Incidental Mutation 'R6804:Clec2i'
ID 533482
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 044917-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6804 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 128864551-128875130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128872384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 172 (E172G)
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 probably benign
Transcript: ENSMUST00000032519
AA Change: E168G

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032519
Gene: ENSMUSG00000030365
AA Change: E168G

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 92 203 3.78e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159866
AA Change: E172G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123804
Gene: ENSMUSG00000030365
AA Change: E172G

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: E107G

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145115
Gene: ENSMUSG00000030365
AA Change: E107G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CLECT 31 142 1.9e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162666
AA Change: E197G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124910
Gene: ENSMUSG00000030365
AA Change: E197G

DomainStartEndE-ValueType
transmembrane domain 83 105 N/A INTRINSIC
CLECT 121 232 3.78e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178918
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,343,757 (GRCm39) Q480L probably benign Het
Arid4b T A 13: 14,303,792 (GRCm39) D72E probably benign Het
Avil C T 10: 126,844,175 (GRCm39) Q245* probably null Het
BC048679 T C 7: 81,146,612 (GRCm39) S2G possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cacna1d T C 14: 29,773,622 (GRCm39) T1723A probably benign Het
Cfap91 T C 16: 38,152,604 (GRCm39) D202G probably damaging Het
Chil3 A T 3: 106,071,495 (GRCm39) Y56* probably null Het
Crybg1 C T 10: 43,842,337 (GRCm39) D1785N probably damaging Het
Csmd1 G A 8: 16,087,260 (GRCm39) R1930W probably damaging Het
D430041D05Rik A C 2: 103,979,371 (GRCm39) S2019A possibly damaging Het
Ep300 T A 15: 81,525,512 (GRCm39) Y1445* probably null Het
Gne A G 4: 44,060,210 (GRCm39) I61T probably damaging Het
Ifit3b A T 19: 34,588,947 (GRCm39) Q41L possibly damaging Het
Kplce T C 3: 92,776,354 (GRCm39) T110A possibly damaging Het
Llgl2 A G 11: 115,734,141 (GRCm39) probably null Het
Mast3 T C 8: 71,239,376 (GRCm39) I417V probably benign Het
Mettl21e T A 1: 44,257,295 (GRCm39) I8F probably benign Het
Ms4a2 A G 19: 11,594,899 (GRCm39) Y183H probably damaging Het
Naip6 C G 13: 100,435,675 (GRCm39) E949D probably benign Het
Nbea T C 3: 55,994,874 (GRCm39) T181A probably benign Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Olfm3 A T 3: 114,916,328 (GRCm39) Y400F probably benign Het
Or12d2 A G 17: 37,625,021 (GRCm39) S85P probably damaging Het
Or1e33 A G 11: 73,738,240 (GRCm39) V237A probably benign Het
Or2a25 A T 6: 42,888,852 (GRCm39) T132S probably benign Het
Or2y1e A G 11: 49,218,808 (GRCm39) D190G probably benign Het
Pappa2 T C 1: 158,764,438 (GRCm39) S358G probably benign Het
Pde4dip C A 3: 97,700,564 (GRCm39) E259* probably null Het
Phlpp2 T A 8: 110,655,197 (GRCm39) L664Q probably damaging Het
Prpf8 A G 11: 75,390,635 (GRCm39) K1262R possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Saal1 GGCTTGCACGCCGT G 7: 46,349,064 (GRCm39) probably null Het
Sec31a C T 5: 100,530,671 (GRCm39) V701I probably benign Het
Smarca2 A T 19: 26,729,286 (GRCm39) R12S possibly damaging Het
Spocd1 T A 4: 129,847,423 (GRCm39) C537* probably null Het
Syt14 T C 1: 192,584,161 (GRCm39) E701G probably damaging Het
Taf3 T C 2: 9,923,028 (GRCm39) Y32C possibly damaging Het
Tfeb T C 17: 48,100,735 (GRCm39) probably null Het
Ttc13 C A 8: 125,426,426 (GRCm39) R168L probably damaging Het
Vmn2r11 T A 5: 109,201,350 (GRCm39) N385Y probably damaging Het
Vmn2r54 T C 7: 12,363,792 (GRCm39) K367R 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
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
R6522:Clec2i UTSW 6 128,870,692 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGGAATGTGACCCTCAGTTAC -3'
(R):5'- ACATACTCTCTGCCCCTGAG -3'

Sequencing Primer
(F):5'- CCTCCTGTTATCTCTAGAGAAAGTTG -3'
(R):5'- TCTGCCCCTGAGCCACAC -3'
Posted On 2018-09-12