Incidental Mutation 'IGL03140:Clec4a2'
ID |
410682 |
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 # |
IGL03140
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
123099627-123119891 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 123117735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032248]
[ENSMUST00000041779]
[ENSMUST00000161365]
|
AlphaFold |
Q9QZ15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032248
|
SMART Domains |
Protein: ENSMUSP00000032248 Gene: ENSMUSG00000030148
Domain | Start | End | E-Value | Type |
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
CLECT
|
131 |
256 |
1.18e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041779
|
SMART Domains |
Protein: ENSMUSP00000045781 Gene: ENSMUSG00000030148
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: ENSMUST00000161365
|
SMART Domains |
Protein: ENSMUSP00000124615 Gene: ENSMUSG00000030148
Domain | Start | End | E-Value | Type |
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
CLECT
|
107 |
232 |
1.18e-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.] 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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
G |
A |
19: 8,982,576 (GRCm39) |
|
probably benign |
Het |
Cd48 |
T |
C |
1: 171,523,451 (GRCm39) |
V98A |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,768,856 (GRCm39) |
R2485S |
possibly damaging |
Het |
Ddx21 |
A |
G |
10: 62,429,850 (GRCm39) |
L298S |
probably damaging |
Het |
Efl1 |
A |
G |
7: 82,342,089 (GRCm39) |
E499G |
probably benign |
Het |
Fry |
A |
G |
5: 150,419,166 (GRCm39) |
N2870S |
probably damaging |
Het |
Ints8 |
G |
A |
4: 11,235,565 (GRCm39) |
P355S |
probably damaging |
Het |
Kmo |
T |
A |
1: 175,476,786 (GRCm39) |
V200D |
probably damaging |
Het |
Ldlrad4 |
A |
G |
18: 68,387,585 (GRCm39) |
D299G |
probably damaging |
Het |
Mus81 |
T |
C |
19: 5,533,984 (GRCm39) |
T416A |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,507,400 (GRCm39) |
S889P |
probably benign |
Het |
Nlrp9c |
T |
A |
7: 26,079,914 (GRCm39) |
D704V |
probably benign |
Het |
Olfml2a |
A |
G |
2: 38,837,303 (GRCm39) |
K149E |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,887,222 (GRCm39) |
D206G |
probably damaging |
Het |
Pcdhb3 |
T |
G |
18: 37,434,272 (GRCm39) |
H79Q |
probably benign |
Het |
Pira13 |
T |
C |
7: 3,826,247 (GRCm39) |
N249D |
probably benign |
Het |
Rnf19b |
T |
A |
4: 128,977,889 (GRCm39) |
V701D |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,444,020 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
G |
2: 69,800,533 (GRCm39) |
Y952C |
probably damaging |
Het |
Vmn1r205 |
T |
C |
13: 22,776,746 (GRCm39) |
I119V |
possibly damaging |
Het |
Zfhx4 |
T |
G |
3: 5,307,585 (GRCm39) |
D270E |
probably damaging |
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 |
|
IGL01384:Clec4a2
|
APN |
6 |
123,104,947 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |