Incidental Mutation 'R5228:Clec2h'
ID 402729
Institutional Source Beutler Lab
Gene Symbol Clec2h
Ensembl Gene ENSMUSG00000030364
Gene Name C-type lectin domain family 2, member h
Synonyms Clrf
MMRRC Submission 042801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5228 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 128639348-128654337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 128651749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 153 (A153S)
Ref Sequence ENSEMBL: ENSMUSP00000032518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032518] [ENSMUST00000204416] [ENSMUST00000205225]
AlphaFold Q8C1T8
Predicted Effect probably benign
Transcript: ENSMUST00000032518
AA Change: A153S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032518
Gene: ENSMUSG00000030364
AA Change: A153S

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
CLECT 90 201 3.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204416
SMART Domains Protein: ENSMUSP00000145202
Gene: ENSMUSG00000030364

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204728
Predicted Effect probably benign
Transcript: ENSMUST00000205225
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,303,545 (GRCm39) probably null Het
Agrn G T 4: 156,251,403 (GRCm39) A1864D probably damaging Het
Ahnak2 A G 12: 112,741,820 (GRCm39) S751P probably benign Het
Aifm2 T C 10: 61,568,196 (GRCm39) V201A probably damaging Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Dnah7a T C 1: 53,476,768 (GRCm39) probably null Het
Frmpd1 T C 4: 45,284,322 (GRCm39) S1048P probably damaging Het
Galnt16 A T 12: 80,630,822 (GRCm39) D300V probably damaging Het
Gbp8 G T 5: 105,164,051 (GRCm39) Q416K probably benign Het
Gldn C T 9: 54,242,003 (GRCm39) T319I probably damaging Het
Gli2 T A 1: 118,763,936 (GRCm39) D1405V probably damaging Het
Gtsf2 A G 15: 103,353,042 (GRCm39) Y45H probably damaging Het
Hmcn1 C A 1: 150,522,452 (GRCm39) V3483F probably benign Het
Hspa12b T C 2: 130,984,884 (GRCm39) V385A possibly damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Inpp4b C G 8: 82,494,744 (GRCm39) P53R probably damaging Het
Ipo7 T A 7: 109,645,969 (GRCm39) C504S probably benign Het
Iws1 A G 18: 32,221,314 (GRCm39) D549G probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Klhl40 A G 9: 121,606,867 (GRCm39) E9G probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Morc2a T C 11: 3,635,439 (GRCm39) V810A probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
N4bp2 T C 5: 65,964,861 (GRCm39) V970A probably benign Het
Pira2 T A 7: 3,847,373 (GRCm39) K105N probably benign Het
Pml G A 9: 58,127,280 (GRCm39) R61C probably damaging Het
Pms2 T C 5: 143,860,415 (GRCm39) L76P probably damaging Het
Rlbp1 T G 7: 79,027,082 (GRCm39) T193P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGG 11: 3,103,384 (GRCm39) probably benign Homo
Sh3rf2 T C 18: 42,286,246 (GRCm39) S548P possibly damaging Het
Slc4a4 A G 5: 89,304,384 (GRCm39) D609G possibly damaging Het
Slk A T 19: 47,613,771 (GRCm39) I876F probably damaging Het
Tcf20 G A 15: 82,740,156 (GRCm39) P432S probably benign Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Topors G C 4: 40,262,367 (GRCm39) L306V probably damaging Het
Trappc9 A T 15: 72,929,844 (GRCm39) S171T probably damaging Het
Ube2m G T 7: 12,769,697 (GRCm39) probably benign Het
Vmn1r37 T C 6: 66,709,282 (GRCm39) *266Q probably null Het
Vmn2r34 T C 7: 7,675,340 (GRCm39) T683A probably damaging Het
Other mutations in Clec2h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02198:Clec2h APN 6 128,650,979 (GRCm39) nonsense probably null
IGL02828:Clec2h APN 6 128,652,885 (GRCm39) missense probably benign 0.00
R0299:Clec2h UTSW 6 128,647,858 (GRCm39) missense probably damaging 1.00
R1169:Clec2h UTSW 6 128,651,758 (GRCm39) nonsense probably null
R1860:Clec2h UTSW 6 128,652,790 (GRCm39) missense probably damaging 1.00
R1893:Clec2h UTSW 6 128,647,795 (GRCm39) missense probably benign 0.06
R2240:Clec2h UTSW 6 128,652,845 (GRCm39) missense probably benign 0.02
R2507:Clec2h UTSW 6 128,650,945 (GRCm39) missense probably benign 0.02
R4530:Clec2h UTSW 6 128,639,457 (GRCm39) missense possibly damaging 0.95
R4771:Clec2h UTSW 6 128,651,118 (GRCm39) missense probably damaging 1.00
R4899:Clec2h UTSW 6 128,652,787 (GRCm39) missense probably benign 0.03
R5414:Clec2h UTSW 6 128,651,749 (GRCm39) missense probably benign 0.04
R8058:Clec2h UTSW 6 128,650,966 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- AGAACTGAGGGTCATTATAGCTC -3'
(R):5'- TGAGCCACACCTGCACTTTG -3'

Sequencing Primer
(F):5'- TCCAAAATTGAAGACCCTGAGTTAC -3'
(R):5'- CCACACCTGCACTTTGAAGATTTATG -3'
Posted On 2016-07-22