Incidental Mutation 'R2271:Mrc2'
ID 242503
Institutional Source Beutler Lab
Gene Symbol Mrc2
Ensembl Gene ENSMUSG00000020695
Gene Name mannose receptor, C type 2
Synonyms Endo180, uPARAP, novel lectin
MMRRC Submission 040271-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2271 (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: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T A 10: 28,857,575 (GRCm39) Q194L probably damaging Het
Acsf2 T A 11: 94,449,699 (GRCm39) K574* probably null Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Ap4e1 T C 2: 126,889,083 (GRCm39) probably null Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Bcan T A 3: 87,900,401 (GRCm39) S611C probably damaging Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc146 C A 5: 21,604,719 (GRCm39) D40Y probably benign Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Chd7 A G 4: 8,785,532 (GRCm39) D612G probably damaging Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging Het
Cops6 A T 5: 138,159,403 (GRCm39) N10I probably benign Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Cyp27a1 A G 1: 74,775,846 (GRCm39) N344D probably damaging Het
Des T G 1: 75,340,137 (GRCm39) M348R probably damaging Het
Dis3l T A 9: 64,238,165 (GRCm39) D109V probably damaging Het
Disp3 C T 4: 148,356,059 (GRCm39) R267Q possibly damaging Het
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Dnajb14 G A 3: 137,591,141 (GRCm39) G31S probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Efcab6 T A 15: 83,831,200 (GRCm39) R571S probably benign Het
Emsy T G 7: 98,275,830 (GRCm39) K352N probably damaging Het
Erbb4 T C 1: 68,238,047 (GRCm39) N814S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Hps6 C T 19: 45,994,121 (GRCm39) A686V possibly damaging Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mocs1 A T 17: 49,756,137 (GRCm39) K198M probably damaging Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Neu3 G C 7: 99,462,650 (GRCm39) R358G probably benign Het
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1n1 G A 2: 36,749,637 (GRCm39) S241F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Or8j3 A G 2: 86,028,161 (GRCm39) F312L probably benign Het
Pik3c2b T C 1: 133,031,166 (GRCm39) S1491P probably benign Het
Plb1 G T 5: 32,450,586 (GRCm39) D376Y probably damaging Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plekhm1 C T 11: 103,277,948 (GRCm39) E383K probably benign Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Ptprh C A 7: 4,606,132 (GRCm39) probably benign Het
Rngtt T A 4: 33,500,302 (GRCm39) C565* probably null Het
Sacs A G 14: 61,442,109 (GRCm39) H1385R probably benign Het
Sec24a A G 11: 51,607,277 (GRCm39) S656P possibly damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Sin3b T A 8: 73,460,047 (GRCm39) N211K probably benign Het
Slc22a2 A T 17: 12,805,692 (GRCm39) M148L probably benign Het
Slc3a1 G A 17: 85,371,220 (GRCm39) V591I probably benign Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Spag17 C T 3: 100,014,113 (GRCm39) P2129S probably damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Sphkap T A 1: 83,234,942 (GRCm39) D1628V probably damaging Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
U2surp T C 9: 95,373,473 (GRCm39) E232G possibly damaging Het
Usp25 T A 16: 76,873,317 (GRCm39) F458L probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r10 A G 6: 57,091,088 (GRCm39) T227A probably damaging Het
Zcchc12 C T X: 35,462,118 (GRCm39) T345M possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Zfp799 A G 17: 33,040,777 (GRCm39) Y58H probably damaging Het
Zfp938 C T 10: 82,061,381 (GRCm39) G413D 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
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
R4791: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'- ATCTTGCACTTGAGCTGCCAG -3'
(R):5'- TGTGGAAGGAACCCATTGG -3'

Sequencing Primer
(F):5'- GGTCTATCACCATAAGGAGAATCTGC -3'
(R):5'- CCATTGGGAAGGTGTGGGAATG -3'
Posted On 2014-10-16