Incidental Mutation 'IGL01567:Cd200'
| ID |
91014 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd200
|
| Ensembl Gene |
ENSMUSG00000022661 |
| Gene Name |
CD200 molecule |
| Synonyms |
MRC OX-2, Mox2, OX2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01567
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
45202498-45229416 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 45215054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 199
(L199R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130518
(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: L199R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023341
Gene: ENSMUSG00000022661
AA Change: L199R
| 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: L199R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130518
Gene: ENSMUSG00000022661
AA Change: L199R
| 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 benign
Transcript: ENSMUST00000166512
|
| SMART Domains |
Protein: ENSMUSP00000129541
Gene: ENSMUSG00000022661
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
46 |
123 |
5.24e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167355
|
| SMART Domains |
Protein: ENSMUSP00000132506
Gene: ENSMUSG00000022661
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
25 |
102 |
5.24e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171328
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,071,628 (GRCm39) |
S317G |
probably benign |
Het |
| Akna |
T |
C |
4: 63,300,087 (GRCm39) |
T652A |
probably benign |
Het |
| Anxa9 |
G |
A |
3: 95,209,743 (GRCm39) |
|
probably benign |
Het |
| Bpifb4 |
T |
A |
2: 153,789,198 (GRCm39) |
|
probably benign |
Het |
| Bptf |
A |
G |
11: 106,949,600 (GRCm39) |
S2125P |
probably damaging |
Het |
| Capns2 |
C |
A |
8: 93,628,634 (GRCm39) |
H174Q |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,709,164 (GRCm39) |
V651A |
probably damaging |
Het |
| Cox18 |
G |
A |
5: 90,365,447 (GRCm39) |
Q251* |
probably null |
Het |
| Depdc1a |
T |
C |
3: 159,232,183 (GRCm39) |
S645P |
probably damaging |
Het |
| Dio3 |
T |
A |
12: 110,245,861 (GRCm39) |
C66S |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,890,496 (GRCm39) |
L258Q |
probably damaging |
Het |
| Ghrhr |
A |
G |
6: 55,361,108 (GRCm39) |
D274G |
probably damaging |
Het |
| Gm5129 |
A |
G |
5: 29,940,862 (GRCm39) |
|
probably benign |
Het |
| Grb7 |
A |
G |
11: 98,345,776 (GRCm39) |
N518S |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,530,278 (GRCm39) |
A430T |
probably damaging |
Het |
| Map10 |
C |
A |
8: 126,398,232 (GRCm39) |
Q542K |
probably benign |
Het |
| Metap1 |
T |
C |
3: 138,168,150 (GRCm39) |
T325A |
probably damaging |
Het |
| Ncan |
A |
T |
8: 70,560,984 (GRCm39) |
M661K |
probably benign |
Het |
| Or2f1b |
T |
C |
6: 42,739,661 (GRCm39) |
I225T |
probably benign |
Het |
| Or51h5 |
A |
G |
7: 102,577,623 (GRCm39) |
I263V |
probably benign |
Het |
| Otog |
T |
C |
7: 45,926,039 (GRCm39) |
|
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,620,387 (GRCm39) |
D116G |
probably damaging |
Het |
| Rps15 |
T |
A |
10: 80,129,643 (GRCm39) |
L86Q |
probably benign |
Het |
| Sfxn4 |
G |
T |
19: 60,842,336 (GRCm39) |
T122K |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,527,526 (GRCm39) |
V165A |
probably damaging |
Het |
| Spmip7 |
A |
G |
11: 11,465,015 (GRCm39) |
H122R |
possibly damaging |
Het |
| Synm |
A |
G |
7: 67,384,980 (GRCm39) |
V452A |
probably damaging |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,013 (GRCm39) |
H257R |
possibly damaging |
Het |
| Tmem26 |
A |
G |
10: 68,587,061 (GRCm39) |
T170A |
probably damaging |
Het |
| Wdfy4 |
T |
G |
14: 32,873,618 (GRCm39) |
E230D |
probably benign |
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 |
|
IGL01616:Cd200
|
APN |
16 |
45,217,419 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0442:Cd200
|
UTSW |
16 |
45,217,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation