Incidental Mutation 'R8066:Ccn5'
ID 619978
Institutional Source Beutler Lab
Gene Symbol Ccn5
Ensembl Gene ENSMUSG00000027656
Gene Name cellular communication network factor 5
Synonyms CCN5, Wisp2, Crgr4, rCop1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8066 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 163662781-163675066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 163670862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 123 (C123F)
Ref Sequence ENSEMBL: ENSMUSP00000029188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029188]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029188
AA Change: C123F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029188
Gene: ENSMUSG00000027656
AA Change: C123F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IB 24 93 1.67e-16 SMART
VWC 100 163 5.9e-16 SMART
TSP1 195 239 9.68e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viabe and overtly normal with no adult bone phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,780,689 (GRCm39) V177A probably benign Het
Acsm2 C A 7: 119,190,548 (GRCm39) T517K probably damaging Het
Adam29 T G 8: 56,325,703 (GRCm39) L250F probably benign Het
Ankrd37 T C 8: 46,450,726 (GRCm39) D135G probably benign Het
Armh4 T C 14: 50,005,980 (GRCm39) T572A possibly damaging Het
Aspa T C 11: 73,204,372 (GRCm39) K199E possibly damaging Het
Aurka A T 2: 172,212,338 (GRCm39) I13K probably benign Het
Bag6 A G 17: 35,361,283 (GRCm39) D446G unknown Het
Bcar3 A T 3: 122,318,573 (GRCm39) I654F probably damaging Het
Ccdc188 A T 16: 18,037,058 (GRCm39) N210Y probably damaging Het
Ccdc25 A T 14: 66,083,751 (GRCm39) D28V possibly damaging Het
Cdc37 C T 9: 21,054,437 (GRCm39) E63K probably benign Het
Chrm4 T A 2: 91,758,042 (GRCm39) L150H probably damaging Het
Col5a2 A T 1: 45,452,628 (GRCm39) probably null Het
Ctr9 T A 7: 110,633,104 (GRCm39) Y117* probably null Het
Cyp4f37 C A 17: 32,854,047 (GRCm39) R499S probably benign Het
Egr4 T C 6: 85,489,277 (GRCm39) Y261C probably damaging Het
Fanca A T 8: 124,030,679 (GRCm39) C468S unknown Het
Gart T C 16: 91,436,335 (GRCm39) N141D probably benign Het
Get4 G A 5: 139,249,293 (GRCm39) V126M probably damaging Het
Gja3 T C 14: 57,273,263 (GRCm39) S370G probably benign Het
Gopc T C 10: 52,230,812 (GRCm39) K162R probably benign Het
Grpel1 A G 5: 36,626,889 (GRCm39) D57G probably benign Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Kcnma1 A G 14: 23,361,744 (GRCm39) L1149P probably benign Het
Lmbrd2 G A 15: 9,172,172 (GRCm39) R322Q probably benign Het
Lrrc59 T C 11: 94,525,426 (GRCm39) L74P possibly damaging Het
Mcam G T 9: 44,052,257 (GRCm39) K589N probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nrap A T 19: 56,342,562 (GRCm39) L813Q possibly damaging Het
Oga T C 19: 45,760,291 (GRCm39) K289R probably damaging Het
Or10h1 T C 17: 33,418,126 (GRCm39) F35L probably benign Het
Or14a260 A T 7: 85,985,014 (GRCm39) C197S probably benign Het
Or52b1 C T 7: 104,978,761 (GRCm39) V213I possibly damaging Het
Pcdhga8 A T 18: 37,859,435 (GRCm39) I164L probably benign Het
Pck2 C A 14: 55,781,858 (GRCm39) P251H probably benign Het
Phip A T 9: 82,757,351 (GRCm39) I1607K probably benign Het
Piwil2 T C 14: 70,658,168 (GRCm39) T220A probably benign Het
Plch1 G A 3: 63,618,478 (GRCm39) Q686* probably null Het
Pnpla2 A G 7: 141,039,581 (GRCm39) *487W probably null Het
Prdm14 C A 1: 13,184,540 (GRCm39) G544C probably benign Het
Psg22 A G 7: 18,452,218 (GRCm39) E45G possibly damaging Het
Psmb5 T C 14: 54,851,698 (GRCm39) D249G probably benign Het
Pstpip1 A G 9: 56,033,913 (GRCm39) I296V probably benign Het
S1pr3 T A 13: 51,573,955 (GRCm39) *379R probably null Het
Smc3 G A 19: 53,603,576 (GRCm39) R57H probably damaging Het
Spata31g1 C A 4: 42,971,929 (GRCm39) Q421K possibly damaging Het
Srcap T A 7: 127,139,484 (GRCm39) H1268Q possibly damaging Het
Srcap C T 7: 127,120,804 (GRCm39) R155C probably damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Svep1 A G 4: 58,113,650 (GRCm39) V999A probably benign Het
Tchp T A 5: 114,847,472 (GRCm39) L97Q probably benign Het
Tex46 G A 4: 136,340,265 (GRCm39) V117M probably benign Het
Tnnc2 T A 2: 164,619,661 (GRCm39) I102F possibly damaging Het
Trbv5 T A 6: 41,039,326 (GRCm39) C12S probably damaging Het
Trub2 T A 2: 29,667,867 (GRCm39) T258S possibly damaging Het
Uba3 T A 6: 97,178,882 (GRCm39) N87I probably damaging Het
Vmn1r160 A T 7: 22,571,315 (GRCm39) I223F probably damaging Het
Vmn1r192 G T 13: 22,371,565 (GRCm39) Y218* probably null Het
Vmn1r8 A G 6: 57,013,419 (GRCm39) M157V probably benign Het
Vps53 T C 11: 76,027,133 (GRCm39) E127G probably damaging Het
Vsig10 G T 5: 117,489,849 (GRCm39) E538D probably benign Het
Zfp647 A T 15: 76,796,095 (GRCm39) H188Q probably damaging Het
Other mutations in Ccn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Ccn5 APN 2 163,670,942 (GRCm39) missense probably damaging 1.00
BB002:Ccn5 UTSW 2 163,670,961 (GRCm39) missense possibly damaging 0.82
BB012:Ccn5 UTSW 2 163,670,961 (GRCm39) missense possibly damaging 0.82
R0336:Ccn5 UTSW 2 163,674,242 (GRCm39) missense probably damaging 0.98
R0600:Ccn5 UTSW 2 163,667,233 (GRCm39) missense probably damaging 1.00
R1241:Ccn5 UTSW 2 163,670,997 (GRCm39) missense unknown
R1779:Ccn5 UTSW 2 163,670,906 (GRCm39) missense probably damaging 1.00
R2921:Ccn5 UTSW 2 163,674,266 (GRCm39) missense probably benign 0.11
R2923:Ccn5 UTSW 2 163,674,266 (GRCm39) missense probably benign 0.11
R4049:Ccn5 UTSW 2 163,670,904 (GRCm39) missense probably damaging 1.00
R4344:Ccn5 UTSW 2 163,670,906 (GRCm39) missense probably damaging 1.00
R5409:Ccn5 UTSW 2 163,667,158 (GRCm39) missense probably damaging 1.00
R5529:Ccn5 UTSW 2 163,667,279 (GRCm39) critical splice donor site probably null
R5663:Ccn5 UTSW 2 163,667,173 (GRCm39) missense probably damaging 1.00
R6401:Ccn5 UTSW 2 163,670,946 (GRCm39) missense probably benign 0.45
R6685:Ccn5 UTSW 2 163,670,868 (GRCm39) missense possibly damaging 0.87
R7242:Ccn5 UTSW 2 163,670,772 (GRCm39) missense probably benign 0.27
R7925:Ccn5 UTSW 2 163,670,961 (GRCm39) missense possibly damaging 0.82
R8701:Ccn5 UTSW 2 163,670,786 (GRCm39) missense probably damaging 1.00
R8962:Ccn5 UTSW 2 163,667,160 (GRCm39) nonsense probably null
R9215:Ccn5 UTSW 2 163,670,966 (GRCm39) missense probably damaging 1.00
R9656:Ccn5 UTSW 2 163,670,985 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTCTGTCTTGCTTAAGAGGGAG -3'
(R):5'- TAGGAGCTGCTGCAATGGAG -3'

Sequencing Primer
(F):5'- CTTGCTTAAGAGGGAGGTGGCC -3'
(R):5'- TGCTGCAATGGAGACCCTG -3'
Posted On 2020-01-23