Incidental Mutation 'R1573:Mrc2'
ID 170982
Institutional Source Beutler Lab
Gene Symbol Mrc2
Ensembl Gene ENSMUSG00000020695
Gene Name mannose receptor, C type 2
Synonyms Endo180, uPARAP, novel lectin
MMRRC Submission 039612-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1573 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 105183469-105241965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105227482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 572 (Y572N)
Ref Sequence ENSEMBL: ENSMUSP00000097909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021038] [ENSMUST00000100335]
AlphaFold Q64449
Predicted Effect probably damaging
Transcript: ENSMUST00000021038
AA Change: Y572N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021038
Gene: ENSMUSG00000020695
AA Change: Y572N

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 damaging
Transcript: ENSMUST00000100335
AA Change: Y572N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097909
Gene: ENSMUSG00000020695
AA Change: Y572N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151135
Meta Mutation Damage Score 0.5047 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.1%
Validation Efficiency 98% (90/92)
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
Adam19 T C 11: 46,004,445 (GRCm39) probably benign Het
Add1 C G 5: 34,758,740 (GRCm39) A18G possibly damaging Het
Alk T C 17: 72,910,113 (GRCm39) K198E possibly damaging Het
Angptl1 T A 1: 156,684,740 (GRCm39) L303Q possibly damaging Het
Aox1 A T 1: 58,348,186 (GRCm39) I635L probably benign Het
Atp5mk T A 19: 47,074,634 (GRCm39) Q9L possibly damaging Het
Atp8a2 G T 14: 60,097,655 (GRCm39) T791K probably benign Het
Auts2 T C 5: 131,469,325 (GRCm39) K664R probably damaging Het
Birc6 T A 17: 74,967,685 (GRCm39) probably benign Het
Cacna1i C A 15: 80,277,869 (GRCm39) probably null Het
Cacna2d1 T C 5: 16,575,625 (GRCm39) F1077L probably damaging Het
Camkk1 C T 11: 72,918,307 (GRCm39) R52C probably damaging Het
Camkmt T A 17: 85,403,958 (GRCm39) V60E probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cbr2 A T 11: 120,622,791 (GRCm39) L3Q possibly damaging Het
Ccar1 A T 10: 62,586,434 (GRCm39) D920E unknown Het
Cdc20b A G 13: 113,192,478 (GRCm39) N57S probably benign Het
Cep83 G A 10: 94,624,525 (GRCm39) E601K probably damaging Het
Cldn10 A T 14: 119,111,080 (GRCm39) I176L probably benign Het
Cpeb2 T C 5: 43,441,273 (GRCm39) probably benign Het
Crb1 A G 1: 139,265,344 (GRCm39) S25P probably damaging Het
Cyp3a59 A T 5: 146,039,684 (GRCm39) Y319F probably damaging Het
Dst C T 1: 34,240,312 (GRCm39) S1561F probably damaging Het
Dxo C T 17: 35,057,270 (GRCm39) R221C probably damaging Het
Dynlt4 A T 4: 116,985,191 (GRCm39) T5S probably benign Het
Epc2 A G 2: 49,439,984 (GRCm39) T801A possibly damaging Het
Fndc3a C A 14: 72,806,384 (GRCm39) C373F probably damaging Het
Frmpd1 T C 4: 45,283,932 (GRCm39) S918P probably benign Het
Fuca2 A G 10: 13,381,587 (GRCm39) T84A possibly damaging Het
Garin4 G A 1: 190,896,682 (GRCm39) probably benign Het
Gmeb1 A T 4: 131,979,051 (GRCm39) N21K probably benign Het
Htt T C 5: 35,021,718 (GRCm39) probably benign Het
Igsf1 T C X: 48,880,863 (GRCm39) R251G possibly damaging Het
Itih4 A T 14: 30,619,504 (GRCm39) H720L probably benign Het
Kank4 A T 4: 98,663,073 (GRCm39) L705* probably null Het
Krt34 A T 11: 99,931,854 (GRCm39) S122T probably benign Het
L1td1 A G 4: 98,625,517 (GRCm39) T571A probably benign Het
Lag3 T C 6: 124,886,210 (GRCm39) T248A possibly damaging Het
Lgi1 T A 19: 38,272,629 (GRCm39) H133Q probably benign Het
Map1a A T 2: 121,134,607 (GRCm39) T1808S probably benign Het
Mcm9 T C 10: 53,424,752 (GRCm39) T613A probably damaging Het
Meaf6 A G 4: 124,983,931 (GRCm39) I111V probably benign Het
Mki67 G A 7: 135,296,845 (GRCm39) P2730S possibly damaging Het
Mlc1 A C 15: 88,842,350 (GRCm39) C337G probably damaging Het
Mterf3 T C 13: 67,070,967 (GRCm39) N172S possibly damaging Het
Or3a1c T A 11: 74,046,196 (GRCm39) M72K probably benign Het
Or4b1 A T 2: 89,979,068 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,064 (GRCm39) D69V probably damaging Het
Or5ak4 A T 2: 85,161,687 (GRCm39) L185H probably damaging Het
Or6c6c T C 10: 129,541,487 (GRCm39) S247P probably damaging Het
Padi4 T G 4: 140,484,881 (GRCm39) T327P possibly damaging Het
Pga5 T A 19: 10,651,201 (GRCm39) I151F probably benign Het
Pkdrej G T 15: 85,702,275 (GRCm39) D1220E probably benign Het
Prokr2 T A 2: 132,215,684 (GRCm39) Q259L probably damaging Het
Ptbp2 C A 3: 119,546,754 (GRCm39) D43Y probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgps2 C T 1: 156,660,500 (GRCm39) R237Q possibly damaging Het
Rap1gds1 C A 3: 138,671,624 (GRCm39) probably null Het
Saa2 T A 7: 46,401,716 (GRCm39) M1K probably null Het
Samd9l T C 6: 3,375,426 (GRCm39) I612V probably damaging Het
Scn10a C T 9: 119,442,692 (GRCm39) V1518I probably benign Het
Serpina6 T C 12: 103,618,012 (GRCm39) D267G probably damaging Het
Sh2d4b A G 14: 40,564,329 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,718,034 (GRCm39) V505A probably benign Het
Smad2 A G 18: 76,395,657 (GRCm39) E32G possibly damaging Het
Smn1 T G 13: 100,263,118 (GRCm39) D32E probably damaging Het
Spata31d1c T C 13: 65,182,883 (GRCm39) S142P possibly damaging Het
Stk39 A T 2: 68,221,293 (GRCm39) I210N probably damaging Het
Tcte2 A G 17: 13,937,899 (GRCm39) probably benign Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Tenm2 A T 11: 35,937,896 (GRCm39) H1592Q probably damaging Het
Tescl A G 7: 24,032,668 (GRCm39) V219A probably damaging Het
Tgm6 C T 2: 129,993,660 (GRCm39) S633L probably benign Het
Tmcc1 C T 6: 116,110,924 (GRCm39) S123N probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ulk2 G A 11: 61,670,581 (GRCm39) R992C probably damaging Het
Vwa5b1 G A 4: 138,332,184 (GRCm39) H278Y probably damaging Het
Wwp2 C T 8: 108,275,121 (GRCm39) R373W probably damaging Het
Zfp24 A T 18: 24,150,399 (GRCm39) D170E possibly damaging Het
Zfp808 T C 13: 62,319,311 (GRCm39) I180T possibly damaging Het
Zfp820 T A 17: 22,037,737 (GRCm39) Q530H probably benign Het
Zfp975 A T 7: 42,311,507 (GRCm39) Y369N 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
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
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'- TGGTCACCATCACCAACAGGTAGAG -3'
(R):5'- TGCTTCAAGGCCAGTCAAACAGGG -3'

Sequencing Primer
(F):5'- GGATGATATCCTGGCATCCTGC -3'
(R):5'- GGTGTTAAGGGCTCACCAG -3'
Posted On 2014-04-13