Incidental Mutation 'IGL03089:Ccn3'
ID 418296
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 # IGL03089
Quality Score
Status
Chromosome 15
Chromosomal Location 54609306-54617158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54612680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 230 (R230C)
Ref Sequence ENSEMBL: ENSMUSP00000054389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050027]
AlphaFold Q64299
Predicted Effect possibly damaging
Transcript: ENSMUST00000050027
AA Change: R230C

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: R230C

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,584,556 (GRCm39) S947P probably damaging Het
Agl T A 3: 116,574,672 (GRCm39) H709L probably damaging Het
Alpi T A 1: 87,027,830 (GRCm39) D250V probably benign Het
Anapc4 A G 5: 53,023,740 (GRCm39) S735G probably benign Het
Ank1 A T 8: 23,594,848 (GRCm39) I611L probably benign Het
Canx A G 11: 50,195,309 (GRCm39) V253A possibly damaging Het
Cbfa2t3 A T 8: 123,361,873 (GRCm39) I383N probably damaging Het
Cdc23 T C 18: 34,767,513 (GRCm39) Y519C probably damaging Het
Celsr3 T A 9: 108,703,806 (GRCm39) N96K probably benign Het
Clptm1 A G 7: 19,371,072 (GRCm39) Y355H probably damaging Het
Col6a5 C T 9: 105,811,038 (GRCm39) S827N unknown Het
Cyp21a1 G T 17: 35,022,420 (GRCm39) probably null Het
Cyp24a1 T G 2: 170,327,886 (GRCm39) H452P probably damaging Het
Cyp2c39 T A 19: 39,552,295 (GRCm39) H329Q probably benign Het
D630003M21Rik C T 2: 158,058,664 (GRCm39) R412Q probably benign Het
Dennd1b G A 1: 139,029,767 (GRCm39) R308Q possibly damaging Het
Deup1 T C 9: 15,519,096 (GRCm39) S137G possibly damaging Het
Dmbt1 T A 7: 130,712,778 (GRCm39) I1583N probably damaging Het
Dvl1 G A 4: 155,939,609 (GRCm39) V320M probably damaging Het
Elmod3 A G 6: 72,546,299 (GRCm39) S254P probably damaging Het
Emsy G A 7: 98,286,473 (GRCm39) Q226* probably null Het
Ephb6 C A 6: 41,591,108 (GRCm39) D88E probably damaging Het
Exoc1 A G 5: 76,690,005 (GRCm39) M182V possibly damaging Het
Fbxw4 T G 19: 45,580,160 (GRCm39) probably benign Het
Fgr A G 4: 132,713,577 (GRCm39) D35G probably damaging Het
Gm20547 A T 17: 35,080,008 (GRCm39) D366E probably damaging Het
Gucy1a1 T C 3: 82,004,988 (GRCm39) N599S probably damaging Het
Ighg2b G A 12: 113,270,298 (GRCm39) P240L probably damaging Het
Jak3 A G 8: 72,138,727 (GRCm39) D975G probably benign Het
Klhl26 A T 8: 70,908,283 (GRCm39) N24K probably benign Het
Letm1 T A 5: 33,918,202 (GRCm39) E314D probably damaging Het
Lin54 A T 5: 100,598,852 (GRCm39) F319L probably damaging Het
Lrp5 A T 19: 3,670,314 (GRCm39) probably null Het
Lvrn T C 18: 47,013,776 (GRCm39) F486S probably damaging Het
Or1e19 T C 11: 73,316,009 (GRCm39) T267A probably benign Het
Or2h1b A G 17: 37,462,534 (GRCm39) C110R probably damaging Het
Or4c113 T C 2: 88,885,357 (GRCm39) R138G probably benign Het
Or51m1 A C 7: 103,578,329 (GRCm39) I100L probably benign Het
Or8g54 A T 9: 39,706,977 (GRCm39) Y102F probably benign Het
Pramel24 A G 4: 143,452,703 (GRCm39) T45A probably benign Het
Sap30bp T A 11: 115,848,214 (GRCm39) M112K possibly damaging Het
Sbno1 A G 5: 124,525,374 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,950,338 (GRCm39) I307V probably benign Het
Trim37 T A 11: 87,080,963 (GRCm39) D21E probably damaging Het
Usp34 T C 11: 23,396,958 (GRCm39) F614S possibly damaging Het
Usp39 A C 6: 72,305,622 (GRCm39) F387C probably damaging Het
Vipas39 C T 12: 87,300,028 (GRCm39) C149Y probably damaging Het
Vmn2r107 C A 17: 20,595,974 (GRCm39) H842Q probably benign Het
Vps18 T A 2: 119,123,658 (GRCm39) V195E probably benign Het
Vsx1 A G 2: 150,527,510 (GRCm39) probably benign Het
Other mutations in Ccn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Ccn3 APN 15 54,612,656 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02