Incidental Mutation 'R6960:Ccn4'
ID 541726
Institutional Source Beutler Lab
Gene Symbol Ccn4
Ensembl Gene ENSMUSG00000005124
Gene Name cellular communication network factor 4
Synonyms Wisp1, Elm1, CCN4
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 66763337-66795050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66791047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 283 (T283M)
Ref Sequence ENSEMBL: ENSMUSP00000005255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005255] [ENSMUST00000118823] [ENSMUST00000147079]
AlphaFold O54775
Predicted Effect probably benign
Transcript: ENSMUST00000005255
AA Change: T283M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000005255
Gene: ENSMUSG00000005124
AA Change: T283M

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IB 49 117 6.39e-13 SMART
VWC 123 185 5.63e-13 SMART
TSP1 217 260 4.34e-5 SMART
CT 278 347 1.42e-6 SMART
Predicted Effect silent
Transcript: ENSMUST00000118823
SMART Domains Protein: ENSMUSP00000113144
Gene: ENSMUSG00000005124

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IB 49 117 3.19e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147079
SMART Domains Protein: ENSMUSP00000117402
Gene: ENSMUSG00000005124

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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 may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging Het
Other mutations in Ccn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03051:Ccn4 APN 15 66,778,399 (GRCm39) nonsense probably null
IGL03057:Ccn4 APN 15 66,763,489 (GRCm39) splice site probably benign
R0029:Ccn4 UTSW 15 66,784,713 (GRCm39) missense probably damaging 1.00
R0125:Ccn4 UTSW 15 66,789,194 (GRCm39) missense possibly damaging 0.82
R0164:Ccn4 UTSW 15 66,791,059 (GRCm39) missense probably damaging 1.00
R0164:Ccn4 UTSW 15 66,791,059 (GRCm39) missense probably damaging 1.00
R0470:Ccn4 UTSW 15 66,789,227 (GRCm39) missense probably benign 0.13
R0847:Ccn4 UTSW 15 66,791,124 (GRCm39) missense probably damaging 1.00
R1463:Ccn4 UTSW 15 66,791,120 (GRCm39) missense possibly damaging 0.52
R1623:Ccn4 UTSW 15 66,763,448 (GRCm39) missense possibly damaging 0.46
R1785:Ccn4 UTSW 15 66,778,338 (GRCm39) missense probably damaging 1.00
R1786:Ccn4 UTSW 15 66,778,338 (GRCm39) missense probably damaging 1.00
R2027:Ccn4 UTSW 15 66,789,258 (GRCm39) missense possibly damaging 0.50
R2104:Ccn4 UTSW 15 66,791,176 (GRCm39) missense probably benign 0.11
R2440:Ccn4 UTSW 15 66,784,706 (GRCm39) missense possibly damaging 0.71
R3791:Ccn4 UTSW 15 66,791,137 (GRCm39) missense probably damaging 1.00
R4748:Ccn4 UTSW 15 66,778,489 (GRCm39) nonsense probably null
R5317:Ccn4 UTSW 15 66,789,131 (GRCm39) missense probably benign
R7144:Ccn4 UTSW 15 66,784,879 (GRCm39) missense probably damaging 0.99
R8237:Ccn4 UTSW 15 66,791,083 (GRCm39) missense probably benign 0.23
R9140:Ccn4 UTSW 15 66,791,157 (GRCm39) missense probably damaging 0.96
R9364:Ccn4 UTSW 15 66,784,900 (GRCm39) missense probably benign 0.01
R9554:Ccn4 UTSW 15 66,784,900 (GRCm39) missense probably benign 0.01
R9598:Ccn4 UTSW 15 66,784,764 (GRCm39) missense possibly damaging 0.55
R9644:Ccn4 UTSW 15 66,784,785 (GRCm39) missense
Predicted Primers
Posted On 2018-11-28