Incidental Mutation 'R5302:Cd200r1'
ID 404319
Institutional Source Beutler Lab
Gene Symbol Cd200r1
Ensembl Gene ENSMUSG00000022667
Gene Name CD200 receptor 1
Synonyms CD200R, Mox2r, OX2R
MMRRC Submission 042885-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5302 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 44586141-44615341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44613172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 259 (L259F)
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 possibly damaging
Transcript: ENSMUST00000057488
AA Change: L259F

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000053822
Gene: ENSMUSG00000022667
AA Change: L259F

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
D1Pas1 T A 1: 186,701,642 (GRCm39) Y524N probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
H2-Q2 G T 17: 35,563,885 (GRCm39) R255S probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pax3 A C 1: 78,098,249 (GRCm39) M380R possibly damaging Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Polr3b T C 10: 84,535,264 (GRCm39) Y858H possibly damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Raver1 T C 9: 20,986,677 (GRCm39) D739G probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc26a11 T C 11: 119,254,276 (GRCm39) L198P probably damaging Het
Slc44a3 A G 3: 121,303,962 (GRCm39) V258A probably damaging Het
Socs7 T A 11: 97,280,025 (GRCm39) I524N probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D possibly damaging 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
IGL03065:Cd200r1 APN 16 44,614,645 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CTTGCGTGAGTATTTATGGGGAA -3'
(R):5'- ACACTGTCATCATGCAAGATAATCT -3'

Sequencing Primer
(F):5'- AATAGTTATGGGTCCCTGCATTAGCC -3'
(R):5'- ATCTCATTCTAATACTGCATGTGTC -3'
Posted On 2016-07-22