Incidental Mutation 'IGL01124:Clec4a2'
ID51352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4a2
Ensembl Gene ENSMUSG00000030148
Gene NameC-type lectin domain family 4, member a2
SynonymsDcir1, dendritic cell immunoreceptor, DCIR, Clecsf6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL01124
Quality Score
Status
Chromosome6
Chromosomal Location123106428-123143999 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 123139078 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032248] [ENSMUST00000041779] [ENSMUST00000161365]
Predicted Effect unknown
Transcript: ENSMUST00000032248
AA Change: A108V
SMART Domains Protein: ENSMUSP00000032248
Gene: ENSMUSG00000030148
AA Change: A108V

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 T C 10: 50,732,473 I1477T probably damaging Het
Baat A G 4: 49,490,391 I231T possibly damaging Het
Cactin T C 10: 81,324,350 S426P possibly damaging Het
Cfh A T 1: 140,183,261 F6I probably benign Het
Col12a1 A G 9: 79,703,847 S148P probably damaging Het
Cubn G T 2: 13,478,093 Q281K possibly damaging Het
Cyp2c65 T A 19: 39,093,510 probably benign Het
Dennd4b A T 3: 90,269,074 T243S possibly damaging Het
Epha8 C T 4: 136,936,083 G518D probably damaging Het
Fmo3 G A 1: 162,958,261 R387C probably damaging Het
Foxo6 T C 4: 120,269,152 T149A probably benign Het
Fthl17d T C X: 8,986,588 E3G probably benign Het
Gm10521 A G 1: 171,896,443 Y107C unknown Het
Ipo8 T A 6: 148,777,376 E908V probably benign Het
Kcnd2 T C 6: 21,217,217 S307P probably damaging Het
Klf3 A G 5: 64,816,780 M3V possibly damaging Het
Ldb3 T A 14: 34,544,200 E417D probably damaging Het
Lrch1 A T 14: 74,757,063 D673E probably benign Het
Map3k4 T C 17: 12,255,200 K865E probably benign Het
Muc4 G A 16: 32,768,730 V754I possibly damaging Het
Nek4 A G 14: 30,970,262 N223D probably benign Het
Nell2 G A 15: 95,296,179 T551M probably damaging Het
Nup155 T A 15: 8,153,679 M1241K probably damaging Het
Olfr152 T C 2: 87,783,376 F279L probably benign Het
Olfr331 A T 11: 58,502,194 S121T possibly damaging Het
Orc1 T C 4: 108,588,787 probably benign Het
Pclo T C 5: 14,714,329 I4272T unknown Het
Ppp1r12c A G 7: 4,497,345 probably benign Het
Prcp A G 7: 92,910,208 E160G probably benign Het
Prl3d3 G A 13: 27,159,107 R92Q possibly damaging Het
Prl6a1 T A 13: 27,316,364 M106K possibly damaging Het
Slc22a1 T A 17: 12,650,862 probably benign Het
Slco3a1 A G 7: 74,284,547 Y626H probably damaging Het
Smtn A G 11: 3,526,326 probably null Het
Snx30 T C 4: 59,886,404 probably benign Het
Spock2 A G 10: 60,131,387 D393G unknown Het
Trem3 T G 17: 48,249,801 L100R probably damaging Het
Trpm2 A T 10: 77,945,825 probably benign Het
Ubr1 T C 2: 120,914,905 M901V probably benign Het
Usp28 T A 9: 49,037,213 S873T probably damaging Het
Vmn1r86 T C 7: 13,102,929 I7V probably benign Het
Xirp2 T C 2: 67,508,615 L400P probably damaging Het
Other mutations in Clec4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Clec4a2 APN 6 123127988 missense probably damaging 1.00
IGL01481:Clec4a2 APN 6 123142500 missense probably benign 0.30
IGL02159:Clec4a2 APN 6 123139326 missense probably benign 0.04
IGL02436:Clec4a2 APN 6 123140678 missense possibly damaging 0.79
IGL03140:Clec4a2 APN 6 123140776 splice site probably benign
R0485:Clec4a2 UTSW 6 123123629 missense probably damaging 0.99
R1852:Clec4a2 UTSW 6 123139125 nonsense probably null
R3431:Clec4a2 UTSW 6 123139411 splice site probably null
R4436:Clec4a2 UTSW 6 123128054 critical splice donor site probably null
R4524:Clec4a2 UTSW 6 123125084 missense probably damaging 1.00
R4736:Clec4a2 UTSW 6 123140663 missense probably damaging 1.00
R4740:Clec4a2 UTSW 6 123140663 missense probably damaging 1.00
R4908:Clec4a2 UTSW 6 123142503 missense probably damaging 1.00
R6516:Clec4a2 UTSW 6 123139406 missense probably damaging 1.00
R7394:Clec4a2 UTSW 6 123139120 missense unknown
R7454:Clec4a2 UTSW 6 123142452 missense probably damaging 0.98
X0024:Clec4a2 UTSW 6 123139081 intron probably benign
X0025:Clec4a2 UTSW 6 123139355 missense probably benign 0.21
Posted On2013-06-21