Incidental Mutation 'IGL02411:Clec1b'
ID292306
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec1b
Ensembl Gene ENSMUSG00000030159
Gene NameC-type lectin domain family 1, member b
SynonymsClec2, Clec-2, 1810061I13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.033) question?
Stock #IGL02411
Quality Score
Status
Chromosome6
Chromosomal Location129397297-129409335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129401841 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 129 (Y129C)
Ref Sequence ENSEMBL: ENSMUSP00000107712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032262] [ENSMUST00000112079] [ENSMUST00000112081]
Predicted Effect probably damaging
Transcript: ENSMUST00000032262
AA Change: Y129C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032262
Gene: ENSMUSG00000030159
AA Change: Y129C

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
CLECT 102 217 1.59e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112079
Predicted Effect probably damaging
Transcript: ENSMUST00000112081
AA Change: Y97C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107712
Gene: ENSMUSG00000030159
AA Change: Y97C

DomainStartEndE-ValueType
CLECT 70 185 1.59e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133061
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit congestion and hemorrhages during embryogenesis with prenatal and postnatal lethality. Mice homozygous for another knock-out allele exhibit blood-lymph mixing, impaired PDPN-Fc-mediated platelet activation, and intestinal edema. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,116 E65G probably benign Het
Abcc8 G A 7: 46,107,007 R1425C probably damaging Het
Adcy3 A T 12: 4,209,407 N895Y probably null Het
AI661453 T G 17: 47,467,338 L663R probably benign Het
Arhgef10 A T 8: 14,954,819 Y445F probably benign Het
Atrx G T X: 105,830,981 S1924R possibly damaging Het
Clca1 T C 3: 145,028,002 T58A possibly damaging Het
Cobll1 A G 2: 65,097,740 S1080P probably damaging Het
Crb1 C A 1: 139,248,475 C590F probably damaging Het
Crim1 C T 17: 78,335,334 R494* probably null Het
Cyp3a25 A T 5: 146,001,447 probably benign Het
Dntt T A 19: 41,052,985 probably null Het
Gjb1 T C X: 101,385,005 C280R probably damaging Het
Glp1r T A 17: 30,924,511 C174S probably damaging Het
Gm5414 A T 15: 101,627,834 Y119N probably benign Het
Gm9631 G A 11: 121,943,652 probably null Het
Gm9796 G T 11: 95,697,930 noncoding transcript Het
Gm9956 T C 10: 56,745,292 F17L unknown Het
Il1rap A T 16: 26,710,616 D396V probably damaging Het
Impa1 T C 3: 10,322,958 K135E possibly damaging Het
Iqub G A 6: 24,449,811 A685V probably damaging Het
Jade3 T C X: 20,512,824 V512A probably benign Het
Kif3a C A 11: 53,570,698 P57T probably damaging Het
Kndc1 G T 7: 139,921,913 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Maged2 G T X: 150,809,759 D343E probably benign Het
Magi2 T C 5: 19,678,709 S120P probably damaging Het
Nxph3 A T 11: 95,510,830 *253R probably null Het
Oog2 A T 4: 144,195,048 H194L probably damaging Het
Pcbd2 T G 13: 55,732,951 W40G probably benign Het
Pcdhb14 T G 18: 37,449,770 L643R possibly damaging Het
Plch1 G T 3: 63,697,756 R1567S probably null Het
Poln G T 5: 34,113,322 S455* probably null Het
Ppp2r1a T C 17: 20,951,334 probably benign Het
Rsu1 T G 2: 13,077,497 probably benign Het
Serpina10 A T 12: 103,616,943 M360K possibly damaging Het
Sox30 A T 11: 45,981,124 K269* probably null Het
Thbs1 T C 2: 118,114,970 V310A probably benign Het
Tie1 C A 4: 118,486,563 E61* probably null Het
Tm2d1 G T 4: 98,380,674 P62Q probably damaging Het
Tpp1 G T 7: 105,749,619 P201Q probably damaging Het
Trim13 A G 14: 61,605,149 E205G probably damaging Het
Other mutations in Clec1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Clec1b APN 6 129403562 unclassified probably damaging 1.00
IGL01950:Clec1b APN 6 129400080 missense probably damaging 1.00
IGL02288:Clec1b APN 6 129397623 missense probably damaging 1.00
R0471:Clec1b UTSW 6 129401607 splice site probably benign
R4028:Clec1b UTSW 6 129401811 missense probably benign
R4674:Clec1b UTSW 6 129400134 missense probably damaging 0.99
R6211:Clec1b UTSW 6 129401477 missense possibly damaging 0.78
Posted OnApr 16, 2015