Incidental Mutation 'R4791:Mrc2'
ID 368608
Institutional Source Beutler Lab
Gene Symbol Mrc2
Ensembl Gene ENSMUSG00000020695
Gene Name mannose receptor, C type 2
Synonyms Endo180, uPARAP, novel lectin
MMRRC Submission 041976-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4791 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 105183469-105241965 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 105239257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021038] [ENSMUST00000100335]
AlphaFold Q64449
Predicted Effect probably benign
Transcript: ENSMUST00000021038
SMART Domains Protein: ENSMUSP00000021038
Gene: ENSMUSG00000020695

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
RICIN 40 160 8.49e-12 SMART
FN2 179 227 4.83e-27 SMART
CLECT 234 359 1.15e-33 SMART
CLECT 381 504 1.47e-40 SMART
CLECT 520 644 6.82e-27 SMART
CLECT 668 808 2.71e-30 SMART
CLECT 824 950 6.77e-31 SMART
Predicted Effect probably null
Transcript: ENSMUST00000100335
SMART Domains Protein: ENSMUSP00000097909
Gene: ENSMUSG00000020695

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
RICIN 40 160 8.49e-12 SMART
FN2 179 227 4.83e-27 SMART
CLECT 234 359 1.15e-33 SMART
CLECT 381 504 1.47e-40 SMART
CLECT 520 644 6.82e-27 SMART
CLECT 668 808 2.71e-30 SMART
CLECT 824 950 6.77e-31 SMART
CLECT 971 1107 3.91e-36 SMART
CLECT 1124 1243 1.04e-17 SMART
CLECT 1259 1392 9.08e-23 SMART
transmembrane domain 1412 1434 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mice are visibly normal, viable and have no reproductive defects. Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 45,631,584 (GRCm39) V1231M probably benign Het
Agl A G 3: 116,580,177 (GRCm39) probably null Het
Ak7 T C 12: 105,676,404 (GRCm39) F35L probably benign Het
Aldh1a1 A G 19: 20,597,349 (GRCm39) N110S probably damaging Het
Arhgef5 C T 6: 43,260,117 (GRCm39) L1368F probably damaging Het
Atp5mf T C 5: 145,121,365 (GRCm39) Y72C possibly damaging Het
Atp6v0a2 T G 5: 124,784,667 (GRCm39) F317V probably benign Het
Bank1 A T 3: 135,960,690 (GRCm39) S56T probably benign Het
Cachd1 T A 4: 100,775,282 (GRCm39) C166S probably damaging Het
Cand1 A G 10: 119,046,607 (GRCm39) I961T probably benign Het
Ccdc73 G A 2: 104,811,450 (GRCm39) probably null Het
Cct6b A T 11: 82,632,830 (GRCm39) probably null Het
Chd2 A C 7: 73,118,325 (GRCm39) S1098A probably benign Het
Col6a4 A T 9: 105,957,401 (GRCm39) V141E possibly damaging Het
Col6a5 T C 9: 105,807,983 (GRCm39) T1022A unknown Het
Cr2 A T 1: 194,838,243 (GRCm39) C698S probably damaging Het
Dnaaf5 C A 5: 139,170,405 (GRCm39) Q786K possibly damaging Het
Dnah6 T C 6: 73,072,057 (GRCm39) D2423G probably benign Het
Dnhd1 T C 7: 105,370,324 (GRCm39) F4583S probably damaging Het
Duoxa2 A T 2: 122,131,679 (GRCm39) T123S probably damaging Het
Edem1 T G 6: 108,818,595 (GRCm39) V201G probably damaging Het
Eef1d C T 15: 75,775,531 (GRCm39) A43T possibly damaging Het
Elavl3 T C 9: 21,935,974 (GRCm39) K249E probably damaging Het
Epg5 G T 18: 77,992,211 (GRCm39) E303* probably null Het
Fam83h T C 15: 75,874,217 (GRCm39) D1040G probably damaging Het
Fndc7 A T 3: 108,783,975 (GRCm39) F211L probably benign Het
Fsip2 A G 2: 82,812,452 (GRCm39) T2924A possibly damaging Het
Gm5616 T C 9: 48,361,983 (GRCm39) noncoding transcript Het
Gpr135 T A 12: 72,116,642 (GRCm39) D375V probably benign Het
Hgd A G 16: 37,452,187 (GRCm39) *446W probably null Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Htra2 A G 6: 83,028,798 (GRCm39) L379P probably damaging Het
Hypk G T 2: 121,288,136 (GRCm39) probably null Het
Ica1l A G 1: 60,049,360 (GRCm39) F198L probably damaging Het
Igsf11 G A 16: 38,845,226 (GRCm39) S319N probably damaging Het
Il12rb1 T C 8: 71,266,012 (GRCm39) S213P possibly damaging Het
Katnal1 C T 5: 148,841,460 (GRCm39) V135M probably damaging Het
Kcnc4 G A 3: 107,354,859 (GRCm39) P530S probably benign Het
Kcnu1 T C 8: 26,403,780 (GRCm39) Y24H probably damaging Het
Kdm5b A G 1: 134,558,538 (GRCm39) E1515G possibly damaging Het
Kif18a A T 2: 109,118,220 (GRCm39) M12L probably benign Het
Klre1 T C 6: 129,561,118 (GRCm39) S160P probably damaging Het
Lama2 A T 10: 27,343,267 (GRCm39) H68Q probably damaging Het
Lgals8 T C 13: 12,468,203 (GRCm39) K49R possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lsr T C 7: 30,657,977 (GRCm39) T328A probably damaging Het
Mark4 C T 7: 19,185,582 (GRCm39) E51K probably benign Het
Mindy2 T C 9: 70,541,283 (GRCm39) probably null Het
Mkks G A 2: 136,718,082 (GRCm39) T400I probably benign Het
Mon2 T A 10: 122,841,962 (GRCm39) M1544L probably benign Het
Myo5c T G 9: 75,198,198 (GRCm39) L1341R probably damaging Het
Nin T C 12: 70,090,581 (GRCm39) R945G possibly damaging Het
Nox4 T C 7: 86,954,055 (GRCm39) V120A probably benign Het
Or1s2 T A 19: 13,758,706 (GRCm39) C243* probably null Het
Or2aj4 G T 16: 19,385,413 (GRCm39) H73Q possibly damaging Het
Or2z2 A T 11: 58,346,370 (GRCm39) V135E possibly damaging Het
Or4a66 C T 2: 88,531,242 (GRCm39) V144I probably benign Het
Or7g29 T C 9: 19,287,105 (GRCm39) E24G probably benign Het
Plekha2 T A 8: 25,532,778 (GRCm39) R398W probably damaging Het
Pradc1 A G 6: 85,424,173 (GRCm39) W58R probably damaging Het
Pramel20 A G 4: 143,297,559 (GRCm39) probably benign Het
Prrc2b A G 2: 32,107,351 (GRCm39) probably null Het
Psg19 T A 7: 18,528,071 (GRCm39) N224I probably damaging Het
Ranbp17 A C 11: 33,437,746 (GRCm39) V164G probably benign Het
Rasgrp3 A G 17: 75,807,168 (GRCm39) S211G probably benign Het
Rcc1l G A 5: 134,192,615 (GRCm39) P270S possibly damaging Het
Rfx6 T A 10: 51,596,040 (GRCm39) probably null Het
Rnf222 A T 11: 68,783,845 (GRCm39) E137D probably damaging Het
Selenof T G 3: 144,302,584 (GRCm39) Y120D probably damaging Het
Sema3b G T 9: 107,481,012 (GRCm39) D108E probably damaging Het
Shank3 T A 15: 89,384,557 (GRCm39) L143Q probably damaging Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Sirt4 T C 5: 115,618,373 (GRCm39) T234A possibly damaging Het
Slc25a30 C A 14: 76,000,806 (GRCm39) W266L probably benign Het
Spata20 A T 11: 94,375,412 (GRCm39) N127K probably damaging Het
Spmip4 G T 6: 50,572,817 (GRCm39) P32Q probably damaging Het
St14 C T 9: 31,006,918 (GRCm39) G636D probably benign Het
Stat5a G A 11: 100,756,289 (GRCm39) E170K probably damaging Het
Sugp2 C T 8: 70,695,440 (GRCm39) R138C probably damaging Het
Sult1e1 C A 5: 87,734,589 (GRCm39) W119L possibly damaging Het
Sv2a T C 3: 96,099,874 (GRCm39) V608A possibly damaging Het
Syne2 T C 12: 75,956,018 (GRCm39) Y575H possibly damaging Het
Taok2 G A 7: 126,467,304 (GRCm39) S167L possibly damaging Het
Thoc6 T C 17: 23,889,041 (GRCm39) H151R possibly damaging Het
Tm9sf2 T C 14: 122,377,062 (GRCm39) S197P probably benign Het
Tmem260 CAGGGACCGGCATAG CAG 14: 48,749,451 (GRCm39) probably benign Het
Tmx2 G A 2: 84,508,340 (GRCm39) P15L probably damaging Het
Top1mt C T 15: 75,540,474 (GRCm39) probably null Het
Trpm6 T A 19: 18,845,345 (GRCm39) S1682T probably benign Het
Trrap C T 5: 144,740,087 (GRCm39) R1171W probably damaging Het
Ugt3a1 A G 15: 9,361,665 (GRCm39) D147G probably damaging Het
Utp25 G A 1: 192,810,575 (GRCm39) H143Y probably benign Het
Vnn3 A G 10: 23,740,519 (GRCm39) H274R probably benign Het
Vwf C A 6: 125,620,326 (GRCm39) T1668K Het
Zfp568 T C 7: 29,714,608 (GRCm39) S162P probably damaging Het
Zfp658 T A 7: 43,223,890 (GRCm39) C722S possibly damaging Het
Zfp808 T A 13: 62,319,045 (GRCm39) H91Q probably damaging Het
Other mutations in Mrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Mrc2 APN 11 105,219,567 (GRCm39) missense probably damaging 0.96
IGL01374:Mrc2 APN 11 105,238,469 (GRCm39) nonsense probably null
IGL01751:Mrc2 APN 11 105,216,560 (GRCm39) missense probably benign 0.00
IGL01780:Mrc2 APN 11 105,216,547 (GRCm39) missense probably damaging 1.00
IGL01835:Mrc2 APN 11 105,227,503 (GRCm39) missense probably damaging 1.00
IGL02350:Mrc2 APN 11 105,216,547 (GRCm39) missense probably damaging 1.00
IGL02357:Mrc2 APN 11 105,216,547 (GRCm39) missense probably damaging 1.00
IGL02829:Mrc2 APN 11 105,227,533 (GRCm39) missense possibly damaging 0.85
IGL02863:Mrc2 APN 11 105,224,446 (GRCm39) splice site probably benign
IGL02940:Mrc2 APN 11 105,231,997 (GRCm39) missense probably damaging 1.00
IGL02988:Mrc2 UTSW 11 105,216,397 (GRCm39) missense probably benign 0.04
R0254:Mrc2 UTSW 11 105,238,692 (GRCm39) missense probably benign 0.00
R0634:Mrc2 UTSW 11 105,238,518 (GRCm39) missense probably benign 0.01
R1102:Mrc2 UTSW 11 105,231,647 (GRCm39) missense probably benign
R1233:Mrc2 UTSW 11 105,239,241 (GRCm39) missense probably damaging 1.00
R1244:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R1458:Mrc2 UTSW 11 105,228,598 (GRCm39) missense probably benign 0.01
R1500:Mrc2 UTSW 11 105,238,551 (GRCm39) missense probably damaging 1.00
R1573:Mrc2 UTSW 11 105,227,482 (GRCm39) missense probably damaging 1.00
R1770:Mrc2 UTSW 11 105,229,619 (GRCm39) missense probably damaging 0.99
R1842:Mrc2 UTSW 11 105,228,546 (GRCm39) missense probably damaging 0.98
R2156:Mrc2 UTSW 11 105,238,682 (GRCm39) splice site probably null
R2165:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2265:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2266:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2267:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2268:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2269:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2270:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2271:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2272:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2296:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2298:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2300:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2326:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2518:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2519:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2520:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R2895:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3029:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3030:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3079:Mrc2 UTSW 11 105,227,539 (GRCm39) missense probably damaging 0.97
R3122:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3149:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3150:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3420:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3422:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3441:Mrc2 UTSW 11 105,238,542 (GRCm39) missense possibly damaging 0.87
R3726:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3731:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3800:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3820:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3821:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3837:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3838:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3849:Mrc2 UTSW 11 105,183,729 (GRCm39) critical splice donor site probably null
R3850:Mrc2 UTSW 11 105,183,729 (GRCm39) critical splice donor site probably null
R3914:Mrc2 UTSW 11 105,238,058 (GRCm39) splice site probably benign
R3932:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3933:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R3971:Mrc2 UTSW 11 105,218,857 (GRCm39) missense possibly damaging 0.65
R4105:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4107:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4113:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4274:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4399:Mrc2 UTSW 11 105,227,484 (GRCm39) nonsense probably null
R4477:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4478:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4493:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4494:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4495:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4547:Mrc2 UTSW 11 105,227,467 (GRCm39) missense probably benign 0.04
R4600:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4601:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4602:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4603:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4610:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4611:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4637:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4672:Mrc2 UTSW 11 105,233,923 (GRCm39) missense probably benign 0.22
R4674:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4675:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4693:Mrc2 UTSW 11 105,234,528 (GRCm39) missense probably benign 0.00
R4706:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4707:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4792:Mrc2 UTSW 11 105,239,257 (GRCm39) splice site probably null
R4888:Mrc2 UTSW 11 105,232,034 (GRCm39) missense probably damaging 0.99
R5523:Mrc2 UTSW 11 105,234,408 (GRCm39) missense probably benign
R5600:Mrc2 UTSW 11 105,224,492 (GRCm39) missense probably damaging 1.00
R5634:Mrc2 UTSW 11 105,227,040 (GRCm39) nonsense probably null
R5692:Mrc2 UTSW 11 105,227,468 (GRCm39) missense probably damaging 0.99
R5706:Mrc2 UTSW 11 105,223,169 (GRCm39) missense probably damaging 1.00
R5775:Mrc2 UTSW 11 105,228,639 (GRCm39) missense probably benign 0.00
R6140:Mrc2 UTSW 11 105,237,615 (GRCm39) missense probably benign
R6146:Mrc2 UTSW 11 105,216,470 (GRCm39) missense probably damaging 0.98
R6225:Mrc2 UTSW 11 105,237,646 (GRCm39) missense probably benign 0.01
R6437:Mrc2 UTSW 11 105,240,669 (GRCm39) missense probably damaging 1.00
R6618:Mrc2 UTSW 11 105,240,708 (GRCm39) missense probably damaging 1.00
R6675:Mrc2 UTSW 11 105,233,906 (GRCm39) splice site probably null
R6680:Mrc2 UTSW 11 105,216,579 (GRCm39) missense probably damaging 0.98
R6868:Mrc2 UTSW 11 105,219,244 (GRCm39) missense probably damaging 1.00
R6979:Mrc2 UTSW 11 105,239,461 (GRCm39) missense probably damaging 0.96
R7038:Mrc2 UTSW 11 105,223,062 (GRCm39) missense possibly damaging 0.46
R7303:Mrc2 UTSW 11 105,216,629 (GRCm39) missense probably damaging 1.00
R7320:Mrc2 UTSW 11 105,220,061 (GRCm39) missense possibly damaging 0.92
R7422:Mrc2 UTSW 11 105,183,609 (GRCm39) start gained probably benign
R7537:Mrc2 UTSW 11 105,183,623 (GRCm39) missense probably benign
R7640:Mrc2 UTSW 11 105,223,121 (GRCm39) missense possibly damaging 0.48
R7709:Mrc2 UTSW 11 105,237,285 (GRCm39) missense probably benign 0.10
R7885:Mrc2 UTSW 11 105,223,092 (GRCm39) missense probably damaging 0.98
R7976:Mrc2 UTSW 11 105,238,829 (GRCm39) missense possibly damaging 0.74
R8042:Mrc2 UTSW 11 105,239,181 (GRCm39) missense probably damaging 0.98
R8096:Mrc2 UTSW 11 105,234,333 (GRCm39) missense probably damaging 1.00
R8353:Mrc2 UTSW 11 105,223,137 (GRCm39) missense probably damaging 0.98
R8453:Mrc2 UTSW 11 105,223,137 (GRCm39) missense probably damaging 0.98
R8519:Mrc2 UTSW 11 105,238,132 (GRCm39) missense possibly damaging 0.62
R8771:Mrc2 UTSW 11 105,240,596 (GRCm39) missense probably benign
R8787:Mrc2 UTSW 11 105,238,465 (GRCm39) missense probably benign
R8925:Mrc2 UTSW 11 105,216,334 (GRCm39) missense probably benign 0.00
R8927:Mrc2 UTSW 11 105,216,334 (GRCm39) missense probably benign 0.00
R8991:Mrc2 UTSW 11 105,229,740 (GRCm39) missense probably benign
R9017:Mrc2 UTSW 11 105,216,711 (GRCm39) missense probably damaging 1.00
R9096:Mrc2 UTSW 11 105,231,398 (GRCm39) missense probably damaging 1.00
R9097:Mrc2 UTSW 11 105,231,398 (GRCm39) missense probably damaging 1.00
R9223:Mrc2 UTSW 11 105,220,093 (GRCm39) missense probably damaging 1.00
R9471:Mrc2 UTSW 11 105,234,559 (GRCm39) missense probably benign 0.03
R9531:Mrc2 UTSW 11 105,240,731 (GRCm39) missense possibly damaging 0.82
T0970:Mrc2 UTSW 11 105,238,453 (GRCm39) missense probably benign 0.41
X0004:Mrc2 UTSW 11 105,238,453 (GRCm39) missense probably benign 0.41
X0062:Mrc2 UTSW 11 105,238,301 (GRCm39) critical splice donor site probably null
Z1176:Mrc2 UTSW 11 105,238,186 (GRCm39) nonsense probably null
Z1176:Mrc2 UTSW 11 105,232,202 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CACTTGAGCTGCCAGAGAAGAG -3'
(R):5'- TGTGGAAGGAACCCATTGG -3'

Sequencing Primer
(F):5'- GGTCTATCACCATAAGGAGAATCTGC -3'
(R):5'- CCATTGGGAAGGTGTGGGAATG -3'
Posted On 2016-02-04