Incidental Mutation 'R6529:Cd200r1'
ID |
522225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd200r1
|
Ensembl Gene |
ENSMUSG00000022667 |
Gene Name |
CD200 receptor 1 |
Synonyms |
CD200R, Mox2r, OX2R |
MMRRC Submission |
044655-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R6529 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
44586141-44615341 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44610065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 95
(T95A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057488]
[ENSMUST00000134625]
[ENSMUST00000231633]
|
AlphaFold |
Q9ES57 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057488
AA Change: T95A
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000053822 Gene: ENSMUSG00000022667 AA Change: T95A
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: T95A
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138076 Gene: ENSMUSG00000022667 AA Change: T95A
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 |
0.1261 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
98% (41/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
T |
7: 78,739,479 (GRCm39) |
M296L |
probably benign |
Het |
Atxn2 |
T |
C |
5: 121,949,677 (GRCm39) |
|
probably null |
Het |
B3galnt2 |
G |
T |
13: 14,170,377 (GRCm39) |
R242S |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,098,750 (GRCm39) |
I218M |
possibly damaging |
Het |
Casz1 |
G |
A |
4: 149,022,646 (GRCm39) |
E571K |
probably damaging |
Het |
Ccdc163 |
A |
G |
4: 116,566,121 (GRCm39) |
|
probably null |
Het |
Cd109 |
A |
G |
9: 78,619,907 (GRCm39) |
D1383G |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,153,191 (GRCm39) |
E219G |
possibly damaging |
Het |
Cibar1 |
A |
G |
4: 12,168,978 (GRCm39) |
V175A |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,494,034 (GRCm39) |
V1730D |
probably damaging |
Het |
Eps8 |
G |
A |
6: 137,491,335 (GRCm39) |
H348Y |
possibly damaging |
Het |
Fbxo2 |
A |
T |
4: 148,249,511 (GRCm39) |
D187V |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,812,657 (GRCm39) |
Y2992F |
probably benign |
Het |
Gle1 |
A |
T |
2: 29,825,539 (GRCm39) |
T10S |
possibly damaging |
Het |
Got2 |
T |
C |
8: 96,615,013 (GRCm39) |
|
probably benign |
Het |
Gtf3c6 |
T |
C |
10: 40,127,251 (GRCm39) |
T34A |
probably benign |
Het |
H4c11 |
G |
T |
13: 21,919,476 (GRCm39) |
V71F |
possibly damaging |
Het |
Klf15 |
C |
T |
6: 90,444,394 (GRCm39) |
T323I |
probably damaging |
Het |
Krtap5-3 |
C |
A |
7: 141,756,079 (GRCm39) |
C305* |
probably null |
Het |
Map2k6 |
A |
T |
11: 110,383,388 (GRCm39) |
D99V |
probably damaging |
Het |
Nckap5l |
G |
T |
15: 99,324,475 (GRCm39) |
P676Q |
probably benign |
Het |
Nup188 |
A |
T |
2: 30,216,466 (GRCm39) |
T757S |
possibly damaging |
Het |
Or10ak13 |
C |
T |
4: 118,638,907 (GRCm39) |
V292I |
probably benign |
Het |
Or51q1c |
T |
C |
7: 103,653,133 (GRCm39) |
V217A |
probably benign |
Het |
Peg3 |
C |
A |
7: 6,711,071 (GRCm39) |
A1384S |
probably damaging |
Het |
Plekho2 |
C |
T |
9: 65,480,383 (GRCm39) |
R14H |
probably benign |
Het |
Qsox2 |
A |
T |
2: 26,107,753 (GRCm39) |
C247S |
probably damaging |
Het |
Slc25a13 |
A |
G |
6: 6,073,451 (GRCm39) |
V469A |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,958,551 (GRCm39) |
T74A |
probably benign |
Het |
Spmip7 |
T |
C |
11: 11,465,009 (GRCm39) |
F120S |
possibly damaging |
Het |
Sult1a1 |
T |
C |
7: 126,274,310 (GRCm39) |
T91A |
probably benign |
Het |
Sult3a2 |
T |
C |
10: 33,655,733 (GRCm39) |
Y82C |
probably damaging |
Het |
Taf1b |
A |
T |
12: 24,606,650 (GRCm39) |
H490L |
possibly damaging |
Het |
Trrap |
T |
A |
5: 144,771,014 (GRCm39) |
H2804Q |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,567,298 (GRCm39) |
I106V |
probably benign |
Het |
Wdcp |
T |
A |
12: 4,901,143 (GRCm39) |
V333D |
probably damaging |
Het |
Wdr46 |
T |
A |
17: 34,168,120 (GRCm39) |
L564Q |
possibly damaging |
Het |
Wrn |
T |
C |
8: 33,826,004 (GRCm39) |
|
probably null |
Het |
Zfp664 |
C |
T |
5: 124,963,352 (GRCm39) |
H249Y |
probably damaging |
Het |
Zfp975 |
A |
C |
7: 42,311,325 (GRCm39) |
H429Q |
possibly 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 |
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 |
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'- GCTGTAATACTTCCATTAGTCAAGC -3'
(R):5'- ATTGTCACTTACCCAGCACTTG -3'
Sequencing Primer
(F):5'- CTGTGGATAGACCTAACTCACAAGG -3'
(R):5'- CATGTGTAAGTCCCCTCA -3'
|
Posted On |
2018-06-06 |