Incidental Mutation 'R0529:Cnmd'
ID 49071
Institutional Source Beutler Lab
Gene Symbol Cnmd
Ensembl Gene ENSMUSG00000022025
Gene Name chondromodulin
Synonyms Bricd3, Chondromodulin 1, Chmd, ChM-I, Lect1
MMRRC Submission 038721-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0529 (G1)
Quality Score 180
Status Validated
Chromosome 14
Chromosomal Location 79875130-79899610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79879481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 219 (E219G)
Ref Sequence ENSEMBL: ENSMUSP00000126958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022603] [ENSMUST00000165835]
AlphaFold Q9Z1F6
Predicted Effect probably benign
Transcript: ENSMUST00000022603
AA Change: E215G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022603
Gene: ENSMUSG00000022025
AA Change: E215G

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
BRICHOS 105 201 1.24e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165204
Predicted Effect probably benign
Transcript: ENSMUST00000165835
AA Change: E219G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126958
Gene: ENSMUSG00000022025
AA Change: E219G

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
BRICHOS 105 201 1.24e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172331
Meta Mutation Damage Score 0.0713 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and show no gross morphologic defects. While cartilage development and embryonic endochondral bone formation were found to be normal in mutant mice, one line of targeted mutants showed increased bone density and impairedbone resorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,211,228 (GRCm39) V126I probably benign Het
Aasdh A C 5: 77,024,114 (GRCm39) Y179* probably null Het
Afp A G 5: 90,652,254 (GRCm39) Y415C probably damaging Het
Aldh5a1 G T 13: 25,097,856 (GRCm39) T393K probably benign Het
Arhgef26 T C 3: 62,247,146 (GRCm39) S77P probably benign Het
Axl A G 7: 25,486,712 (GRCm39) probably benign Het
Card10 A G 15: 78,664,675 (GRCm39) probably null Het
Ccdc71l G A 12: 32,429,251 (GRCm39) S90N probably damaging Het
Cebpa A T 7: 34,819,624 (GRCm39) T261S probably benign Het
Cntln T A 4: 84,986,062 (GRCm39) L1010H probably damaging Het
Cul9 A G 17: 46,831,394 (GRCm39) probably benign Het
Cyld A G 8: 89,456,387 (GRCm39) E479G probably benign Het
Dmp1 A G 5: 104,360,092 (GRCm39) E256G probably benign Het
Dnmt1 T C 9: 20,822,846 (GRCm39) D1140G probably damaging Het
Drd2 A C 9: 49,318,374 (GRCm39) M439L probably benign Het
Drd3 G A 16: 43,643,077 (GRCm39) V438M probably damaging Het
Dyrk3 A G 1: 131,057,858 (GRCm39) I70T probably benign Het
Fbxo38 T C 18: 62,639,057 (GRCm39) K1082E probably damaging Het
Fbxw10 A C 11: 62,750,671 (GRCm39) D428A probably damaging Het
Fmn1 T A 2: 113,538,198 (GRCm39) probably benign Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Gda T A 19: 21,402,901 (GRCm39) I82F probably damaging Het
Gpatch4 T A 3: 87,958,583 (GRCm39) H22Q probably damaging Het
Gpr55 A G 1: 85,869,225 (GRCm39) F119L probably benign Het
Gtf2i A T 5: 134,290,723 (GRCm39) L425* probably null Het
Knstrn T A 2: 118,661,461 (GRCm39) probably benign Het
Lipo2 T A 19: 33,724,335 (GRCm39) I144L probably benign Het
Lrp1 T C 10: 127,377,463 (GRCm39) probably null Het
Mtmr14 T C 6: 113,243,213 (GRCm39) probably benign Het
Nsmce4a A T 7: 130,135,536 (GRCm39) S345R probably benign Het
Oacyl T A 18: 65,875,290 (GRCm39) V385D probably damaging Het
Or6k8-ps1 G A 1: 173,979,696 (GRCm39) A205T probably benign Het
Or8b52 A T 9: 38,576,808 (GRCm39) C111S probably benign Het
Phlpp2 T C 8: 110,603,603 (GRCm39) S55P probably benign Het
Pkhd1l1 T A 15: 44,390,150 (GRCm39) V1422E possibly damaging Het
Plcd3 T G 11: 102,971,013 (GRCm39) H181P probably benign Het
Psmc5 G A 11: 106,151,990 (GRCm39) probably null Het
Psmd11 T C 11: 80,361,515 (GRCm39) probably benign Het
Rab39 T C 9: 53,598,016 (GRCm39) Y83C probably damaging Het
Ric8a A G 7: 140,440,806 (GRCm39) E93G probably damaging Het
Rtp3 T C 9: 110,816,152 (GRCm39) E133G possibly damaging Het
Serpina1e A C 12: 103,915,363 (GRCm39) L281R probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Tent5c A G 3: 100,379,686 (GRCm39) Y357H probably benign Het
Tmem63a A T 1: 180,788,659 (GRCm39) E332V probably benign Het
Tnk1 T C 11: 69,745,990 (GRCm39) T312A probably damaging Het
Traf3ip3 G T 1: 192,877,119 (GRCm39) probably benign Het
Trappc11 A G 8: 47,980,014 (GRCm39) V174A possibly damaging Het
Vmn1r174 G A 7: 23,453,622 (GRCm39) R96H probably benign Het
Vmn1r7 T A 6: 57,001,450 (GRCm39) Y270F possibly damaging Het
Vmn2r12 A G 5: 109,240,714 (GRCm39) V133A probably benign Het
Vmn2r18 T A 5: 151,485,988 (GRCm39) E502V probably damaging Het
Wipf3 C A 6: 54,462,348 (GRCm39) P186Q probably damaging Het
Yipf5 A T 18: 40,345,215 (GRCm39) M55K probably benign Het
Zbtb7a G A 10: 80,979,820 (GRCm39) V5M probably damaging Het
Zfy1 G T Y: 726,040 (GRCm39) S575Y probably damaging Het
Other mutations in Cnmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Cnmd APN 14 79,879,508 (GRCm39) splice site probably benign
IGL02556:Cnmd APN 14 79,899,400 (GRCm39) missense probably benign 0.00
IGL03034:Cnmd APN 14 79,879,368 (GRCm39) missense probably benign
R0811:Cnmd UTSW 14 79,898,863 (GRCm39) missense probably damaging 1.00
R0812:Cnmd UTSW 14 79,898,863 (GRCm39) missense probably damaging 1.00
R0844:Cnmd UTSW 14 79,879,391 (GRCm39) missense probably benign 0.37
R2401:Cnmd UTSW 14 79,894,045 (GRCm39) missense probably damaging 0.98
R2419:Cnmd UTSW 14 79,875,488 (GRCm39) missense probably damaging 1.00
R3697:Cnmd UTSW 14 79,875,421 (GRCm39) missense probably damaging 1.00
R4640:Cnmd UTSW 14 79,894,093 (GRCm39) missense probably damaging 1.00
R4841:Cnmd UTSW 14 79,887,762 (GRCm39) missense possibly damaging 0.94
R4845:Cnmd UTSW 14 79,899,448 (GRCm39) missense probably benign
R5157:Cnmd UTSW 14 79,894,126 (GRCm39) missense probably benign 0.39
R5959:Cnmd UTSW 14 79,894,109 (GRCm39) missense probably damaging 1.00
R6033:Cnmd UTSW 14 79,898,945 (GRCm39) missense probably benign 0.00
R6033:Cnmd UTSW 14 79,898,945 (GRCm39) missense probably benign 0.00
R7421:Cnmd UTSW 14 79,882,947 (GRCm39) missense probably benign 0.25
R7640:Cnmd UTSW 14 79,898,974 (GRCm39) missense possibly damaging 0.86
R8007:Cnmd UTSW 14 79,875,406 (GRCm39) missense probably damaging 1.00
R8350:Cnmd UTSW 14 79,882,821 (GRCm39) nonsense probably null
R8450:Cnmd UTSW 14 79,882,821 (GRCm39) nonsense probably null
R9009:Cnmd UTSW 14 79,894,085 (GRCm39) missense probably damaging 1.00
R9745:Cnmd UTSW 14 79,887,850 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- ACTCTTTCAGCACCACATGCAATGC -3'
(R):5'- AACAGACGGTTTTCAACCAGCTTCC -3'

Sequencing Primer
(F):5'- CATTGGGTCTGGTTCCGTTA -3'
(R):5'- AACCAGCTTCCAGTGTCTG -3'
Posted On 2013-06-12