Incidental Mutation 'R2923:Ccn5'
ID 255608
Institutional Source Beutler Lab
Gene Symbol Ccn5
Ensembl Gene ENSMUSG00000027656
Gene Name cellular communication network factor 5
Synonyms CCN5, Wisp2, Crgr4, rCop1
MMRRC Submission 040508-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2923 (G1)
Quality Score 207
Status Validated
Chromosome 2
Chromosomal Location 163662781-163675066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 163674266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 222 (R222Q)
Ref Sequence ENSEMBL: ENSMUSP00000029188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029188]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029188
AA Change: R222Q

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029188
Gene: ENSMUSG00000027656
AA Change: R222Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138730
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,467,518 (GRCm39) C368S probably damaging Het
Adamts3 T C 5: 90,009,393 (GRCm39) D90G possibly damaging Het
Astn2 T C 4: 65,832,010 (GRCm39) Y500C probably damaging Het
Atp12a A T 14: 56,612,079 (GRCm39) T418S probably benign Het
Atp6v0a2 C T 5: 124,794,981 (GRCm39) T656M possibly damaging Het
Camsap2 G A 1: 136,208,547 (GRCm39) P971S possibly damaging Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Cemip2 A G 19: 21,795,303 (GRCm39) D732G possibly damaging Het
Clpb A G 7: 101,372,035 (GRCm39) D257G probably benign Het
Cpb2 T C 14: 75,493,473 (GRCm39) probably null Het
D430041D05Rik G A 2: 104,085,660 (GRCm39) T164I possibly damaging Het
Dhx40 T G 11: 86,680,089 (GRCm39) Q416P probably benign Het
Dnah17 A G 11: 117,984,373 (GRCm39) F1636S probably damaging Het
Fhl3 T C 4: 124,599,463 (GRCm39) S13P probably damaging Het
Gapvd1 A T 2: 34,578,875 (GRCm39) I1249N probably damaging Het
Gm10604 C T 4: 11,980,122 (GRCm39) A61T unknown Het
Gm20939 T A 17: 95,184,721 (GRCm39) H456Q probably damaging Het
Golga4 T A 9: 118,388,411 (GRCm39) S1844R possibly damaging Het
Grm6 G C 11: 50,755,348 (GRCm39) G827R probably damaging Het
Grm7 T A 6: 111,472,866 (GRCm39) probably null Het
Hdc G A 2: 126,435,910 (GRCm39) P654S probably damaging Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Ipo9 G T 1: 135,327,867 (GRCm39) Q515K probably benign Het
Kcnk3 T C 5: 30,779,414 (GRCm39) S155P probably damaging Het
Mboat2 T A 12: 25,004,239 (GRCm39) W347R probably damaging Het
Mib1 C T 18: 10,760,831 (GRCm39) Q374* probably null Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nipal3 A T 4: 135,204,776 (GRCm39) I125N probably damaging Het
Or4c113 A G 2: 88,884,843 (GRCm39) V309A probably benign Het
Or51a43 A G 7: 103,717,794 (GRCm39) V148A probably benign Het
Ovch2 A G 7: 107,389,596 (GRCm39) L317P possibly damaging Het
Pnpla2 T A 7: 141,035,380 (GRCm39) C61S probably benign Het
Ppp1r16b G T 2: 158,598,877 (GRCm39) L312F probably damaging Het
Rdm1 T A 11: 101,521,716 (GRCm39) L157H possibly damaging Het
Rpl22 C A 4: 152,412,002 (GRCm39) T26N possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Serpinb5 G A 1: 106,803,770 (GRCm39) S152N probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
St8sia1 A T 6: 142,774,963 (GRCm39) F205L probably damaging Het
Stab2 A G 10: 86,697,325 (GRCm39) Y1988H probably damaging Het
Susd3 A T 13: 49,401,945 (GRCm39) M1K probably null Het
Syne3 A T 12: 104,934,343 (GRCm39) L55Q probably damaging Het
Tmx1 T A 12: 70,512,895 (GRCm39) C268S probably benign Het
Ttll1 T C 15: 83,376,760 (GRCm39) K321R probably damaging Het
Zdhhc18 G T 4: 133,360,455 (GRCm39) H82Q probably benign Het
Zhx1 T C 15: 57,917,077 (GRCm39) I390V 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
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
R8066:Ccn5 UTSW 2 163,670,862 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2014-12-29