Mutagenetix > Incidental Mutation

Incidental Mutation 'R3877:Cd200r1'

276921

Institutional Source

Beutler Lab

Gene Symbol

Cd200r1

Ensembl Gene

ENSMUSG00000022667

Gene Name

CD200 receptor 1

Synonyms

CD200R, Mox2r, OX2R

MMRRC Submission

040904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44586141-44615341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44610374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 161 (S161P)

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: S161P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053822
Gene: ENSMUSG00000022667
AA Change: S161P

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000134625
AA Change: S161P

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138076
Gene: ENSMUSG00000022667
AA Change: S161P

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	G	A	8: 41,249,671 (GRCm39)	V594I	possibly damaging	Het
Adgb	A	T	10: 10,318,227 (GRCm39)		probably null	Het
Adgrb3	A	C	1: 25,150,906 (GRCm39)	L1109R	probably damaging	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,717 (GRCm39)	M1197K	probably damaging	Het
Arhgef40	A	G	14: 52,239,742 (GRCm39)	T1319A	probably damaging	Het
C4bp	A	G	1: 130,575,764 (GRCm39)		probably null	Het
Ckap5	A	G	2: 91,445,495 (GRCm39)	K1711E	possibly damaging	Het
Cldn19	T	C	4: 119,114,094 (GRCm39)	S79P	possibly damaging	Het
Cplane1	T	C	15: 8,251,427 (GRCm39)	S1900P	probably benign	Het
Dnah17	T	G	11: 117,915,533 (GRCm39)	N4334T	probably damaging	Het
Dpm2	G	A	2: 32,462,412 (GRCm39)		probably null	Het
Eef1a2	A	T	2: 180,794,626 (GRCm39)	V191E	probably damaging	Het
Gmds	G	A	13: 32,411,248 (GRCm39)	T62I	probably damaging	Het
Hyal5	A	T	6: 24,876,630 (GRCm39)	I168F	probably damaging	Het
Idh3a	T	C	9: 54,499,679 (GRCm39)	V31A	probably benign	Het
Inf2	C	A	12: 112,577,264 (GRCm39)	A1036E	unknown	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	T	A	12: 25,051,564 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrp1b	A	G	2: 41,335,206 (GRCm39)	C779R	probably damaging	Het
Lrp2	A	G	2: 69,289,816 (GRCm39)		probably null	Het
Lrp2	G	A	2: 69,379,391 (GRCm39)	T107M	probably damaging	Het
Lrpap1	T	C	5: 35,255,547 (GRCm39)	E184G	probably benign	Het
Mapre1	C	T	2: 153,588,201 (GRCm39)	T8M	possibly damaging	Het
Mms19	G	A	19: 41,954,695 (GRCm39)	Q75*	probably null	Het
Mtcl1	T	C	17: 66,649,949 (GRCm39)	I1390V	probably damaging	Het
Muc5b	A	G	7: 141,411,289 (GRCm39)	S1412G	unknown	Het
Myh4	A	T	11: 67,148,009 (GRCm39)	Q1686L	probably benign	Het
Or1e25	A	T	11: 73,493,979 (GRCm39)	D191V	probably damaging	Het
Or9s13	A	T	1: 92,547,805 (GRCm39)	D59V	probably damaging	Het
Rcvrn	A	T	11: 67,590,802 (GRCm39)	I129F	probably damaging	Het
Reg3b	T	A	6: 78,348,216 (GRCm39)	M10K	possibly damaging	Het
Rimbp2	T	A	5: 128,850,529 (GRCm39)	E918V	probably damaging	Het
Rpl5	A	G	5: 108,051,667 (GRCm39)	T154A	probably benign	Het
Sall4	A	C	2: 168,598,162 (GRCm39)	L195R	probably damaging	Het
Sh3gl2	T	C	4: 85,297,618 (GRCm39)	S199P	possibly damaging	Het
Shank1	G	T	7: 43,994,416 (GRCm39)	R859L	unknown	Het
Thsd7b	A	G	1: 130,117,919 (GRCm39)	E1445G	possibly damaging	Het
Tnfaip6	A	G	2: 51,942,339 (GRCm39)	E216G	probably benign	Het
Tram1	T	C	1: 13,639,827 (GRCm39)	T307A	probably benign	Het
Trpv5	A	G	6: 41,637,277 (GRCm39)	V354A	probably benign	Het
Tyro3	A	G	2: 119,643,774 (GRCm39)	E745G	probably damaging	Het
Vmn1r68	A	T	7: 10,261,408 (GRCm39)	I230N	probably damaging	Het
Vmn2r28	A	T	7: 5,491,357 (GRCm39)	W297R	probably damaging	Het
Vrk3	A	T	7: 44,412,460 (GRCm39)		probably null	Het
Zfhx4	T	C	3: 5,465,845 (GRCm39)	V2001A	probably benign	Het
Zfp512b	AG	AGG	2: 181,230,556 (GRCm39)		probably null	Het

Other mutations in Cd200r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGGGGACTTACACATGTGAGAC -3'
(R):5'- CCAGTCAAATGAGAGACAATGC -3'

Sequencing Primer
(F):5'- TTACACATGTGAGACAGTAACACCTG -3'
(R):5'- CAGGACACATCAGACACATTGTTCTG -3'

Posted On

2015-04-06