Incidental Mutation 'R5959:Cnmd'
ID 471375
Institutional Source Beutler Lab
Gene Symbol Cnmd
Ensembl Gene ENSMUSG00000022025
Gene Name chondromodulin
Synonyms Bricd3, Chondromodulin 1, Chmd, ChM-I, Lect1
MMRRC Submission 044146-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5959 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 79875130-79899610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79894109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 93 (I93V)
Ref Sequence ENSEMBL: ENSMUSP00000126958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022603] [ENSMUST00000165835]
AlphaFold Q9Z1F6
Predicted Effect probably damaging
Transcript: ENSMUST00000022603
AA Change: I93V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022603
Gene: ENSMUSG00000022025
AA Change: I93V

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
BRICHOS 105 201 1.24e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165835
AA Change: I93V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126958
Gene: ENSMUSG00000022025
AA Change: I93V

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
BRICHOS 105 201 1.24e-33 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.6%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,106,792 (GRCm39) N164Y probably damaging Het
Acp6 A G 3: 97,073,888 (GRCm39) E164G probably damaging Het
Adcy5 A T 16: 35,118,780 (GRCm39) I1044F probably damaging Het
Ahcyl2 A G 6: 29,886,173 (GRCm39) D363G probably damaging Het
Ankrd28 T C 14: 31,451,879 (GRCm39) T273A probably benign Het
Cc2d1a A T 8: 84,860,132 (GRCm39) Y862* probably null Het
Cfap221 T A 1: 119,860,511 (GRCm39) H705L probably damaging Het
Cfap61 C T 2: 145,789,053 (GRCm39) T19M probably benign Het
Chga T C 12: 102,528,114 (GRCm39) S202P probably benign Het
Cpne1 G A 2: 155,920,143 (GRCm39) S188L probably benign Het
Dchs2 G A 3: 83,232,725 (GRCm39) V2237I probably benign Het
Dguok C T 6: 83,467,574 (GRCm39) R91H probably benign Het
Eed A G 7: 89,618,835 (GRCm39) I193T probably damaging Het
Fasn C T 11: 120,699,390 (GRCm39) E2353K probably damaging Het
Fpr-rs7 G A 17: 20,334,011 (GRCm39) H160Y probably benign Het
Gramd4 T A 15: 86,011,758 (GRCm39) M272K probably damaging Het
Hfm1 A G 5: 107,022,783 (GRCm39) S940P probably damaging Het
Ifnlr1 T A 4: 135,432,652 (GRCm39) S363T possibly damaging Het
Jak3 A G 8: 72,134,715 (GRCm39) N481D probably damaging Het
Kcnj3 A G 2: 55,327,330 (GRCm39) K40E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Lpcat4 T A 2: 112,070,380 (GRCm39) L31H possibly damaging Het
Myo1c A G 11: 75,548,345 (GRCm39) T38A probably benign Het
Myt1l T C 12: 29,970,039 (GRCm39) probably null Het
Nbas T C 12: 13,338,802 (GRCm39) V214A probably damaging Het
Neb C A 2: 52,046,389 (GRCm39) R6537L probably benign Het
Nwd2 T A 5: 63,965,413 (GRCm39) F1666I probably benign Het
Or52z1 T A 7: 103,436,723 (GRCm39) I254F probably damaging Het
Or8b1 A G 9: 38,400,207 (GRCm39) N294S probably damaging Het
Prmt8 C A 6: 127,706,381 (GRCm39) V137L probably damaging Het
Ptpn21 A T 12: 98,675,148 (GRCm39) probably null Het
Rab15 A G 12: 76,869,043 (GRCm39) S17P probably damaging Het
Rbm5 T G 9: 107,629,339 (GRCm39) I338L probably benign Het
Rragc G A 4: 123,817,767 (GRCm39) S218N probably damaging Het
Sacs T C 14: 61,449,849 (GRCm39) M3965T probably damaging Het
Sgo2b T A 8: 64,380,322 (GRCm39) I837F probably benign Het
Sorcs3 T G 19: 48,737,835 (GRCm39) C751G probably damaging Het
Sowahc A G 10: 59,058,920 (GRCm39) D352G probably benign Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Spata31f1e T A 4: 42,793,492 (GRCm39) K213N probably damaging Het
Srr A G 11: 74,801,891 (GRCm39) V126A possibly damaging Het
Tenm3 T A 8: 49,099,482 (GRCm39) R108* probably null Het
Traf3ip2 A T 10: 39,517,337 (GRCm39) M403L probably benign Het
Trappc11 T C 8: 47,954,593 (GRCm39) D949G probably damaging Het
Ttn A G 2: 76,544,960 (GRCm39) I32714T probably damaging Het
Ttn T A 2: 76,693,849 (GRCm39) T218S possibly damaging Het
Uaca A T 9: 60,778,052 (GRCm39) H811L probably damaging Het
Ugt2b1 T C 5: 87,073,813 (GRCm39) E182G probably benign Het
Vmn1r49 T C 6: 90,049,786 (GRCm39) D72G probably damaging Het
Vmn2r80 A T 10: 79,005,313 (GRCm39) M317L probably benign Het
Vwa2 T C 19: 56,869,604 (GRCm39) L13P possibly damaging Het
Zc3hav1 G A 6: 38,284,379 (GRCm39) T912I probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp948 A G 17: 21,807,776 (GRCm39) K323E probably benign Het
Zfyve27 T G 19: 42,167,887 (GRCm39) V143G unknown 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
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'- CGAGAAGCTGCTGTTGAGAAC -3'
(R):5'- TAGCTGACTGGTATATGGATAGATTCC -3'

Sequencing Primer
(F):5'- AGTAACCACTGCGTGCGTG -3'
(R):5'- TCCTCACATATTGTGGACC -3'
Posted On 2017-03-31