Incidental Mutation 'R2230:Ccn2'
ID 240003
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 040231-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2230 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 24471340-24474581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24472371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 138 (M138K)
Ref Sequence ENSEMBL: ENSMUSP00000135147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020171] [ENSMUST00000129142] [ENSMUST00000176228]
AlphaFold P29268
Predicted Effect probably benign
Transcript: ENSMUST00000020171
AA Change: M138K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: M138K

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 possibly damaging
Transcript: ENSMUST00000176228
AA Change: M138K

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: M138K

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 0.0701 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,521,347 (GRCm39) N280K probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Ankra2 T C 13: 98,407,646 (GRCm39) F199L probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Apoa2 A G 1: 171,053,340 (GRCm39) K53R probably benign Het
Atr A G 9: 95,802,818 (GRCm39) R1827G probably damaging Het
Ccdc61 T C 7: 18,625,032 (GRCm39) E502G probably damaging Het
Cdon T C 9: 35,403,222 (GRCm39) probably null Het
Cyp2c68 T A 19: 39,687,804 (GRCm39) S398C probably benign Het
Cyp2e1 T C 7: 140,344,827 (GRCm39) S98P probably damaging Het
Dock2 T A 11: 34,244,323 (GRCm39) I1036F probably damaging Het
Entpd7 T C 19: 43,710,255 (GRCm39) V304A probably benign Het
Entrep2 G A 7: 64,408,970 (GRCm39) H475Y probably damaging Het
Ergic3 A G 2: 155,859,736 (GRCm39) T346A probably damaging Het
F2 T C 2: 91,456,102 (GRCm39) D553G probably benign Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Gm10650 A G 3: 127,833,412 (GRCm39) noncoding transcript Het
Gm21850 G T 2: 153,900,248 (GRCm39) V202L probably benign Het
Hdc T A 2: 126,435,938 (GRCm39) E644D possibly damaging Het
Hypk G A 2: 121,287,773 (GRCm39) probably null Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
Mgll G A 6: 88,802,714 (GRCm39) V318M possibly damaging Het
Mrgprb3 T C 7: 48,292,770 (GRCm39) I260M probably benign Het
Musk A T 4: 58,333,672 (GRCm39) I256F possibly damaging Het
Myl3 T C 9: 110,596,979 (GRCm39) L113P probably damaging Het
Myo5c A G 9: 75,180,888 (GRCm39) D759G probably benign Het
Nkx2-1 G A 12: 56,580,071 (GRCm39) Q290* probably null Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or10j7 A G 1: 173,011,182 (GRCm39) I273T probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Or7g16 A G 9: 18,727,021 (GRCm39) S190P probably damaging Het
Or8c13 T C 9: 38,091,442 (GRCm39) T226A probably benign Het
Pabpc2 G A 18: 39,908,123 (GRCm39) V463I probably benign Het
Piezo2 A T 18: 63,278,143 (GRCm39) C254S probably damaging Het
Plxnd1 C A 6: 115,941,105 (GRCm39) R1302L probably damaging Het
Pnpla7 T C 2: 24,941,610 (GRCm39) probably benign Het
Ppl G A 16: 4,906,845 (GRCm39) T1150I possibly damaging Het
Prkag2 G T 5: 25,113,362 (GRCm39) A113E probably benign Het
Proz A G 8: 13,113,356 (GRCm39) Y59C probably damaging Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Sec14l5 A G 16: 4,994,345 (GRCm39) T380A probably damaging Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Sspo A G 6: 48,425,606 (GRCm39) I76V probably damaging Het
Sspo C A 6: 48,477,437 (GRCm39) Q5123K probably benign Het
Tbc1d21 A C 9: 58,270,363 (GRCm39) N137K probably damaging Het
Tek G A 4: 94,699,573 (GRCm39) C317Y probably damaging Het
Tet3 T C 6: 83,346,453 (GRCm39) D1328G probably damaging Het
Topbp1 T A 9: 103,223,047 (GRCm39) I1377N probably damaging Het
Trmt9b T A 8: 36,979,707 (GRCm39) C437S probably damaging Het
Ttf2 A G 3: 100,865,260 (GRCm39) V544A probably damaging Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Ugt2b38 A G 5: 87,569,527 (GRCm39) F267L probably benign Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Vwa5a G A 9: 38,645,174 (GRCm39) G420R probably null Het
Vwa8 T C 14: 79,329,843 (GRCm39) probably null Het
Zfp708 A T 13: 67,219,036 (GRCm39) Y229* probably null Het
Zzef1 T A 11: 72,775,242 (GRCm39) M1745K 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
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'- TAGCTGTTCTGATCCCTGTGAC -3'
(R):5'- ACAATTTCCCCTTAATTTGGTGGAC -3'

Sequencing Primer
(F):5'- TGTGACCCTACGCCTGAC -3'
(R):5'- GCATTGGCCCTGAAGTTGG -3'
Posted On 2014-10-15