Incidental Mutation 'R2268:Mrc2'
ID 242249
Institutional Source Beutler Lab
Gene Symbol Mrc2
Ensembl Gene ENSMUSG00000020695
Gene Name mannose receptor, C type 2
Synonyms Endo180, uPARAP, novel lectin
MMRRC Submission 040268-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2268 (G1)
Quality Score 225
Status 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: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (82/82)
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
Acox2 A T 14: 8,253,496 (GRCm38) M217K probably damaging Het
Adam34 C T 8: 44,103,647 (GRCm39) R666H probably benign Het
Adap2 G T 11: 80,056,552 (GRCm39) Q188H probably damaging Het
Adgrb3 T C 1: 25,150,898 (GRCm39) T872A possibly damaging Het
Ahnak A G 19: 8,987,938 (GRCm39) K3074R possibly damaging Het
Ano7 A T 1: 93,308,161 (GRCm39) D64V possibly damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Arl13a A G X: 133,106,162 (GRCm39) Q236R possibly damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Atn1 C G 6: 124,723,203 (GRCm39) probably benign Het
Ccser1 C T 6: 61,547,827 (GRCm39) T118M probably damaging Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Col17a1 G A 19: 47,638,550 (GRCm39) P1173S probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp4f17 G T 17: 32,736,928 (GRCm39) V87F probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dhodh A G 8: 110,321,306 (GRCm39) F360S possibly damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dynap C T 18: 70,374,218 (GRCm39) A103T probably benign Het
Edem2 G A 2: 155,544,137 (GRCm39) P538S probably benign Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Erich6 A T 3: 58,526,260 (GRCm39) S581T probably benign Het
Fam117b T C 1: 59,952,789 (GRCm39) L156P probably damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Fzd9 A G 5: 135,279,148 (GRCm39) S246P probably damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hmcn1 A G 1: 150,500,349 (GRCm39) probably benign Het
Hps3 G A 3: 20,067,099 (GRCm39) probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Irs2 T C 8: 11,057,586 (GRCm39) E282G probably damaging Het
Itih4 A G 14: 30,614,385 (GRCm39) D445G probably damaging Het
Kif14 T A 1: 136,447,486 (GRCm39) C1430* probably null Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lamb1 A T 12: 31,377,644 (GRCm39) I1630F probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mink1 G A 11: 70,492,550 (GRCm39) probably null Het
Mmrn2 A G 14: 34,121,449 (GRCm39) K773R probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Myoc C T 1: 162,476,625 (GRCm39) T443M probably damaging Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Nbeal1 T A 1: 60,370,037 (GRCm39) probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Opcml T C 9: 28,814,651 (GRCm39) I301T possibly damaging Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or8b1 T A 9: 38,399,504 (GRCm39) Y60N probably damaging Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Phka1 A G X: 101,584,716 (GRCm39) probably benign Het
Ppp2ca G A 11: 52,008,913 (GRCm39) G138R probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Rdh7 A G 10: 127,720,530 (GRCm39) S281P probably benign Het
Rps17 C T 7: 80,994,746 (GRCm39) R5H probably benign Het
Scgb1b2 T A 7: 30,991,201 (GRCm39) probably benign Het
Skic3 T G 13: 76,260,393 (GRCm39) probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Snap23 A G 2: 120,429,793 (GRCm39) T213A probably benign Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Srebf1 A G 11: 60,097,973 (GRCm39) S44P probably damaging Het
St8sia5 T C 18: 77,320,526 (GRCm39) S93P probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbc1d22b A G 17: 29,818,828 (GRCm39) H394R probably damaging Het
Tbx5 A T 5: 119,983,174 (GRCm39) probably null Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vangl1 A T 3: 102,104,160 (GRCm39) Y7N probably damaging Het
Vav2 A T 2: 27,182,667 (GRCm39) probably null Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r15 A G 5: 109,441,073 (GRCm39) Y262H probably benign Het
Vmn2r76 T C 7: 85,879,707 (GRCm39) M198V probably benign Het
Zfp831 A C 2: 174,486,034 (GRCm39) R236S probably benign 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
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
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'- ACACCATCTTGCACTTGAGC -3'
(R):5'- TGTGGAAGGAACCCATTGG -3'

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