Incidental Mutation 'R2419:Cnmd'
ID 249165
Institutional Source Beutler Lab
Gene Symbol Cnmd
Ensembl Gene ENSMUSG00000022025
Gene Name chondromodulin
Synonyms Bricd3, Chondromodulin 1, Chmd, ChM-I, Lect1
MMRRC Submission 040381-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2419 (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 79875488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 311 (P311S)
Ref Sequence ENSEMBL: ENSMUSP00000126958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022603] [ENSMUST00000054908] [ENSMUST00000165835]
AlphaFold Q9Z1F6
Predicted Effect probably damaging
Transcript: ENSMUST00000022603
AA Change: P307S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022603
Gene: ENSMUSG00000022025
AA Change: P307S

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
BRICHOS 105 201 1.24e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054908
SMART Domains Protein: ENSMUSP00000052942
Gene: ENSMUSG00000022024

DomainStartEndE-ValueType
Pfam:TPR_11 18 76 6.9e-14 PFAM
Pfam:TPR_9 24 53 7.1e-3 PFAM
Pfam:TPR_17 33 66 6.1e-7 PFAM
Pfam:TPR_1 45 78 1.2e-7 PFAM
Pfam:TPR_2 45 78 1.2e-6 PFAM
Pfam:TPR_8 45 78 2.3e-4 PFAM
Blast:TPR 80 112 1e-11 BLAST
Pfam:CS 143 219 5.9e-24 PFAM
Pfam:SGS 256 336 1.5e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165204
Predicted Effect probably damaging
Transcript: ENSMUST00000165835
AA Change: P311S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126958
Gene: ENSMUSG00000022025
AA Change: P311S

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 0.4468 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (57/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,328,001 (GRCm39) A768T probably benign Het
Acyp2 T C 11: 30,582,316 (GRCm39) Y33C probably benign Het
Ampd3 A G 7: 110,367,576 (GRCm39) probably benign Het
Arap3 T C 18: 38,122,997 (GRCm39) D501G probably damaging Het
Arl4d A T 11: 101,557,714 (GRCm39) Q80L probably damaging Het
Bcorl1 A G X: 47,459,418 (GRCm39) T425A probably damaging Het
Ccdc38 T A 10: 93,384,837 (GRCm39) V35D probably benign Het
Cd6 G A 19: 10,770,216 (GRCm39) P492S probably damaging Het
Cdh20 G A 1: 104,902,740 (GRCm39) S477N possibly damaging Het
Cnot8 G A 11: 58,006,136 (GRCm39) G222R probably damaging Het
Dnah9 A T 11: 65,986,241 (GRCm39) L1131* probably null Het
Dscc1 G A 15: 54,946,820 (GRCm39) R302* probably null Het
Dusp18 T C 11: 3,847,018 (GRCm39) S3P possibly damaging Het
Eml2 A G 7: 18,910,620 (GRCm39) probably benign Het
Foxb2 G C 19: 16,850,325 (GRCm39) A227G probably damaging Het
Hey1 A G 3: 8,731,003 (GRCm39) probably null Het
Itk A G 11: 46,229,044 (GRCm39) F379L probably damaging Het
Kcna2 G A 3: 107,011,469 (GRCm39) G17R probably benign Het
Kif7 C A 7: 79,348,441 (GRCm39) R1300L probably benign Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Leng9 A G 7: 4,151,626 (GRCm39) V350A probably benign Het
Lmbr1l A C 15: 98,805,418 (GRCm39) F361C possibly damaging Het
Lrat A G 3: 82,810,992 (GRCm39) S10P probably damaging Het
Lrrk2 C A 15: 91,681,729 (GRCm39) probably benign Het
Mcur1 C T 13: 43,703,013 (GRCm39) V241M possibly damaging Het
Met T C 6: 17,535,829 (GRCm39) probably benign Het
Mical3 A G 6: 120,936,884 (GRCm39) V342A probably benign Het
Nup210 G A 6: 90,994,538 (GRCm39) probably benign Het
Or1i2 T A 10: 78,448,221 (GRCm39) I85F probably benign Het
Or1j12 T A 2: 36,343,338 (GRCm39) V247E probably damaging Het
Or4c107 A G 2: 88,789,380 (GRCm39) N190S probably benign Het
Pcdhac1 T C 18: 37,224,381 (GRCm39) L398P probably benign Het
Phc3 T C 3: 31,005,027 (GRCm39) M189V probably damaging Het
Plcb1 A G 2: 135,104,020 (GRCm39) probably benign Het
Plcxd3 G T 15: 4,604,245 (GRCm39) K284N probably benign Het
Plxnb2 A G 15: 89,045,272 (GRCm39) V1058A possibly damaging Het
Rbbp5 T C 1: 132,421,564 (GRCm39) I88T possibly damaging Het
Rfpl4b T C 10: 38,697,368 (GRCm39) R78G probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Samt2 A T X: 153,358,223 (GRCm39) probably null Het
Sdad1 T C 5: 92,453,677 (GRCm39) H37R possibly damaging Het
Setd2 T A 9: 110,378,065 (GRCm39) F627I possibly damaging Het
Ski A G 4: 155,245,350 (GRCm39) S293P probably benign Het
Slc27a1 A G 8: 72,032,560 (GRCm39) E191G possibly damaging Het
Snx18 T C 13: 113,753,755 (GRCm39) M393V possibly damaging Het
Spata31g1 A G 4: 42,974,146 (GRCm39) T1160A possibly damaging Het
Tacc1 A G 8: 25,672,829 (GRCm39) V42A possibly damaging Het
Tbc1d8 A G 1: 39,415,983 (GRCm39) F897L probably damaging Het
Tenm3 C T 8: 48,729,693 (GRCm39) D1438N possibly damaging Het
Tmem62 G A 2: 120,837,586 (GRCm39) G501E probably damaging Het
Tmem94 A G 11: 115,687,641 (GRCm39) K1167E probably damaging Het
Trap1 A G 16: 3,886,194 (GRCm39) S88P probably benign Het
Ugt2b38 T C 5: 87,571,591 (GRCm39) D147G probably damaging Het
Vmn1r168 A T 7: 23,240,824 (GRCm39) N227I probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn1r204 T G 13: 22,740,420 (GRCm39) L17R probably damaging Het
Zcchc14 T A 8: 122,330,675 (GRCm39) Q896L probably damaging Het
Zfp619 A G 7: 39,185,307 (GRCm39) K446E possibly damaging Het
Zpr1 T C 9: 46,187,490 (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
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
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'- GTGCACAACAGCGTTTAGG -3'
(R):5'- CATGCTATACCCTCAGCAGAG -3'

Sequencing Primer
(F):5'- TGCACAACAGCGTTTAGGATAAC -3'
(R):5'- GGGAAGGAAATAACTGTCTCTCG -3'
Posted On 2014-11-12