Incidental Mutation 'R0442:Cd200'
ID |
39241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd200
|
Ensembl Gene |
ENSMUSG00000022661 |
Gene Name |
CD200 molecule |
Synonyms |
MRC OX-2, Mox2, OX2 |
MMRRC Submission |
038643-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R0442 (G1)
|
Quality Score |
168 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45202498-45229416 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 45217518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 58
(S58C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023341]
[ENSMUST00000163230]
[ENSMUST00000166512]
[ENSMUST00000167355]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023341
AA Change: S79C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023341 Gene: ENSMUSG00000022661 AA Change: S79C
Domain | Start | End | E-Value | Type |
IGv
|
46 |
123 |
5.24e-7 |
SMART |
Pfam:C2-set_2
|
142 |
220 |
2.6e-9 |
PFAM |
Pfam:Ig_2
|
148 |
206 |
2.9e-3 |
PFAM |
Pfam:ig
|
153 |
216 |
6.4e-8 |
PFAM |
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163230
AA Change: S79C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130518 Gene: ENSMUSG00000022661 AA Change: S79C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
IGv
|
46 |
123 |
5.24e-7 |
SMART |
Pfam:C2-set_2
|
142 |
221 |
5.5e-8 |
PFAM |
Pfam:ig
|
143 |
229 |
8e-11 |
PFAM |
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165910
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166512
AA Change: S79C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129541 Gene: ENSMUSG00000022661 AA Change: S79C
Domain | Start | End | E-Value | Type |
IGv
|
46 |
123 |
5.24e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166630
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167355
AA Change: S58C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132506 Gene: ENSMUSG00000022661 AA Change: S58C
Domain | Start | End | E-Value | Type |
IGv
|
25 |
102 |
5.24e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167552
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171328
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172297
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171855
|
Meta Mutation Damage Score |
0.7517 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.5%
- 10x: 93.4%
- 20x: 81.2%
|
Validation Efficiency |
99% (70/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] PHENOTYPE: Mice homozygous for disruptions in this gene have increased levels of all macrophage lineages. Macrophage are activated and mice display an increased susceptibility to autoimmune disease. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,435,551 (GRCm39) |
N816Y |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,553,563 (GRCm39) |
|
probably benign |
Het |
Cep128 |
C |
T |
12: 91,233,545 (GRCm39) |
E508K |
probably damaging |
Het |
Dnah2 |
C |
A |
11: 69,339,368 (GRCm39) |
L3046F |
probably damaging |
Het |
Duox2 |
T |
C |
2: 122,119,813 (GRCm39) |
N872D |
probably benign |
Het |
Fam90a1a |
C |
T |
8: 22,453,074 (GRCm39) |
T143I |
probably benign |
Het |
Fdft1 |
T |
C |
14: 63,400,798 (GRCm39) |
T112A |
probably benign |
Het |
Gimap9 |
G |
T |
6: 48,655,000 (GRCm39) |
G196* |
probably null |
Het |
Grhl1 |
G |
A |
12: 24,662,169 (GRCm39) |
R536Q |
probably damaging |
Het |
Gtpbp3 |
T |
A |
8: 71,944,135 (GRCm39) |
V293E |
probably damaging |
Het |
Hcn3 |
A |
T |
3: 89,058,847 (GRCm39) |
F251Y |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,462,045 (GRCm39) |
C971S |
possibly damaging |
Het |
Helz2 |
T |
A |
2: 180,874,002 (GRCm39) |
D2164V |
probably damaging |
Het |
Hif1an |
T |
G |
19: 44,554,451 (GRCm39) |
L188R |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
C |
T |
3: 88,023,266 (GRCm39) |
P519L |
probably damaging |
Het |
Jakmip1 |
T |
G |
5: 37,292,897 (GRCm39) |
|
probably null |
Het |
Klra1 |
T |
C |
6: 130,349,835 (GRCm39) |
Y201C |
probably damaging |
Het |
Minpp1 |
T |
C |
19: 32,471,348 (GRCm39) |
F299L |
possibly damaging |
Het |
Myb |
A |
G |
10: 21,002,095 (GRCm39) |
S749P |
probably benign |
Het |
Myo3b |
T |
C |
2: 70,069,305 (GRCm39) |
|
probably null |
Het |
Naip1 |
T |
A |
13: 100,581,024 (GRCm39) |
R74S |
probably benign |
Het |
Nt5m |
A |
G |
11: 59,765,445 (GRCm39) |
T158A |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,893,000 (GRCm39) |
|
probably benign |
Het |
Or5af1 |
T |
A |
11: 58,722,257 (GRCm39) |
Y92* |
probably null |
Het |
Or5b119 |
T |
G |
19: 13,457,412 (GRCm39) |
D50A |
probably damaging |
Het |
Or6c210 |
T |
C |
10: 129,495,693 (GRCm39) |
I6T |
probably benign |
Het |
Otogl |
T |
A |
10: 107,712,716 (GRCm39) |
T543S |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,640,009 (GRCm39) |
|
probably benign |
Het |
Plekhm1 |
A |
G |
11: 103,288,000 (GRCm39) |
M49T |
possibly damaging |
Het |
Rabl6 |
A |
T |
2: 25,477,534 (GRCm39) |
S305R |
probably damaging |
Het |
Rad54b |
G |
A |
4: 11,609,480 (GRCm39) |
|
probably benign |
Het |
Rad54b |
C |
A |
4: 11,610,362 (GRCm39) |
R660S |
probably benign |
Het |
Rexo5 |
T |
C |
7: 119,442,508 (GRCm39) |
L542P |
probably damaging |
Het |
Rp1 |
C |
T |
1: 4,416,970 (GRCm39) |
D1381N |
probably benign |
Het |
Scnn1a |
T |
G |
6: 125,316,100 (GRCm39) |
M346R |
probably damaging |
Het |
Sirpb1c |
A |
G |
3: 15,856,710 (GRCm39) |
I380T |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Sstr3 |
A |
T |
15: 78,424,597 (GRCm39) |
L50Q |
probably damaging |
Het |
St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
Sun5 |
T |
C |
2: 153,712,872 (GRCm39) |
D16G |
possibly damaging |
Het |
Svil |
A |
T |
18: 5,046,870 (GRCm39) |
T39S |
probably damaging |
Het |
Taar1 |
A |
G |
10: 23,796,380 (GRCm39) |
Y26C |
possibly damaging |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Use1 |
T |
C |
8: 71,819,702 (GRCm39) |
|
probably benign |
Het |
Usp54 |
T |
C |
14: 20,657,277 (GRCm39) |
Y7C |
probably damaging |
Het |
Zbtb37 |
A |
G |
1: 160,859,918 (GRCm39) |
F129S |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
Zfp28 |
T |
C |
7: 6,397,998 (GRCm39) |
L811P |
probably damaging |
Het |
Zfp616 |
T |
C |
11: 73,975,321 (GRCm39) |
I530T |
possibly damaging |
Het |
|
Other mutations in Cd200 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Cd200
|
APN |
16 |
45,217,409 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00583:Cd200
|
APN |
16 |
45,217,472 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01014:Cd200
|
APN |
16 |
45,215,063 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01567:Cd200
|
APN |
16 |
45,215,054 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01616:Cd200
|
APN |
16 |
45,217,419 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0667:Cd200
|
UTSW |
16 |
45,215,220 (GRCm39) |
missense |
probably benign |
0.09 |
R0675:Cd200
|
UTSW |
16 |
45,217,473 (GRCm39) |
missense |
probably benign |
0.01 |
R1163:Cd200
|
UTSW |
16 |
45,212,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R1595:Cd200
|
UTSW |
16 |
45,215,214 (GRCm39) |
missense |
probably benign |
0.16 |
R4846:Cd200
|
UTSW |
16 |
45,212,664 (GRCm39) |
missense |
probably benign |
0.16 |
R4882:Cd200
|
UTSW |
16 |
45,217,380 (GRCm39) |
missense |
probably benign |
0.15 |
R5790:Cd200
|
UTSW |
16 |
45,217,621 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6307:Cd200
|
UTSW |
16 |
45,217,545 (GRCm39) |
missense |
probably benign |
0.00 |
R6523:Cd200
|
UTSW |
16 |
45,220,633 (GRCm39) |
missense |
probably benign |
0.03 |
R7175:Cd200
|
UTSW |
16 |
45,220,578 (GRCm39) |
splice site |
probably null |
|
R8825:Cd200
|
UTSW |
16 |
45,215,157 (GRCm39) |
missense |
probably benign |
0.34 |
R8826:Cd200
|
UTSW |
16 |
45,215,157 (GRCm39) |
missense |
probably benign |
0.34 |
R8828:Cd200
|
UTSW |
16 |
45,215,157 (GRCm39) |
missense |
probably benign |
0.34 |
X0063:Cd200
|
UTSW |
16 |
45,215,194 (GRCm39) |
makesense |
probably null |
|
Z1177:Cd200
|
UTSW |
16 |
45,215,051 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGTGATGGCAAGACCCTAGAGAG -3'
(R):5'- TCTGTAGTGGAAGTGGTGACCCAG -3'
Sequencing Primer
(F):5'- gaaagggaaagagagagaggg -3'
(R):5'- GTGGTGACCCAGGATGAAAG -3'
|
Posted On |
2013-05-23 |