Incidental Mutation 'R1241:Ccn5'
ID 151977
Institutional Source Beutler Lab
Gene Symbol Ccn5
Ensembl Gene ENSMUSG00000027656
Gene Name cellular communication network factor 5
Synonyms CCN5, Wisp2, Crgr4, rCop1
MMRRC Submission 039308-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1241 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 163662781-163675066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 163670997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 168 (M168K)
Ref Sequence ENSEMBL: ENSMUSP00000029188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029188]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000029188
AA Change: M168K
SMART Domains Protein: ENSMUSP00000029188
Gene: ENSMUSG00000027656
AA Change: M168K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138730
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
9030619P08Rik A C 15: 75,301,846 (GRCm39) noncoding transcript Het
Aldh1l2 T C 10: 83,331,889 (GRCm39) I639V probably benign Het
Ambra1 T C 2: 91,601,241 (GRCm39) probably benign Het
Ap5z1 T C 5: 142,455,869 (GRCm39) Y299H probably damaging Het
Atp6v1b1 A T 6: 83,733,526 (GRCm39) probably benign Het
Atr G A 9: 95,832,689 (GRCm39) V2574I probably benign Het
Atxn1l T A 8: 110,459,612 (GRCm39) T217S probably benign Het
Ccdc85a A G 11: 28,346,150 (GRCm39) S89P probably benign Het
Cd209e A T 8: 3,899,124 (GRCm39) I196N probably damaging Het
Cdhr4 A G 9: 107,872,495 (GRCm39) S247G probably benign Het
Cntn6 A T 6: 104,809,470 (GRCm39) I502F probably damaging Het
Crisp4 T C 1: 18,193,018 (GRCm39) Y233C probably damaging Het
Ctsb C A 14: 63,376,553 (GRCm39) T261N probably benign Het
Ctsk T C 3: 95,408,185 (GRCm39) F14L probably benign Het
Dchs1 T C 7: 105,407,385 (GRCm39) I2110V probably damaging Het
Dennd5b A G 6: 148,969,988 (GRCm39) M155T probably benign Het
Echdc3 T C 2: 6,217,611 (GRCm39) D54G probably benign Het
Egln3 G A 12: 54,228,479 (GRCm39) T209I probably damaging Het
Fbn1 A C 2: 125,214,447 (GRCm39) probably benign Het
Fkbp15 A T 4: 62,222,846 (GRCm39) S1018T possibly damaging Het
Flnb T C 14: 7,896,503 (GRCm38) I898T probably benign Het
Flt1 T A 5: 147,536,456 (GRCm39) Y795F probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fryl T C 5: 73,267,614 (GRCm39) E417G probably damaging Het
Fryl A G 5: 73,222,268 (GRCm39) probably benign Het
Gcnt3 T C 9: 69,941,615 (GRCm39) I318V probably benign Het
Gm11437 T A 11: 84,055,454 (GRCm39) H54L possibly damaging Het
Huwe1 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA X: 150,690,044 (GRCm39) probably benign Het
Jarid2 G A 13: 45,038,368 (GRCm39) probably benign Het
Kif5b A T 18: 6,214,044 (GRCm39) V653E probably benign Het
Kmt2b A G 7: 30,274,365 (GRCm39) V2113A probably damaging Het
Knl1 C T 2: 118,903,054 (GRCm39) T1585I probably benign Het
Mlxipl T A 5: 135,161,572 (GRCm39) M497K probably benign Het
Mre11a T A 9: 14,710,935 (GRCm39) W210R probably damaging Het
Mrps22 A G 9: 98,476,748 (GRCm39) V207A probably benign Het
Myo15a A G 11: 60,390,256 (GRCm39) I2111V possibly damaging Het
Myo1a C T 10: 127,555,148 (GRCm39) P838L probably benign Het
Nbea T A 3: 55,965,461 (GRCm39) H484L probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nlrp2 T A 7: 5,331,430 (GRCm39) D322V probably damaging Het
Nrcam T C 12: 44,636,947 (GRCm39) C1057R probably damaging Het
Ntsr1 T C 2: 180,142,394 (GRCm39) S62P probably damaging Het
Nudt18 A G 14: 70,816,867 (GRCm39) H157R probably benign Het
Or10s1 C A 9: 39,986,192 (GRCm39) N200K probably damaging Het
Or5g25 T A 2: 85,477,904 (GRCm39) T254S probably damaging Het
Sidt2 T C 9: 45,857,002 (GRCm39) T435A probably damaging Het
Snx27 T C 3: 94,427,540 (GRCm39) T312A probably benign Het
Srebf2 T C 15: 82,061,720 (GRCm39) S429P probably damaging Het
Suclg2 A G 6: 95,474,563 (GRCm39) probably benign Het
Tchh A T 3: 93,352,279 (GRCm39) E573V unknown Het
Tdrd1 A G 19: 56,850,192 (GRCm39) T985A probably benign Het
Ttc7b A G 12: 100,369,698 (GRCm39) I357T possibly damaging Het
Ttn T C 2: 76,626,008 (GRCm39) E13271G probably damaging Het
Usp13 A G 3: 32,969,857 (GRCm39) E661G probably damaging Het
Vasp T G 7: 18,992,958 (GRCm39) probably benign Het
Vmn2r109 A T 17: 20,775,503 (GRCm39) Y75N possibly damaging Het
Vmn2r15 T A 5: 109,440,770 (GRCm39) N363Y probably damaging Het
Vmn2r60 T A 7: 41,786,476 (GRCm39) N426K probably benign Het
Znhit2 C A 19: 6,112,288 (GRCm39) N344K 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
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
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
(F):5'- ACCTGGATGGGGAGACCTTTAAACC -3'
(R):5'- CCCTGACTTAGCCACCTGAACTTG -3'

Sequencing Primer
(F):5'- GGGAGACCTTTAAACCCAATTGC -3'
(R):5'- cccagaccctcacaagaac -3'
Posted On 2014-01-29