Incidental Mutation 'R7367:Ccn6'
ID 571883
Institutional Source Beutler Lab
Gene Symbol Ccn6
Ensembl Gene ENSMUSG00000062074
Gene Name cellular communication network factor 6
Synonyms LOC327743, CCN6, Wisp3
MMRRC Submission 045451-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7367 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 39026966-39039790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39034261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 114 (C114R)
Ref Sequence ENSEMBL: ENSMUSP00000076003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076713]
AlphaFold D3Z5L9
Predicted Effect probably damaging
Transcript: ENSMUST00000076713
AA Change: C114R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076003
Gene: ENSMUSG00000062074
AA Change: C114R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 137,996,312 (GRCm39) T374A probably benign Het
Agps T A 2: 75,698,657 (GRCm39) H348Q possibly damaging Het
Ankrd34b C A 13: 92,574,795 (GRCm39) T9K probably benign Het
Atp10b A G 11: 43,138,328 (GRCm39) Q1203R probably damaging Het
B4galnt4 A G 7: 140,644,388 (GRCm39) N123D probably damaging Het
Cep250 A G 2: 155,811,227 (GRCm39) T358A probably benign Het
Cfh A T 1: 140,014,259 (GRCm39) H1188Q probably damaging Het
Cisd1 A G 10: 71,172,190 (GRCm39) Y31H probably damaging Het
Cnga1 G A 5: 72,762,701 (GRCm39) S271F possibly damaging Het
Cntnap5a A G 1: 116,370,025 (GRCm39) T881A probably benign Het
Cracd T A 5: 77,004,449 (GRCm39) L270Q unknown Het
Cyp2s1 A T 7: 25,505,398 (GRCm39) D355E possibly damaging Het
Dnaaf10 A G 11: 17,182,712 (GRCm39) Y291C probably damaging Het
Dnah11 T A 12: 117,951,177 (GRCm39) R3044W possibly damaging Het
Dnah17 T C 11: 118,006,022 (GRCm39) D730G probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Flacc1 A T 1: 58,706,023 (GRCm39) I282N probably benign Het
Fsd2 A G 7: 81,184,928 (GRCm39) I656T probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm45871 A T 18: 90,609,224 (GRCm39) H154L probably benign Het
Golgb1 T A 16: 36,718,908 (GRCm39) N312K probably benign Het
H2ac4 A G 13: 23,935,333 (GRCm39) D73G possibly damaging Het
Hsd17b4 T A 18: 50,288,252 (GRCm39) H227Q probably damaging Het
Hsd17b6 A T 10: 127,829,492 (GRCm39) S237T probably benign Het
Htra4 A T 8: 25,523,713 (GRCm39) V284E probably damaging Het
Kcnv1 C T 15: 44,972,638 (GRCm39) C415Y probably damaging Het
Kif11 T A 19: 37,408,789 (GRCm39) L1037H probably benign Het
Lama5 T C 2: 179,834,751 (GRCm39) T1347A probably benign Het
Lrrc32 G T 7: 98,148,086 (GRCm39) E289* probably null Het
Lrrc66 T C 5: 73,765,724 (GRCm39) T440A probably benign Het
Neurl4 T C 11: 69,799,408 (GRCm39) L928P probably damaging Het
Nos2 G A 11: 78,840,916 (GRCm39) C788Y possibly damaging Het
Or2c1 A G 16: 3,657,166 (GRCm39) T110A probably damaging Het
Or4x11 A G 2: 89,868,156 (GRCm39) S298G probably benign Het
Or5m5 T C 2: 85,814,687 (GRCm39) W168R possibly damaging Het
Pafah1b3 A G 7: 24,995,491 (GRCm39) C156R probably benign Het
Pak1ip1 T G 13: 41,162,371 (GRCm39) N151K probably damaging Het
Pax7 G A 4: 139,507,060 (GRCm39) P326S probably benign Het
Pex11b G A 3: 96,543,994 (GRCm39) A21T probably damaging Het
Pkn2 A G 3: 142,516,488 (GRCm39) V546A probably benign Het
Ppat T A 5: 77,067,711 (GRCm39) R260* probably null Het
Ppp1r13l C G 7: 19,104,081 (GRCm39) S187R probably benign Het
Pwp2 C T 10: 78,018,314 (GRCm39) G126R probably damaging Het
R3hdm1 A G 1: 128,081,129 (GRCm39) D55G possibly damaging Het
Rev1 A T 1: 38,113,488 (GRCm39) Y526* probably null Het
Rp1 A G 1: 4,418,221 (GRCm39) W964R probably benign Het
Sarnp A G 10: 128,669,247 (GRCm39) I35V probably damaging Het
Sec23a T C 12: 59,013,785 (GRCm39) N730S probably benign Het
Sh3d19 A G 3: 86,011,535 (GRCm39) K374E probably benign Het
Sh3tc2 A G 18: 62,122,577 (GRCm39) D446G probably benign Het
Sugct T A 13: 17,819,399 (GRCm39) I149F probably damaging Het
Tle2 A G 10: 81,416,152 (GRCm39) N142S probably damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trpm1 T A 7: 63,918,549 (GRCm39) Y1514N probably benign Het
Ubr4 C T 4: 139,180,002 (GRCm39) S259L unknown Het
Utp20 A T 10: 88,631,305 (GRCm39) L892Q probably benign Het
Zfp956 C T 6: 47,940,853 (GRCm39) T404M probably damaging 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
R1350:Ccn6 UTSW 10 39,034,302 (GRCm39) missense probably damaging 1.00
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
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'- TCTATGGACTTCATATGTCATCCAG -3'
(R):5'- ATTGGAGGTGTATCAGCGTAC -3'

Sequencing Primer
(F):5'- GGACTTCATATGTCATCCAGTAAAAC -3'
(R):5'- GTGTATCAGCGTACAGAGGTC -3'
Posted On 2019-09-13