Incidental Mutation 'IGL02288:Clec1b'
ID 290016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec1b
Ensembl Gene ENSMUSG00000030159
Gene Name C-type lectin domain family 1, member b
Synonyms Clec-2, 1810061I13Rik, Clec2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02288
Quality Score
Status
Chromosome 6
Chromosomal Location 129374260-129382376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129374586 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JL99
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: 5,314,315 (GRCm39) M706V possibly damaging Het
Dqx1 A G 6: 83,037,309 (GRCm39) H324R probably damaging Het
Ep400 A G 5: 110,831,702 (GRCm39) probably benign Het
Ewsr1 T C 11: 5,043,689 (GRCm39) T32A possibly damaging Het
Exoc1 C A 5: 76,693,160 (GRCm39) H349N probably benign Het
Fgg T C 3: 82,915,460 (GRCm39) Y26H probably benign Het
Gpld1 T A 13: 25,163,666 (GRCm39) Y41* probably null Het
Gpr152 A G 19: 4,193,694 (GRCm39) M412V probably benign Het
Matn2 T A 15: 34,422,532 (GRCm39) C540S probably damaging Het
Nars1 T C 18: 64,643,606 (GRCm39) probably benign Het
Ncor1 A G 11: 62,240,229 (GRCm39) I914T probably benign Het
Or1e33 A G 11: 73,738,207 (GRCm39) V248A possibly damaging Het
Or4k42 A T 2: 111,320,065 (GRCm39) F146Y probably benign Het
Rev3l T C 10: 39,704,212 (GRCm39) L2086P probably benign Het
Snrnp200 T A 2: 127,071,815 (GRCm39) I1165N probably damaging Het
Spindoc G A 19: 7,335,667 (GRCm39) Q374* probably null Het
Thsd1 A C 8: 22,749,565 (GRCm39) D751A probably damaging Het
Ttll4 G A 1: 74,718,560 (GRCm39) R137H probably benign Het
Vmn2r70 T A 7: 85,214,342 (GRCm39) Y270F probably benign Het
Zscan20 A G 4: 128,480,436 (GRCm39) I685T probably damaging Het
Other mutations in Clec1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Clec1b APN 6 129,380,525 (GRCm39) missense probably damaging 1.00
IGL01950:Clec1b APN 6 129,377,043 (GRCm39) missense probably damaging 1.00
IGL02411:Clec1b APN 6 129,378,804 (GRCm39) missense probably damaging 1.00
R0471:Clec1b UTSW 6 129,378,570 (GRCm39) splice site probably benign
R4028:Clec1b UTSW 6 129,378,774 (GRCm39) missense probably benign
R4674:Clec1b UTSW 6 129,377,097 (GRCm39) missense probably damaging 0.99
R6211:Clec1b UTSW 6 129,378,440 (GRCm39) missense possibly damaging 0.78
R8777:Clec1b UTSW 6 129,380,537 (GRCm39) missense probably benign 0.05
R8777-TAIL:Clec1b UTSW 6 129,380,537 (GRCm39) missense probably benign 0.05
R8887:Clec1b UTSW 6 129,378,703 (GRCm39) critical splice acceptor site probably null
R8915:Clec1b UTSW 6 129,382,212 (GRCm39) makesense probably null
R8979:Clec1b UTSW 6 129,380,537 (GRCm39) missense probably benign
R9546:Clec1b UTSW 6 129,382,167 (GRCm39) missense probably benign 0.01
R9567:Clec1b UTSW 6 129,382,201 (GRCm39) missense possibly damaging 0.94
R9717:Clec1b UTSW 6 129,374,603 (GRCm39) missense probably benign 0.20
R9740:Clec1b UTSW 6 129,380,549 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16