Incidental Mutation 'T0970:Mrc2'
ID 262090
Institutional Source Beutler Lab
Gene Symbol Mrc2
Ensembl Gene ENSMUSG00000020695
Gene Name mannose receptor, C type 2
Synonyms Endo180, uPARAP, novel lectin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # T0970 (G3) of strain 713
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 105183469-105241965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 105238453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 1200 (E1200A)
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 benign
Transcript: ENSMUST00000100335
AA Change: E1200A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097909
Gene: ENSMUSG00000020695
AA Change: E1200A

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: ENSMUST00000151135
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (25/25)
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A T 10: 88,817,052 (GRCm39) L591* probably null Het
Aqp4 A G 18: 15,532,940 (GRCm39) L51P probably damaging Het
Cemip A T 7: 83,632,354 (GRCm39) C403S probably damaging Het
Cfap74 G T 4: 155,547,574 (GRCm39) probably null Het
Glis3 G A 19: 28,508,332 (GRCm39) R551W probably damaging Het
Gm11232 T A 4: 71,674,740 (GRCm39) Y254F possibly damaging Het
Map3k14 G T 11: 103,115,124 (GRCm39) C837* probably null Het
Nfix T C 8: 85,453,112 (GRCm39) N314S possibly damaging Het
Nphp4 T C 4: 152,640,836 (GRCm39) S1068P probably damaging Het
Nup98 A C 7: 101,835,959 (GRCm39) probably benign Het
Or13p8 A G 4: 118,583,464 (GRCm39) R7G probably benign Het
Pcdhac2 T C 18: 37,278,388 (GRCm39) V456A possibly damaging Het
Pcdhb1 G T 18: 37,399,026 (GRCm39) G326C probably damaging Het
Prss38 A G 11: 59,263,974 (GRCm39) V246A possibly damaging Het
Rnf26 C G 9: 44,023,369 (GRCm39) R172P probably damaging Het
Septin4 A T 11: 87,458,558 (GRCm39) T311S probably damaging Het
Serinc3 TATCATC TATC 2: 163,469,835 (GRCm39) probably benign Het
Spire1 C A 18: 67,634,133 (GRCm39) probably null Het
Tex2 T A 11: 106,437,772 (GRCm39) I633F unknown Het
Tle2 A G 10: 81,416,119 (GRCm39) D108G possibly damaging Het
Txnrd2 T C 16: 18,260,523 (GRCm39) V185A probably damaging Het
Unc45b C A 11: 82,813,714 (GRCm39) H374N probably benign Het
Wtap T C 17: 13,188,277 (GRCm39) 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
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
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
Posted On 2015-02-04