Incidental Mutation 'IGL03181:Clec4n'
ID 412223
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4n
Ensembl Gene ENSMUSG00000023349
Gene Name C-type lectin domain family 4, member n
Synonyms Clecsf10, Nkcl, dectin-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03181
Quality Score
Status
Chromosome 6
Chromosomal Location 123206802-123223980 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123207474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 13 (C13R)
Ref Sequence ENSEMBL: ENSMUSP00000108173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024118] [ENSMUST00000112554] [ENSMUST00000117130] [ENSMUST00000151714] [ENSMUST00000205129]
AlphaFold Q9JKF4
Predicted Effect possibly damaging
Transcript: ENSMUST00000024118
AA Change: C13R

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024118
Gene: ENSMUSG00000023349
AA Change: C13R

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
CLECT 79 203 5.89e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112554
AA Change: C13R

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108173
Gene: ENSMUSG00000023349
AA Change: C13R

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
CLECT 45 169 5.89e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117130
SMART Domains Protein: ENSMUSP00000113733
Gene: ENSMUSG00000023349

DomainStartEndE-ValueType
CLECT 49 173 5.89e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144840
Predicted Effect possibly damaging
Transcript: ENSMUST00000151714
AA Change: C13R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120043
Gene: ENSMUSG00000023349
AA Change: C13R

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000205129
AA Change: C13R

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145023
Gene: ENSMUSG00000023349
AA Change: C13R

DomainStartEndE-ValueType
Blast:CLECT 26 72 3e-13 BLAST
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging 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
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
R9127:Clec4n UTSW 6 123,212,447 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02