Incidental Mutation 'R8979:Clec1b'
ID 683629
Institutional Source Beutler Lab
Gene Symbol Clec1b
Ensembl Gene ENSMUSG00000030159
Gene Name C-type lectin domain family 1, member b
Synonyms Clec-2, 1810061I13Rik, Clec2
MMRRC Submission 068812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R8979 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 129374260-129382376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129380537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 151 (E151G)
Ref Sequence ENSEMBL: ENSMUSP00000032262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032262] [ENSMUST00000112079] [ENSMUST00000112081]
AlphaFold Q9JL99
Predicted Effect probably benign
Transcript: ENSMUST00000032262
AA Change: E151G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032262
Gene: ENSMUSG00000030159
AA Change: E151G

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
CLECT 102 217 1.59e-18 SMART
Predicted Effect silent
Transcript: ENSMUST00000112079
Predicted Effect probably benign
Transcript: ENSMUST00000112081
AA Change: E119G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107712
Gene: ENSMUSG00000030159
AA Change: E119G

DomainStartEndE-ValueType
CLECT 70 185 1.59e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,545 (GRCm39) R353S probably damaging Het
Ablim3 C T 18: 61,982,397 (GRCm39) V183I probably benign Het
Adgrb3 T A 1: 25,527,115 (GRCm39) Q607L probably benign Het
Adgrl1 A G 8: 84,665,015 (GRCm39) D1234G probably benign Het
Alms1 A G 6: 85,598,009 (GRCm39) Y945C probably damaging Het
Arhgef26 T A 3: 62,246,969 (GRCm39) W18R possibly damaging Het
Caskin1 G T 17: 24,717,899 (GRCm39) A229S possibly damaging Het
Celsr1 A T 15: 85,847,340 (GRCm39) S1466T probably damaging Het
Cftr T C 6: 18,227,947 (GRCm39) Y380H probably benign Het
Ciapin1 A T 8: 95,549,753 (GRCm39) L301Q probably damaging Het
Cngb1 G A 8: 96,004,913 (GRCm39) probably benign Het
Cntln T A 4: 85,048,910 (GRCm39) V240E probably damaging Het
Cog5 A G 12: 31,840,894 (GRCm39) T240A probably benign Het
Col5a3 G A 9: 20,686,597 (GRCm39) P1343S unknown Het
Cspp1 T A 1: 10,134,630 (GRCm39) S127T probably benign Het
Dnah9 T G 11: 65,895,978 (GRCm39) M2466L probably benign Het
Fbn2 C T 18: 58,286,928 (GRCm39) G244R probably damaging Het
Fbxw13 A T 9: 109,013,197 (GRCm39) W247R probably damaging Het
Gbp4 G A 5: 105,267,248 (GRCm39) T557M probably benign Het
Ide G A 19: 37,302,711 (GRCm39) A133V Het
Il2rb C A 15: 78,376,052 (GRCm39) probably benign Het
Itgb1 A G 8: 129,448,951 (GRCm39) E519G probably benign Het
Kifc1 A G 17: 34,102,228 (GRCm39) Y462H possibly damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Llgl1 C T 11: 60,601,129 (GRCm39) A689V probably benign Het
Lrrc37a C A 11: 103,393,833 (GRCm39) V531L possibly damaging Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Mid1 G A X: 168,768,009 (GRCm39) A386T probably benign Het
Mms22l C T 4: 24,580,070 (GRCm39) L760F probably benign Het
Mplkipl1 A G 19: 61,164,169 (GRCm39) Y89H probably damaging Het
Mst1r C T 9: 107,792,478 (GRCm39) R951C probably damaging Het
Naalad2 G A 9: 18,242,146 (GRCm39) T586M probably damaging Het
Or4c108 C T 2: 88,804,173 (GRCm39) V21I probably benign Het
Oxct2b A G 4: 123,011,169 (GRCm39) N363S probably benign Het
Padi6 T G 4: 140,466,474 (GRCm39) N145T probably benign Het
Plcl2 T A 17: 50,947,145 (GRCm39) M1008K possibly damaging Het
Plekha5 T C 6: 140,496,818 (GRCm39) S435P probably damaging Het
Prkacb C A 3: 146,518,411 (GRCm39) G10C probably benign Het
Psg29 A T 7: 16,937,544 (GRCm39) probably benign Het
Ptpn4 T C 1: 119,671,120 (GRCm39) T213A probably damaging Het
Ptpro A G 6: 137,345,140 (GRCm39) I49V probably benign Het
Rassf1 A G 9: 107,429,004 (GRCm39) D70G probably benign Het
Rbm24 A T 13: 46,572,531 (GRCm39) T9S probably damaging Het
Rp1 T C 1: 4,218,937 (GRCm39) T948A unknown Het
Ryr2 A T 13: 11,609,924 (GRCm39) C4301S probably benign Het
S100pbp T C 4: 129,076,133 (GRCm39) D64G probably damaging Het
Samd3 A G 10: 26,120,428 (GRCm39) K141E possibly damaging Het
Scgb1b29 A T 7: 32,141,277 (GRCm39) K65* probably null Het
Shoc1 T C 4: 59,047,276 (GRCm39) T1448A possibly damaging Het
Slc51b T C 9: 65,320,210 (GRCm39) N86D probably benign Het
Slc6a3 G A 13: 73,715,720 (GRCm39) V452I probably benign Het
Sobp A G 10: 42,896,976 (GRCm39) probably null Het
Spats2 T C 15: 99,110,123 (GRCm39) S507P possibly damaging Het
Spns3 C T 11: 72,420,416 (GRCm39) A357T probably damaging Het
Suox A T 10: 128,507,367 (GRCm39) H220Q probably damaging Het
Tbc1d9b A T 11: 50,061,809 (GRCm39) S1106C probably benign Het
Tbx1 T C 16: 18,406,745 (GRCm39) D9G unknown Het
Tcaf2 A T 6: 42,601,404 (GRCm39) F885Y probably damaging Het
Tgoln1 T C 6: 72,593,262 (GRCm39) T73A probably benign Het
Tigd3 G A 19: 5,941,853 (GRCm39) P426S probably benign Het
Tmem233 T A 5: 116,221,260 (GRCm39) probably benign Het
Tnfrsf11a A G 1: 105,754,825 (GRCm39) D299G possibly damaging Het
Trim32 T C 4: 65,531,692 (GRCm39) V83A possibly damaging Het
Unc13a A T 8: 72,113,125 (GRCm39) M242K probably benign Het
Vat1 C T 11: 101,353,041 (GRCm39) G293D probably damaging Het
Vmn1r174 T A 7: 23,453,892 (GRCm39) V186D possibly damaging Het
Wdfy3 A G 5: 102,096,764 (GRCm39) Y345H probably damaging Het
Zzef1 C T 11: 72,766,003 (GRCm39) T1510I probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GGAAGACTAGCATTTTACCTGC -3'
(R):5'- GAGACATCTCAACTTTCAGGCAAC -3'

Sequencing Primer
(F):5'- ATGTCCTCCCCATACTTTTGAATAC -3'
(R):5'- CTTATGTTCAACAAGAAAGATCTGGG -3'
Posted On 2021-10-11