Incidental Mutation 'R6522:Clec2i'
ID 521362
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 044648-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6522 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 128864551-128875130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 128870692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 77 (V77F)
Ref Sequence ENSEMBL: ENSMUSP00000123804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032519] [ENSMUST00000159866] [ENSMUST00000160290] [ENSMUST00000160867] [ENSMUST00000162666] [ENSMUST00000178918]
AlphaFold Q9WVF9
PDB Structure Mouse C-type lectin-related protein Clrg [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032519
AA Change: V73F

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032519
Gene: ENSMUSG00000030365
AA Change: V73F

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 damaging
Transcript: ENSMUST00000159866
AA Change: V77F

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123804
Gene: ENSMUSG00000030365
AA Change: V77F

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
AA Change: V12F

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000145115
Gene: ENSMUSG00000030365
AA Change: V12F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CLECT 31 142 1.9e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162666
AA Change: V102F

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124910
Gene: ENSMUSG00000030365
AA Change: V102F

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb C A 10: 10,253,636 (GRCm39) E1209* probably null Het
Adgrg5 G T 8: 95,668,696 (GRCm39) R503L probably benign Het
Anks1b C T 10: 90,733,189 (GRCm39) probably benign Het
Anxa5 A T 3: 36,519,451 (GRCm39) F13I probably damaging Het
Bicd1 A G 6: 149,385,503 (GRCm39) I79V probably benign Het
Bnip1 A G 17: 27,008,719 (GRCm39) D107G probably damaging Het
Ccdc42 A G 11: 68,479,046 (GRCm39) E78G probably damaging Het
Ccnk A G 12: 108,153,446 (GRCm39) D69G probably damaging Het
Clec4g A C 8: 3,768,803 (GRCm39) V62G probably benign Het
Col4a4 G A 1: 82,465,304 (GRCm39) A957V unknown Het
Csnk1d A G 11: 120,862,449 (GRCm39) F277L probably damaging Het
Dip2c G A 13: 9,625,264 (GRCm39) probably null Het
Dpf2 T A 19: 5,955,560 (GRCm39) K108* probably null Het
Dync1h1 G A 12: 110,583,171 (GRCm39) D423N probably damaging Het
Fbxl13 T C 5: 21,766,554 (GRCm39) probably null Homo
Flad1 T C 3: 89,310,490 (GRCm39) R488G probably damaging Het
Galnt6 A C 15: 100,591,236 (GRCm39) *623E probably null Het
Gtf2e1 T C 16: 37,331,816 (GRCm39) T420A possibly damaging Het
Hspg2 T C 4: 137,282,586 (GRCm39) V3442A probably damaging Het
Itpr1 A G 6: 108,365,237 (GRCm39) D55G probably damaging Het
Kdm2a C A 19: 4,374,854 (GRCm39) R759L possibly damaging Het
Kif19a A G 11: 114,676,605 (GRCm39) E478G probably damaging Het
Lamb3 G A 1: 193,017,761 (GRCm39) V881I probably benign Het
Map3k6 T C 4: 132,977,335 (GRCm39) L894P possibly damaging Het
Mast4 A G 13: 102,897,801 (GRCm39) probably null Het
Mst1r G A 9: 107,790,438 (GRCm39) V684M probably benign Het
Naa15 T C 3: 51,378,935 (GRCm39) S727P probably damaging Het
Nap1l1 T C 10: 111,330,084 (GRCm39) L330S probably damaging Het
Nav2 A G 7: 49,247,281 (GRCm39) T2205A probably damaging Het
Ncf2 T C 1: 152,703,214 (GRCm39) probably null Het
Opa1 T A 16: 29,444,332 (GRCm39) N839K probably benign Het
Or4c104 T C 2: 88,586,452 (GRCm39) D189G probably damaging Het
Or52a33 T C 7: 103,288,504 (GRCm39) Y281C probably damaging Het
Or52n4b G A 7: 108,144,202 (GRCm39) V155I probably benign Het
Pcdha7 T C 18: 37,106,995 (GRCm39) Y7H possibly damaging Het
Pcdhb15 T C 18: 37,607,314 (GRCm39) V182A probably benign Het
Phf10 A T 17: 15,176,269 (GRCm39) I128N probably damaging Het
Plce1 T A 19: 38,736,965 (GRCm39) probably null Het
Plxnb2 T C 15: 89,048,629 (GRCm39) N626S probably benign Het
Prh1 G A 6: 132,548,996 (GRCm39) G168R unknown Het
Prss51 A G 14: 64,334,855 (GRCm39) T137A possibly damaging Het
Ptprcap C T 19: 4,206,183 (GRCm39) R89C possibly damaging Het
Scfd1 A G 12: 51,478,324 (GRCm39) K512R probably benign Het
Serpina1b A C 12: 103,701,296 (GRCm39) probably null Het
Setbp1 T C 18: 78,900,605 (GRCm39) T1021A probably damaging Het
Slco1b2 G A 6: 141,601,145 (GRCm39) probably null Het
Snrnp200 C T 2: 127,063,747 (GRCm39) T642I probably benign Het
Tenm4 A C 7: 96,492,251 (GRCm39) I1063L possibly damaging Het
Tfb2m G A 1: 179,373,611 (GRCm39) A29V probably benign Het
Tfeb T C 17: 48,100,627 (GRCm39) V140A probably damaging Het
Tmem104 A T 11: 115,134,579 (GRCm39) I372F probably damaging Het
Tmem132d G T 5: 127,860,832 (GRCm39) H1096Q probably benign Het
Trim12c A T 7: 103,997,531 (GRCm39) N8K probably benign Het
Tti2 A G 8: 31,643,631 (GRCm39) I249V probably null Het
Vps8 T A 16: 21,261,129 (GRCm39) L90I probably damaging Het
Vwf A T 6: 125,639,926 (GRCm39) probably null Het
Wdfy4 A G 14: 32,868,901 (GRCm39) S376P probably damaging 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
R5020:Clec2i UTSW 6 128,870,621 (GRCm39) missense probably benign 0.00
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
R6804:Clec2i UTSW 6 128,872,384 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCTCTAAAAGGGTTGGCAGAAG -3'
(R):5'- TGCAACTTCCAGCTAGAACC -3'

Sequencing Primer
(F):5'- CTGATAGGCAATTGTAAAGCTTTGTG -3'
(R):5'- GATTTCTCCAGAGCCCTT -3'
Posted On 2018-06-06