Incidental Mutation 'R7067:Ccn2'
ID 548640
Institutional Source Beutler Lab
Gene Symbol Ccn2
Ensembl Gene ENSMUSG00000019997
Gene Name cellular communication network factor 2
Synonyms Ccn2, Fisp12, hypertrophic chondrocyte-specific gene product 24, Ctgf, Hcs24
MMRRC Submission 045163-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7067 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 24471340-24474581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24472873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 261 (Y261C)
Ref Sequence ENSEMBL: ENSMUSP00000135147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020171] [ENSMUST00000129142] [ENSMUST00000176228]
AlphaFold P29268
Predicted Effect probably benign
Transcript: ENSMUST00000020171
SMART Domains Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997

DomainStartEndE-ValueType
IB 26 96 1.45e-25 SMART
VWC 102 165 8.52e-22 SMART
TSP1 199 242 7.27e-7 SMART
CT 260 329 1.17e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129142
SMART Domains Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997

DomainStartEndE-ValueType
IB 3 73 1.45e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176228
AA Change: Y261C

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: Y261C

DomainStartEndE-ValueType
IB 26 96 1.45e-25 SMART
VWC 102 165 8.52e-22 SMART
TSP1 199 242 7.27e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice die at birth from respiratory failure due to axial skeletal defects and pulmonary hypoplasia associated with reduced cell proliferation, enhanced apoptosis and altered pneumocyte maturation. Osteogenesis is impaired due to impaired chondrogenesis and growth plate angiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,921 (GRCm39) S72C probably damaging Het
Abca13 A G 11: 9,241,845 (GRCm39) D1236G probably benign Het
Abcc6 T C 7: 45,668,114 (GRCm39) N165D probably benign Het
Aebp1 A G 11: 5,816,431 (GRCm39) probably null Het
Afg2a C T 3: 37,485,847 (GRCm39) Q190* probably null Het
Anapc4 A G 5: 53,019,577 (GRCm39) T580A probably benign Het
Apob T C 12: 8,059,423 (GRCm39) I2602T probably damaging Het
Arap2 A G 5: 62,811,387 (GRCm39) probably null Het
Asap3 T A 4: 135,968,673 (GRCm39) probably null Het
Bend4 A G 5: 67,557,611 (GRCm39) Y402H probably damaging Het
Crtc2 A G 3: 90,167,489 (GRCm39) N271S probably benign Het
Csf2rb2 A T 15: 78,176,694 (GRCm39) W233R probably damaging Het
Cyp2u1 G A 3: 131,087,202 (GRCm39) L460F probably damaging Het
Dnm3 A G 1: 162,148,540 (GRCm39) L277P probably damaging Het
Efemp1 A T 11: 28,817,926 (GRCm39) N135I probably damaging Het
Elapor2 G T 5: 9,316,295 (GRCm39) A9S possibly damaging Het
Fsip2 T A 2: 82,811,078 (GRCm39) S2466T possibly damaging Het
Gal3st2 C T 1: 93,802,447 (GRCm39) A276V possibly damaging Het
Gm47985 A T 1: 151,059,241 (GRCm39) D294V unknown Het
Golga1 A T 2: 38,937,731 (GRCm39) D104E probably benign Het
Hnrnpr C T 4: 136,054,704 (GRCm39) A219V probably damaging Het
Hsd3b7 T C 7: 127,399,888 (GRCm39) probably null Het
Hspa8 T C 9: 40,715,921 (GRCm39) I562T probably damaging Het
Htra4 C T 8: 25,523,717 (GRCm39) V283M probably damaging Het
Il36rn C T 2: 24,167,541 (GRCm39) R11* probably null Het
Iqcd A G 5: 120,743,212 (GRCm39) T325A probably damaging Het
Kif23 A T 9: 61,832,271 (GRCm39) M624K probably benign Het
Krt25 G T 11: 99,208,209 (GRCm39) Q340K probably benign Het
Lamp3 T A 16: 19,518,413 (GRCm39) N275Y probably damaging Het
Lpin2 A C 17: 71,551,853 (GRCm39) K789T possibly damaging Het
Mroh2b T C 15: 4,929,986 (GRCm39) I24T probably benign Het
Muc16 T A 9: 18,569,547 (GRCm39) I991F unknown Het
Ntf5 T A 7: 45,065,048 (GRCm39) L60Q probably damaging Het
Nuak1 A G 10: 84,276,158 (GRCm39) S22P possibly damaging Het
Obox8 T C 7: 14,066,979 (GRCm39) T22A possibly damaging Het
Or8k21 T A 2: 86,144,911 (GRCm39) T240S probably damaging Het
Pde8a T C 7: 80,967,074 (GRCm39) V405A probably benign Het
Phc2 T C 4: 128,640,934 (GRCm39) S147P probably benign Het
Pole G T 5: 110,482,084 (GRCm39) G142V probably damaging Het
Poli G A 18: 70,642,488 (GRCm39) Q508* probably null Het
Repin1 T A 6: 48,574,850 (GRCm39) L537* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Slc30a2 T A 4: 134,071,529 (GRCm39) probably null Het
Slit3 A G 11: 35,399,057 (GRCm39) S141G probably benign Het
Spon2 A G 5: 33,371,958 (GRCm39) S283P probably damaging Het
Srgap3 A T 6: 112,734,266 (GRCm39) probably benign Het
Syde2 A G 3: 145,694,019 (GRCm39) D89G probably benign Het
Syne1 A G 10: 5,184,586 (GRCm39) I4099T probably damaging Het
Syt5 T C 7: 4,546,075 (GRCm39) D105G probably benign Het
Tlx3 C T 11: 33,153,204 (GRCm39) G86S probably damaging Het
Trim24 A T 6: 37,934,775 (GRCm39) probably null Het
Umodl1 G A 17: 31,201,246 (GRCm39) V392I probably damaging Het
Unc80 C A 1: 66,685,731 (GRCm39) T2285K possibly damaging Het
Vars1 G A 17: 35,230,455 (GRCm39) V513I probably damaging Het
Vmn1r87 T A 7: 12,865,849 (GRCm39) Q146L probably benign Het
Vmn2r62 T C 7: 42,414,302 (GRCm39) I714V probably benign Het
Xbp1 T A 11: 5,474,275 (GRCm39) S159T probably damaging Het
Xrn1 T A 9: 95,851,565 (GRCm39) H194Q probably damaging Het
Zc3h4 A T 7: 16,162,976 (GRCm39) K459* probably null Het
Zdhhc6 G A 19: 55,292,871 (GRCm39) R292* probably null Het
Zfp383 T A 7: 29,608,071 (GRCm39) M1K probably null Het
Zfp703 A G 8: 27,469,044 (GRCm39) D236G probably damaging Het
Other mutations in Ccn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Ccn2 APN 10 24,472,307 (GRCm39) missense probably damaging 1.00
IGL02994:Ccn2 APN 10 24,472,763 (GRCm39) missense probably damaging 1.00
PIT4131001:Ccn2 UTSW 10 24,471,988 (GRCm39) missense probably damaging 0.97
R0443:Ccn2 UTSW 10 24,471,701 (GRCm39) splice site probably benign
R0496:Ccn2 UTSW 10 24,473,413 (GRCm39) missense possibly damaging 0.51
R0538:Ccn2 UTSW 10 24,472,364 (GRCm39) missense probably damaging 1.00
R1599:Ccn2 UTSW 10 24,473,297 (GRCm39) missense probably benign 0.08
R1721:Ccn2 UTSW 10 24,472,695 (GRCm39) missense probably damaging 1.00
R2095:Ccn2 UTSW 10 24,472,377 (GRCm39) missense probably benign 0.41
R2230:Ccn2 UTSW 10 24,472,371 (GRCm39) missense possibly damaging 0.61
R2322:Ccn2 UTSW 10 24,472,732 (GRCm39) missense probably damaging 1.00
R4913:Ccn2 UTSW 10 24,473,225 (GRCm39) missense probably damaging 1.00
R5697:Ccn2 UTSW 10 24,473,354 (GRCm39) missense probably benign
R6705:Ccn2 UTSW 10 24,471,853 (GRCm39) missense probably damaging 0.99
R7427:Ccn2 UTSW 10 24,473,397 (GRCm39) missense probably damaging 0.99
R8559:Ccn2 UTSW 10 24,471,966 (GRCm39) frame shift probably null
R9036:Ccn2 UTSW 10 24,472,647 (GRCm39) missense probably benign 0.01
R9223:Ccn2 UTSW 10 24,471,856 (GRCm39) missense probably benign 0.37
R9375:Ccn2 UTSW 10 24,473,501 (GRCm39) missense possibly damaging 0.88
R9383:Ccn2 UTSW 10 24,471,883 (GRCm39) missense possibly damaging 0.94
R9727:Ccn2 UTSW 10 24,471,820 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGACACATTTGGCCCAGACC -3'
(R):5'- CTTGAATTAACTAGCACCACGG -3'

Sequencing Primer
(F):5'- TATGATGCGAGCCAACTGC -3'
(R):5'- CTAGCACCACGGGGAATTTTG -3'
Posted On 2019-05-13