Incidental Mutation 'R0844:Cnmd'
ID 77304
Institutional Source Beutler Lab
Gene Symbol Cnmd
Ensembl Gene ENSMUSG00000022025
Gene Name chondromodulin
Synonyms Bricd3, Chondromodulin 1, Chmd, ChM-I, Lect1
MMRRC Submission 039023-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0844 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 79875130-79899610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79879391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 249 (T249I)
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: T245I

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022603
Gene: ENSMUSG00000022025
AA Change: T245I

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: T249I

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126958
Gene: ENSMUSG00000022025
AA Change: T249I

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 0.0614 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 100% (27/27)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik T C 12: 55,126,858 (GRCm39) D2G possibly damaging Het
Abca5 T C 11: 110,210,658 (GRCm39) T174A probably benign Het
Asb2 T C 12: 103,291,805 (GRCm39) H374R probably damaging Het
Clca4b A G 3: 144,622,532 (GRCm39) I511T probably damaging Het
Cyp4a12b T G 4: 115,289,721 (GRCm39) M196R possibly damaging Het
Ddx60 T C 8: 62,440,395 (GRCm39) Y1016H probably benign Het
Elapor1 T C 3: 108,388,279 (GRCm39) probably benign Het
Ero1a A G 14: 45,530,457 (GRCm39) L325P probably damaging Het
Etv1 T C 12: 38,911,353 (GRCm39) L393P probably damaging Het
Fdx1 G T 9: 51,859,909 (GRCm39) D33E probably damaging Het
Gpr180 T C 14: 118,395,359 (GRCm39) C264R probably damaging Het
Grik2 A T 10: 48,977,211 (GRCm39) M907K possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Klrh1 C G 6: 129,752,756 (GRCm39) K16N possibly damaging Het
Mpdz A G 4: 81,339,431 (GRCm39) probably benign Het
Myo9b C T 8: 71,743,119 (GRCm39) S60L probably benign Het
Naxe A T 3: 87,965,715 (GRCm39) V28E probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Otog T C 7: 45,937,252 (GRCm39) S1654P possibly damaging Het
Setd1b C T 5: 123,298,748 (GRCm39) probably benign Het
Spag17 A G 3: 99,912,101 (GRCm39) T324A probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tbc1d12 G T 19: 38,825,515 (GRCm39) R122L probably benign Het
Tmx4 A G 2: 134,441,928 (GRCm39) probably null Het
Trnt1 A G 6: 106,751,464 (GRCm39) D147G probably damaging Het
Trpm7 A T 2: 126,677,428 (GRCm39) V463E probably damaging Het
Wdr82 G A 9: 106,065,780 (GRCm39) probably benign 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
R0529:Cnmd UTSW 14 79,879,481 (GRCm39) missense probably benign 0.00
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
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'- TGTGCCGAATGGATGACCAGAGTG -3'
(R):5'- CGGTTTTCAACCAGCTTCCAGTGTC -3'

Sequencing Primer
(F):5'- acaaaaacaaacaaacaaaaaaacCC -3'
(R):5'- TGCAATCGTCACTCTAAAATGCAG -3'
Posted On 2013-10-16