Incidental Mutation 'IGL01616:Cd200'
ID92386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd200
Ensembl Gene ENSMUSG00000022661
Gene NameCD200 antigen
SynonymsOX2, Mox2, MRC OX-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL01616
Quality Score
Status
Chromosome16
Chromosomal Location45382135-45409053 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45397056 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 112 (T112A)
Ref Sequence ENSEMBL: ENSMUSP00000023341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023341] [ENSMUST00000163230] [ENSMUST00000166512] [ENSMUST00000167355]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023341
AA Change: T112A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023341
Gene: ENSMUSG00000022661
AA Change: T112A

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: T112A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130518
Gene: ENSMUSG00000022661
AA Change: T112A

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: T112A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129541
Gene: ENSMUSG00000022661
AA Change: T112A

DomainStartEndE-ValueType
IGv 46 123 5.24e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166630
Predicted Effect possibly damaging
Transcript: ENSMUST00000167355
AA Change: T91A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132506
Gene: ENSMUSG00000022661
AA Change: T91A

DomainStartEndE-ValueType
IGv 25 102 5.24e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171855
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T A 16: 85,887,814 probably null Het
Afg3l1 T A 8: 123,502,007 W771R probably damaging Het
Braf A G 6: 39,651,652 S348P probably damaging Het
Cep350 T C 1: 155,953,247 I304V probably benign Het
Fry A G 5: 150,399,599 T1072A probably damaging Het
Fry A T 5: 150,438,811 probably null Het
Fuk G T 8: 110,890,476 H388N possibly damaging Het
Gcdh C T 8: 84,893,659 G8D probably damaging Het
Ivns1abp C A 1: 151,361,543 T486K possibly damaging Het
Mat1a G A 14: 41,109,479 V55M probably damaging Het
Olfr656 T C 7: 104,617,721 F22S probably damaging Het
Pcnx3 C T 19: 5,667,259 probably benign Het
Psrc1 C A 3: 108,386,692 S275Y possibly damaging Het
Ptpn21 A G 12: 98,680,013 L1062P probably damaging Het
Slc22a13b-ps A C 9: 119,220,928 probably benign Het
Slc35b1 T A 11: 95,389,084 M178K probably benign Het
Slc6a11 A T 6: 114,134,868 Q132L possibly damaging Het
Slc9a8 C T 2: 167,424,166 T21I possibly damaging Het
Tox T C 4: 6,688,430 T526A probably damaging Het
Ubr3 C T 2: 70,020,484 P1749S probably benign Het
Wdfy3 C A 5: 101,913,260 A1363S probably damaging Het
Zdhhc23 T A 16: 43,973,480 H277L probably damaging Het
Other mutations in Cd200
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Cd200 APN 16 45397046 missense probably damaging 1.00
IGL00583:Cd200 APN 16 45397109 missense probably damaging 0.97
IGL01014:Cd200 APN 16 45394700 missense probably benign 0.11
IGL01567:Cd200 APN 16 45394691 missense probably damaging 1.00
R0442:Cd200 UTSW 16 45397155 missense probably damaging 1.00
R0667:Cd200 UTSW 16 45394857 missense probably benign 0.09
R0675:Cd200 UTSW 16 45397110 missense probably benign 0.01
R1163:Cd200 UTSW 16 45392352 missense probably damaging 1.00
R1595:Cd200 UTSW 16 45394851 missense probably benign 0.16
R4846:Cd200 UTSW 16 45392301 missense probably benign 0.16
R4882:Cd200 UTSW 16 45397017 missense probably benign 0.15
R5790:Cd200 UTSW 16 45397258 missense possibly damaging 0.47
R6307:Cd200 UTSW 16 45397182 missense probably benign 0.00
R6523:Cd200 UTSW 16 45400270 missense probably benign 0.03
R7175:Cd200 UTSW 16 45400215 splice site probably null
X0063:Cd200 UTSW 16 45394831 makesense probably null
Z1177:Cd200 UTSW 16 45394688 missense possibly damaging 0.61
Posted On2013-12-09