Incidental Mutation 'R0491:Clec12a'
ID 42466
Institutional Source Beutler Lab
Gene Symbol Clec12a
Ensembl Gene ENSMUSG00000053063
Gene Name C-type lectin domain family 12, member a
Synonyms Micl
MMRRC Submission 038689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R0491 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 129327207-129342266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129341016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 265 (D265E)
Ref Sequence ENSEMBL: ENSMUSP00000063627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065289] [ENSMUST00000151671]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065289
AA Change: D265E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000063627
Gene: ENSMUSG00000053063
AA Change: D265E

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
CLECT 133 247 1.22e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133756
Predicted Effect probably benign
Transcript: ENSMUST00000151671
SMART Domains Protein: ENSMUSP00000118315
Gene: ENSMUSG00000053063

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
SCOP:d2afpa_ 127 179 6e-8 SMART
Blast:CLECT 136 179 3e-24 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (65/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,248,235 (GRCm39) F2661L probably benign Het
Acadsb A G 7: 131,031,836 (GRCm39) D224G probably benign Het
Acsm1 A G 7: 119,239,920 (GRCm39) H288R probably damaging Het
Adamts2 A G 11: 50,667,457 (GRCm39) D465G probably damaging Het
Akap9 A T 5: 4,022,851 (GRCm39) probably benign Het
Alms1 A G 6: 85,679,582 (GRCm39) T3240A probably damaging Het
Ap3d1 A G 10: 80,555,075 (GRCm39) W417R probably damaging Het
Arfgef1 C A 1: 10,250,212 (GRCm39) probably benign Het
Atf6 A G 1: 170,614,913 (GRCm39) probably null Het
Cacna1s T A 1: 136,016,746 (GRCm39) probably benign Het
Clcn1 T C 6: 42,287,515 (GRCm39) F740L probably benign Het
Clic3 T A 2: 25,347,797 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,909,859 (GRCm39) T749P probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Cplane1 T A 15: 8,211,727 (GRCm39) S356T probably damaging Het
Crxos T A 7: 15,632,460 (GRCm39) S89T probably benign Het
Cxcr1 G T 1: 74,231,468 (GRCm39) P185T possibly damaging Het
Cyp20a1 T A 1: 60,410,486 (GRCm39) N262K possibly damaging Het
Dennd2b T A 7: 109,156,411 (GRCm39) Q113L probably benign Het
Dpy19l2 T C 9: 24,607,324 (GRCm39) R46G probably benign Het
Dpysl2 A T 14: 67,045,411 (GRCm39) L454Q probably damaging Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Eppin T A 2: 164,431,332 (GRCm39) E98V possibly damaging Het
Fancm A T 12: 65,152,835 (GRCm39) H1097L probably benign Het
Fkbp4 A G 6: 128,412,705 (GRCm39) I75T probably damaging Het
Fmn2 A G 1: 174,409,525 (GRCm39) H586R unknown Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Haus6 A C 4: 86,521,083 (GRCm39) V185G possibly damaging Het
Herc2 T A 7: 55,772,114 (GRCm39) C1098S possibly damaging Het
Hic1 C A 11: 75,057,136 (GRCm39) L584F possibly damaging Het
Itgb1bp1 C A 12: 21,326,896 (GRCm39) probably benign Het
Kbtbd2 G A 6: 56,757,374 (GRCm39) R121* probably null Het
Lgr4 C T 2: 109,837,626 (GRCm39) probably benign Het
Lrrc55 T C 2: 85,022,264 (GRCm39) E309G probably damaging Het
Mertk T C 2: 128,635,027 (GRCm39) probably null Het
Micu3 A G 8: 40,819,294 (GRCm39) probably benign Het
Mmp11 G A 10: 75,762,592 (GRCm39) A287V probably benign Het
Mpzl2 A G 9: 44,954,039 (GRCm39) Y47C probably damaging Het
Muc5b A C 7: 141,415,752 (GRCm39) R2899S probably benign Het
Myo1b A G 1: 51,794,857 (GRCm39) Y1078H probably benign Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Ncapd3 T G 9: 26,969,179 (GRCm39) V611G probably damaging Het
Ntpcr C T 8: 126,464,093 (GRCm39) R73* probably null Het
Or4c120 A T 2: 89,000,704 (GRCm39) V284E probably benign Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Osbp2 A G 11: 3,664,709 (GRCm39) F88S probably damaging Het
Pkn3 A T 2: 29,979,889 (GRCm39) T711S probably damaging Het
Plekhm1 T C 11: 103,285,602 (GRCm39) K278E probably benign Het
Ppp1r36 A G 12: 76,486,065 (GRCm39) T408A probably benign Het
Prss41 T C 17: 24,061,477 (GRCm39) T105A possibly damaging Het
Psme1 G T 14: 55,817,378 (GRCm39) probably benign Het
Ptprq A T 10: 107,444,036 (GRCm39) Y1523N probably damaging Het
Ric8b A G 10: 84,828,086 (GRCm39) D470G probably damaging Het
Scarb1 A G 5: 125,375,795 (GRCm39) probably benign Het
Slc25a54 G A 3: 109,010,112 (GRCm39) A204T probably damaging Het
Spink10 T C 18: 62,793,036 (GRCm39) C67R probably damaging Het
Tmtc1 A T 6: 148,314,138 (GRCm39) probably null Het
Tprkb A G 6: 85,901,446 (GRCm39) D28G probably benign Het
Ttll13 A G 7: 79,910,098 (GRCm39) H747R probably benign Het
Usp24 A G 4: 106,259,302 (GRCm39) S1608G probably benign Het
Utp20 A T 10: 88,596,774 (GRCm39) F2115L probably damaging Het
Vmn1r200 A T 13: 22,579,361 (GRCm39) I46L probably benign Het
Zdhhc8 A T 16: 18,046,254 (GRCm39) M103K probably damaging Het
Zfp595 C T 13: 67,465,369 (GRCm39) G298E probably damaging Het
Zfp738 T G 13: 67,818,140 (GRCm39) H617P possibly damaging Het
Zfp9 A T 6: 118,442,163 (GRCm39) H166Q probably damaging Het
Zp3r C A 1: 130,546,071 (GRCm39) D80Y probably damaging Het
Other mutations in Clec12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02370:Clec12a APN 6 129,331,539 (GRCm39) missense possibly damaging 0.58
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
Predicted Primers PCR Primer
(F):5'- GGCTACGTCTGGAATCAAATGACAGAAA -3'
(R):5'- ACTGCCTACAGTTCTTCTGAGTGACA -3'

Sequencing Primer
(F):5'- CACATATTCTTACCCATCATCAACTG -3'
(R):5'- tgtggtgaggaggatagcag -3'
Posted On 2013-05-23