Incidental Mutation 'R2401:Cnmd'
ID 248705
Institutional Source Beutler Lab
Gene Symbol Cnmd
Ensembl Gene ENSMUSG00000022025
Gene Name chondromodulin
Synonyms Chondromodulin 1, Bricd3, ChM-I
MMRRC Submission 040367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2401 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 79637690-79662170 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79656605 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 114 (V114A)
Ref Sequence ENSEMBL: ENSMUSP00000022603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022603] [ENSMUST00000165835]
AlphaFold Q9Z1F6
Predicted Effect probably damaging
Transcript: ENSMUST00000022603
AA Change: V114A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022603
Gene: ENSMUSG00000022025
AA Change: V114A

transmembrane domain 43 65 N/A INTRINSIC
BRICHOS 105 201 1.24e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165835
AA Change: V114A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126958
Gene: ENSMUSG00000022025
AA Change: V114A

transmembrane domain 44 66 N/A INTRINSIC
BRICHOS 105 201 1.24e-33 SMART
Meta Mutation Damage Score 0.4738 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,283,089 L1158P probably damaging Het
Acnat1 A T 4: 49,451,077 N11K possibly damaging Het
Ammecr1l T A 18: 31,776,003 I217N possibly damaging Het
Ankrd11 G A 8: 122,908,734 R54* probably null Het
Ccdc178 C T 18: 22,131,414 probably null Het
Ccdc36 G T 9: 108,413,006 T133N possibly damaging Het
Clcn7 T C 17: 25,153,140 S425P probably benign Het
Col13a1 T C 10: 61,851,162 T651A unknown Het
Col1a2 G A 6: 4,518,822 probably benign Het
Cyp3a25 T C 5: 145,986,968 probably null Het
Dmrta1 A T 4: 89,691,616 D271V probably benign Het
Efcab3 T A 11: 105,072,318 probably null Het
Exo5 T C 4: 120,921,997 I224V probably damaging Het
Fam162b C A 10: 51,587,218 A118S probably damaging Het
Glb1 A G 9: 114,454,257 T406A possibly damaging Het
Grk3 T C 5: 112,914,983 N666S probably benign Het
Hars2 T C 18: 36,789,523 F370L possibly damaging Het
Ighv8-11 T G 12: 115,567,603 probably benign Het
Inpp4b A T 8: 81,997,339 D500V probably benign Het
Itgb4 A G 11: 116,006,563 D1534G possibly damaging Het
Kcnk2 G C 1: 189,340,017 T38S possibly damaging Het
Kif16b C T 2: 142,756,122 V527I probably benign Het
Kmt2b A G 7: 30,576,708 Y1789H probably damaging Het
Lpl A C 8: 68,901,243 D412A possibly damaging Het
Lrrc27 T G 7: 139,223,613 L151R probably damaging Het
Muc3 T C 5: 137,154,041 probably benign Het
Nup205 T A 6: 35,208,134 Y829* probably null Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfm4 A G 14: 80,021,752 Y447C probably damaging Het
Olfr1308 T C 2: 111,960,149 Y308C probably benign Het
Pcdhb6 T C 18: 37,335,169 V381A probably benign Het
Prmt2 C T 10: 76,225,415 W79* probably null Het
Skiv2l T C 17: 34,840,385 M1029V probably benign Het
Stil A G 4: 115,016,286 R369G probably null Het
Ttc41 T C 10: 86,724,374 I387T probably benign Het
Tubgcp6 A G 15: 89,102,984 L1262P probably benign Het
Vmn2r112 T A 17: 22,603,115 V258E probably damaging Het
Zfp804b T C 5: 6,769,445 H1206R probably damaging Het
Other mutations in Cnmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Cnmd APN 14 79642068 splice site probably benign
IGL02556:Cnmd APN 14 79661960 missense probably benign 0.00
IGL03034:Cnmd APN 14 79641928 missense probably benign
R0529:Cnmd UTSW 14 79642041 missense probably benign 0.00
R0811:Cnmd UTSW 14 79661423 missense probably damaging 1.00
R0812:Cnmd UTSW 14 79661423 missense probably damaging 1.00
R0844:Cnmd UTSW 14 79641951 missense probably benign 0.37
R2419:Cnmd UTSW 14 79638048 missense probably damaging 1.00
R3697:Cnmd UTSW 14 79637981 missense probably damaging 1.00
R4640:Cnmd UTSW 14 79656653 missense probably damaging 1.00
R4841:Cnmd UTSW 14 79650322 missense possibly damaging 0.94
R4845:Cnmd UTSW 14 79662008 missense probably benign
R5157:Cnmd UTSW 14 79656686 missense probably benign 0.39
R5959:Cnmd UTSW 14 79656669 missense probably damaging 1.00
R6033:Cnmd UTSW 14 79661505 missense probably benign 0.00
R6033:Cnmd UTSW 14 79661505 missense probably benign 0.00
R7421:Cnmd UTSW 14 79645507 missense probably benign 0.25
R7640:Cnmd UTSW 14 79661534 missense possibly damaging 0.86
R8007:Cnmd UTSW 14 79637966 missense probably damaging 1.00
R8350:Cnmd UTSW 14 79645381 nonsense probably null
R8450:Cnmd UTSW 14 79645381 nonsense probably null
R9009:Cnmd UTSW 14 79656645 missense probably damaging 1.00
R9745:Cnmd UTSW 14 79650410 missense possibly damaging 0.51
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-11-11