Incidental Mutation 'IGL02370:Clec12a'
ID 290883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec12a
Ensembl Gene ENSMUSG00000053063
Gene Name C-type lectin domain family 12, member a
Synonyms Micl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02370
Quality Score
Chromosome 6
Chromosomal Location 129327207-129342266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129331539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 160 (A160V)
Ref Sequence ENSEMBL: ENSMUSP00000063627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065289] [ENSMUST00000151671]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000065289
AA Change: A160V

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063627
Gene: ENSMUSG00000053063
AA Change: A160V

transmembrane domain 43 65 N/A INTRINSIC
CLECT 133 247 1.22e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147106
Predicted Effect probably benign
Transcript: ENSMUST00000151671
AA Change: A160V

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118315
Gene: ENSMUSG00000053063
AA Change: A160V

transmembrane domain 43 65 N/A INTRINSIC
SCOP:d2afpa_ 127 179 6e-8 SMART
Blast:CLECT 136 179 3e-24 BLAST
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 signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperinflammatory responses following challenge with uric acid crystals (monosodium urate) or necrotic cells and after radiation-induced thymocyte killing. Homozygotes for a different null allele show increased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732471J01Rik T C 7: 25,084,313 (GRCm39) probably benign Het
Abra T C 15: 41,732,640 (GRCm39) D142G probably damaging Het
Aldh9a1 A G 1: 167,184,101 (GRCm39) N199D probably damaging Het
Baz2b A T 2: 59,753,933 (GRCm39) I1130N possibly damaging Het
Cacna1s A G 1: 136,013,085 (GRCm39) I312V probably damaging Het
Chrd A G 16: 20,554,541 (GRCm39) M367V possibly damaging Het
Cnnm1 T C 19: 43,460,389 (GRCm39) probably null Het
Cntnap3 A T 13: 64,899,565 (GRCm39) M976K probably benign Het
Cyp27b1 T C 10: 126,886,543 (GRCm39) probably benign Het
Ddx54 T A 5: 120,757,852 (GRCm39) L226Q probably damaging Het
Dnah7a A G 1: 53,674,556 (GRCm39) V407A probably benign Het
Elp4 A G 2: 105,624,937 (GRCm39) S201P probably damaging Het
Exoc3 A T 13: 74,340,880 (GRCm39) V308D probably benign Het
Exosc3 A G 4: 45,319,671 (GRCm39) I117T probably damaging Het
Gbx2 A T 1: 89,856,871 (GRCm39) probably benign Het
Hnf1b A C 11: 83,773,559 (GRCm39) T253P possibly damaging Het
Inhca A G 9: 103,140,273 (GRCm39) V482A probably benign Het
Itih5 A T 2: 10,191,786 (GRCm39) Y107F probably benign Het
Kcnb2 A G 1: 15,781,159 (GRCm39) N677S probably benign Het
Knstrn T A 2: 118,654,269 (GRCm39) probably null Het
Lin9 G T 1: 180,515,583 (GRCm39) C451F probably damaging Het
Mast1 A C 8: 85,638,883 (GRCm39) V1482G probably benign Het
Mroh4 A G 15: 74,497,390 (GRCm39) F144L probably benign Het
Myrf T C 19: 10,191,504 (GRCm39) N945D probably benign Het
Nfrkb G A 9: 31,300,308 (GRCm39) G33D probably benign Het
Or5m9b C A 2: 85,905,132 (GRCm39) T16K probably damaging Het
P2ry13 T C 3: 59,116,886 (GRCm39) I297M probably damaging Het
Pcdhb21 T A 18: 37,647,645 (GRCm39) probably null Het
Pitpnm3 A G 11: 71,942,684 (GRCm39) Y868H probably benign Het
Pou2f3 G A 9: 43,048,643 (GRCm39) R266W probably damaging Het
Rcn3 T C 7: 44,732,757 (GRCm39) S304G probably benign Het
Rinl A G 7: 28,494,397 (GRCm39) probably null Het
Sema5a T C 15: 32,682,445 (GRCm39) probably benign Het
Sipa1l2 A G 8: 126,207,008 (GRCm39) L565P probably damaging Het
Slc5a9 A G 4: 111,734,826 (GRCm39) I656T probably benign Het
Sptan1 A G 2: 29,920,752 (GRCm39) K2404R probably damaging Het
Tars3 C A 7: 65,310,913 (GRCm39) P314Q probably benign Het
Tbc1d14 C T 5: 36,652,562 (GRCm39) V627I possibly damaging Het
Tdpoz8 A G 3: 92,981,354 (GRCm39) D124G possibly damaging Het
Tfcp2 A T 15: 100,410,185 (GRCm39) V394D probably damaging Het
Trerf1 C T 17: 47,625,387 (GRCm39) noncoding transcript Het
Ucp2 A G 7: 100,147,591 (GRCm39) N190S probably damaging Het
Vmn2r124 A G 17: 18,284,453 (GRCm39) Q498R probably benign Het
Yeats2 T A 16: 19,969,221 (GRCm39) I4N probably damaging Het
Zfp574 T G 7: 24,779,014 (GRCm39) I12S possibly damaging Het
Zscan29 T A 2: 120,994,314 (GRCm39) E522V probably benign Het
Other mutations in Clec12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0491:Clec12a UTSW 6 129,341,016 (GRCm39) missense probably benign 0.01
R1551:Clec12a UTSW 6 129,327,384 (GRCm39) start codon destroyed probably damaging 1.00
R1827:Clec12a UTSW 6 129,330,762 (GRCm39) missense probably damaging 1.00
R1828:Clec12a UTSW 6 129,330,762 (GRCm39) missense probably damaging 1.00
R1959:Clec12a UTSW 6 129,327,444 (GRCm39) missense possibly damaging 0.91
R1961:Clec12a UTSW 6 129,327,444 (GRCm39) missense possibly damaging 0.91
R4280:Clec12a UTSW 6 129,340,892 (GRCm39) missense probably damaging 1.00
R4392:Clec12a UTSW 6 129,330,427 (GRCm39) splice site probably benign
R4658:Clec12a UTSW 6 129,331,493 (GRCm39) missense probably damaging 1.00
R4922:Clec12a UTSW 6 129,336,441 (GRCm39) missense probably damaging 1.00
R4959:Clec12a UTSW 6 129,330,628 (GRCm39) missense probably benign 0.10
R4973:Clec12a UTSW 6 129,330,628 (GRCm39) missense probably benign 0.10
R6246:Clec12a UTSW 6 129,330,733 (GRCm39) missense possibly damaging 0.84
R6450:Clec12a UTSW 6 129,330,366 (GRCm39) missense probably damaging 1.00
R7494:Clec12a UTSW 6 129,330,362 (GRCm39) missense possibly damaging 0.53
R8946:Clec12a UTSW 6 129,340,949 (GRCm39) missense possibly damaging 0.70
R9678:Clec12a UTSW 6 129,330,628 (GRCm39) missense probably benign 0.10
Posted On 2015-04-16