Incidental Mutation 'R2322:Ccn2'
ID 244782
Institutional Source Beutler Lab
Gene Symbol Ccn2
Ensembl Gene ENSMUSG00000019997
Gene Name cellular communication network factor 2
Synonyms Ccn2, Fisp12, hypertrophic chondrocyte-specific gene product 24, Ctgf, Hcs24
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2322 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 24471340-24474581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24472732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 214 (M214T)
Ref Sequence ENSEMBL: ENSMUSP00000135147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020171] [ENSMUST00000129142] [ENSMUST00000176228]
AlphaFold P29268
Predicted Effect possibly damaging
Transcript: ENSMUST00000020171
AA Change: M214T

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: M214T

DomainStartEndE-ValueType
IB 26 96 1.45e-25 SMART
VWC 102 165 8.52e-22 SMART
TSP1 199 242 7.27e-7 SMART
CT 260 329 1.17e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125158
Predicted Effect probably benign
Transcript: ENSMUST00000129142
SMART Domains Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997

DomainStartEndE-ValueType
IB 3 73 1.45e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141076
Predicted Effect probably damaging
Transcript: ENSMUST00000176228
AA Change: M214T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: M214T

DomainStartEndE-ValueType
IB 26 96 1.45e-25 SMART
VWC 102 165 8.52e-22 SMART
TSP1 199 242 7.27e-7 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice die at birth from respiratory failure due to axial skeletal defects and pulmonary hypoplasia associated with reduced cell proliferation, enhanced apoptosis and altered pneumocyte maturation. Osteogenesis is impaired due to impaired chondrogenesis and growth plate angiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
AY358078 A G 14: 52,042,147 (GRCm39) Y174C unknown Het
Bod1l A T 5: 41,984,463 (GRCm39) V529E probably benign Het
Brinp3 A G 1: 146,577,492 (GRCm39) T176A probably benign Het
Cfap57 T A 4: 118,467,922 (GRCm39) I272L probably benign Het
Cnr1 A G 4: 33,944,514 (GRCm39) K301E probably damaging Het
Elavl1 A T 8: 4,339,802 (GRCm39) L260H probably damaging Het
Ercc6 A G 14: 32,248,274 (GRCm39) Y275C probably damaging Het
Fndc1 A G 17: 8,007,847 (GRCm39) S96P probably damaging Het
Hykk G A 9: 54,853,418 (GRCm39) G247S probably benign Het
Ky T C 9: 102,414,990 (GRCm39) probably null Het
Mcu A C 10: 59,290,766 (GRCm39) probably null Het
Or2y17 T G 11: 49,231,476 (GRCm39) L39R probably damaging Het
Or5w11 T C 2: 87,459,118 (GRCm39) C104R possibly damaging Het
Ppp4r3a C T 12: 101,008,878 (GRCm39) R667Q probably damaging Het
Ptprj T C 2: 90,301,473 (GRCm39) T220A probably benign Het
St18 T A 1: 6,914,348 (GRCm39) C766* probably null Het
St8sia4 C T 1: 95,581,463 (GRCm39) R93H probably damaging Het
Tcim G C 8: 24,928,726 (GRCm39) R63G probably damaging Het
Xylb T C 9: 119,217,813 (GRCm39) S488P possibly damaging Het
Zhx3 T C 2: 160,623,948 (GRCm39) D73G probably damaging Het
Other mutations in Ccn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Ccn2 APN 10 24,472,307 (GRCm39) missense probably damaging 1.00
IGL02994:Ccn2 APN 10 24,472,763 (GRCm39) missense probably damaging 1.00
PIT4131001:Ccn2 UTSW 10 24,471,988 (GRCm39) missense probably damaging 0.97
R0443:Ccn2 UTSW 10 24,471,701 (GRCm39) splice site probably benign
R0496:Ccn2 UTSW 10 24,473,413 (GRCm39) missense possibly damaging 0.51
R0538:Ccn2 UTSW 10 24,472,364 (GRCm39) missense probably damaging 1.00
R1599:Ccn2 UTSW 10 24,473,297 (GRCm39) missense probably benign 0.08
R1721:Ccn2 UTSW 10 24,472,695 (GRCm39) missense probably damaging 1.00
R2095:Ccn2 UTSW 10 24,472,377 (GRCm39) missense probably benign 0.41
R2230:Ccn2 UTSW 10 24,472,371 (GRCm39) missense possibly damaging 0.61
R4913:Ccn2 UTSW 10 24,473,225 (GRCm39) missense probably damaging 1.00
R5697:Ccn2 UTSW 10 24,473,354 (GRCm39) missense probably benign
R6705:Ccn2 UTSW 10 24,471,853 (GRCm39) missense probably damaging 0.99
R7067:Ccn2 UTSW 10 24,472,873 (GRCm39) missense probably benign 0.14
R7427:Ccn2 UTSW 10 24,473,397 (GRCm39) missense probably damaging 0.99
R8559:Ccn2 UTSW 10 24,471,966 (GRCm39) frame shift probably null
R9036:Ccn2 UTSW 10 24,472,647 (GRCm39) missense probably benign 0.01
R9223:Ccn2 UTSW 10 24,471,856 (GRCm39) missense probably benign 0.37
R9375:Ccn2 UTSW 10 24,473,501 (GRCm39) missense possibly damaging 0.88
R9383:Ccn2 UTSW 10 24,471,883 (GRCm39) missense possibly damaging 0.94
R9727:Ccn2 UTSW 10 24,471,820 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATTCTCCCCAACTTCAGGGC -3'
(R):5'- CCTCTAATAACATGGGAGGTGAGAC -3'

Sequencing Primer
(F):5'- TCCCCAACTTCAGGGCCAATG -3'
(R):5'- AGACAGCCAGCTCGGTTCTC -3'
Posted On 2014-10-30