Incidental Mutation 'IGL01384:Clec4a2'
| ID |
78982 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec4a2
|
| Ensembl Gene |
ENSMUSG00000030148 |
| Gene Name |
C-type lectin domain family 4, member a2 |
| Synonyms |
dendritic cell immunoreceptor, Clecsf6, DCIR, Dcir1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL01384
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
123099627-123119891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 123104947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 79
(K79T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032248]
[ENSMUST00000041779]
[ENSMUST00000159891]
[ENSMUST00000161365]
[ENSMUST00000161636]
|
| AlphaFold |
Q9QZ15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032248
AA Change: K79T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032248
Gene: ENSMUSG00000030148
AA Change: K79T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
131 |
256 |
1.18e-30 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041779
AA Change: K79T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045781
Gene: ENSMUSG00000030148
AA Change: K79T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
CLECT
|
107 |
232 |
1.18e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159891
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161365
AA Change: K79T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124615
Gene: ENSMUSG00000030148
AA Change: K79T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
CLECT
|
107 |
232 |
1.18e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161636
|
| SMART Domains |
Protein: ENSMUSP00000123973
Gene: ENSMUSG00000030148
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
| 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 member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased IgG2a, IgG2b and IgG3 levels, increased B cell proliferation, enlarged lymph nodes and degeneration of seminiferous tubules. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,575,749 (GRCm39) |
R683G |
possibly damaging |
Het |
| Abca9 |
A |
G |
11: 110,036,463 (GRCm39) |
S549P |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,174,273 (GRCm39) |
S17P |
possibly damaging |
Het |
| Ankrd36 |
C |
A |
11: 5,578,348 (GRCm39) |
H546N |
probably benign |
Het |
| Aopep |
C |
T |
13: 63,338,290 (GRCm39) |
|
probably benign |
Het |
| Bivm |
T |
G |
1: 44,165,907 (GRCm39) |
I119S |
possibly damaging |
Het |
| Ccdc88a |
G |
T |
11: 29,453,915 (GRCm39) |
D1693Y |
probably damaging |
Het |
| Clcn6 |
G |
A |
4: 148,103,423 (GRCm39) |
R242C |
probably damaging |
Het |
| Cspp1 |
G |
A |
1: 10,186,905 (GRCm39) |
R129H |
probably damaging |
Het |
| Cyp2c40 |
A |
T |
19: 39,801,027 (GRCm39) |
M47K |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,990,401 (GRCm39) |
D280G |
probably benign |
Het |
| Fbxo38 |
A |
G |
18: 62,655,487 (GRCm39) |
S400P |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,305,242 (GRCm39) |
I184M |
probably benign |
Het |
| Gm9949 |
A |
T |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
| Grtp1 |
A |
T |
8: 13,229,629 (GRCm39) |
V253E |
probably damaging |
Het |
| Irag1 |
A |
G |
7: 110,525,708 (GRCm39) |
V148A |
possibly damaging |
Het |
| Lamb1 |
T |
A |
12: 31,370,930 (GRCm39) |
M1327K |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,313,846 (GRCm39) |
D2295V |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,284,156 (GRCm39) |
D3874G |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,400,555 (GRCm39) |
I509F |
unknown |
Het |
| Mug1 |
A |
C |
6: 121,826,433 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,208,916 (GRCm39) |
L1903Q |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,759,322 (GRCm39) |
A1229S |
probably benign |
Het |
| Myorg |
G |
T |
4: 41,498,151 (GRCm39) |
A493E |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,421,152 (GRCm39) |
I721N |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,858 (GRCm39) |
I287N |
probably damaging |
Het |
| Pla2g2c |
A |
G |
4: 138,471,012 (GRCm39) |
K131R |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 92,000,268 (GRCm39) |
I557N |
probably benign |
Het |
| Sirpb1b |
T |
A |
3: 15,613,789 (GRCm39) |
N98Y |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,872,365 (GRCm39) |
V1182A |
probably benign |
Het |
| Tagap1 |
T |
C |
17: 7,224,282 (GRCm39) |
D138G |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,477,477 (GRCm39) |
F567I |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,285,425 (GRCm39) |
D1987V |
possibly damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,446 (GRCm39) |
I37N |
probably damaging |
Het |
| Wif1 |
A |
T |
10: 120,920,855 (GRCm39) |
T226S |
possibly damaging |
Het |
| Zfp428 |
A |
G |
7: 24,210,167 (GRCm39) |
D22G |
possibly damaging |
Het |
| Zfp521 |
A |
T |
18: 13,976,980 (GRCm39) |
N1144K |
probably benign |
Het |
|
| Other mutations in Clec4a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Clec4a2
|
APN |
6 |
123,116,037 (GRCm39) |
intron |
probably benign |
|
|
IGL01481:Clec4a2
|
APN |
6 |
123,119,459 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02159:Clec4a2
|
APN |
6 |
123,116,285 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02436:Clec4a2
|
APN |
6 |
123,117,637 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03140:Clec4a2
|
APN |
6 |
123,117,735 (GRCm39) |
splice site |
probably benign |
|
|
R0485:Clec4a2
|
UTSW |
6 |
123,100,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1852:Clec4a2
|
UTSW |
6 |
123,116,084 (GRCm39) |
nonsense |
probably null |
|
|
R3431:Clec4a2
|
UTSW |
6 |
123,116,370 (GRCm39) |
splice site |
probably null |
|
|
R4436:Clec4a2
|
UTSW |
6 |
123,105,013 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4524:Clec4a2
|
UTSW |
6 |
123,102,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Clec4a2
|
UTSW |
6 |
123,117,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Clec4a2
|
UTSW |
6 |
123,117,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Clec4a2
|
UTSW |
6 |
123,119,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Clec4a2
|
UTSW |
6 |
123,116,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Clec4a2
|
UTSW |
6 |
123,116,079 (GRCm39) |
missense |
unknown |
|
|
R7454:Clec4a2
|
UTSW |
6 |
123,119,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7644:Clec4a2
|
UTSW |
6 |
123,101,974 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8053:Clec4a2
|
UTSW |
6 |
123,104,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8162:Clec4a2
|
UTSW |
6 |
123,117,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Clec4a2
|
UTSW |
6 |
123,100,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9127:Clec4a2
|
UTSW |
6 |
123,116,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Clec4a2
|
UTSW |
6 |
123,100,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9341:Clec4a2
|
UTSW |
6 |
123,104,955 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9343:Clec4a2
|
UTSW |
6 |
123,104,955 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9597:Clec4a2
|
UTSW |
6 |
123,116,291 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9671:Clec4a2
|
UTSW |
6 |
123,101,942 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
X0024:Clec4a2
|
UTSW |
6 |
123,116,040 (GRCm39) |
intron |
probably benign |
|
|
X0025:Clec4a2
|
UTSW |
6 |
123,116,314 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2013-11-05 |
Incidental Mutation