Incidental Mutation 'IGL01315:Ccn3'
ID 73817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccn3
Ensembl Gene ENSMUSG00000037362
Gene Name cellular communication network factor 3
Synonyms C130088N23Rik, CCN3, Nov
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL01315
Quality Score
Status
Chromosome 15
Chromosomal Location 54609306-54617158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54612656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 222 (S222P)
Ref Sequence ENSEMBL: ENSMUSP00000054389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050027]
AlphaFold Q64299
Predicted Effect probably damaging
Transcript: ENSMUST00000050027
AA Change: S222P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: S222P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IB 27 98 8.2e-34 SMART
VWC 104 167 6.08e-18 SMART
low complexity region 172 181 N/A INTRINSIC
TSP1 204 247 5.51e-7 SMART
CT 266 335 1.18e-21 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 small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 T C 5: 31,050,578 (GRCm39) S409P probably benign Het
Ankdd1a T A 9: 65,415,984 (GRCm39) H187L probably damaging Het
Ap2a1 A T 7: 44,565,713 (GRCm39) D51E possibly damaging Het
Cog5 T A 12: 31,810,985 (GRCm39) probably benign Het
Eif3h T C 15: 51,705,881 (GRCm39) D91G probably damaging Het
Ell2 A G 13: 75,910,351 (GRCm39) probably benign Het
Epha4 A G 1: 77,375,194 (GRCm39) V551A probably benign Het
Gpc2 A G 5: 138,274,301 (GRCm39) S354P probably benign Het
Gramd1a A G 7: 30,841,993 (GRCm39) F140L probably damaging Het
Hnmt A G 2: 23,909,180 (GRCm39) Y78H probably benign Het
Ighe T A 12: 113,234,972 (GRCm39) H396L unknown Het
Krt87 A G 15: 101,384,848 (GRCm39) probably benign Het
Mgat5b T C 11: 116,814,215 (GRCm39) S40P probably damaging Het
Mov10 A G 3: 104,703,261 (GRCm39) V876A probably damaging Het
Nbeal1 T C 1: 60,320,500 (GRCm39) V2031A probably damaging Het
Ntm T A 9: 28,925,480 (GRCm39) S26C probably damaging Het
Pcsk5 G A 19: 17,429,322 (GRCm39) T1552I probably damaging Het
Pex1 A T 5: 3,659,975 (GRCm39) D453V probably damaging Het
Pkd2l1 C T 19: 44,180,635 (GRCm39) D27N probably benign Het
Plppr5 G T 3: 117,456,175 (GRCm39) C232F probably damaging Het
Slc39a2 G T 14: 52,132,593 (GRCm39) E179* probably null Het
Slc8a3 A G 12: 81,361,169 (GRCm39) V550A probably damaging Het
Smc5 T A 19: 23,208,968 (GRCm39) T626S probably benign Het
Tars1 A C 15: 11,389,820 (GRCm39) Y363* probably null Het
Unc79 T C 12: 103,054,780 (GRCm39) I906T possibly damaging Het
Ush2a C T 1: 188,365,811 (GRCm39) P2222S possibly damaging Het
Wdr31 A C 4: 62,374,074 (GRCm39) V306G probably damaging Het
Zdhhc1 C A 8: 106,199,630 (GRCm39) R389S probably benign Het
Other mutations in Ccn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Ccn3 APN 15 54,615,687 (GRCm39) missense probably damaging 1.00
IGL01727:Ccn3 APN 15 54,609,634 (GRCm39) missense probably benign 0.17
IGL02027:Ccn3 APN 15 54,611,330 (GRCm39) missense probably damaging 0.98
IGL02690:Ccn3 APN 15 54,611,198 (GRCm39) missense probably damaging 1.00
IGL03089:Ccn3 APN 15 54,612,680 (GRCm39) missense possibly damaging 0.72
IGL03229:Ccn3 APN 15 54,612,704 (GRCm39) missense probably benign 0.19
R0556:Ccn3 UTSW 15 54,612,563 (GRCm39) missense probably damaging 1.00
R1162:Ccn3 UTSW 15 54,611,178 (GRCm39) nonsense probably null
R1321:Ccn3 UTSW 15 54,612,642 (GRCm39) missense probably damaging 1.00
R1572:Ccn3 UTSW 15 54,612,648 (GRCm39) missense possibly damaging 0.89
R1994:Ccn3 UTSW 15 54,612,750 (GRCm39) missense probably benign
R2151:Ccn3 UTSW 15 54,615,854 (GRCm39) missense probably benign 0.10
R4785:Ccn3 UTSW 15 54,615,603 (GRCm39) critical splice acceptor site probably null
R5165:Ccn3 UTSW 15 54,612,585 (GRCm39) missense probably damaging 1.00
R5577:Ccn3 UTSW 15 54,615,897 (GRCm39) missense possibly damaging 0.54
R6131:Ccn3 UTSW 15 54,612,756 (GRCm39) missense probably benign 0.28
R6307:Ccn3 UTSW 15 54,611,421 (GRCm39) critical splice donor site probably null
R6472:Ccn3 UTSW 15 54,612,668 (GRCm39) missense possibly damaging 0.95
R6557:Ccn3 UTSW 15 54,611,323 (GRCm39) nonsense probably null
R7000:Ccn3 UTSW 15 54,615,743 (GRCm39) missense probably damaging 1.00
R7029:Ccn3 UTSW 15 54,611,171 (GRCm39) missense possibly damaging 0.89
R7957:Ccn3 UTSW 15 54,609,734 (GRCm39) missense possibly damaging 0.93
R9030:Ccn3 UTSW 15 54,615,687 (GRCm39) missense probably damaging 1.00
X0063:Ccn3 UTSW 15 54,609,717 (GRCm39) missense probably benign 0.06
Posted On 2013-10-07