Incidental Mutation 'R0600:Ccn5'
ID 55275
Institutional Source Beutler Lab
Gene Symbol Ccn5
Ensembl Gene ENSMUSG00000027656
Gene Name cellular communication network factor 5
Synonyms CCN5, Wisp2, Crgr4, rCop1
MMRRC Submission 038789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0600 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 163662781-163675066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 163667233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 78 (C78Y)
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: C78Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029188
Gene: ENSMUSG00000027656
AA Change: C78Y

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 0.9506 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.5%
Validation Efficiency 99% (95/96)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A G 7: 130,959,389 (GRCm39) S150P probably damaging Het
5530400C23Rik T G 6: 133,270,174 (GRCm39) probably benign Het
Ahctf1 A C 1: 179,591,033 (GRCm39) probably null Het
Ang5 T C 14: 44,200,206 (GRCm39) V90A probably benign Het
Ano9 C T 7: 140,684,623 (GRCm39) G442R probably damaging Het
Apaf1 G A 10: 90,895,914 (GRCm39) T386I probably damaging Het
Apob C A 12: 8,056,440 (GRCm39) H1608N probably damaging Het
Arhgap12 C A 18: 6,064,433 (GRCm39) probably benign Het
Asxl1 T A 2: 153,241,824 (GRCm39) D791E probably benign Het
Avl9 T C 6: 56,713,891 (GRCm39) V383A probably benign Het
Btbd1 A C 7: 81,465,754 (GRCm39) D197E probably damaging Het
Camta2 T C 11: 70,564,785 (GRCm39) I938V possibly damaging Het
Cdca7 C A 2: 72,313,811 (GRCm39) A200D possibly damaging Het
Cep104 A T 4: 154,091,249 (GRCm39) Y923F possibly damaging Het
Cep135 G C 5: 76,769,152 (GRCm39) V601L probably benign Het
Ces2b G A 8: 105,562,542 (GRCm39) G291S probably benign Het
Col6a6 C T 9: 105,638,639 (GRCm39) G1400D probably damaging Het
Cyth2 T C 7: 45,462,541 (GRCm39) E1G probably damaging Het
Dand5 A T 8: 85,542,921 (GRCm39) L185Q probably damaging Het
Dck T C 5: 88,929,080 (GRCm39) V253A probably benign Het
Ddx20 A G 3: 105,586,396 (GRCm39) S650P probably damaging Het
Dicer1 G A 12: 104,673,123 (GRCm39) P799S probably damaging Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eya2 G A 2: 165,611,157 (GRCm39) C477Y probably damaging Het
Fip1l1 T A 5: 74,756,503 (GRCm39) N498K probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Galntl6 T C 8: 58,290,217 (GRCm39) probably null Het
Gda A T 19: 21,411,667 (GRCm39) F44I possibly damaging Het
Gli2 G A 1: 118,768,119 (GRCm39) R703C probably damaging Het
Golgb1 T A 16: 36,736,633 (GRCm39) L1960Q probably damaging Het
Gramd1b T C 9: 40,219,651 (GRCm39) D341G probably damaging Het
Grid2 G T 6: 63,480,419 (GRCm39) A78S probably benign Het
Hao2 A T 3: 98,790,876 (GRCm39) probably benign Het
Hook3 A G 8: 26,609,014 (GRCm39) V10A probably benign Het
Kif20a A G 18: 34,762,262 (GRCm39) E425G probably damaging Het
Lrp1 T C 10: 127,403,252 (GRCm39) D2107G probably benign Het
Lrriq3 T C 3: 154,893,373 (GRCm39) I358T possibly damaging Het
Mad2l2 A G 4: 148,225,381 (GRCm39) D17G possibly damaging Het
Mastl G T 2: 23,023,358 (GRCm39) T455K probably benign Het
Mkln1 G T 6: 31,409,862 (GRCm39) probably benign Het
Mmp1b A T 9: 7,387,947 (GRCm39) Y16N possibly damaging Het
Mmp24 C T 2: 155,634,517 (GRCm39) A79V probably benign Het
Mrps35 T A 6: 146,972,232 (GRCm39) C292S possibly damaging Het
Myom1 T C 17: 71,427,643 (GRCm39) F1435L possibly damaging Het
Nars2 C T 7: 96,689,130 (GRCm39) H351Y probably damaging Het
Nat2 A T 8: 67,953,919 (GRCm39) I10F probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Olfm5 A T 7: 103,803,076 (GRCm39) Y462* probably null Het
Or13p5 C T 4: 118,591,986 (GRCm39) H87Y probably damaging Het
Or1j12 C A 2: 36,342,660 (GRCm39) A21E probably benign Het
Or2w3 C A 11: 58,556,986 (GRCm39) F200L probably damaging Het
Or4c122 C A 2: 89,079,742 (GRCm39) E87* probably null Het
Or4e1 T C 14: 52,700,966 (GRCm39) I167V probably benign Het
Or5p70 T A 7: 107,994,438 (GRCm39) I37N probably damaging Het
Or7g35 T C 9: 19,496,600 (GRCm39) S256P possibly damaging Het
Or8d2b T A 9: 38,789,111 (GRCm39) I213N probably damaging Het
Or8g20 A T 9: 39,396,284 (GRCm39) F85L probably benign Het
Otog A T 7: 45,900,819 (GRCm39) probably benign Het
Pdcd2l A T 7: 33,892,232 (GRCm39) D212E possibly damaging Het
Pex5 T C 6: 124,381,596 (GRCm39) N213S probably benign Het
Pkn3 C T 2: 29,971,146 (GRCm39) P238S probably benign Het
Pramel32 A T 4: 88,547,536 (GRCm39) I45K probably damaging Het
Prl2b1 A T 13: 27,574,723 (GRCm39) probably null Het
Ptprb A T 10: 116,204,712 (GRCm39) I1849L possibly damaging Het
Rasal3 G T 17: 32,612,500 (GRCm39) S787Y probably damaging Het
Scn2a T A 2: 65,532,177 (GRCm39) D596E possibly damaging Het
Sdhd A T 9: 50,515,064 (GRCm39) V9D possibly damaging Het
Serinc5 T C 13: 92,844,565 (GRCm39) S436P probably damaging Het
Slc27a1 C T 8: 72,036,808 (GRCm39) P348L probably damaging Het
Slc28a2b A T 2: 122,344,879 (GRCm39) I162F probably damaging Het
Smg1 G A 7: 117,759,606 (GRCm39) probably benign Het
Sorl1 A T 9: 41,955,196 (GRCm39) probably benign Het
Sprtn T A 8: 125,626,957 (GRCm39) H112Q probably damaging Het
Tasor2 A T 13: 3,626,054 (GRCm39) F1299I probably benign Het
Tet2 A G 3: 133,173,363 (GRCm39) M1633T probably benign Het
Tet2 T A 3: 133,173,486 (GRCm39) D1592V probably benign Het
Tmem68 A T 4: 3,569,667 (GRCm39) C8S probably damaging Het
Tnrc6a T A 7: 122,771,039 (GRCm39) I943N probably benign Het
Trib2 A T 12: 15,844,069 (GRCm39) V191D probably damaging Het
Tsc22d4 T C 5: 137,760,917 (GRCm39) S113P probably damaging Het
Ttc21b T C 2: 66,069,914 (GRCm39) R250G probably damaging Het
Ubr2 T C 17: 47,278,174 (GRCm39) Y721C probably damaging Het
Ubtfl1 A T 9: 18,320,660 (GRCm39) I63F probably damaging Het
Ush1c G A 7: 45,874,332 (GRCm39) P171S probably benign Het
Utp20 A T 10: 88,603,323 (GRCm39) N1843K probably damaging Het
Vangl1 A G 3: 102,074,253 (GRCm39) Y285H probably damaging Het
Virma A G 4: 11,498,769 (GRCm39) D70G probably damaging Het
Vmn2r102 T C 17: 19,898,277 (GRCm39) F431L probably benign Het
Wdr17 A G 8: 55,114,530 (GRCm39) I662T probably damaging Het
Wdr87-ps T A 7: 29,232,690 (GRCm39) noncoding transcript Het
Zfp160 G A 17: 21,247,268 (GRCm39) R606H probably benign Het
Zfp369 C T 13: 65,444,248 (GRCm39) R464C 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
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
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 2013-07-11