Incidental Mutation 'R9471:Clec4n'
ID 715462
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9471 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 123206802-123223980 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123221505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 146 (N146K)
Ref Sequence ENSEMBL: ENSMUSP00000024118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024118] [ENSMUST00000112554] [ENSMUST00000117130] [ENSMUST00000151714] [ENSMUST00000205129]
AlphaFold Q9JKF4
Predicted Effect probably benign
Transcript: ENSMUST00000024118
AA Change: N146K

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024118
Gene: ENSMUSG00000023349
AA Change: N146K

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
CLECT 79 203 5.89e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112554
AA Change: N112K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108173
Gene: ENSMUSG00000023349
AA Change: N112K

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
CLECT 45 169 5.89e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117130
AA Change: N116K

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113733
Gene: ENSMUSG00000023349
AA Change: N116K

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,319 (GRCm39) K368E probably damaging Het
Adgrl2 T C 3: 148,558,365 (GRCm39) T448A probably benign Het
Aff4 C T 11: 53,271,473 (GRCm39) P337S probably benign Het
Alg12 G A 15: 88,690,621 (GRCm39) Q406* probably null Het
Anapc5 T C 5: 122,944,308 (GRCm39) Y302C probably damaging Het
Apol7a A G 15: 77,273,680 (GRCm39) S261P possibly damaging Het
Atad5 G T 11: 80,023,524 (GRCm39) K1545N possibly damaging Het
Atp6v1f T A 6: 29,467,941 (GRCm39) D42E probably benign Het
Bcl6 T A 16: 23,791,857 (GRCm39) N166Y probably benign Het
Btbd7 C T 12: 102,760,145 (GRCm39) R601Q probably damaging Het
Casp1 A G 9: 5,304,187 (GRCm39) E287G probably benign Het
Cd300c A T 11: 114,847,216 (GRCm39) V193E probably damaging Het
Cd300lg T A 11: 101,944,920 (GRCm39) S377T probably benign Het
Ceacam13 T A 7: 17,753,012 (GRCm39) *264R probably null Het
Clasrp G A 7: 19,319,172 (GRCm39) R498* probably null Het
Cntln T A 4: 84,968,019 (GRCm39) V746E possibly damaging Het
Defa29 T C 8: 21,816,901 (GRCm39) T31A possibly damaging Het
Egr4 A G 6: 85,489,695 (GRCm39) S122P possibly damaging Het
Fam221a T G 6: 49,349,520 (GRCm39) D28E probably damaging Het
Fanca G A 8: 124,000,897 (GRCm39) T1161I possibly damaging Het
Fcsk T C 8: 111,610,041 (GRCm39) E991G probably benign Het
Frat2 A G 19: 41,836,113 (GRCm39) S80P probably benign Het
Gse1 C A 8: 121,301,845 (GRCm39) S985R unknown Het
H2-M3 T A 17: 37,581,988 (GRCm39) I148N probably damaging Het
Hs6st3 G T 14: 119,376,235 (GRCm39) V137L probably damaging Het
Ighv1-42 T A 12: 114,900,927 (GRCm39) M53L probably benign Het
Klhl24 C T 16: 19,941,735 (GRCm39) T561I Het
Klhl26 C G 8: 70,904,803 (GRCm39) G369A probably damaging Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lrrd1 A T 5: 3,913,980 (GRCm39) D750V Het
Mc5r A G 18: 68,472,127 (GRCm39) D162G probably damaging Het
Mrc2 T A 11: 105,234,559 (GRCm39) S1026R probably benign Het
Nf1 A G 11: 79,436,195 (GRCm39) H1945R probably damaging Het
Nr4a2 A G 2: 57,002,114 (GRCm39) M113T probably benign Het
Obox2 G A 7: 15,131,113 (GRCm39) G73D probably damaging Het
Or1af1 G A 2: 37,110,400 (GRCm39) A300T probably damaging Het
Or2t48 A T 11: 58,420,355 (GRCm39) C152* probably null Het
Pappa2 C T 1: 158,642,029 (GRCm39) M1342I probably benign Het
Pla2g6 A T 15: 79,202,039 (GRCm39) L44Q probably damaging Het
Pnpla1 A T 17: 29,099,973 (GRCm39) Q280L probably benign Het
Pramel23 T A 4: 143,423,749 (GRCm39) T347S probably damaging Het
Prdm1 C T 10: 44,326,174 (GRCm39) G117S probably damaging Het
Prss36 A T 7: 127,545,605 (GRCm39) F6I probably benign Het
Sat2 A G 11: 69,513,725 (GRCm39) Y81C probably damaging Het
Sbspon T C 1: 15,962,677 (GRCm39) D67G probably benign Het
Shank2 G A 7: 143,964,752 (GRCm39) V787M possibly damaging Het
Stoml1 A T 9: 58,163,968 (GRCm39) I96F probably damaging Het
Tet2 C T 3: 133,191,680 (GRCm39) G918D probably damaging Het
Tgm4 A G 9: 122,869,444 (GRCm39) I8V probably benign Het
Tmem156 C T 5: 65,237,531 (GRCm39) R43K probably damaging Het
Trim44 T C 2: 102,230,651 (GRCm39) S127G unknown Het
Ttn C T 2: 76,598,846 (GRCm39) V19356M probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r67 A C 7: 84,799,723 (GRCm39) probably null Het
Wdr90 C A 17: 26,080,015 (GRCm39) V107L possibly damaging Het
Zfp316 T C 5: 143,241,161 (GRCm39) D286G unknown Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zscan18 T C 7: 12,508,343 (GRCm39) T386A possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTATGGGTTCCAATGACCTTTCC -3'
(R):5'- TCAGGTAGACACTGAGTAAATGAAC -3'

Sequencing Primer
(F):5'- GGGTTCCAATGACCTTTCCTTTCAC -3'
(R):5'- CAGCTGGCAAATTTTCCC -3'
Posted On 2022-06-15