Incidental Mutation 'IGL03065:Cd200r1'
ID 409656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd200r1
Ensembl Gene ENSMUSG00000022667
Gene Name CD200 receptor 1
Synonyms CD200R, Mox2r, OX2R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL03065
Quality Score
Status
Chromosome 16
Chromosomal Location 44586141-44615341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44614645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 308 (V308G)
Ref Sequence ENSEMBL: ENSMUSP00000053822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057488] [ENSMUST00000134625] [ENSMUST00000231633]
AlphaFold Q9ES57
PDB Structure Structure of the extracellular portion of mouse CD200R [X-RAY DIFFRACTION]
Structure of the complex of the extracellular portions of mouse CD200R and mouse CD200 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000057488
AA Change: V308G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000053822
Gene: ENSMUSG00000022667
AA Change: V308G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 44 147 2.41e-6 SMART
Blast:IG_like 149 231 8e-47 BLAST
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134625
SMART Domains Protein: ENSMUSP00000138076
Gene: ENSMUSG00000022667

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 44 147 2.41e-6 SMART
Blast:IG_like 149 231 8e-48 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000231633
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 receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption of this gene display abnormal sleep patterns including fragmented vigilance states and diminished duration of wakefulness. Mice homozygous for a different knock-out allele exhibit protection from HSV-1 encephalitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 84,665,143 (GRCm39) M1322V possibly damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Afg2a T C 3: 37,486,328 (GRCm39) V350A possibly damaging Het
Als2 T C 1: 59,255,031 (GRCm39) S109G probably benign Het
Bpifa1 T A 2: 153,989,562 (GRCm39) N250K probably damaging Het
Capn9 A C 8: 125,332,298 (GRCm39) Y423S probably damaging Het
Cic T C 7: 24,985,246 (GRCm39) probably benign Het
Col5a1 T A 2: 27,922,757 (GRCm39) I275N possibly damaging Het
Col6a4 C A 9: 105,918,363 (GRCm39) probably benign Het
Cpeb1 T C 7: 81,086,038 (GRCm39) R35G probably benign Het
Cul1 A G 6: 47,472,015 (GRCm39) Y52C probably damaging Het
Dctn1 T C 6: 83,169,475 (GRCm39) F496L probably damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Eaf2 C T 16: 36,648,484 (GRCm39) R12H probably benign Het
Gcc1 T A 6: 28,418,401 (GRCm39) Q644L possibly damaging Het
Gm44865 C T 7: 108,165,004 (GRCm39) probably benign Het
Golgb1 C T 16: 36,733,228 (GRCm39) S825L probably benign Het
Gstp3 C T 19: 4,108,730 (GRCm39) probably null Het
Heph T A X: 95,571,173 (GRCm39) I669N probably benign Het
Il12rb1 A T 8: 71,273,202 (GRCm39) Y635F possibly damaging Het
Ing3 G A 6: 21,971,221 (GRCm39) A331T probably benign Het
Ipo8 T A 6: 148,686,205 (GRCm39) I762F probably benign Het
Itpr3 G A 17: 27,310,907 (GRCm39) R510Q probably damaging Het
Kif16b A G 2: 142,461,833 (GRCm39) Y1273H probably damaging Het
Map3k14 T C 11: 103,115,927 (GRCm39) E784G probably damaging Het
Mpdz A T 4: 81,210,802 (GRCm39) N1694K probably damaging Het
Myh13 T C 11: 67,235,679 (GRCm39) F648S probably damaging Het
Myh4 A G 11: 67,149,982 (GRCm39) H1847R probably benign Het
Ncoa7 T A 10: 30,523,993 (GRCm39) D840V probably damaging Het
Nxpe2 T A 9: 48,230,992 (GRCm39) N459I possibly damaging Het
Or4d10c C A 19: 12,065,975 (GRCm39) L60F possibly damaging Het
Or4k2 C A 14: 50,424,465 (GRCm39) D70Y probably damaging Het
Or4k47 T C 2: 111,451,535 (GRCm39) K295E probably damaging Het
Ovgp1 T C 3: 105,893,682 (GRCm39) F485S probably benign Het
Parp4 G T 14: 56,875,326 (GRCm39) A1182S probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pla2g15 G A 8: 106,886,851 (GRCm39) R114H probably benign Het
Plppr3 T A 10: 79,701,880 (GRCm39) T321S probably benign Het
Rnf113a1 A G X: 36,455,748 (GRCm39) D235G probably benign Het
Rsrp1 A G 4: 134,651,700 (GRCm39) T155A possibly damaging Het
Simc1 G T 13: 54,685,025 (GRCm39) C87F probably damaging Het
Slco1a5 A G 6: 142,194,569 (GRCm39) probably benign Het
Slco1a8 C A 6: 141,938,228 (GRCm39) L230F probably damaging Het
Smyd5 A G 6: 85,419,146 (GRCm39) D276G possibly damaging Het
Tmem132c A G 5: 127,640,688 (GRCm39) Y953C probably damaging Het
Trank1 T A 9: 111,219,361 (GRCm39) S2033T possibly damaging Het
Trim69 A G 2: 122,009,115 (GRCm39) T392A probably damaging Het
Tsks T C 7: 44,592,724 (GRCm39) V6A probably damaging Het
Yjefn3 A G 8: 70,342,206 (GRCm39) probably benign Het
Zfp263 T G 16: 3,564,344 (GRCm39) D211E probably benign Het
Zfp994 A T 17: 22,421,661 (GRCm39) F51L probably damaging Het
Znfx1 A T 2: 166,897,685 (GRCm39) M413K probably benign Het
Other mutations in Cd200r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Cd200r1 APN 16 44,614,672 (GRCm39) missense possibly damaging 0.88
IGL02111:Cd200r1 APN 16 44,609,144 (GRCm39) missense probably damaging 0.99
IGL02549:Cd200r1 APN 16 44,610,341 (GRCm39) missense probably damaging 1.00
R0218:Cd200r1 UTSW 16 44,609,106 (GRCm39) splice site probably benign
R1512:Cd200r1 UTSW 16 44,586,390 (GRCm39) missense probably benign 0.21
R3605:Cd200r1 UTSW 16 44,609,939 (GRCm39) missense possibly damaging 0.90
R3877:Cd200r1 UTSW 16 44,610,374 (GRCm39) missense possibly damaging 0.82
R3963:Cd200r1 UTSW 16 44,613,158 (GRCm39) missense probably benign 0.03
R4109:Cd200r1 UTSW 16 44,610,447 (GRCm39) missense possibly damaging 0.95
R4171:Cd200r1 UTSW 16 44,613,127 (GRCm39) missense probably damaging 0.98
R4296:Cd200r1 UTSW 16 44,610,033 (GRCm39) missense probably damaging 0.98
R4396:Cd200r1 UTSW 16 44,586,417 (GRCm39) missense probably benign 0.01
R4922:Cd200r1 UTSW 16 44,610,039 (GRCm39) missense probably damaging 1.00
R5090:Cd200r1 UTSW 16 44,609,924 (GRCm39) missense possibly damaging 0.79
R5302:Cd200r1 UTSW 16 44,613,172 (GRCm39) missense possibly damaging 0.86
R5686:Cd200r1 UTSW 16 44,610,527 (GRCm39) missense probably damaging 1.00
R5838:Cd200r1 UTSW 16 44,586,397 (GRCm39) missense possibly damaging 0.75
R5886:Cd200r1 UTSW 16 44,610,566 (GRCm39) missense possibly damaging 0.75
R5913:Cd200r1 UTSW 16 44,610,034 (GRCm39) missense possibly damaging 0.50
R6529:Cd200r1 UTSW 16 44,610,065 (GRCm39) missense possibly damaging 0.81
R6959:Cd200r1 UTSW 16 44,610,539 (GRCm39) missense probably damaging 0.99
R7185:Cd200r1 UTSW 16 44,609,975 (GRCm39) missense probably benign 0.30
R7211:Cd200r1 UTSW 16 44,609,120 (GRCm39) missense probably benign 0.00
R7386:Cd200r1 UTSW 16 44,610,211 (GRCm39) missense probably benign 0.33
R7773:Cd200r1 UTSW 16 44,610,050 (GRCm39) missense possibly damaging 0.69
R8293:Cd200r1 UTSW 16 44,610,084 (GRCm39) missense probably benign 0.01
RF007:Cd200r1 UTSW 16 44,610,374 (GRCm39) missense possibly damaging 0.82
Z1176:Cd200r1 UTSW 16 44,613,122 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02