Incidental Mutation 'IGL03071:Clec2d'
ID417501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec2d
Ensembl Gene ENSMUSG00000030157
Gene NameC-type lectin domain family 2, member d
SynonymsClr-b, Clrb, Ocil
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03071
Quality Score
Status
Chromosome6
Chromosomal Location129180615-129186534 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129183202 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 60 (S60P)
Ref Sequence ENSEMBL: ENSMUSP00000032260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032260]
Predicted Effect probably benign
Transcript: ENSMUST00000032260
AA Change: S60P

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032260
Gene: ENSMUSG00000030157
AA Change: S60P

DomainStartEndE-ValueType
low complexity region 51 66 N/A INTRINSIC
CLECT 80 191 8.47e-23 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Enhanced osteoclastic activity in the bone of homozygous null mice leads to osteopenia and high serum calcium levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 40,825,067 L165H probably benign Het
Ahnak T C 19: 9,011,918 I3522T possibly damaging Het
Anks1 G A 17: 28,008,199 A609T probably benign Het
Apaf1 T C 10: 90,997,255 D1138G possibly damaging Het
Appl2 T C 10: 83,641,106 probably null Het
Arhgef19 A T 4: 141,249,002 I385F possibly damaging Het
Cby3 A G 11: 50,359,516 D183G probably damaging Het
Ccdc134 G A 15: 82,134,625 V119M possibly damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Cts6 A T 13: 61,202,250 F6I probably damaging Het
Cyyr1 G A 16: 85,465,561 H103Y probably damaging Het
Dopey1 T A 9: 86,489,615 S120T possibly damaging Het
Dot1l T C 10: 80,788,679 S994P probably benign Het
Eya4 T G 10: 23,323,073 D3A probably benign Het
Fam160b2 A G 14: 70,586,209 C574R probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gria1 A T 11: 57,012,110 probably null Het
Hectd1 T C 12: 51,769,174 T1377A probably benign Het
Magi3 T G 3: 104,015,886 K1172Q possibly damaging Het
Map3k1 A C 13: 111,755,525 D1065E possibly damaging Het
Mindy4b-ps A T 3: 58,809,737 V242D probably damaging Het
Mrgpra3 T C 7: 47,589,181 probably benign Het
Mroh9 C A 1: 163,039,197 G657C probably damaging Het
Ogfod1 T C 8: 94,057,767 W318R probably damaging Het
Olfr16 A G 1: 172,956,935 T47A probably benign Het
Pacsin3 G A 2: 91,260,492 R48H probably damaging Het
Plcb1 A G 2: 135,387,802 E1114G probably damaging Het
Prkdc T G 16: 15,799,984 D3226E probably benign Het
Prl4a1 A T 13: 28,020,263 E96V probably benign Het
Robo4 T C 9: 37,404,284 probably benign Het
Scn7a G A 2: 66,699,947 L685F possibly damaging Het
Spata1 A G 3: 146,475,334 Y290H possibly damaging Het
Tex10 T C 4: 48,452,946 D671G probably benign Het
Tifa T G 3: 127,797,079 Y166* probably null Het
Tnfsf10 G A 3: 27,335,620 D277N probably damaging Het
Tram1 A T 1: 13,579,774 Y75* probably null Het
Vmn1r60 T A 7: 5,544,369 N244I probably damaging Het
Xpo4 A G 14: 57,618,228 I248T possibly damaging Het
Zc2hc1a A G 3: 7,524,122 probably benign Het
Zfp386 T A 12: 116,059,140 H124Q probably benign Het
Other mutations in Clec2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01691:Clec2d APN 6 129184222 missense probably damaging 1.00
IGL01984:Clec2d APN 6 129184229 missense possibly damaging 0.89
R0626:Clec2d UTSW 6 129183127 missense probably damaging 0.98
R0900:Clec2d UTSW 6 129183113 missense probably benign 0.00
R2077:Clec2d UTSW 6 129183190 missense possibly damaging 0.80
R2200:Clec2d UTSW 6 129184868 missense possibly damaging 0.80
R2227:Clec2d UTSW 6 129184251 missense probably benign 0.44
R4826:Clec2d UTSW 6 129184159 missense probably benign 0.00
R5040:Clec2d UTSW 6 129184830 missense probably damaging 1.00
R6763:Clec2d UTSW 6 129184144 missense probably benign 0.06
R8121:Clec2d UTSW 6 129184884 missense probably benign 0.04
Posted On2016-08-02