Incidental Mutation 'R9597:Clec4a2'
ID |
723334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clec4a2
|
Ensembl Gene |
ENSMUSG00000030148 |
Gene Name |
C-type lectin domain family 4, member a2 |
Synonyms |
dendritic cell immunoreceptor, Clecsf6, DCIR, Dcir1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R9597 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
123099627-123119891 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 123116291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 152
(A152E)
|
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: A152E
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000032248 Gene: ENSMUSG00000030148 AA Change: A152E
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: A128E
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000045781 Gene: ENSMUSG00000030148 AA Change: A128E
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: A128E
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124615 Gene: ENSMUSG00000030148 AA Change: A128E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
CLECT
|
107 |
232 |
1.18e-30 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,578,813 (GRCm39) |
E952G |
possibly damaging |
Het |
Abhd12 |
T |
C |
2: 150,688,198 (GRCm39) |
I170V |
probably benign |
Het |
Ankmy1 |
A |
G |
1: 92,804,773 (GRCm39) |
V840A |
|
Het |
Arhgap18 |
T |
A |
10: 26,788,655 (GRCm39) |
V589D |
probably damaging |
Het |
Armc7 |
A |
G |
11: 115,379,712 (GRCm39) |
T137A |
probably benign |
Het |
Bcl9 |
A |
T |
3: 97,117,323 (GRCm39) |
I457K |
probably benign |
Het |
Ccdc148 |
A |
T |
2: 58,893,397 (GRCm39) |
Y78N |
probably benign |
Het |
Ccdc24 |
A |
G |
4: 117,729,348 (GRCm39) |
V43A |
probably damaging |
Het |
Cep68 |
G |
A |
11: 20,188,506 (GRCm39) |
T633I |
probably benign |
Het |
Cfap157 |
T |
C |
2: 32,669,753 (GRCm39) |
I277V |
probably benign |
Het |
Crocc2 |
G |
T |
1: 93,118,217 (GRCm39) |
C380F |
probably benign |
Het |
Cyp2ab1 |
A |
T |
16: 20,135,340 (GRCm39) |
M54K |
probably benign |
Het |
Fbn1 |
C |
A |
2: 125,187,906 (GRCm39) |
R1541L |
probably benign |
Het |
Fem1c |
G |
T |
18: 46,638,362 (GRCm39) |
L547I |
probably damaging |
Het |
Firrm |
A |
T |
1: 163,804,340 (GRCm39) |
L331Q |
probably null |
Het |
Fras1 |
A |
G |
5: 96,888,551 (GRCm39) |
D2699G |
probably damaging |
Het |
Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
Kcnn2 |
T |
C |
18: 45,816,149 (GRCm39) |
V460A |
probably benign |
Het |
Krt81 |
T |
C |
15: 101,358,919 (GRCm39) |
I278V |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,260,703 (GRCm39) |
E4509D |
probably benign |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Myh2 |
G |
A |
11: 67,064,302 (GRCm39) |
D86N |
possibly damaging |
Het |
Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
Neto1 |
T |
C |
18: 86,422,821 (GRCm39) |
S93P |
possibly damaging |
Het |
Obscn |
G |
T |
11: 59,027,009 (GRCm39) |
R65S |
probably benign |
Het |
Or52e8 |
A |
G |
7: 104,624,413 (GRCm39) |
F264L |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,877,197 (GRCm39) |
T251A |
possibly damaging |
Het |
Pramel15 |
A |
T |
4: 144,103,526 (GRCm39) |
V200E |
probably damaging |
Het |
Prdm14 |
T |
C |
1: 13,192,657 (GRCm39) |
K361E |
possibly damaging |
Het |
Rgs2 |
A |
G |
1: 143,877,826 (GRCm39) |
F125L |
probably damaging |
Het |
Scd2 |
C |
A |
19: 44,288,246 (GRCm39) |
Q213K |
probably damaging |
Het |
Slc23a2 |
C |
A |
2: 131,904,098 (GRCm39) |
R454L |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,812,270 (GRCm39) |
D31G |
unknown |
Het |
Spata7 |
T |
A |
12: 98,600,559 (GRCm39) |
N57K |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,599,897 (GRCm39) |
M1983V |
unknown |
Het |
Srcap |
G |
T |
7: 127,121,219 (GRCm39) |
R184L |
possibly damaging |
Het |
Tafa4 |
A |
G |
6: 96,991,429 (GRCm39) |
W7R |
probably benign |
Het |
Tbpl2 |
A |
G |
2: 23,977,296 (GRCm39) |
S241P |
probably damaging |
Het |
Tcaim |
A |
G |
9: 122,637,830 (GRCm39) |
|
probably null |
Het |
Tep1 |
G |
T |
14: 51,100,465 (GRCm39) |
A351E |
probably damaging |
Het |
Tiparp |
A |
G |
3: 65,438,701 (GRCm39) |
T6A |
probably benign |
Het |
Tmem62 |
T |
C |
2: 120,829,567 (GRCm39) |
F437L |
probably benign |
Het |
Tpp1 |
A |
T |
7: 105,396,714 (GRCm39) |
H434Q |
probably benign |
Het |
Vmn2r17 |
A |
G |
5: 109,575,669 (GRCm39) |
Y180C |
probably damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,904,719 (GRCm39) |
Y373* |
probably null |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TATCTTGGCACCTGAGGGTAAG -3'
(R):5'- AAGCCTTCTGTCACAGCACC -3'
Sequencing Primer
(F):5'- AACTCCTGCTGTATATGGTAGC -3'
(R):5'- TTCTGTCACAGCACCAACAC -3'
|
Posted On |
2022-08-09 |