Incidental Mutation 'IGL01950:Clec1b'
ID181288
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: 0.114) question?
Stock #IGL01950
Quality Score
Status
Chromosome6
Chromosomal Location129397297-129409335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 129400080 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 29 (W29R)
Ref Sequence ENSEMBL: ENSMUSP00000032262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032262] [ENSMUST00000112079] [ENSMUST00000112081]
Predicted Effect probably damaging
Transcript: ENSMUST00000032262
AA Change: W29R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032262
Gene: ENSMUSG00000030159
AA Change: W29R

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 benign
Transcript: ENSMUST00000112081
SMART Domains Protein: ENSMUSP00000107712
Gene: ENSMUSG00000030159

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm G A 7: 110,628,900 R96H probably damaging Het
Aebp1 C T 11: 5,869,108 T198I probably benign Het
Arhgap8 G A 15: 84,766,349 A237T probably benign Het
Arid3b A T 9: 57,794,974 I500N probably damaging Het
Cyp2e1 T C 7: 140,764,961 probably null Het
Dnah5 A G 15: 28,290,289 E1275G probably null Het
Dnajc13 A T 9: 104,190,432 I1171N possibly damaging Het
Dpf3 T G 12: 83,324,949 T171P probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Hk1 T C 10: 62,315,394 D57G probably damaging Het
Kcnc2 T G 10: 112,462,075 probably benign Het
Kcnj11 A T 7: 46,099,149 F250Y probably damaging Het
Kirrel3 C T 9: 35,028,329 probably benign Het
Lmbrd1 T C 1: 24,711,602 probably null Het
Mga T C 2: 119,941,654 V1665A possibly damaging Het
Ms4a3 G T 19: 11,632,835 A121E probably damaging Het
Nfix T C 8: 84,713,786 *392W probably null Het
Noxred1 C T 12: 87,221,416 V314M probably damaging Het
Olfr328 A T 11: 58,551,734 C168* probably null Het
Olfr611 T A 7: 103,518,265 T40S probably benign Het
Phospho1 A G 11: 95,828,722 probably benign Het
Rev3l C T 10: 39,821,157 T550M probably damaging Het
Sbf2 A G 7: 110,365,825 F955L probably benign Het
Slc38a9 C T 13: 112,695,253 T179M probably damaging Het
Trpv5 T G 6: 41,675,978 D87A probably benign Het
Tubgcp5 A G 7: 55,806,088 Q288R possibly damaging Het
Uqcc1 A G 2: 155,858,138 Y172H probably damaging Het
Vmn2r23 T C 6: 123,741,886 F733L possibly damaging Het
Vmn2r71 A G 7: 85,615,619 Y53C probably damaging Het
Vwa5a T A 9: 38,726,970 M263K probably damaging Het
Zfp503 C A 14: 21,986,420 A143S probably benign Het
Zfp958 T C 8: 4,628,917 L314P probably damaging Het
Other mutations in Clec1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Clec1b APN 6 129403562 missense probably damaging 1.00
IGL02288:Clec1b APN 6 129397623 missense probably damaging 1.00
IGL02411:Clec1b APN 6 129401841 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 On2014-05-07