Incidental Mutation 'IGL02436:Clec4a2'
| ID |
293267 |
| 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: 0.057)
|
| Stock # |
IGL02436
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
123099627-123119891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123117637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 185
(D185G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032248]
[ENSMUST00000041779]
[ENSMUST00000161365]
|
| AlphaFold |
Q9QZ15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032248
AA Change: D185G
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032248
Gene: ENSMUSG00000030148
AA Change: D185G
| 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
AA Change: D161G
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000045781
Gene: ENSMUSG00000030148
AA Change: D161G
| 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
AA Change: D161G
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124615
Gene: ENSMUSG00000030148
AA Change: D161G
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Carm1 |
A |
T |
9: 21,490,758 (GRCm39) |
R209W |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,056,602 (GRCm39) |
S524P |
probably benign |
Het |
| Gm17175 |
A |
T |
14: 51,807,108 (GRCm39) |
|
probably benign |
Het |
| Hdx |
A |
T |
X: 110,510,445 (GRCm39) |
D512E |
probably damaging |
Het |
| Hs6st2 |
T |
G |
X: 50,768,891 (GRCm39) |
T275P |
possibly damaging |
Het |
| Hus1 |
T |
C |
11: 8,956,057 (GRCm39) |
I159V |
possibly damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,389,003 (GRCm39) |
T2141A |
unknown |
Het |
| Ncoa7 |
A |
T |
10: 30,570,143 (GRCm39) |
I272N |
probably damaging |
Het |
| Or10ad1b |
G |
T |
15: 98,125,171 (GRCm39) |
C118* |
probably null |
Het |
| P3h2 |
T |
C |
16: 25,815,950 (GRCm39) |
K188E |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,542,072 (GRCm39) |
|
probably null |
Het |
| Pramel13 |
G |
T |
4: 144,119,539 (GRCm39) |
P343T |
possibly damaging |
Het |
| Scn1a |
G |
A |
2: 66,181,497 (GRCm39) |
P9S |
probably benign |
Het |
| Slc7a9 |
C |
A |
7: 35,156,478 (GRCm39) |
L307I |
probably benign |
Het |
| Srebf2 |
G |
A |
15: 82,081,928 (GRCm39) |
G87S |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tent5c |
C |
A |
3: 100,379,823 (GRCm39) |
R311L |
probably benign |
Het |
| Tex30 |
T |
C |
1: 44,127,665 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
A |
5: 104,669,021 (GRCm39) |
I1181K |
probably benign |
Het |
| Tnrc6a |
C |
T |
7: 122,783,438 (GRCm39) |
R970* |
probably null |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation