Incidental Mutation 'YA93:Chodl'
ID85
Institutional Source Beutler Lab
Gene Symbol Chodl
Ensembl Gene ENSMUSG00000022860
Gene Namechondrolectin
SynonymsMT75, 3110074E07Rik, PRED12
Accession Numbers

Genbank: NM_139134 ; MGI: 2179069

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #YA93 of strain inept
Quality Score
Status Validated
Chromosome16
Chromosomal Location78930948-78951733 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78941282 bp
ZygosityHomozygous
Amino Acid Change Histidine to Arginine at position 46 (H46R)
Ref Sequence ENSEMBL: ENSMUSP00000109854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023568] [ENSMUST00000069148] [ENSMUST00000114216] [ENSMUST00000232415]
Predicted Effect probably benign
Transcript: ENSMUST00000023568
AA Change: H46R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023568
Gene: ENSMUSG00000022860
AA Change: H46R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 31 179 4.07e-25 SMART
transmembrane domain 218 240 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069148
AA Change: H46R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000063961
Gene: ENSMUSG00000022860
AA Change: H46R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 31 179 4.07e-25 SMART
transmembrane domain 218 240 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114216
AA Change: H46R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109854
Gene: ENSMUSG00000022860
AA Change: H46R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 31 179 4.07e-25 SMART
transmembrane domain 218 240 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231883
Predicted Effect probably benign
Transcript: ENSMUST00000232415
AA Change: H46R

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 81.3%
Validation Efficiency 88% (101/115)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 C T 1: 34,732,217 R1202W probably benign Het
B4galnt4 T A 7: 141,067,411 I358K possibly damaging Homo
Cubn C A 2: 13,383,992 R1468L probably benign Het
Dlg5 G A 14: 24,155,133 probably benign Het
Dntt A C 19: 41,053,187 M437L probably benign Het
Gm8251 A G 1: 44,065,085 probably benign Het
Grsf1 G A 5: 88,673,735 P157S probably damaging Het
Lct C T 1: 128,301,320 G812D probably damaging Het
Osbpl5 T A 7: 143,693,870 I720F probably benign Homo
Pbld2 T A 10: 63,054,445 Y211N possibly damaging Het
Peg3 T A 7: 6,711,647 E192V probably damaging Het
Ptbp3 T C 4: 59,524,413 T38A possibly damaging Het
Rpap3 T A 15: 97,693,233 E241V possibly damaging Het
Scara3 C A 14: 65,930,949 M406I probably damaging Het
Serpinf2 C A 11: 75,432,684 V399L probably benign Het
Other mutations in Chodl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Chodl APN 16 78941263 missense probably damaging 1.00
IGL01632:Chodl APN 16 78944564 intron probably benign
IGL01968:Chodl APN 16 78941669 missense probably damaging 1.00
IGL03095:Chodl APN 16 78941433 missense probably damaging 1.00
R0125:Chodl UTSW 16 78941423 missense probably damaging 1.00
R1852:Chodl UTSW 16 78941258 missense probably benign 0.01
R1938:Chodl UTSW 16 78941426 missense possibly damaging 0.77
R2109:Chodl UTSW 16 78941363 missense possibly damaging 0.58
R4362:Chodl UTSW 16 78944658 critical splice donor site probably null
R4502:Chodl UTSW 16 78931444 missense possibly damaging 0.65
R5299:Chodl UTSW 16 78941408 missense probably damaging 0.99
R5386:Chodl UTSW 16 78946697 missense probably damaging 1.00
R5677:Chodl UTSW 16 78941315 missense probably damaging 1.00
R6959:Chodl UTSW 16 78946684 missense probably damaging 1.00
R7138:Chodl UTSW 16 78941447 missense probably damaging 1.00
R7147:Chodl UTSW 16 78946741 missense probably damaging 1.00
R8065:Chodl UTSW 16 78946713 missense probably damaging 1.00
R8067:Chodl UTSW 16 78946713 missense probably damaging 1.00
R8193:Chodl UTSW 16 78941524 missense probably damaging 1.00
X0067:Chodl UTSW 16 78931373 missense possibly damaging 0.46
Z1177:Chodl UTSW 16 78941463 missense possibly damaging 0.58
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at position 558 of the Chodl transcript in exon 2 of 6 total exons. Three transcripts of the Chodl gene are displayed on Ensembl. The mutated nucleotide causes a methionine to leucine substitution at amino acid 46 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Chodl gene encodes a 273 amino acid protein that is a single-pass type I membrane protein known as Chondrolectin. Chondrolectin contains one extracellular C-type lectin domain at amino acids 35-179 and a transmembrane domain at amino acids 217-237. C-type lectin domains bind to ligands in a calcium-dependent manner (Uniprot Q9CXM0). 
 
The H46R change occurs in the C-type lectin domain and is predicted to be benign by the PolyPhen program.
Posted On2010-03-02