Incidental Mutation 'IGL02994:Ccn2'
ID 407057
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02994
Quality Score
Status
Chromosome 10
Chromosomal Location 24471340-24474581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24472763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 224 (N224K)
Ref Sequence ENSEMBL: ENSMUSP00000135147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020171] [ENSMUST00000129142] [ENSMUST00000176228]
AlphaFold P29268
Predicted Effect probably damaging
Transcript: ENSMUST00000020171
AA Change: N224K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: N224K

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: N224K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: N224K

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
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,186,602 (GRCm39) probably benign Het
Ahnak2 A G 12: 112,749,827 (GRCm39) V137A probably damaging Het
Alk G T 17: 72,256,815 (GRCm39) F681L probably benign Het
Ankrd35 T C 3: 96,590,307 (GRCm39) probably benign Het
Aqp3 A T 4: 41,093,614 (GRCm39) C267S probably benign Het
Arl13b T A 16: 62,632,366 (GRCm39) I76F probably damaging Het
Cdc42bpa G T 1: 179,827,002 (GRCm39) R85L probably damaging Het
Dock4 T G 12: 40,829,159 (GRCm39) I1015R probably damaging Het
Dst A G 1: 34,268,333 (GRCm39) probably benign Het
Egfr T C 11: 16,861,811 (GRCm39) Y1197H probably damaging Het
Endod1 A G 9: 14,268,183 (GRCm39) V434A possibly damaging Het
Exosc9 A G 3: 36,607,287 (GRCm39) probably benign Het
Fgg G T 3: 82,915,781 (GRCm39) R74L probably benign Het
Fmo2 A T 1: 162,708,189 (GRCm39) D315E probably damaging Het
H2-M3 G A 17: 37,581,629 (GRCm39) S97N probably benign Het
Ighv14-2 T A 12: 113,958,211 (GRCm39) T77S probably benign Het
Klhl9 A T 4: 88,639,434 (GRCm39) L269* probably null Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Macroh2a1 T C 13: 56,252,112 (GRCm39) probably benign Het
Mkln1 T C 6: 31,467,378 (GRCm39) S31P probably damaging Het
Nacad A G 11: 6,549,528 (GRCm39) L1221P possibly damaging Het
Nbr1 A T 11: 101,447,053 (GRCm39) N13I probably damaging Het
Ndfip1 T C 18: 38,585,469 (GRCm39) I161T probably damaging Het
Nsg1 A G 5: 38,312,946 (GRCm39) probably benign Het
Rsbn1l G T 5: 21,113,232 (GRCm39) T430K probably damaging Het
Serpina6 A G 12: 103,620,210 (GRCm39) S180P probably benign Het
Slc4a5 T C 6: 83,249,106 (GRCm39) L570P probably damaging Het
Tank A G 2: 61,480,636 (GRCm39) probably benign Het
Tpd52 A G 3: 9,012,590 (GRCm39) F76L probably benign Het
Ubox5 A C 2: 130,442,237 (GRCm39) L150R probably benign Het
Zfp710 T C 7: 79,731,581 (GRCm39) S253P probably benign Het
Other mutations in Ccn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Ccn2 APN 10 24,472,307 (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
R2322:Ccn2 UTSW 10 24,472,732 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02