Incidental Mutation 'R9127:Clec4n'
ID 693323
Institutional Source Beutler Lab
Gene Symbol Clec4n
Ensembl Gene ENSMUSG00000023349
Gene Name C-type lectin domain family 4, member n
Synonyms Clecsf10, Nkcl, dectin-2
MMRRC Submission 068926-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9127 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 123206802-123223980 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 123212447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 88 (S88A)
Ref Sequence ENSEMBL: ENSMUSP00000024118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024118] [ENSMUST00000112554] [ENSMUST00000117130] [ENSMUST00000151714] [ENSMUST00000205129]
AlphaFold Q9JKF4
Predicted Effect probably damaging
Transcript: ENSMUST00000024118
AA Change: S88A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024118
Gene: ENSMUSG00000023349
AA Change: S88A

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
CLECT 79 203 5.89e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112554
AA Change: S54A

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108173
Gene: ENSMUSG00000023349
AA Change: S54A

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
CLECT 45 169 5.89e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117130
AA Change: S58A

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113733
Gene: ENSMUSG00000023349
AA Change: S58A

DomainStartEndE-ValueType
CLECT 49 173 5.89e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151714
SMART Domains Protein: ENSMUSP00000120043
Gene: ENSMUSG00000023349

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205129
SMART Domains Protein: ENSMUSP00000145023
Gene: ENSMUSG00000023349

DomainStartEndE-ValueType
Blast:CLECT 26 72 3e-13 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (82/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele have defective responses to Candida albicans. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,242,080 (GRCm39) D1314E probably benign Het
Abcb1a A T 5: 8,724,707 (GRCm39) R47W probably benign Het
Abcc6 T C 7: 45,629,184 (GRCm39) N1354S probably damaging Het
Abracl T C 10: 17,887,444 (GRCm39) Y61C probably damaging Het
Adamtsl1 A G 4: 86,208,027 (GRCm39) T633A probably benign Het
Agap3 G A 5: 24,681,439 (GRCm39) probably benign Het
Ago4 A T 4: 126,400,904 (GRCm39) M647K probably damaging Het
Akap7 G T 10: 25,155,676 (GRCm39) S72R unknown Het
Arhgef12 A G 9: 42,885,870 (GRCm39) L1251S possibly damaging Het
Astn2 A T 4: 66,322,164 (GRCm39) V145E unknown Het
Atxn2l A T 7: 126,097,393 (GRCm39) S304R probably damaging Het
Cd226 A T 18: 89,287,155 (GRCm39) I318F probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cfap65 A T 1: 74,958,510 (GRCm39) probably benign Het
Cfap96 T G 8: 46,415,403 (GRCm39) D201A probably benign Het
Chtf8 A G 8: 107,613,640 (GRCm39) V18A probably benign Het
Cit G T 5: 116,074,896 (GRCm39) E683* probably null Het
Ckmt2 T C 13: 92,007,337 (GRCm39) R286G probably damaging Het
Clec4a2 T A 6: 123,116,218 (GRCm39) W128R probably damaging Het
Cndp2 G A 18: 84,699,121 (GRCm39) A48V probably benign Het
Csmd1 T C 8: 16,273,286 (GRCm39) T849A probably benign Het
Cts3 A T 13: 61,715,235 (GRCm39) Y199* probably null Het
Dag1 A T 9: 108,085,734 (GRCm39) L469* probably null Het
Dclre1c T C 2: 3,439,125 (GRCm39) V225A Het
Dedd A G 1: 171,166,409 (GRCm39) D115G probably damaging Het
Efcab3 T A 11: 104,741,407 (GRCm39) V2166D probably benign Het
Eif2ak3 T A 6: 70,860,704 (GRCm39) W427R probably damaging Het
Fbln2 T A 6: 91,210,473 (GRCm39) V139D probably damaging Het
Fbn1 A T 2: 125,223,985 (GRCm39) M588K possibly damaging Het
Gm17019 A T 5: 15,081,113 (GRCm39) Y109* probably null Het
Gm32742 T A 9: 51,056,015 (GRCm39) N1255Y probably damaging Het
Gm5431 T A 11: 48,779,600 (GRCm39) K441* probably null Het
Golga2 A G 2: 32,196,079 (GRCm39) D898G Het
Gramd4 G A 15: 85,975,525 (GRCm39) R39H probably benign Het
Gucy1a2 A G 9: 3,634,553 (GRCm39) N199S probably damaging Het
Heyl G A 4: 123,139,885 (GRCm39) R148H probably damaging Het
Ifi208 A T 1: 173,523,400 (GRCm39) M557L probably benign Het
Igf2r A G 17: 12,958,238 (GRCm39) V145A probably damaging Het
Ighv1-4 A T 12: 114,450,879 (GRCm39) Y76* probably null Het
Ikzf4 T C 10: 128,468,487 (GRCm39) D664G unknown Het
Il1a T A 2: 129,146,715 (GRCm39) Y126F possibly damaging Het
Lmf2 C A 15: 89,239,771 (GRCm39) probably benign Het
Lyst T C 13: 13,808,827 (GRCm39) S166P probably damaging Het
Mgat5 A C 1: 127,294,197 (GRCm39) T180P probably benign Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mov10 G T 3: 104,711,659 (GRCm39) Y209* probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Numa1 T A 7: 101,641,869 (GRCm39) S106T possibly damaging Het
Or1e1d-ps1 A T 11: 73,819,167 (GRCm39) E39V probably damaging Het
Or4c124 G A 2: 89,156,474 (GRCm39) Q17* probably null Het
Or5b107 A G 19: 13,142,396 (GRCm39) N6S probably damaging Het
Or7g27 A G 9: 19,250,026 (GRCm39) H90R probably benign Het
Pcdhb14 A G 18: 37,582,091 (GRCm39) N399S probably damaging Het
Plcl2 T A 17: 50,918,032 (GRCm39) S944T probably benign Het
Pml A T 9: 58,127,660 (GRCm39) I695N probably benign Het
Ppard G T 17: 28,505,349 (GRCm39) R12L unknown Het
Ppip5k1 C T 2: 121,158,125 (GRCm39) probably null Het
Ppp1r3g T C 13: 36,152,621 (GRCm39) S14P probably benign Het
Pramel55 A G 5: 95,951,623 (GRCm39) Y470C probably damaging Het
Prrc2b C A 2: 32,103,764 (GRCm39) R1081S probably damaging Het
Rasgrp2 A T 19: 6,454,438 (GRCm39) E160D possibly damaging Het
Rb1cc1 G A 1: 6,333,073 (GRCm39) V1331I probably damaging Het
Rnd3 A T 2: 51,022,413 (GRCm39) S210T probably benign Het
Scaf11 T C 15: 96,312,764 (GRCm39) T1426A probably benign Het
Sin3b C T 8: 73,460,034 (GRCm39) T207I possibly damaging Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc28a3 C T 13: 58,724,581 (GRCm39) M224I probably benign Het
Slc30a1 T C 1: 191,639,342 (GRCm39) I75T probably damaging Het
Slc6a21 T A 7: 44,929,674 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,945,243 (GRCm39) L206Q probably damaging Het
Spata31d1e A G 13: 59,890,828 (GRCm39) S331P probably benign Het
Sptbn1 A G 11: 30,104,356 (GRCm39) V116A probably damaging Het
Syngap1 G A 17: 27,181,095 (GRCm39) D1008N probably damaging Het
Syt11 T C 3: 88,669,643 (GRCm39) D83G probably benign Het
Syt14 G A 1: 192,584,131 (GRCm39) T428I probably damaging Het
Taf15 T A 11: 83,395,085 (GRCm39) Y338* probably null Het
Tfap4 A T 16: 4,365,183 (GRCm39) M253K possibly damaging Het
Tnr T C 1: 159,713,680 (GRCm39) S703P possibly damaging Het
Trrap G A 5: 144,767,830 (GRCm39) D2577N probably benign Het
Uqcc6 A T 10: 82,458,588 (GRCm39) M21K probably benign Het
Wdr20 C T 12: 110,759,597 (GRCm39) S161L possibly damaging Het
Zfp503 C A 14: 22,037,418 (GRCm39) V62L probably benign Het
Other mutations in Clec4n
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Clec4n APN 6 123,221,433 (GRCm39) intron probably benign
IGL02248:Clec4n APN 6 123,207,527 (GRCm39) missense probably damaging 0.99
IGL03181:Clec4n APN 6 123,207,474 (GRCm39) missense possibly damaging 0.90
IGL03293:Clec4n APN 6 123,209,105 (GRCm39) missense probably benign 0.10
P4717OSA:Clec4n UTSW 6 123,221,499 (GRCm39) missense probably damaging 0.97
P4748:Clec4n UTSW 6 123,221,499 (GRCm39) missense probably damaging 0.97
R1137:Clec4n UTSW 6 123,223,526 (GRCm39) missense possibly damaging 0.80
R1445:Clec4n UTSW 6 123,212,475 (GRCm39) missense probably benign 0.01
R1538:Clec4n UTSW 6 123,206,992 (GRCm39) missense possibly damaging 0.66
R1804:Clec4n UTSW 6 123,206,981 (GRCm39) missense possibly damaging 0.46
R1960:Clec4n UTSW 6 123,207,505 (GRCm39) missense probably damaging 0.99
R2046:Clec4n UTSW 6 123,223,463 (GRCm39) missense probably benign 0.00
R4097:Clec4n UTSW 6 123,207,700 (GRCm39) missense possibly damaging 0.66
R4657:Clec4n UTSW 6 123,209,155 (GRCm39) critical splice donor site probably null
R4967:Clec4n UTSW 6 123,209,066 (GRCm39) missense probably benign 0.41
R5471:Clec4n UTSW 6 123,209,145 (GRCm39) missense probably benign 0.06
R6703:Clec4n UTSW 6 123,212,553 (GRCm39) missense probably null 1.00
R7411:Clec4n UTSW 6 123,209,145 (GRCm39) missense probably benign 0.06
R7877:Clec4n UTSW 6 123,209,063 (GRCm39) missense probably benign 0.02
R9259:Clec4n UTSW 6 123,212,424 (GRCm39) missense probably damaging 1.00
R9375:Clec4n UTSW 6 123,207,662 (GRCm39) missense probably benign 0.27
R9454:Clec4n UTSW 6 123,212,532 (GRCm39) missense possibly damaging 0.93
R9471:Clec4n UTSW 6 123,221,505 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- TCAATATAAGTTCCCTGGCCCC -3'
(R):5'- AGGGGCTTTTCTACAATGGG -3'

Sequencing Primer
(F):5'- GTTCCCTGGCCCCAAATTATTTATTC -3'
(R):5'- GGCTTTTCTACAATGGGATGAAC -3'
Posted On 2022-01-20