Incidental Mutation 'R5020:Clec2i'
ID 389134
Institutional Source Beutler Lab
Gene Symbol Clec2i
Ensembl Gene ENSMUSG00000030365
Gene Name C-type lectin domain family 2, member i
Synonyms Clrg, OCILrP2, Dcl1, Clr-g
MMRRC Submission 042611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5020 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128864551-128875130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128870621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 78 (V78E)
Ref Sequence ENSEMBL: ENSMUSP00000124910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032519] [ENSMUST00000159866] [ENSMUST00000160290] [ENSMUST00000160867] [ENSMUST00000162666] [ENSMUST00000178918]
AlphaFold Q9WVF9
Predicted Effect probably benign
Transcript: ENSMUST00000032519
AA Change: V49E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032519
Gene: ENSMUSG00000030365
AA Change: V49E

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 92 203 3.78e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159080
Predicted Effect probably benign
Transcript: ENSMUST00000159866
AA Change: V53E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123804
Gene: ENSMUSG00000030365
AA Change: V53E

DomainStartEndE-ValueType
transmembrane domain 58 80 N/A INTRINSIC
CLECT 96 207 3.78e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160290
Predicted Effect probably benign
Transcript: ENSMUST00000160867
SMART Domains Protein: ENSMUSP00000145115
Gene: ENSMUSG00000030365

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CLECT 31 142 1.9e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162666
AA Change: V78E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124910
Gene: ENSMUSG00000030365
AA Change: V78E

DomainStartEndE-ValueType
transmembrane domain 83 105 N/A INTRINSIC
CLECT 121 232 3.78e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178918
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A T 7: 131,042,929 (GRCm39) probably null Het
Actl6a A G 3: 32,774,656 (GRCm39) I340V possibly damaging Het
Alppl2 C T 1: 87,017,431 (GRCm39) V19I probably benign Het
Ankrd34c T C 9: 89,611,759 (GRCm39) K194R probably benign Het
Anpep T A 7: 79,483,475 (GRCm39) M672L probably benign Het
Arhgap31 T C 16: 38,423,438 (GRCm39) D876G probably damaging Het
Arid2 T A 15: 96,269,869 (GRCm39) N1327K probably damaging Het
Atp5f1d C A 10: 79,981,263 (GRCm39) P101Q probably benign Het
Bcl7b G A 5: 135,200,017 (GRCm39) probably null Het
Brca2 A T 5: 150,483,901 (GRCm39) S2907C probably damaging Het
Ccser2 T C 14: 36,662,134 (GRCm39) E350G probably benign Het
Cdh23 G T 10: 60,143,811 (GRCm39) D2929E probably damaging Het
Cpxm1 A T 2: 130,237,897 (GRCm39) probably null Het
Crybg3 C T 16: 59,375,159 (GRCm39) V2032I possibly damaging Het
Eif5b A T 1: 38,058,150 (GRCm39) K151* probably null Het
Gemin7 T A 7: 19,299,348 (GRCm39) E82D possibly damaging Het
Gm14496 A G 2: 181,633,152 (GRCm39) E45G possibly damaging Het
Gm21915 T C 9: 40,581,966 (GRCm39) S20P probably damaging Het
Gm8126 A C 14: 43,119,026 (GRCm39) E165A probably damaging Het
Grin2b T C 6: 135,710,405 (GRCm39) D1047G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ikbke T A 1: 131,201,397 (GRCm39) Y150F probably damaging Het
Inhca T C 9: 103,159,701 (GRCm39) D70G probably benign Het
Itih5 T A 2: 10,245,315 (GRCm39) probably null Het
Lrig2 T C 3: 104,365,217 (GRCm39) Q645R possibly damaging Het
Map4 A G 9: 109,897,868 (GRCm39) M712V probably benign Het
Mecom A G 3: 30,015,255 (GRCm39) S823P probably damaging Het
Mettl25 A G 10: 105,662,068 (GRCm39) Y301H possibly damaging Het
Mga A T 2: 119,781,654 (GRCm39) K2136* probably null Het
Mmp24 A G 2: 155,652,204 (GRCm39) E304G probably benign Het
Mmp3 T A 9: 7,445,984 (GRCm39) D29E probably benign Het
Nbas T A 12: 13,424,713 (GRCm39) I984N probably damaging Het
Nedd9 A G 13: 41,469,270 (GRCm39) Y628H probably damaging Het
Nlrp2 C T 7: 5,331,076 (GRCm39) C440Y probably damaging Het
Or4g16 T C 2: 111,136,637 (GRCm39) V29A probably benign Het
Or6p1 T G 1: 174,258,237 (GRCm39) L81R probably damaging Het
P4ha2 T C 11: 54,022,016 (GRCm39) V513A probably damaging Het
Pcsk4 T C 10: 80,161,869 (GRCm39) N124S probably benign Het
Phf12 T C 11: 77,914,622 (GRCm39) F139S probably damaging Het
Phlpp2 T A 8: 110,666,714 (GRCm39) L1081H probably damaging Het
Phospho2 T A 2: 69,626,323 (GRCm39) F160I probably damaging Het
Plch2 T G 4: 155,091,540 (GRCm39) D115A probably damaging Het
Plekho1 A G 3: 95,896,851 (GRCm39) F215S probably damaging Het
Psma4 C A 9: 54,860,056 (GRCm39) A47E probably damaging Het
Rasa4 A C 5: 136,130,153 (GRCm39) Q303P probably damaging Het
Rbmxl2 C T 7: 106,809,414 (GRCm39) P233L probably damaging Het
Reln A T 5: 22,239,636 (GRCm39) L877H probably damaging Het
Rtel1 A G 2: 180,964,307 (GRCm39) probably null Het
Septin12 T C 16: 4,811,620 (GRCm39) D116G probably damaging Het
Son T A 16: 91,453,263 (GRCm39) V670E probably damaging Het
Spag9 T A 11: 93,988,612 (GRCm39) I544N probably benign Het
Spsb3 T G 17: 25,106,036 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,652 (GRCm39) F164L possibly damaging Het
Tgfbr3 T C 5: 107,362,836 (GRCm39) T59A probably damaging Het
Tsc1 T A 2: 28,566,531 (GRCm39) I649K probably damaging Het
Txndc9 T C 1: 38,034,793 (GRCm39) D37G probably benign Het
Uba7 C T 9: 107,856,113 (GRCm39) A496V probably benign Het
Usf3 T A 16: 44,035,889 (GRCm39) I123N probably damaging Het
Vmn1r184 T A 7: 25,966,955 (GRCm39) S234T possibly damaging Het
Vsig10l C A 7: 43,114,741 (GRCm39) S314* probably null Het
Wdfy4 A G 14: 32,801,892 (GRCm39) F1922S probably damaging Het
Zfp219 C T 14: 52,247,112 (GRCm39) R5H probably damaging Het
Zfp946 G T 17: 22,674,584 (GRCm39) C446F probably benign Het
Other mutations in Clec2i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02618:Clec2i APN 6 128,873,464 (GRCm39) missense probably damaging 1.00
IGL03081:Clec2i APN 6 128,871,728 (GRCm39) missense probably damaging 0.97
R0464:Clec2i UTSW 6 128,872,386 (GRCm39) missense probably damaging 1.00
R0508:Clec2i UTSW 6 128,870,663 (GRCm39) missense probably damaging 1.00
R1763:Clec2i UTSW 6 128,872,388 (GRCm39) nonsense probably null
R1779:Clec2i UTSW 6 128,865,069 (GRCm39) critical splice donor site probably null
R6035:Clec2i UTSW 6 128,870,587 (GRCm39) missense probably benign 0.01
R6035:Clec2i UTSW 6 128,870,587 (GRCm39) missense probably benign 0.01
R6522:Clec2i UTSW 6 128,870,692 (GRCm39) missense probably damaging 0.96
R6804:Clec2i UTSW 6 128,872,384 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTCTACCATGGACATCCTTTGTGG -3'
(R):5'- CCAGTGTGATTTCTCCAGAGC -3'

Sequencing Primer
(F):5'- TGGACCAGGGCCTTCTCTAAAAG -3'
(R):5'- AGTGTGATTTCTCCAGAGCCCTTC -3'
Posted On 2016-06-06