Incidental Mutation 'IGL02288:Clec1b'
ID290016
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: 0.041) question?
Stock #IGL02288
Quality Score
Status
Chromosome6
Chromosomal Location129397297-129409335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 129397623 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 3 (D3E)
Ref Sequence ENSEMBL: ENSMUSP00000107712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032262] [ENSMUST00000112079] [ENSMUST00000112081]
Predicted Effect probably damaging
Transcript: ENSMUST00000032262
AA Change: D3E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032262
Gene: ENSMUSG00000030159
AA Change: D3E

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
CLECT 102 217 1.59e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112079
AA Change: D3E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000112081
AA Change: D3E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107712
Gene: ENSMUSG00000030159
AA Change: D3E

DomainStartEndE-ValueType
CLECT 70 185 1.59e-18 SMART
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid1b A G 17: 5,264,040 M706V possibly damaging Het
Dqx1 A G 6: 83,060,328 H324R probably damaging Het
Ep400 A G 5: 110,683,836 probably benign Het
Ewsr1 T C 11: 5,093,689 T32A possibly damaging Het
Exoc1 C A 5: 76,545,313 H349N probably benign Het
Fgg T C 3: 83,008,153 Y26H probably benign Het
Gpld1 T A 13: 24,979,683 Y41* probably null Het
Gpr152 A G 19: 4,143,695 M412V probably benign Het
Matn2 T A 15: 34,422,386 C540S probably damaging Het
Nars T C 18: 64,510,535 probably benign Het
Ncor1 A G 11: 62,349,403 I914T probably benign Het
Olfr1290 A T 2: 111,489,720 F146Y probably benign Het
Olfr393 A G 11: 73,847,381 V248A possibly damaging Het
Rev3l T C 10: 39,828,216 L2086P probably benign Het
Snrnp200 T A 2: 127,229,895 I1165N probably damaging Het
Spindoc G A 19: 7,358,302 Q374* probably null Het
Thsd1 A C 8: 22,259,549 D751A probably damaging Het
Ttll4 G A 1: 74,679,401 R137H probably benign Het
Vmn2r70 T A 7: 85,565,134 Y270F probably benign Het
Zscan20 A G 4: 128,586,643 I685T probably damaging Het
Other mutations in Clec1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Clec1b APN 6 129403562 missense probably damaging 1.00
IGL01950:Clec1b APN 6 129400080 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 On2015-04-16