Incidental Mutation 'R0496:Ccn2'
ID 43942
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 038692-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0496 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 24471340-24474581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24473413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 317 (M317I)
Ref Sequence ENSEMBL: ENSMUSP00000020171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020171] [ENSMUST00000129142] [ENSMUST00000176228]
AlphaFold P29268
Predicted Effect possibly damaging
Transcript: ENSMUST00000020171
AA Change: M317I

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: M317I

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 benign
Transcript: ENSMUST00000129142
SMART Domains Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997

DomainStartEndE-ValueType
IB 3 73 1.45e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141076
Predicted Effect probably benign
Transcript: ENSMUST00000176228
SMART Domains Protein: ENSMUSP00000135147
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
Meta Mutation Damage Score 0.6402 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (99/101)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,005 (GRCm39) K1065E probably damaging Het
4933402N03Rik T C 7: 130,747,860 (GRCm39) N44S probably benign Het
Abca13 A G 11: 9,241,701 (GRCm39) D1188G probably benign Het
Abcb11 C T 2: 69,108,228 (GRCm39) probably benign Het
Abcc8 A T 7: 45,758,244 (GRCm39) I1274N probably damaging Het
Adamtsl1 G A 4: 86,259,435 (GRCm39) C827Y probably damaging Het
Agap3 T A 5: 24,706,241 (GRCm39) V369E probably damaging Het
Ankrd13b G A 11: 77,363,867 (GRCm39) R195C probably damaging Het
Ap3b1 A G 13: 94,609,446 (GRCm39) probably benign Het
Arhgef40 A T 14: 52,242,364 (GRCm39) probably benign Het
Atad5 A G 11: 79,991,182 (GRCm39) I692V probably benign Het
Atp5f1b G T 10: 127,922,043 (GRCm39) R310L possibly damaging Het
AY358078 A T 14: 52,040,989 (GRCm39) M103L unknown Het
Bcl9l T G 9: 44,420,815 (GRCm39) V1370G probably benign Het
Bglap3 T A 3: 88,276,444 (GRCm39) Q38L probably damaging Het
Bltp1 A G 3: 37,041,784 (GRCm39) T2721A probably damaging Het
Cd38 T C 5: 44,026,233 (GRCm39) F6L probably damaging Het
Cela3a A C 4: 137,131,779 (GRCm39) V138G probably damaging Het
Cemip2 A T 19: 21,774,709 (GRCm39) N117I possibly damaging Het
Clvs1 T A 4: 9,424,241 (GRCm39) I229N probably damaging Het
Cpne1 G A 2: 155,921,339 (GRCm39) H16Y probably damaging Het
Ctc1 T C 11: 68,926,333 (GRCm39) L1069P probably damaging Het
Dgkd G A 1: 87,864,622 (GRCm39) S996N probably null Het
Dnah9 A T 11: 65,965,961 (GRCm39) M1685K probably null Het
Dnajb12 C T 10: 59,715,623 (GRCm39) R42* probably null Het
Dock5 T C 14: 68,054,967 (GRCm39) Q633R probably damaging Het
Dync2h1 A G 9: 7,155,180 (GRCm39) M868T probably benign Het
Enpp1 G T 10: 24,547,950 (GRCm39) H208Q probably benign Het
Epha7 T A 4: 28,821,292 (GRCm39) D152E probably damaging Het
Fancd2 T C 6: 113,532,091 (GRCm39) probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gm10964 A T 3: 103,646,745 (GRCm39) probably null Het
Gpbar1 T C 1: 74,318,140 (GRCm39) F128L probably benign Het
Gsx2 T A 5: 75,237,726 (GRCm39) M226K probably benign Het
Gucd1 T C 10: 75,347,100 (GRCm39) D50G possibly damaging Het
Has1 A G 17: 18,064,008 (GRCm39) Y544H probably benign Het
Hc A T 2: 34,903,583 (GRCm39) Y1024N probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ift122 T A 6: 115,882,863 (GRCm39) H659Q probably benign Het
Itga2 T C 13: 114,990,435 (GRCm39) Q902R probably benign Het
Itgb2l T C 16: 96,235,901 (GRCm39) K181E possibly damaging Het
Jak3 A T 8: 72,135,041 (GRCm39) H558L probably damaging Het
Kcnh8 A G 17: 53,032,886 (GRCm39) T58A probably benign Het
Klhl6 GT G 16: 19,775,716 (GRCm39) 279 probably null Het
Krt33a C T 11: 99,903,155 (GRCm39) probably benign Het
Magi2 A T 5: 20,866,357 (GRCm39) probably benign Het
Map4 G A 9: 109,868,918 (GRCm39) probably benign Het
Map4k4 T A 1: 40,045,982 (GRCm39) S754T probably damaging Het
Mapk8ip3 A G 17: 25,133,424 (GRCm39) probably benign Het
Mib1 A G 18: 10,804,773 (GRCm39) S918G probably benign Het
Mipol1 T A 12: 57,503,963 (GRCm39) V377D probably damaging Het
Mlh1 T C 9: 111,070,624 (GRCm39) T364A probably benign Het
Mta1 C T 12: 113,094,941 (GRCm39) Q400* probably null Het
Mthfd1l C G 10: 4,040,006 (GRCm39) R806G probably benign Het
Myh13 C A 11: 67,239,641 (GRCm39) N730K probably damaging Het
Myom1 A G 17: 71,391,301 (GRCm39) K937E probably damaging Het
Naxd T C 8: 11,560,224 (GRCm39) probably benign Het
Negr1 G T 3: 156,721,904 (GRCm39) K159N probably damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or1e1f T C 11: 73,855,706 (GRCm39) S91P probably benign Het
Or2j3 A G 17: 38,615,549 (GRCm39) S268P probably damaging Het
Or51v14 C T 7: 103,261,204 (GRCm39) A119T probably benign Het
Or52r1c T C 7: 102,734,797 (GRCm39) I19T probably damaging Het
Or5d41 A T 2: 88,054,499 (GRCm39) Y292* probably null Het
Pcsk6 G A 7: 65,576,997 (GRCm39) S58N probably benign Het
Pdzrn3 G A 6: 101,127,531 (GRCm39) T1045I possibly damaging Het
Pitrm1 T C 13: 6,618,750 (GRCm39) L641P probably damaging Het
Pkd1l1 G T 11: 8,879,430 (GRCm39) H474N probably damaging Het
Pltp A G 2: 164,694,381 (GRCm39) probably benign Het
Qtrt1 C T 9: 21,330,844 (GRCm39) T324M probably benign Het
Racgap1 A T 15: 99,537,713 (GRCm39) probably benign Het
Rhbg A G 3: 88,161,805 (GRCm39) V50A probably benign Het
Rnf135 G A 11: 80,074,776 (GRCm39) V12M probably damaging Het
Rnf7l G T 10: 63,257,381 (GRCm39) C46* probably null Het
Rufy2 T C 10: 62,828,949 (GRCm39) V117A probably damaging Het
Safb A G 17: 56,912,630 (GRCm39) M866V probably benign Het
Slc35c2 G T 2: 165,122,735 (GRCm39) T183K probably damaging Het
Slc39a7 A G 17: 34,248,512 (GRCm39) L377P probably damaging Het
Slit1 G A 19: 41,596,750 (GRCm39) probably benign Het
Spaca9 G A 2: 28,583,022 (GRCm39) H133Y probably damaging Het
Spout1 A G 2: 30,064,983 (GRCm39) F339S probably benign Het
St6gal2 A G 17: 55,789,015 (GRCm39) I16M probably damaging Het
Stat2 T C 10: 128,112,378 (GRCm39) M6T probably benign Het
Swt1 T A 1: 151,287,021 (GRCm39) H157L probably benign Het
Syne2 A G 12: 76,085,714 (GRCm39) N147D possibly damaging Het
Tmem222 A T 4: 133,004,902 (GRCm39) M45K possibly damaging Het
Tmem30a T A 9: 79,684,567 (GRCm39) H95L probably damaging Het
Tns3 A C 11: 8,497,262 (GRCm39) probably benign Het
Trpm3 A G 19: 22,676,142 (GRCm39) I103V probably benign Het
Ube2n T C 10: 95,377,206 (GRCm39) F57S probably benign Het
Vil1 T C 1: 74,460,499 (GRCm39) S219P possibly damaging Het
Wdfy4 A G 14: 32,862,695 (GRCm39) probably benign Het
Wdr7 T C 18: 63,924,914 (GRCm39) S966P probably benign Het
Wnt8a A G 18: 34,677,900 (GRCm39) N103D probably damaging Het
Zfp523 G A 17: 28,419,419 (GRCm39) E186K possibly damaging Het
Zfp791 A T 8: 85,836,609 (GRCm39) D418E probably benign Het
Zscan20 A G 4: 128,485,682 (GRCm39) V192A probably benign 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
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
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'- GGCAAATGAAACTCCCAGTCTCTCC -3'
(R):5'- GGCACTGTGCGCTAATGAACAAC -3'

Sequencing Primer
(F):5'- CTGTCTTCCTTAGAAGGGCAAAAAG -3'
(R):5'- AACTGTCTCGAAACCAGTGTCTG -3'
Posted On 2013-05-29