Incidental Mutation 'R6705:Ccn2'
ID 528904
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 044823-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6705 (G1)
Quality Score 179.009
Status Validated
Chromosome 10
Chromosomal Location 24471340-24474581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24471853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 25 (L25Q)
Ref Sequence ENSEMBL: ENSMUSP00000135212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020171] [ENSMUST00000129142] [ENSMUST00000176228]
AlphaFold P29268
Predicted Effect possibly damaging
Transcript: ENSMUST00000020171
AA Change: L48Q

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: L48Q

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 noncoding transcript
Transcript: ENSMUST00000125158
Predicted Effect probably damaging
Transcript: ENSMUST00000129142
AA Change: L25Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997
AA Change: L25Q

DomainStartEndE-ValueType
IB 3 73 1.45e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141076
Predicted Effect probably damaging
Transcript: ENSMUST00000176228
AA Change: L48Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: L48Q

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (44/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,204,253 (GRCm39) T46I probably benign Het
Afdn G A 17: 14,108,283 (GRCm39) V1269I probably benign Het
Aldh5a1 A T 13: 25,096,253 (GRCm39) N448K probably damaging Het
Cant1 G T 11: 118,298,698 (GRCm39) T355K probably damaging Het
Comp C A 8: 70,829,387 (GRCm39) N321K probably damaging Het
D1Pas1 G T 1: 186,700,576 (GRCm39) E168D probably benign Het
Ddx23 G A 15: 98,550,849 (GRCm39) R111* probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin2 T A 8: 27,526,468 (GRCm39) L276Q probably damaging Het
Etaa1 T C 11: 17,895,639 (GRCm39) N826S probably benign Het
Fam168b A T 1: 34,867,864 (GRCm39) N45K probably damaging Het
Gas2l2 G A 11: 83,313,462 (GRCm39) R617* probably null Het
Gtf3c2 C A 5: 31,323,352 (GRCm39) C533F possibly damaging Het
Hdac5 T C 11: 102,092,062 (GRCm39) T676A probably damaging Het
Helb A G 10: 119,925,716 (GRCm39) probably null Het
Igkv3-7 A T 6: 70,585,004 (GRCm39) S95C probably benign Het
Kdm3b A G 18: 34,952,926 (GRCm39) I899V probably damaging Het
Lgr5 G A 10: 115,423,193 (GRCm39) S69F probably damaging Het
Lrrc55 A T 2: 85,026,699 (GRCm39) D108E probably benign Het
Mphosph9 T C 5: 124,429,027 (GRCm39) N667S possibly damaging Het
Myf6 C T 10: 107,329,690 (GRCm39) V198M possibly damaging Het
Nav2 T C 7: 49,201,664 (GRCm39) S1413P probably damaging Het
Nfe2l1 A C 11: 96,718,451 (GRCm39) V28G probably damaging Het
Nup210 G T 6: 91,064,942 (GRCm39) T186K possibly damaging Het
Or13a18 T A 7: 140,190,697 (GRCm39) M206K probably damaging Het
Or6c1b G A 10: 129,272,941 (GRCm39) D87N probably benign Het
Or8b12 T A 9: 37,658,030 (GRCm39) I200N possibly damaging Het
Or8b4 T A 9: 37,830,080 (GRCm39) N42K probably damaging Het
Ppfia1 G A 7: 144,072,911 (GRCm39) T301M possibly damaging Het
Ppp1r14c A T 10: 3,316,890 (GRCm39) Y75F probably damaging Het
Ppp1r3g C A 13: 36,152,880 (GRCm39) A100E probably benign Het
Rictor A G 15: 6,823,493 (GRCm39) T1557A probably benign Het
Shc1 C T 3: 89,330,266 (GRCm39) R67* probably null Het
Skint10 A T 4: 112,630,301 (GRCm39) probably benign Het
Slk A G 19: 47,597,498 (GRCm39) N102S probably benign Het
Tbc1d5 T C 17: 51,332,203 (GRCm39) probably benign Het
Tiam2 G A 17: 3,568,518 (GRCm39) V1555I probably benign Het
Vmn1r174 C A 7: 23,453,851 (GRCm39) S172R probably benign Het
Vps39 A T 2: 120,151,157 (GRCm39) N823K probably benign Het
Wdr27 A T 17: 15,154,852 (GRCm39) Y22N probably damaging Het
Xrn2 A G 2: 146,878,582 (GRCm39) probably null Het
Zbp1 A T 2: 173,055,680 (GRCm39) C161* probably null Het
Zfp236 T A 18: 82,651,862 (GRCm39) E821V 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
R7067:Ccn2 UTSW 10 24,472,873 (GRCm39) missense probably benign 0.14
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'- GAGCGTATAAAAGCCAGCGC -3'
(R):5'- TCCAACACCAAAAGGTGAGG -3'

Sequencing Primer
(F):5'- ATCAGCCTCGCCTTGGTG -3'
(R):5'- TGAGGCCTCTGCAAAGGG -3'
Posted On 2018-07-24