Incidental Mutation 'R4846:Cd200'
ID 372192
Institutional Source Beutler Lab
Gene Symbol Cd200
Ensembl Gene ENSMUSG00000022661
Gene Name CD200 molecule
Synonyms MRC OX-2, Mox2, OX2
MMRRC Submission 042459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4846 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 45202498-45229416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45212664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 261 (R261H)
Ref Sequence ENSEMBL: ENSMUSP00000130518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023341] [ENSMUST00000163230] [ENSMUST00000166512] [ENSMUST00000167355]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023341
AA Change: R261H

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023341
Gene: ENSMUSG00000022661
AA Change: R261H

IGv 46 123 5.24e-7 SMART
Pfam:C2-set_2 142 220 2.6e-9 PFAM
Pfam:Ig_2 148 206 2.9e-3 PFAM
Pfam:ig 153 216 6.4e-8 PFAM
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163230
AA Change: R261H

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130518
Gene: ENSMUSG00000022661
AA Change: R261H

signal peptide 1 30 N/A INTRINSIC
IGv 46 123 5.24e-7 SMART
Pfam:C2-set_2 142 221 5.5e-8 PFAM
Pfam:ig 143 229 8e-11 PFAM
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165910
Predicted Effect probably benign
Transcript: ENSMUST00000166512
SMART Domains Protein: ENSMUSP00000129541
Gene: ENSMUSG00000022661

IGv 46 123 5.24e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166630
Predicted Effect probably benign
Transcript: ENSMUST00000167355
SMART Domains Protein: ENSMUSP00000132506
Gene: ENSMUSG00000022661

IGv 25 102 5.24e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171855
Meta Mutation Damage Score 0.1007 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene have increased levels of all macrophage lineages. Macrophage are activated and mice display an increased susceptibility to autoimmune disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,393,392 (GRCm39) H299L probably damaging Het
Abcb4 C T 5: 8,985,180 (GRCm39) A687V probably benign Het
Abtb3 A G 10: 85,465,130 (GRCm39) T657A probably damaging Het
Adam20 A G 8: 41,248,048 (GRCm39) T53A probably benign Het
Afg1l G A 10: 42,330,490 (GRCm39) T59I probably benign Het
AI837181 A G 19: 5,476,329 (GRCm39) Q164R probably benign Het
Anapc15 T A 7: 101,546,974 (GRCm39) I12N probably benign Het
Ankrd55 A C 13: 112,499,988 (GRCm39) E278D probably benign Het
Axin2 A G 11: 108,833,125 (GRCm39) T437A probably benign Het
BC051665 T C 13: 60,931,895 (GRCm39) D168G probably damaging Het
Clk1 G A 1: 58,460,261 (GRCm39) S123L probably benign Het
Csrnp2 A T 15: 100,382,571 (GRCm39) D156E probably damaging Het
Ctss C T 3: 95,452,695 (GRCm39) Q159* probably null Het
Dennd2b C A 7: 109,156,043 (GRCm39) E236* probably null Het
Dip2a A G 10: 76,157,327 (GRCm39) S93P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Ephb6 G A 6: 41,593,743 (GRCm39) R542Q probably benign Het
Fmo3 T C 1: 162,781,880 (GRCm39) D491G possibly damaging Het
Galnt14 A T 17: 73,843,888 (GRCm39) M140K probably benign Het
Ghsr T C 3: 27,425,986 (GRCm39) V14A probably benign Het
Gm17546 C A 15: 95,727,843 (GRCm39) probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hc A G 2: 34,909,682 (GRCm39) V866A probably benign Het
Hoxb6 G A 11: 96,190,348 (GRCm39) G116R probably damaging Het
Hykk A G 9: 54,827,890 (GRCm39) Y43C probably damaging Het
Jade2 T C 11: 51,711,975 (GRCm39) T495A probably benign Het
Kansl1 A T 11: 104,233,798 (GRCm39) V755E possibly damaging Het
Lrp2 T A 2: 69,309,457 (GRCm39) D2814V probably damaging Het
Mbd5 T A 2: 49,147,009 (GRCm39) N406K probably damaging Het
Met A T 6: 17,491,928 (GRCm39) D230V probably damaging Het
Mrgprx2 A T 7: 48,132,584 (GRCm39) V78D probably damaging Het
Mrpl20 A G 4: 155,892,993 (GRCm39) T112A possibly damaging Het
Nek11 T A 9: 105,040,362 (GRCm39) E566D probably damaging Het
Nostrin T C 2: 69,005,923 (GRCm39) S235P probably damaging Het
Npas4 C A 19: 5,036,805 (GRCm39) S453I probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Psg18 A T 7: 18,084,711 (GRCm39) Y128* probably null Het
Ptges3l A T 11: 101,310,010 (GRCm39) probably benign Het
Pus1 T C 5: 110,927,796 (GRCm39) probably benign Het
Raf1 T A 6: 115,621,544 (GRCm39) S12C possibly damaging Het
Rps6-ps2 T G 8: 89,533,206 (GRCm39) noncoding transcript Het
Slc5a4b A G 10: 75,898,073 (GRCm39) L547P probably damaging Het
Socs3 A G 11: 117,858,654 (GRCm39) S135P probably benign Het
Spata31d1e T C 13: 59,890,047 (GRCm39) D591G probably benign Het
Stra6l G A 4: 45,873,682 (GRCm39) V281M possibly damaging Het
Suco G A 1: 161,661,977 (GRCm39) T818I possibly damaging Het
Syde1 A T 10: 78,424,731 (GRCm39) V367D probably damaging Het
Tet3 A T 6: 83,353,865 (GRCm39) L932* probably null Het
Trpm7 G A 2: 126,655,105 (GRCm39) L1278F possibly damaging Het
Vmn1r168 A T 7: 23,240,490 (GRCm39) T116S probably damaging Het
Wfdc6b A G 2: 164,459,214 (GRCm39) Q92R possibly damaging Het
Other mutations in Cd200
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Cd200 APN 16 45,217,409 (GRCm39) missense probably damaging 1.00
IGL00583:Cd200 APN 16 45,217,472 (GRCm39) missense probably damaging 0.97
IGL01014:Cd200 APN 16 45,215,063 (GRCm39) missense probably benign 0.11
IGL01567:Cd200 APN 16 45,215,054 (GRCm39) missense probably damaging 1.00
IGL01616:Cd200 APN 16 45,217,419 (GRCm39) missense possibly damaging 0.90
R0442:Cd200 UTSW 16 45,217,518 (GRCm39) missense probably damaging 1.00
R0667:Cd200 UTSW 16 45,215,220 (GRCm39) missense probably benign 0.09
R0675:Cd200 UTSW 16 45,217,473 (GRCm39) missense probably benign 0.01
R1163:Cd200 UTSW 16 45,212,715 (GRCm39) missense probably damaging 1.00
R1595:Cd200 UTSW 16 45,215,214 (GRCm39) missense probably benign 0.16
R4882:Cd200 UTSW 16 45,217,380 (GRCm39) missense probably benign 0.15
R5790:Cd200 UTSW 16 45,217,621 (GRCm39) missense possibly damaging 0.47
R6307:Cd200 UTSW 16 45,217,545 (GRCm39) missense probably benign 0.00
R6523:Cd200 UTSW 16 45,220,633 (GRCm39) missense probably benign 0.03
R7175:Cd200 UTSW 16 45,220,578 (GRCm39) splice site probably null
R8825:Cd200 UTSW 16 45,215,157 (GRCm39) missense probably benign 0.34
R8826:Cd200 UTSW 16 45,215,157 (GRCm39) missense probably benign 0.34
R8828:Cd200 UTSW 16 45,215,157 (GRCm39) missense probably benign 0.34
X0063:Cd200 UTSW 16 45,215,194 (GRCm39) makesense probably null
Z1177:Cd200 UTSW 16 45,215,051 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-01