Incidental Mutation 'R8450:Cnmd'
ID 654729
Institutional Source Beutler Lab
Gene Symbol Cnmd
Ensembl Gene ENSMUSG00000022025
Gene Name chondromodulin
Synonyms Bricd3, Chondromodulin 1, Chmd, ChM-I, Lect1
MMRRC Submission 067830-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8450 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 79875130-79899610 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 79882821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 202 (K202*)
Ref Sequence ENSEMBL: ENSMUSP00000126958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022603] [ENSMUST00000165835]
AlphaFold Q9Z1F6
Predicted Effect probably null
Transcript: ENSMUST00000022603
AA Change: K202*
SMART Domains Protein: ENSMUSP00000022603
Gene: ENSMUSG00000022025
AA Change: K202*

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
BRICHOS 105 201 1.24e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000165835
AA Change: K202*
SMART Domains Protein: ENSMUSP00000126958
Gene: ENSMUSG00000022025
AA Change: K202*

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
BRICHOS 105 201 1.24e-33 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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
1700123K08Rik G A 5: 138,561,188 (GRCm39) T158M probably benign Het
Adgrv1 T A 13: 81,583,962 (GRCm39) probably null Het
Arhgef2 G A 3: 88,553,527 (GRCm39) R886H probably damaging Het
Armc12 T A 17: 28,751,031 (GRCm39) D82E probably damaging Het
Atg2a T C 19: 6,296,841 (GRCm39) S382P probably benign Het
Bola1 G A 3: 96,104,573 (GRCm39) A7V probably benign Het
Cep170 A G 1: 176,564,445 (GRCm39) L271S Het
Cers3 T C 7: 66,414,090 (GRCm39) F92S possibly damaging Het
Chmp4c A T 3: 10,450,746 (GRCm39) M109L possibly damaging Het
Cnp T C 11: 100,467,267 (GRCm39) I70T probably damaging Het
Col27a1 C A 4: 63,248,134 (GRCm39) T1721K unknown Het
Crtac1 G A 19: 42,297,625 (GRCm39) R242W probably damaging Het
Cry2 T C 2: 92,244,286 (GRCm39) R296G probably benign Het
Cyp2t4 A G 7: 26,856,806 (GRCm39) D282G possibly damaging Het
Dip2a G T 10: 76,100,690 (GRCm39) T1495N probably damaging Het
Dmbt1 T C 7: 130,687,147 (GRCm39) probably null Het
Dmp1 A T 5: 104,360,765 (GRCm39) K480N probably damaging Het
Dnah17 A G 11: 117,977,873 (GRCm39) S1820P probably damaging Het
Dnah6 A G 6: 73,172,798 (GRCm39) V220A probably benign Het
Eif4a3l1 C T 6: 136,306,241 (GRCm39) T234I possibly damaging Het
Epha3 T C 16: 63,472,853 (GRCm39) D344G possibly damaging Het
Esyt2 C A 12: 116,327,102 (GRCm39) Q557K probably damaging Het
Fam72a A T 1: 131,461,663 (GRCm39) D116V probably damaging Het
Fam81a T C 9: 70,032,300 (GRCm39) N64S probably damaging Het
Fat3 T A 9: 15,826,435 (GRCm39) T358S Het
Frat2 A T 19: 41,836,223 (GRCm39) I43N probably damaging Het
Fryl A T 5: 73,226,073 (GRCm39) D1863E probably benign Het
Gm29735 ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA 7: 141,710,266 (GRCm39) probably benign Het
Gm43302 A T 5: 105,422,573 (GRCm39) probably null Het
Grid2ip A G 5: 143,363,273 (GRCm39) Y422C probably damaging Het
Hap1 T G 11: 100,240,107 (GRCm39) D563A probably damaging Het
Hbb-bs T C 7: 103,475,951 (GRCm39) D122G probably benign Het
Hs3st3b1 G C 11: 63,780,390 (GRCm39) P246A probably benign Het
Hsd17b4 T G 18: 50,297,734 (GRCm39) L341R probably benign Het
Kbtbd11 G A 8: 15,078,603 (GRCm39) V401M probably damaging Het
Lss T A 10: 76,371,429 (GRCm39) L120Q probably damaging Het
Mdc1 T G 17: 36,159,191 (GRCm39) S524A probably benign Het
Myoz3 T C 18: 60,712,074 (GRCm39) Y168C probably damaging Het
Nceh1 C A 3: 27,293,813 (GRCm39) D190E probably damaging Het
Neb T C 2: 52,096,194 (GRCm39) R5039G probably benign Het
Nup50 T A 15: 84,819,476 (GRCm39) V250E probably benign Het
Pcnx3 T A 19: 5,723,254 (GRCm39) N1314Y probably damaging Het
Pdzk1 A G 3: 96,759,024 (GRCm39) N143S probably benign Het
Rnf223 T G 4: 156,217,120 (GRCm39) L165R probably damaging Het
Sbf1 A T 15: 89,183,712 (GRCm39) F1267Y probably damaging Het
Scrn3 T G 2: 73,160,113 (GRCm39) I252R possibly damaging Het
Sdr39u1 T C 14: 56,135,363 (GRCm39) I193M probably damaging Het
Sh2d7 A G 9: 54,448,191 (GRCm39) R71G probably benign Het
Slc12a9 C A 5: 137,313,737 (GRCm39) V741L probably benign Het
Syk T C 13: 52,774,935 (GRCm39) L225P probably damaging Het
Tbx1 A T 16: 18,400,795 (GRCm39) V463E unknown Het
Tmem67 C T 4: 12,087,891 (GRCm39) R19H probably benign Het
Ttn T A 2: 76,609,108 (GRCm39) I17666F possibly damaging Het
Vcpip1 A G 1: 9,794,831 (GRCm39) V1180A probably benign Het
Vps13a C T 19: 16,631,871 (GRCm39) probably null Het
Wdr27 T C 17: 15,152,787 (GRCm39) T107A probably benign Het
Zfp106 T C 2: 120,366,099 (GRCm39) R58G 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
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
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'- GGCATAGTGAGTGCTCTGTC -3'
(R):5'- TAGCCCGATTCAGCAAGCAG -3'

Sequencing Primer
(F):5'- TTCCACGCTGCAGGAAC -3'
(R):5'- GCAGCATGCACCACCCTC -3'
Posted On 2020-10-20