Incidental Mutation 'IGL02159:Clec4a2'
| ID |
282349 |
| 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 # |
IGL02159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
123099627-123119891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 123116285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 150
(S150L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032248]
[ENSMUST00000041779]
[ENSMUST00000161365]
|
| AlphaFold |
Q9QZ15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032248
AA Change: S150L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000032248
Gene: ENSMUSG00000030148
AA Change: S150L
| 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: S126L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000045781
Gene: ENSMUSG00000030148
AA Change: S126L
| 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: S126L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124615
Gene: ENSMUSG00000030148
AA Change: S126L
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,446,527 (GRCm39) |
L257S |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,264,545 (GRCm39) |
S2976G |
probably benign |
Het |
| Afmid |
T |
C |
11: 117,727,252 (GRCm39) |
W267R |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,934,076 (GRCm39) |
K969R |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,571,638 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,644,722 (GRCm39) |
H62R |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,256,793 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
G |
A |
10: 112,039,928 (GRCm39) |
V457M |
probably benign |
Het |
| Capza1 |
T |
C |
3: 104,771,687 (GRCm39) |
D3G |
possibly damaging |
Het |
| Cav1 |
T |
A |
6: 17,307,971 (GRCm39) |
V41E |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,608,988 (GRCm39) |
C264* |
probably null |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,129 (GRCm39) |
D181E |
possibly damaging |
Het |
| Epyc |
A |
G |
10: 97,506,493 (GRCm39) |
E100G |
probably benign |
Het |
| Hdac11 |
A |
G |
6: 91,150,084 (GRCm39) |
I294M |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,150,991 (GRCm39) |
|
probably null |
Het |
| Hsdl1 |
A |
G |
8: 120,293,153 (GRCm39) |
V73A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,516,341 (GRCm39) |
S2501T |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,945,683 (GRCm39) |
F133I |
probably benign |
Het |
| Map3k19 |
C |
A |
1: 127,750,907 (GRCm39) |
G815C |
probably benign |
Het |
| Muc13 |
C |
A |
16: 33,619,849 (GRCm39) |
T199K |
unknown |
Het |
| Nif3l1 |
G |
T |
1: 58,487,105 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,298,175 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,166,113 (GRCm39) |
S244P |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,805,735 (GRCm39) |
N84I |
probably damaging |
Het |
| Parl |
G |
A |
16: 20,098,838 (GRCm39) |
|
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,330,800 (GRCm39) |
I211T |
possibly damaging |
Het |
| Pglyrp4 |
A |
G |
3: 90,638,160 (GRCm39) |
E158G |
possibly damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,271,057 (GRCm39) |
L478P |
probably benign |
Het |
| Prss3b |
T |
C |
6: 41,009,891 (GRCm39) |
T148A |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,820,965 (GRCm39) |
G338R |
probably damaging |
Het |
| Serpina5 |
T |
C |
12: 104,071,557 (GRCm39) |
L388P |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,316,040 (GRCm39) |
V367A |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,247,404 (GRCm39) |
|
probably benign |
Het |
| Surf1 |
A |
G |
2: 26,805,663 (GRCm39) |
L26P |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,580,263 (GRCm39) |
S486P |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,939,281 (GRCm39) |
V589E |
probably damaging |
Het |
| Tuba3b |
T |
G |
6: 145,565,392 (GRCm39) |
S287A |
probably benign |
Het |
| Txnrd3 |
G |
A |
6: 89,646,306 (GRCm39) |
R295H |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 37,991,623 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,896,628 (GRCm39) |
|
probably null |
Het |
| Utp23 |
G |
A |
15: 51,745,761 (GRCm39) |
R87K |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,285,234 (GRCm39) |
I405T |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation