Incidental Mutation 'R3849:Mrc2'
ID 359737
Institutional Source Beutler Lab
Gene Symbol Mrc2
Ensembl Gene ENSMUSG00000020695
Gene Name mannose receptor, C type 2
Synonyms Endo180, uPARAP, novel lectin
MMRRC Submission 040897-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3849 (G1)
Quality Score 78
Status Validated
Chromosome 11
Chromosomal Location 105183469-105241965 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 105183729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021038] [ENSMUST00000021038] [ENSMUST00000100335]
AlphaFold Q64449
Predicted Effect probably null
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: 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126931
Meta Mutation Damage Score 0.9590 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (52/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik A T 7: 136,978,069 (GRCm39) N102K possibly damaging Het
Abca1 C T 4: 53,061,481 (GRCm39) probably benign Het
Adamts17 T A 7: 66,490,215 (GRCm39) L99Q possibly damaging Het
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Aspm T A 1: 139,386,024 (GRCm39) V556E probably benign Het
Axin1 T A 17: 26,406,771 (GRCm39) Y455N probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Car8 T A 4: 8,189,353 (GRCm39) I154F probably benign Het
Ccl27a T A 4: 41,773,232 (GRCm39) T76S probably benign Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Chd1 A T 17: 15,952,133 (GRCm39) T291S probably damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpa4 T C 6: 30,590,872 (GRCm39) F390S probably damaging Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Dusp8 T C 7: 141,643,802 (GRCm39) E37G probably damaging Het
Efr3b T C 12: 4,033,414 (GRCm39) N131S probably benign Het
Fan1 T C 7: 64,022,119 (GRCm39) Y378C probably damaging Het
Fcgr2b T C 1: 170,795,704 (GRCm39) N75S possibly damaging Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Gp9 A G 6: 87,756,133 (GRCm39) I49M probably benign Het
Grip1 G A 10: 119,765,863 (GRCm39) G65D probably damaging Het
Hoxc10 T C 15: 102,875,879 (GRCm39) V196A probably benign Het
Hpx A G 7: 105,245,498 (GRCm39) C92R probably damaging Het
Ighv1-22 A G 12: 114,710,301 (GRCm39) F9S possibly damaging Het
Kif24 C T 4: 41,404,734 (GRCm39) R422H probably damaging Het
Klk1b1 T C 7: 43,618,751 (GRCm39) Y43H probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrguk A G 6: 34,050,703 (GRCm39) D387G probably damaging Het
Lysmd1 G A 3: 95,045,772 (GRCm39) G203D probably damaging Het
Mpnd T C 17: 56,318,692 (GRCm39) S150P probably damaging Het
Mtr A G 13: 12,262,251 (GRCm39) S152P probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Ndufa13 T C 8: 70,354,260 (GRCm39) D9G probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Nsd1 A G 13: 55,394,504 (GRCm39) T702A probably benign Het
Or7d10 A T 9: 19,832,105 (GRCm39) Y200F probably damaging Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Plxna1 C A 6: 89,333,501 (GRCm39) R376L probably damaging Het
Plxnc1 A G 10: 94,630,294 (GRCm39) V1535A probably benign Het
Prdx5 A G 19: 6,884,218 (GRCm39) L166P probably damaging Het
Prol1 A T 5: 88,476,476 (GRCm39) I289F unknown Het
Prss23 T C 7: 89,158,959 (GRCm39) Y370C probably damaging Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rnase2b T A 14: 51,400,205 (GRCm39) H95Q probably damaging Het
Rnf103 C G 6: 71,485,859 (GRCm39) C163W probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Rusf1 C T 7: 127,884,380 (GRCm39) V201I probably damaging Het
Syne2 C T 12: 76,092,839 (GRCm39) Q5150* probably null Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Vwa3a A T 7: 120,361,687 (GRCm39) K133* probably null Het
Vwce T C 19: 10,624,269 (GRCm39) S387P probably damaging Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q 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
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'- ACACTGGGATCCTTGTGGAC -3'
(R):5'- CTTGCTCCCAGAAAAGTGGAG -3'

Sequencing Primer
(F):5'- TCATCTGAGCACAGCGC -3'
(R):5'- TCCAGTCACACACACACAC -3'
Posted On 2015-12-14