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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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