Incidental Mutation 'IGL01950:Clec1b'
ID 181288
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 # IGL01950
Quality Score
Status
Chromosome 6
Chromosomal Location 129374260-129382376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129377043 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JL99
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: 110,228,107 (GRCm39) R96H probably damaging Het
Aebp1 C T 11: 5,819,108 (GRCm39) T198I probably benign Het
Arid3b A T 9: 57,702,257 (GRCm39) I500N probably damaging Het
Cyp2e1 T C 7: 140,344,874 (GRCm39) probably null Het
Dnah5 A G 15: 28,290,435 (GRCm39) E1275G probably null Het
Dnajc13 A T 9: 104,067,631 (GRCm39) I1171N possibly damaging Het
Dpf3 T G 12: 83,371,723 (GRCm39) T171P probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Kcnc2 T G 10: 112,297,980 (GRCm39) probably benign Het
Kcnj11 A T 7: 45,748,573 (GRCm39) F250Y probably damaging Het
Kirrel3 C T 9: 34,939,625 (GRCm39) probably benign Het
Lmbrd1 T C 1: 24,750,683 (GRCm39) probably null Het
Mga T C 2: 119,772,135 (GRCm39) V1665A possibly damaging Het
Ms4a3 G T 19: 11,610,199 (GRCm39) A121E probably damaging Het
Nfix T C 8: 85,440,415 (GRCm39) *392W probably null Het
Noxred1 C T 12: 87,268,190 (GRCm39) V314M probably damaging Het
Or2t47 A T 11: 58,442,560 (GRCm39) C168* probably null Het
Or51aa5 T A 7: 103,167,472 (GRCm39) T40S probably benign Het
Phospho1 A G 11: 95,719,548 (GRCm39) probably benign Het
Prr5 G A 15: 84,650,550 (GRCm39) A237T probably benign Het
Rev3l C T 10: 39,697,153 (GRCm39) T550M probably damaging Het
Sbf2 A G 7: 109,965,032 (GRCm39) F955L probably benign Het
Slc38a9 C T 13: 112,831,787 (GRCm39) T179M probably damaging Het
Trpv5 T G 6: 41,652,912 (GRCm39) D87A probably benign Het
Tubgcp5 A G 7: 55,455,836 (GRCm39) Q288R possibly damaging Het
Uqcc1 A G 2: 155,700,058 (GRCm39) Y172H probably damaging Het
Vmn2r23 T C 6: 123,718,845 (GRCm39) F733L possibly damaging Het
Vmn2r71 A G 7: 85,264,827 (GRCm39) Y53C probably damaging Het
Vwa5a T A 9: 38,638,266 (GRCm39) M263K probably damaging Het
Zfp503 C A 14: 22,036,488 (GRCm39) A143S probably benign Het
Zfp958 T C 8: 4,678,917 (GRCm39) L314P probably damaging Het
Other mutations in Clec1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Clec1b APN 6 129,380,525 (GRCm39) missense probably damaging 1.00
IGL02288:Clec1b APN 6 129,374,586 (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 2014-05-07