRCm39) T38I probably damaging Het
Mrtfb C T 16: 13,230,390 (GRCm39) T1025I possibly damaging Het
Naalad2 A G 9: 18,297,191 (GRCm39) Y32H probably benign Het
Ndufs1 A G 1: 63,183,085 (GRCm39) probably benign Het
Nefm C T 14: 68,361,608 (GRCm39) D219N probably damaging Het
Nwd1 C T 8: 73,388,965 (GRCm39) P172L probably damaging Het
Nwd2 T A 5: 63,962,454 (GRCm39) D679E probably damaging Het
Ogdh T A 11: 6,289,936 (GRCm39) probably benign Het
Olfm3 T A 3: 114,916,330 (GRCm39) S421T possibly damaging Het
Opn5 T G 17: 42,903,844 (GRCm39) T164P possibly damaging Het
Or4k37 A T 2: 111,159,673 (GRCm39) N303I probably benign Het
Or51a25 T A 7: 102,373,236 (GRCm39) I154F probably damaging Het
Or52a24 T C 7: 103,381,583 (GRCm39) V150A probably benign Het
Or5ak20 A G 2: 85,184,093 (GRCm39) M59T possibly damaging Het
Or5b12b T C 19: 12,861,443 (GRCm39) L66P probably damaging Het
Or5b12b A G 19: 12,861,910 (GRCm39) T222A probably damaging Het
Pde7b C T 10: 20,314,492 (GRCm39) V166M probably damaging Het
Peds1 A T 2: 167,486,907 (GRCm39) probably benign Het
Pik3ap1 T C 19: 41,313,003 (GRCm39) N370S probably damaging Het
Pkhd1l1 A T 15: 44,452,814 (GRCm39) D3913V probably damaging Het
Pld1 A G 3: 28,174,971 (GRCm39) I90V possibly damaging Het
Plxna2 A G 1: 194,326,656 (GRCm39) T197A possibly damaging Het
Plxna4 A T 6: 32,179,054 (GRCm39) M987K probably benign Het
Pmch A G 10: 87,927,221 (GRCm39) N75D probably benign Het
Prom2 T A 2: 127,374,787 (GRCm39) Q583L possibly damaging Het
Pyroxd1 T A 6: 142,299,288 (GRCm39) M148K possibly damaging Het
R3hdm2 C T 10: 127,293,569 (GRCm39) L158F probably damaging Het
Rapgef6 A T 11: 54,516,789 (GRCm39) T349S probably benign Het
Rfx5 C T 3: 94,863,666 (GRCm39) T105I probably damaging Het
Rif1 C A 2: 52,000,749 (GRCm39) P1401Q probably damaging Het
Robo3 G A 9: 37,328,055 (GRCm39) probably benign Het
Rpn1 T A 6: 88,067,224 (GRCm39) S195T probably benign Het
Rslcan18 C A 13: 67,250,183 (GRCm39) K17N probably benign Het
Rsph3b A T 17: 7,209,126 (GRCm39) I48N probably damaging Het
Sbf2 A T 7: 109,998,550 (GRCm39) Y628N probably damaging Het
Sis T C 3: 72,867,629 (GRCm39) T139A probably benign Het
Slc22a14 A G 9: 119,001,100 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Smarcb1 T C 10: 75,732,900 (GRCm39) T372A probably damaging Het
Spidr T A 16: 15,855,531 (GRCm39) H328L probably damaging Het
Sun5 T A 2: 153,712,872 (GRCm39) D16V probably damaging Het
Syde2 G A 3: 145,720,135 (GRCm39) E1053K possibly damaging Het
Syne2 T C 12: 76,146,238 (GRCm39) S6419P probably damaging Het
Tenm3 G A 8: 48,794,195 (GRCm39) probably benign Het
Timm44 C A 8: 4,310,532 (GRCm39) E407* probably null Het
Tnpo2 A G 8: 85,773,991 (GRCm39) T342A probably benign Het
Trio A G 15: 27,767,993 (GRCm39) C1964R probably benign Het
Trip11 A C 12: 101,851,931 (GRCm39) L711R probably damaging Het
Trp53bp1 A T 2: 121,100,450 (GRCm39) H101Q probably damaging Het
Trpm6 A G 19: 18,851,266 (GRCm39) probably benign Het
Ttn A T 2: 76,680,335 (GRCm39) probably benign Het
Ucp1 T A 8: 84,021,936 (GRCm39) M256K possibly damaging Het
Unc5a T A 13: 55,152,767 (GRCm39) S838T probably damaging Het
Uxs1 T C 1: 43,804,046 (GRCm39) probably null Het
Vmn2r108 A T 17: 20,683,096 (GRCm39) C703S possibly damaging Het
Zc3hav1 C T 6: 38,309,599 (GRCm39) G408R probably damaging Het
Zfp1004 T A 2: 150,035,000 (GRCm39) C471* probably null Het
Zfp609 G A 9: 65,610,744 (GRCm39) L740F possibly damaging Het
Zfp69 T C 4: 120,788,292 (GRCm39) E341G probably damaging Het
Zfp707 A T 15: 75,847,105 (GRCm39) H312L probably damaging Het
Zfp773 T C 7: 7,136,023 (GRCm39) D191G probably benign Het
Zgrf1 C A 3: 127,366,887 (GRCm39) D755E probably benign Het
Zscan5b T A 7: 6,242,074 (GRCm39) I431N probably damaging Het
Other mutations in Mrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Mrc1 APN 2 14,333,236 (GRCm39) missense probably damaging 1.00
IGL01326:Mrc1 APN 2 14,271,335 (GRCm39) missense probably damaging 1.00
IGL01340:Mrc1 APN 2 14,314,895 (GRCm39) critical splice donor site probably null
IGL01758:Mrc1 APN 2 14,243,059 (GRCm39) missense probably damaging 1.00
IGL01799:Mrc1 APN 2 14,243,187 (GRCm39) missense probably damaging 1.00
IGL02280:Mrc1 APN 2 14,249,024 (GRCm39) missense probably benign 0.19
IGL02435:Mrc1 APN 2 14,253,671 (GRCm39) nonsense probably null
IGL03073:Mrc1 APN 2 14,310,153 (GRCm39) missense probably damaging 1.00
IGL03110:Mrc1 APN 2 14,298,289 (GRCm39) nonsense probably null
IGL03155:Mrc1 APN 2 14,335,912 (GRCm39) missense probably benign 0.00
IGL03289:Mrc1 APN 2 14,313,634 (GRCm39) critical splice donor site probably null
amlodipine UTSW 2 14,275,016 (GRCm39) missense probably damaging 1.00
losartan UTSW 2 14,299,597 (GRCm39) splice site probably null
Shug UTSW 2 14,275,017 (GRCm39) missense probably damaging 1.00
sussigkeit UTSW 2 14,330,192 (GRCm39) splice site probably null
R0011:Mrc1 UTSW 2 14,266,148 (GRCm39) critical splice donor site probably null
R0011:Mrc1 UTSW 2 14,266,148 (GRCm39) critical splice donor site probably null
R0066:Mrc1 UTSW 2 14,266,011 (GRCm39) missense probably benign 0.42
R0066:Mrc1 UTSW 2 14,266,011 (GRCm39) missense probably benign 0.42
R0110:Mrc1 UTSW 2 14,243,353 (GRCm39) splice site probably benign
R0234:Mrc1 UTSW 2 14,284,705 (GRCm39) missense possibly damaging 0.65
R0234:Mrc1 UTSW 2 14,284,705 (GRCm39) missense possibly damaging 0.65
R0381:Mrc1 UTSW 2 14,312,720 (GRCm39) missense probably benign 0.05
R0539:Mrc1 UTSW 2 14,274,937 (GRCm39) splice site probably benign
R0613:Mrc1 UTSW 2 14,299,630 (GRCm39) missense probably damaging 0.96
R0626:Mrc1 UTSW 2 14,333,382 (GRCm39) nonsense probably null
R1122:Mrc1 UTSW 2 14,266,147 (GRCm39) critical splice donor site probably null
R1281:Mrc1 UTSW 2 14,298,321 (GRCm39) missense probably damaging 1.00
R1399:Mrc1 UTSW 2 14,284,736 (GRCm39) missense probably damaging 1.00
R1428:Mrc1 UTSW 2 14,320,074 (GRCm39) missense probably benign 0.11
R1571:Mrc1 UTSW 2 14,313,544 (GRCm39) missense probably damaging 0.97
R1596:Mrc1 UTSW 2 14,253,701 (GRCm39) missense possibly damaging 0.91
R1730:Mrc1 UTSW 2 14,332,655 (GRCm39) missense probably benign 0.01
R1733:Mrc1 UTSW 2 14,261,910 (GRCm39) missense probably damaging 1.00
R1783:Mrc1 UTSW 2 14,332,655 (GRCm39) missense probably benign 0.01
R1860:Mrc1 UTSW 2 14,333,390 (GRCm39) missense probably benign 0.30
R1872:Mrc1 UTSW 2 14,330,192 (GRCm39) splice site probably null
R1889:Mrc1 UTSW 2 14,313,488 (GRCm39) critical splice acceptor site probably null
R1938:Mrc1 UTSW 2 14,324,052 (GRCm39) missense possibly damaging 0.89
R1971:Mrc1 UTSW 2 14,249,103 (GRCm39) critical splice donor site probably null
R2031:Mrc1 UTSW 2 14,326,584 (GRCm39) missense probably damaging 1.00
R2136:Mrc1 UTSW 2 14,275,000 (GRCm39) missense probably damaging 1.00
R2152:Mrc1 UTSW 2 14,332,675 (GRCm39) missense probably damaging 1.00
R2168:Mrc1 UTSW 2 14,249,015 (GRCm39) missense possibly damaging 0.90
R2273:Mrc1 UTSW 2 14,330,183 (GRCm39) missense probably damaging 1.00
R2901:Mrc1 UTSW 2 14,333,354 (GRCm39) missense possibly damaging 0.94
R3767:Mrc1 UTSW 2 14,323,981 (GRCm39) missense probably damaging 1.00
R3795:Mrc1 UTSW 2 14,293,793 (GRCm39) splice site probably benign
R4028:Mrc1 UTSW 2 14,243,059 (GRCm39) missense probably damaging 1.00
R4668:Mrc1 UTSW 2 14,298,297 (GRCm39) missense probably damaging 1.00
R4828:Mrc1 UTSW 2 14,275,017 (GRCm39) missense probably damaging 1.00
R4897:Mrc1 UTSW 2 14,323,952 (GRCm39) missense probably benign 0.01
R4950:Mrc1 UTSW 2 14,276,091 (GRCm39) missense probably damaging 1.00
R5000:Mrc1 UTSW 2 14,249,000 (GRCm39) missense probably damaging 1.00
R5068:Mrc1 UTSW 2 14,311,327 (GRCm39) missense probably benign 0.00
R5279:Mrc1 UTSW 2 14,314,869 (GRCm39) missense probably damaging 0.99
R5366:Mrc1 UTSW 2 14,326,725 (GRCm39) missense probably benign 0.03
R5436:Mrc1 UTSW 2 14,271,326 (GRCm39) missense probably damaging 1.00
R5552:Mrc1 UTSW 2 14,284,768 (GRCm39) missense probably benign 0.05
R5631:Mrc1 UTSW 2 14,333,383 (GRCm39) nonsense probably null
R5831:Mrc1 UTSW 2 14,313,523 (GRCm39) missense probably damaging 0.99
R5978:Mrc1 UTSW 2 14,320,204 (GRCm39) missense probably damaging 0.97
R5993:Mrc1 UTSW 2 14,310,138 (GRCm39) missense probably damaging 1.00
R6030:Mrc1 UTSW 2 14,321,712 (GRCm39) missense probably benign 0.04
R6030:Mrc1 UTSW 2 14,321,712 (GRCm39) missense probably benign 0.04
R6038:Mrc1 UTSW 2 14,261,882 (GRCm39) missense probably damaging 1.00
R6038:Mrc1 UTSW 2 14,261,882 (GRCm39) missense probably damaging 1.00
R6228:Mrc1 UTSW 2 14,276,115 (GRCm39) missense probably benign 0.08
R6344:Mrc1 UTSW 2 14,248,985 (GRCm39) missense probably damaging 1.00
R6457:Mrc1 UTSW 2 14,275,016 (GRCm39) missense probably damaging 1.00
R6520:Mrc1 UTSW 2 14,312,760 (GRCm39) missense probably damaging 1.00
R6619:Mrc1 UTSW 2 14,299,597 (GRCm39) splice site probably null
R6631:Mrc1 UTSW 2 14,243,296 (GRCm39) missense probably benign
R6737:Mrc1 UTSW 2 14,276,088 (GRCm39) missense possibly damaging 0.95
R6782:Mrc1 UTSW 2 14,266,148 (GRCm39) critical splice donor site probably null
R6887:Mrc1 UTSW 2 14,330,048 (GRCm39) missense possibly damaging 0.94
R7108:Mrc1 UTSW 2 14,308,957 (GRCm39) nonsense probably null
R7120:Mrc1 UTSW 2 14,313,508 (GRCm39) missense probably damaging 0.97
R7460:Mrc1 UTSW 2 14,253,680 (GRCm39) missense probably damaging 1.00
R7567:Mrc1 UTSW 2 14,330,104 (GRCm39) missense probably damaging 1.00
R7606:Mrc1 UTSW 2 14,242,955 (GRCm39) missense probably damaging 1.00
R7725:Mrc1 UTSW 2 14,284,788 (GRCm39) missense probably benign 0.03
R7826:Mrc1 UTSW 2 14,299,668 (GRCm39) missense probably damaging 1.00
R8082:Mrc1 UTSW 2 14,253,771 (GRCm39) missense probably benign
R8279:Mrc1 UTSW 2 14,271,168 (GRCm39) missense possibly damaging 0.89
R8888:Mrc1 UTSW 2 14,312,760 (GRCm39) missense probably damaging 1.00
R8895:Mrc1 UTSW 2 14,312,760 (GRCm39) missense probably damaging 1.00
R8952:Mrc1 UTSW 2 14,253,735 (GRCm39) missense probably damaging 0.98
R9315:Mrc1 UTSW 2 14,248,969 (GRCm39) nonsense probably null
R9366:Mrc1 UTSW 2 14,321,709 (GRCm39) missense probably damaging 0.99
R9373:Mrc1 UTSW 2 14,274,999 (GRCm39) missense probably damaging 0.99
R9418:Mrc1 UTSW 2 14,234,358 (GRCm39) missense probably benign 0.12
R9420:Mrc1 UTSW 2 14,312,790 (GRCm39) missense possibly damaging 0.53
R9489:Mrc1 UTSW 2 14,324,110 (GRCm39) missense probably benign 0.06
R9564:Mrc1 UTSW 2 14,266,117 (GRCm39) missense probably benign 0.00
R9572:Mrc1 UTSW 2 14,234,334 (GRCm39) missense probably benign
R9605:Mrc1 UTSW 2 14,324,110 (GRCm39) missense probably benign 0.06
R9606:Mrc1 UTSW 2 14,313,517 (GRCm39) missense probably benign 0.01
R9781:Mrc1 UTSW 2 14,310,175 (GRCm39) missense possibly damaging 0.90
R9781:Mrc1 UTSW 2 14,249,100 (GRCm39) missense probably benign
Z1177:Mrc1 UTSW 2 14,293,927 (GRCm39) missense probably damaging 1.00
Z1177:Mrc1 UTSW 2 14,248,949 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGAGAAATATGTGGGCCATCAAA -3'
(R):5'- ACTCCACTTCTGACCAAGGATGCT -3'

Sequencing Primer
(F):5'- ACTGGTTTACTTTTCCTTTTCAATTC -3'
(R):5'- gtagtgaggtgggagtgaatag -3'
Posted On 2013-06-12