Incidental Mutation 'R4362:Chodl'
ID 324968
Institutional Source Beutler Lab
Gene Symbol Chodl
Ensembl Gene ENSMUSG00000022860
Gene Name chondrolectin
Synonyms MT75, PRED12, 3110074E07Rik
MMRRC Submission 041671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4362 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 78727836-78748621 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 78741546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023568] [ENSMUST00000069148] [ENSMUST00000114216] [ENSMUST00000232415]
AlphaFold Q9CXM0
Predicted Effect probably null
Transcript: ENSMUST00000023568
SMART Domains Protein: ENSMUSP00000023568
Gene: ENSMUSG00000022860

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 null
Transcript: ENSMUST00000069148
SMART Domains Protein: ENSMUSP00000063961
Gene: ENSMUSG00000022860

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 null
Transcript: ENSMUST00000114216
SMART Domains Protein: ENSMUSP00000109854
Gene: ENSMUSG00000022860

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 null
Transcript: ENSMUST00000232415
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik C T 7: 28,947,687 (GRCm39) probably benign Het
Abcc6 A G 7: 45,648,256 (GRCm39) probably benign Het
Adamts13 G A 2: 26,894,794 (GRCm39) C1034Y probably damaging Het
Atp2b4 G T 1: 133,667,669 (GRCm39) P125Q possibly damaging Het
Atp8b1 C T 18: 64,697,608 (GRCm39) R412H probably damaging Het
Bicc1 ATGTG ATG 10: 70,779,204 (GRCm39) probably null Het
Cap1 G A 4: 122,756,780 (GRCm39) P302S probably benign Het
Cplane1 T A 15: 8,300,229 (GRCm39) S3179T unknown Het
Cplx2 A T 13: 54,526,630 (GRCm39) T13S probably benign Het
Dennd5a G A 7: 109,495,550 (GRCm39) R1194W probably damaging Het
Dsc2 T A 18: 20,183,214 (GRCm39) D68V probably damaging Het
Dus4l A C 12: 31,698,827 (GRCm39) I59R probably damaging Het
Edc3 C T 9: 57,620,829 (GRCm39) P50L probably damaging Het
Ext1 G A 15: 52,970,987 (GRCm39) probably benign Het
Fam219a C T 4: 41,518,844 (GRCm39) probably benign Het
Fbxl3 A T 14: 103,329,749 (GRCm39) D106E probably damaging Het
Garem1 T C 18: 21,369,172 (GRCm39) N50D possibly damaging Het
Gins1 G A 2: 150,751,682 (GRCm39) R15H probably damaging Het
Glrx2 A G 1: 143,617,418 (GRCm39) K44R possibly damaging Het
Icam1 A G 9: 20,937,608 (GRCm39) D215G possibly damaging Het
Nedd9 A T 13: 41,471,429 (GRCm39) I184N probably damaging Het
Or10a2 T C 7: 106,673,799 (GRCm39) S255P probably damaging Het
Or1e21 T C 11: 73,344,391 (GRCm39) M216V probably benign Het
Otulinl C T 15: 27,664,429 (GRCm39) probably null Het
Rhot2 A G 17: 26,061,065 (GRCm39) C147R probably damaging Het
Saxo4 T C 19: 10,452,385 (GRCm39) Y375C probably damaging Het
Setd4 T C 16: 93,380,574 (GRCm39) probably null Het
Slc6a4 A G 11: 76,907,904 (GRCm39) N356S probably damaging Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tmem168 A C 6: 13,595,072 (GRCm39) I381S probably benign Het
Tnfrsf11b T A 15: 54,119,555 (GRCm39) T140S possibly damaging Het
Ttpa G T 4: 20,023,827 (GRCm39) E130* probably null Het
Ubr5 A G 15: 38,078,647 (GRCm39) V8A probably damaging Het
Vmn2r18 C T 5: 151,496,368 (GRCm39) C450Y probably damaging Het
Vmn2r32 A T 7: 7,482,857 (GRCm39) L39* probably null Het
Other mutations in Chodl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Chodl APN 16 78,738,151 (GRCm39) missense probably damaging 1.00
IGL01632:Chodl APN 16 78,741,452 (GRCm39) intron probably benign
IGL01968:Chodl APN 16 78,738,557 (GRCm39) missense probably damaging 1.00
IGL03095:Chodl APN 16 78,738,321 (GRCm39) missense probably damaging 1.00
R0125:Chodl UTSW 16 78,738,311 (GRCm39) missense probably damaging 1.00
R1852:Chodl UTSW 16 78,738,146 (GRCm39) missense probably benign 0.01
R1938:Chodl UTSW 16 78,738,314 (GRCm39) missense possibly damaging 0.77
R2109:Chodl UTSW 16 78,738,251 (GRCm39) missense possibly damaging 0.58
R4502:Chodl UTSW 16 78,728,332 (GRCm39) missense possibly damaging 0.65
R5299:Chodl UTSW 16 78,738,296 (GRCm39) missense probably damaging 0.99
R5386:Chodl UTSW 16 78,743,585 (GRCm39) missense probably damaging 1.00
R5677:Chodl UTSW 16 78,738,203 (GRCm39) missense probably damaging 1.00
R6959:Chodl UTSW 16 78,743,572 (GRCm39) missense probably damaging 1.00
R7138:Chodl UTSW 16 78,738,335 (GRCm39) missense probably damaging 1.00
R7147:Chodl UTSW 16 78,743,629 (GRCm39) missense probably damaging 1.00
R8065:Chodl UTSW 16 78,743,601 (GRCm39) missense probably damaging 1.00
R8067:Chodl UTSW 16 78,743,601 (GRCm39) missense probably damaging 1.00
R8193:Chodl UTSW 16 78,738,412 (GRCm39) missense probably damaging 1.00
R8924:Chodl UTSW 16 78,738,659 (GRCm39) missense possibly damaging 0.70
R9329:Chodl UTSW 16 78,746,030 (GRCm39) missense possibly damaging 0.83
X0067:Chodl UTSW 16 78,728,261 (GRCm39) missense possibly damaging 0.46
YA93:Chodl UTSW 16 78,738,170 (GRCm39) missense probably benign 0.11
Z1177:Chodl UTSW 16 78,738,351 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- TGCCTGCAAACTATTCAGAAATC -3'
(R):5'- ACTTTCATACTAGATGGTTCCATTTCA -3'

Sequencing Primer
(F):5'- TCCAATAGCTGACTGTGAGC -3'
(R):5'- TAACGTACCACATCCCTGA -3'
Posted On 2015-07-06