Incidental Mutation 'R4882:Cd200'
| ID |
375354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd200
|
| Ensembl Gene |
ENSMUSG00000022661 |
| Gene Name |
CD200 molecule |
| Synonyms |
MRC OX-2, Mox2, OX2 |
| MMRRC Submission |
042490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45202498-45229416 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45217380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 104
(T104A)
|
| 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 benign
Transcript: ENSMUST00000023341
AA Change: T125A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000023341
Gene: ENSMUSG00000022661
AA Change: T125A
| 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 benign
Transcript: ENSMUST00000163230
AA Change: T125A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000130518
Gene: ENSMUSG00000022661
AA Change: T125A
| 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
AA Change: T125A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000129541
Gene: ENSMUSG00000022661
AA Change: T125A
| 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
AA Change: T104A
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132506
Gene: ENSMUSG00000022661
AA Change: T104A
| 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: ENSMUST00000172297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171328
|
| Meta Mutation Damage Score |
0.1339 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (59/60) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
A |
G |
4: 155,990,112 (GRCm39) |
D764G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,310,081 (GRCm39) |
I775F |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,983,261 (GRCm39) |
M1515K |
probably damaging |
Het |
| Aqp4 |
A |
G |
18: 15,531,311 (GRCm39) |
V150A |
possibly damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,223,129 (GRCm39) |
|
probably null |
Het |
| Bap1 |
C |
T |
14: 30,973,678 (GRCm39) |
|
probably benign |
Het |
| BB014433 |
A |
G |
8: 15,092,016 (GRCm39) |
V279A |
probably benign |
Het |
| Cacng8 |
T |
C |
7: 3,460,669 (GRCm39) |
Y151H |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,389 (GRCm39) |
S726P |
probably damaging |
Het |
| Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
| Ceacam13 |
A |
G |
7: 17,746,997 (GRCm39) |
H150R |
probably benign |
Het |
| Cebpzos |
T |
C |
17: 79,227,220 (GRCm39) |
Y65H |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,624,683 (GRCm39) |
M630L |
probably benign |
Het |
| Dop1b |
G |
T |
16: 93,549,802 (GRCm39) |
R247L |
possibly damaging |
Het |
| Dqx1 |
A |
G |
6: 83,043,069 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
T |
C |
11: 17,896,174 (GRCm39) |
S648G |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,936 (GRCm38) |
D2022G |
possibly damaging |
Het |
| Gpr158 |
T |
A |
2: 21,830,059 (GRCm39) |
N701K |
probably damaging |
Het |
| H2-Eb2 |
C |
T |
17: 34,553,230 (GRCm39) |
H139Y |
probably benign |
Het |
| Hbb-bh2 |
A |
T |
7: 103,488,455 (GRCm39) |
V114E |
probably damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,540 (GRCm39) |
Q28L |
probably benign |
Het |
| Inca1 |
T |
C |
11: 70,579,566 (GRCm39) |
T188A |
probably benign |
Het |
| Irf9 |
G |
T |
14: 55,846,496 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,214,369 (GRCm39) |
H238Q |
probably benign |
Het |
| Lpin1 |
G |
C |
12: 16,588,537 (GRCm39) |
F851L |
probably damaging |
Het |
| Map3k9 |
C |
T |
12: 81,770,936 (GRCm39) |
R884Q |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,320,495 (GRCm39) |
Q818* |
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,164,173 (GRCm39) |
|
probably null |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nppa |
G |
T |
4: 148,085,544 (GRCm39) |
M50I |
probably benign |
Het |
| Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,988,756 (GRCm39) |
N665K |
possibly damaging |
Het |
| Plekhh3 |
G |
A |
11: 101,056,009 (GRCm39) |
A47V |
probably damaging |
Het |
| Plekhh3 |
T |
A |
11: 101,058,764 (GRCm39) |
E156V |
probably null |
Het |
| Prpf19 |
T |
C |
19: 10,876,323 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,697,456 (GRCm39) |
V651E |
possibly damaging |
Het |
| Sgpl1 |
T |
C |
10: 60,948,044 (GRCm39) |
N171S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slx4 |
T |
C |
16: 3,798,860 (GRCm39) |
|
probably null |
Het |
| Smchd1 |
T |
A |
17: 71,665,234 (GRCm39) |
|
probably benign |
Het |
| Snca |
A |
G |
6: 60,792,719 (GRCm39) |
V63A |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,390,695 (GRCm39) |
Q92L |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,616,401 (GRCm39) |
V73A |
probably damaging |
Het |
| Usp38 |
G |
A |
8: 81,708,606 (GRCm39) |
Q991* |
probably null |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,866 (GRCm39) |
V673E |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,436,710 (GRCm39) |
Y2048H |
unknown |
Het |
| Zfp759 |
T |
A |
13: 67,287,354 (GRCm39) |
Y302N |
probably 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 |
|
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 |
|
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'- CCACATACTCAATGCTCCTGG -3'
(R):5'- TCCCAGGAACCCTTGATTGTG -3'
Sequencing Primer
(F):5'- TCCTGGAAATTATATTTCTGAAAGGG -3'
(R):5'- CCAGGAACCCTTGATTGTGACATG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation