Incidental Mutation 'R1350:Ccn6'
ID 159538
Institutional Source Beutler Lab
Gene Symbol Ccn6
Ensembl Gene ENSMUSG00000062074
Gene Name cellular communication network factor 6
Synonyms LOC327743, CCN6, Wisp3
MMRRC Submission 039415-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1350 (G1)
Quality Score 178
Status Validated
Chromosome 10
Chromosomal Location 39026966-39039790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 39034302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 100 (C100Y)
Ref Sequence ENSEMBL: ENSMUSP00000076003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076713]
AlphaFold D3Z5L9
Predicted Effect probably damaging
Transcript: ENSMUST00000076713
AA Change: C100Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076003
Gene: ENSMUSG00000062074
AA Change: C100Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IB 46 116 1.01e-15 SMART
Blast:VWC 122 179 1e-27 BLAST
TSP1 211 253 6.58e-5 SMART
CT 273 342 1.23e-10 SMART
Meta Mutation Damage Score 0.9125 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.1%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with no obvious abnormalities in size, weight, skeletal development, ossification, or the occurrence of joint disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 A G 4: 126,400,925 (GRCm39) V640A probably benign Het
AI661453 C T 17: 47,778,853 (GRCm39) Q860* probably null Het
Atp10d A G 5: 72,418,469 (GRCm39) probably benign Het
Axdnd1 A G 1: 156,205,950 (GRCm39) probably null Het
Bivm T A 1: 44,165,863 (GRCm39) N104K possibly damaging Het
Capn15 A G 17: 26,183,666 (GRCm39) S338P probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Col13a1 G A 10: 61,729,848 (GRCm39) probably benign Het
Crb2 A G 2: 37,682,081 (GRCm39) N821D probably damaging Het
D5Ertd579e T A 5: 36,771,081 (GRCm39) I1105F probably damaging Het
Dnaja2 A T 8: 86,266,717 (GRCm39) F337I probably damaging Het
Dntt C T 19: 41,025,578 (GRCm39) probably benign Het
Dock3 C T 9: 106,791,831 (GRCm39) E1381K possibly damaging Het
Fibp T C 19: 5,511,419 (GRCm39) Y96H probably damaging Het
Garnl3 A G 2: 32,942,226 (GRCm39) V85A probably damaging Het
Gsdme A T 6: 50,223,108 (GRCm39) probably null Het
Gucy2c A T 6: 136,720,912 (GRCm39) probably null Het
Hectd1 A G 12: 51,809,217 (GRCm39) V1748A probably benign Het
Hepacam2 G A 6: 3,467,530 (GRCm39) Q384* probably null Het
Itga10 T A 3: 96,564,793 (GRCm39) M961K probably benign Het
Kcnk1 C T 8: 126,751,967 (GRCm39) T191I probably benign Het
Khdrbs1 G A 4: 129,614,545 (GRCm39) P336L probably benign Het
Klhdc2 T A 12: 69,352,484 (GRCm39) probably null Het
Lipc T C 9: 70,705,649 (GRCm39) H478R probably benign Het
Lrp12 A T 15: 39,741,646 (GRCm39) C356* probably null Het
Nf1 T A 11: 79,303,513 (GRCm39) C397S probably damaging Het
Nox3 A G 17: 3,700,396 (GRCm39) F439S probably damaging Het
Or12e9 T A 2: 87,202,701 (GRCm39) V275E probably benign Het
Or13a18 T C 7: 140,190,622 (GRCm39) V181A probably damaging Het
Or3a1b T C 11: 74,013,039 (GRCm39) L308P possibly damaging Het
Or4b12 A T 2: 90,096,690 (GRCm39) L28Q probably damaging Het
Or51b17 A G 7: 103,542,937 (GRCm39) W2R probably benign Het
Or7g29 T G 9: 19,286,710 (GRCm39) S156R possibly damaging Het
Or8b37 G A 9: 37,959,111 (GRCm39) V198I probably benign Het
Pcif1 T C 2: 164,728,687 (GRCm39) F288L probably damaging Het
Prxl2b C A 4: 154,982,585 (GRCm39) R107L probably damaging Het
Skint7 G T 4: 111,837,521 (GRCm39) A100S possibly damaging Het
Ssu2 A T 6: 112,351,807 (GRCm39) L306* probably null Het
Tasp1 T C 2: 139,899,341 (GRCm39) E4G probably damaging Het
Tfb1m A T 17: 3,595,955 (GRCm39) D99E probably benign Het
Ube3b A G 5: 114,544,198 (GRCm39) probably null Het
Uox A G 3: 146,330,330 (GRCm39) D162G probably damaging Het
Usp18 A G 6: 121,239,651 (GRCm39) T249A possibly damaging Het
Vmn1r202 T C 13: 22,685,886 (GRCm39) N177S probably benign Het
Vwa2 T A 19: 56,897,558 (GRCm39) M621K probably damaging Het
Wdfy3 C A 5: 102,046,418 (GRCm39) D1797Y probably damaging Het
Ylpm1 A T 12: 85,060,856 (GRCm39) probably benign Het
Zbtb9 G A 17: 27,193,380 (GRCm39) V262I probably benign Het
Other mutations in Ccn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Ccn6 APN 10 39,034,306 (GRCm39) missense probably damaging 1.00
IGL02429:Ccn6 APN 10 39,030,989 (GRCm39) missense probably benign 0.03
IGL02675:Ccn6 APN 10 39,027,236 (GRCm39) missense possibly damaging 0.77
IGL03160:Ccn6 APN 10 39,029,233 (GRCm39) missense probably damaging 1.00
IGL03214:Ccn6 APN 10 39,029,163 (GRCm39) missense probably benign 0.04
R0666:Ccn6 UTSW 10 39,027,285 (GRCm39) missense probably benign 0.45
R1478:Ccn6 UTSW 10 39,029,239 (GRCm39) missense probably damaging 1.00
R1479:Ccn6 UTSW 10 39,029,239 (GRCm39) missense probably damaging 1.00
R1624:Ccn6 UTSW 10 39,029,239 (GRCm39) missense probably damaging 1.00
R3833:Ccn6 UTSW 10 39,030,945 (GRCm39) missense probably benign 0.00
R3975:Ccn6 UTSW 10 39,031,094 (GRCm39) missense probably damaging 1.00
R5051:Ccn6 UTSW 10 39,031,152 (GRCm39) missense probably benign 0.00
R6000:Ccn6 UTSW 10 39,034,296 (GRCm39) missense probably damaging 1.00
R6492:Ccn6 UTSW 10 39,030,983 (GRCm39) missense probably benign 0.01
R6775:Ccn6 UTSW 10 39,027,351 (GRCm39) missense probably damaging 0.99
R7053:Ccn6 UTSW 10 39,034,297 (GRCm39) missense probably damaging 1.00
R7138:Ccn6 UTSW 10 39,034,473 (GRCm39) missense possibly damaging 0.80
R7253:Ccn6 UTSW 10 39,031,031 (GRCm39) missense probably benign 0.04
R7367:Ccn6 UTSW 10 39,034,261 (GRCm39) missense probably damaging 1.00
R7475:Ccn6 UTSW 10 39,034,296 (GRCm39) missense probably damaging 1.00
R8417:Ccn6 UTSW 10 39,027,207 (GRCm39) nonsense probably null
R8547:Ccn6 UTSW 10 39,027,194 (GRCm39) missense probably damaging 1.00
R9781:Ccn6 UTSW 10 39,027,167 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- AAAACTGAGCCATCCCACAGGTATG -3'
(R):5'- TCACCAAACGAAGCTCTGCTGC -3'

Sequencing Primer
(F):5'- ATCCCACAGGTATGCAAAATTG -3'
(R):5'- CAGCATTGGAGGTGTATCAGC -3'
Posted On 2014-03-14