Incidental Mutation 'IGL00583:Cd200'
ID 3967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd200
Ensembl Gene ENSMUSG00000022661
Gene Name CD200 molecule
Synonyms MRC OX-2, Mox2, OX2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL00583
Quality Score
Status
Chromosome 16
Chromosomal Location 45202498-45229416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45217472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 73 (I73R)
Ref Sequence ENSEMBL: ENSMUSP00000132506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023341] [ENSMUST00000163230] [ENSMUST00000166512] [ENSMUST00000167355]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023341
AA Change: I94R

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023341
Gene: ENSMUSG00000022661
AA Change: I94R

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000163230
AA Change: I94R

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130518
Gene: ENSMUSG00000022661
AA Change: I94R

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000166512
AA Change: I94R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129541
Gene: ENSMUSG00000022661
AA Change: I94R

DomainStartEndE-ValueType
IGv 46 123 5.24e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166630
Predicted Effect probably damaging
Transcript: ENSMUST00000167355
AA Change: I73R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132506
Gene: ENSMUSG00000022661
AA Change: I73R

DomainStartEndE-ValueType
IGv 25 102 5.24e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172297
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 C T 13: 104,433,726 (GRCm39) Q52* probably null Het
Ambp G T 4: 63,072,255 (GRCm39) A13D possibly damaging Het
Angptl3 A G 4: 98,923,077 (GRCm39) T283A probably damaging Het
Atp13a5 A T 16: 29,094,205 (GRCm39) probably benign Het
Borcs8 A G 8: 70,597,757 (GRCm39) H93R probably benign Het
Bzw1 T C 1: 58,440,494 (GRCm39) probably benign Het
Coq8a T C 1: 179,995,954 (GRCm39) D528G probably benign Het
Edem1 T A 6: 108,832,520 (GRCm39) probably benign Het
Enpp5 C T 17: 44,396,088 (GRCm39) probably benign Het
Eprs1 G T 1: 185,139,345 (GRCm39) C910F probably benign Het
Erich6 T C 3: 58,544,464 (GRCm39) E41G unknown Het
Gls2 A G 10: 128,040,751 (GRCm39) M340V probably benign Het
Gna12 A T 5: 140,746,773 (GRCm39) V224E probably damaging Het
Golph3l T C 3: 95,496,414 (GRCm39) L46P possibly damaging Het
Limch1 T C 5: 67,111,022 (GRCm39) I83T probably damaging Het
Mas1 T C 17: 13,060,852 (GRCm39) I190M possibly damaging Het
Mefv T A 16: 3,533,936 (GRCm39) K112* probably null Het
Oas1e T A 5: 120,932,337 (GRCm39) E102V probably damaging Het
Pde6a T C 18: 61,390,339 (GRCm39) C521R probably damaging Het
Pigw A G 11: 84,768,714 (GRCm39) V205A possibly damaging Het
Ptpn21 G A 12: 98,699,860 (GRCm39) S18F probably damaging Het
Shprh C T 10: 11,063,764 (GRCm39) T1279I probably benign Het
Slc11a2 T C 15: 100,295,618 (GRCm39) E501G probably benign Het
Sult2a3 T A 7: 13,856,905 (GRCm39) Y5F probably benign Het
Tll1 A G 8: 64,658,326 (GRCm39) L31P probably benign Het
Tubgcp3 G A 8: 12,671,906 (GRCm39) Q779* probably null Het
U2surp T A 9: 95,343,577 (GRCm39) probably benign Het
Other mutations in Cd200
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Cd200 APN 16 45,217,409 (GRCm39) missense probably damaging 1.00
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
R4846:Cd200 UTSW 16 45,212,664 (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
Posted On 2012-04-20