Incidental Mutation 'IGL00662:Cd207'
| ID |
9488 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd207
|
| Ensembl Gene |
ENSMUSG00000034783 |
| Gene Name |
CD207 antigen |
| Synonyms |
Langerin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL00662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83648197-83654839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83652908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 74
(I74T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037882]
|
| AlphaFold |
Q8VBX4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037882
AA Change: I74T
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040746
Gene: ENSMUSG00000034783
AA Change: I74T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
198 |
323 |
9.42e-30 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010]
PHENOTYPE: Nullizygous mice lack Birbeck granules with no marked loss of Langerhans cell (LC) function. Knock-in mice expressing diphtheria toxin (DT) receptors show LC depletion. Heterozygotes for a knock-in allele show DT-induced LC ablation, altered contact hypersensitivity and susceptibility to infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
T |
C |
7: 100,939,103 (GRCm39) |
N587S |
probably benign |
Het |
| Bcar3 |
C |
T |
3: 122,306,585 (GRCm39) |
A186V |
probably benign |
Het |
| Bcr |
A |
T |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Cenpn |
T |
C |
8: 117,655,326 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,085,649 (GRCm39) |
F228I |
possibly damaging |
Het |
| Cmss1 |
T |
C |
16: 57,124,092 (GRCm39) |
D233G |
probably damaging |
Het |
| Copg1 |
C |
T |
6: 87,879,352 (GRCm39) |
T466I |
possibly damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,946,756 (GRCm39) |
S288P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,907,723 (GRCm39) |
I2760F |
possibly damaging |
Het |
| Gpi1 |
A |
G |
7: 33,915,375 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,581,081 (GRCm39) |
R318C |
probably benign |
Het |
| Kcnk9 |
A |
G |
15: 72,417,924 (GRCm39) |
S69P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,995,897 (GRCm39) |
T127A |
probably damaging |
Het |
| Khk |
T |
C |
5: 31,087,019 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,850,502 (GRCm39) |
S703T |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,844,194 (GRCm39) |
N47I |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,220,389 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
T |
A |
1: 125,515,161 (GRCm39) |
L438H |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,358,659 (GRCm39) |
Y334C |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,849,536 (GRCm39) |
N124S |
probably benign |
Het |
| Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,565,845 (GRCm39) |
L503* |
probably null |
Het |
| Utrn |
C |
T |
10: 12,540,705 (GRCm39) |
E1907K |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,435,708 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,681,904 (GRCm39) |
K1033I |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,122,339 (GRCm39) |
N367S |
probably benign |
Het |
|
| Other mutations in Cd207 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01101:Cd207
|
APN |
6 |
83,652,839 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02504:Cd207
|
APN |
6 |
83,654,788 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03309:Cd207
|
APN |
6 |
83,654,735 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0004:Cd207
|
UTSW |
6 |
83,651,230 (GRCm39) |
nonsense |
probably null |
|
|
R0646:Cd207
|
UTSW |
6 |
83,652,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1709:Cd207
|
UTSW |
6 |
83,649,818 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1756:Cd207
|
UTSW |
6 |
83,652,579 (GRCm39) |
missense |
probably benign |
|
|
R1867:Cd207
|
UTSW |
6 |
83,652,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1868:Cd207
|
UTSW |
6 |
83,648,683 (GRCm39) |
nonsense |
probably null |
|
|
R1955:Cd207
|
UTSW |
6 |
83,648,757 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5005:Cd207
|
UTSW |
6 |
83,651,367 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5024:Cd207
|
UTSW |
6 |
83,651,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6430:Cd207
|
UTSW |
6 |
83,652,869 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7401:Cd207
|
UTSW |
6 |
83,654,830 (GRCm39) |
start gained |
probably benign |
|
|
R8995:Cd207
|
UTSW |
6 |
83,652,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Cd207
|
UTSW |
6 |
83,652,699 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9366:Cd207
|
UTSW |
6 |
83,648,779 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2012-12-06 |
Incidental Mutation