Incidental Mutation 'R1580:Clec5a'
ID 171346
Institutional Source Beutler Lab
Gene Symbol Clec5a
Ensembl Gene ENSMUSG00000029915
Gene Name C-type lectin domain family 5, member a
Synonyms Ly100, myeloid DAP12-associating lectin-1, Clecsf5, MDL-1
MMRRC Submission 039617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R1580 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 40551832-40562739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 40562153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 4 (H4N)
Ref Sequence ENSEMBL: ENSMUSP00000121848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101491] [ENSMUST00000129948] [ENSMUST00000177178]
AlphaFold Q9R007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031975
Predicted Effect probably benign
Transcript: ENSMUST00000101491
AA Change: H4N

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000099030
Gene: ENSMUSG00000029915
AA Change: H4N

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
CLECT 48 161 3.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129948
AA Change: H4N

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121848
Gene: ENSMUSG00000029915
AA Change: H4N

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
internal_repeat_1 29 51 5.12e-5 PROSPERO
CLECT 73 186 3.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177178
AA Change: H4N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000135240
Gene: ENSMUSG00000029915
AA Change: H4N

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
CLECT 48 160 9.02e-18 SMART
Meta Mutation Damage Score 0.1791 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
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 II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to induced arthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Bcl2l13 A G 6: 120,842,675 (GRCm39) I123V probably benign Het
Brms1l A T 12: 55,915,007 (GRCm39) K305N probably damaging Het
Ccdc82 C T 9: 13,252,385 (GRCm39) R226C probably damaging Het
Chst9 T G 18: 15,586,122 (GRCm39) K147T probably benign Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp2a4 T C 7: 26,007,076 (GRCm39) I61T possibly damaging Het
Cyp3a16 T A 5: 145,378,884 (GRCm39) K379I possibly damaging Het
Cyp3a16 T C 5: 145,378,885 (GRCm39) K379E probably damaging Het
Dok2 A G 14: 71,014,397 (GRCm39) D195G probably benign Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mbtps1 C T 8: 120,265,639 (GRCm39) V303I possibly damaging Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or14c43 A G 7: 86,114,658 (GRCm39) E13G probably benign Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G possibly damaging Het
Other mutations in Clec5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Clec5a APN 6 40,559,196 (GRCm39) missense probably benign 0.01
IGL01680:Clec5a APN 6 40,561,314 (GRCm39) missense probably benign 0.01
IGL01701:Clec5a APN 6 40,559,160 (GRCm39) splice site probably benign
IGL02281:Clec5a APN 6 40,561,336 (GRCm39) missense probably benign 0.04
IGL02799:Clec5a UTSW 6 40,554,983 (GRCm39) missense probably damaging 1.00
R1435:Clec5a UTSW 6 40,561,358 (GRCm39) missense probably damaging 1.00
R1752:Clec5a UTSW 6 40,559,187 (GRCm39) missense probably damaging 1.00
R1898:Clec5a UTSW 6 40,558,870 (GRCm39) missense probably benign 0.03
R2022:Clec5a UTSW 6 40,562,128 (GRCm39) missense probably damaging 0.99
R2110:Clec5a UTSW 6 40,562,137 (GRCm39) missense probably damaging 0.96
R4915:Clec5a UTSW 6 40,562,165 (GRCm39) utr 5 prime probably benign
R5697:Clec5a UTSW 6 40,559,204 (GRCm39) missense probably benign 0.00
R5906:Clec5a UTSW 6 40,558,793 (GRCm39) missense probably benign 0.07
R7811:Clec5a UTSW 6 40,558,867 (GRCm39) missense probably damaging 1.00
R8113:Clec5a UTSW 6 40,556,361 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TGTGGAAGAACTTGGGCACTGAAC -3'
(R):5'- TGCTCGCTGCACCGAATATCTTATC -3'

Sequencing Primer
(F):5'- GAACTTGGGCACTGAACCTTTAC -3'
(R):5'- TCTGACATACTTGAGACTGGAGC -3'
Posted On 2014-04-13