Incidental Mutation 'R4396:Cd200r1'
ID |
325510 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd200r1
|
Ensembl Gene |
ENSMUSG00000022667 |
Gene Name |
CD200 receptor 1 |
Synonyms |
CD200R, Mox2r, OX2R |
MMRRC Submission |
041129-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4396 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
44586141-44615341 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44586417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 16
(W16R)
|
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: W16R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000053822 Gene: ENSMUSG00000022667 AA Change: W16R
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 |
probably benign
Transcript: ENSMUST00000134625
AA Change: W16R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138076 Gene: ENSMUSG00000022667 AA Change: W16R
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 |
unknown
Transcript: ENSMUST00000231633
AA Change: W16R
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (52/53) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
C |
7: 119,195,143 (GRCm39) |
F552L |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,325,765 (GRCm39) |
L70P |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,751,552 (GRCm39) |
S1071P |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,863,478 (GRCm39) |
N120D |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,549,947 (GRCm39) |
T317A |
unknown |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,718,361 (GRCm39) |
L1683P |
probably damaging |
Het |
Dynll1 |
A |
T |
5: 115,438,700 (GRCm39) |
C2S |
probably benign |
Het |
Elp2 |
T |
A |
18: 24,742,707 (GRCm39) |
S80T |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
Fzd3 |
A |
G |
14: 65,473,054 (GRCm39) |
I238T |
probably damaging |
Het |
Galnt7 |
A |
T |
8: 57,991,215 (GRCm39) |
F432I |
probably damaging |
Het |
Gemin5 |
T |
A |
11: 58,030,375 (GRCm39) |
T817S |
probably benign |
Het |
Gm5414 |
T |
G |
15: 101,534,101 (GRCm39) |
E294A |
probably damaging |
Het |
H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Kcnj4 |
C |
A |
15: 79,368,874 (GRCm39) |
A369S |
probably benign |
Het |
Llgl1 |
T |
C |
11: 60,596,834 (GRCm39) |
V145A |
probably benign |
Het |
Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
Mettl2 |
A |
G |
11: 105,017,604 (GRCm39) |
D38G |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mpp4 |
T |
C |
1: 59,183,961 (GRCm39) |
I260V |
possibly damaging |
Het |
Mtcl1 |
T |
C |
17: 66,651,220 (GRCm39) |
E1112G |
probably damaging |
Het |
Mtus2 |
T |
A |
5: 148,140,748 (GRCm39) |
N871K |
possibly damaging |
Het |
Mylk |
C |
T |
16: 34,732,645 (GRCm39) |
Q642* |
probably null |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Or4f57 |
A |
G |
2: 111,790,560 (GRCm39) |
I286T |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,387,732 (GRCm39) |
D875E |
probably benign |
Het |
Piezo1 |
G |
T |
8: 123,225,413 (GRCm39) |
T557K |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,929,291 (GRCm39) |
V49A |
possibly damaging |
Het |
Pramel6 |
A |
T |
2: 87,338,874 (GRCm39) |
I25F |
probably damaging |
Het |
Rreb1 |
C |
T |
13: 38,114,419 (GRCm39) |
Q593* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
Scnn1g |
T |
G |
7: 121,339,650 (GRCm39) |
S150A |
probably benign |
Het |
Sec24a |
A |
G |
11: 51,605,991 (GRCm39) |
F686L |
possibly damaging |
Het |
Sirt1 |
T |
C |
10: 63,157,777 (GRCm39) |
T546A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Traf5 |
A |
T |
1: 191,729,806 (GRCm39) |
V415E |
probably benign |
Het |
Traip |
C |
G |
9: 107,836,686 (GRCm39) |
T110S |
probably benign |
Het |
Treml2 |
T |
C |
17: 48,615,142 (GRCm39) |
V209A |
probably benign |
Het |
Trpv5 |
T |
C |
6: 41,634,830 (GRCm39) |
S500G |
probably benign |
Het |
Usp32 |
G |
A |
11: 84,944,801 (GRCm39) |
L296F |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zswim1 |
A |
G |
2: 164,667,369 (GRCm39) |
D207G |
probably damaging |
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 |
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 |
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'- TTGCTGTGTCAAGTCCCAGAG -3'
(R):5'- GTAACCCATATCTGGAGCAACC -3'
Sequencing Primer
(F):5'- CTGTGTCAAGTCCCAGAGAAGTTTC -3'
(R):5'- CCTTATCTCTACAACAGAAATTGGC -3'
|
Posted On |
2015-07-06 |