Incidental Mutation 'R9223:Ccn2'
ID 699606
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 068959-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9223 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 24471340-24474581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24471856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 49 (V49A)
Ref Sequence ENSEMBL: ENSMUSP00000020171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020171] [ENSMUST00000129142] [ENSMUST00000176228]
AlphaFold P29268
Predicted Effect probably benign
Transcript: ENSMUST00000020171
AA Change: V49A

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: V49A

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
AA Change: V26A

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997
AA Change: V26A

DomainStartEndE-ValueType
IB 3 73 1.45e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176228
AA Change: V49A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: V49A

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik C A 9: 101,820,193 (GRCm39) D204E possibly damaging Het
Aldh3a2 A G 11: 61,156,037 (GRCm39) S80P probably benign Het
Bcl6b A T 11: 70,117,400 (GRCm39) Y407* probably null Het
Cel TTA TTATA 2: 28,449,441 (GRCm39) probably null Het
Cerkl A T 2: 79,171,674 (GRCm39) C395S probably damaging Het
Chst5 C A 8: 112,617,492 (GRCm39) V43L probably benign Het
Clip1 A T 5: 123,784,337 (GRCm39) F271I probably damaging Het
Clspn A G 4: 126,484,411 (GRCm39) T1190A possibly damaging Het
Col20a1 A T 2: 180,648,528 (GRCm39) E938D probably damaging Het
Dmrta2 G A 4: 109,839,779 (GRCm39) V509M probably damaging Het
Dnah7b T A 1: 46,361,420 (GRCm39) M3440K probably benign Het
Erlin1 A G 19: 44,029,184 (GRCm39) probably null Het
Fam24b A G 7: 130,927,869 (GRCm39) S107P probably benign Het
Fancm T A 12: 65,149,358 (GRCm39) I708N probably benign Het
Fbxo11 A T 17: 88,323,124 (GRCm39) D12E Het
Fbxw13 T C 9: 109,024,116 (GRCm39) D39G probably damaging Het
Gabrb3 T G 7: 57,466,152 (GRCm39) L322R probably damaging Het
Gm5239 A T 18: 35,669,672 (GRCm39) I13F possibly damaging Het
Heatr1 A G 13: 12,419,802 (GRCm39) Y375C probably benign Het
Helq A T 5: 100,946,303 (GRCm39) S13T possibly damaging Het
Helz A G 11: 107,509,918 (GRCm39) T514A probably benign Het
Hook3 A G 8: 26,522,552 (GRCm39) V32A Het
Htra4 A G 8: 25,527,048 (GRCm39) I249T possibly damaging Het
Htt G T 5: 35,062,692 (GRCm39) V2809L probably benign Het
Ifi203 T A 1: 173,765,437 (GRCm39) I46F probably benign Het
Kcna2 A T 3: 107,012,306 (GRCm39) I296F possibly damaging Het
Kndc1 A G 7: 139,501,357 (GRCm39) E882G possibly damaging Het
Krtap16-1 A T 11: 99,876,071 (GRCm39) D444E probably benign Het
Lrrtm3 ATTTT ATTTTT 10: 63,925,035 (GRCm39) probably null Het
Mdga2 C T 12: 66,615,634 (GRCm39) D658N possibly damaging Het
Mkrn1 T C 6: 39,378,183 (GRCm39) K316R possibly damaging Het
Mmd2 C T 5: 142,553,666 (GRCm39) C165Y probably damaging Het
Mpdz A G 4: 81,202,867 (GRCm39) F1843L probably damaging Het
Mrc2 G A 11: 105,220,093 (GRCm39) R338Q probably damaging Het
Naip5 C T 13: 100,364,184 (GRCm39) R372H probably benign Het
Nav2 C A 7: 49,202,599 (GRCm39) S1461Y probably damaging Het
Nol8 T A 13: 49,814,738 (GRCm39) V282D possibly damaging Het
Nup98 C A 7: 101,834,167 (GRCm39) G265V possibly damaging Het
Or1ak2 T C 2: 36,827,911 (GRCm39) F260S probably damaging Het
Or2d3b A G 7: 106,513,980 (GRCm39) T192A possibly damaging Het
Or2h15 C T 17: 38,442,012 (GRCm39) E24K possibly damaging Het
Or4f58 T A 2: 111,851,517 (GRCm39) K227N possibly damaging Het
Or4f62 T A 2: 111,986,473 (GRCm39) M59K possibly damaging Het
Or8k18 G T 2: 86,085,544 (GRCm39) F164L possibly damaging Het
Otogl T A 10: 107,690,205 (GRCm39) E888D probably damaging Het
Pcdhgc4 A G 18: 37,948,685 (GRCm39) I34V possibly damaging Het
Ppp1r12b T C 1: 134,807,376 (GRCm39) R417G probably benign Het
Rtn4 A G 11: 29,656,778 (GRCm39) S311G probably benign Het
Serinc3 A G 2: 163,478,812 (GRCm39) V105A probably benign Het
Serpina3f A G 12: 104,183,444 (GRCm39) D102G possibly damaging Het
Sik3 A G 9: 46,066,772 (GRCm39) I184V probably damaging Het
Spopfm2 A C 3: 94,082,950 (GRCm39) L287R probably damaging Het
Tex35 A T 1: 156,935,436 (GRCm39) C21S probably benign Het
Tfap2b T C 1: 19,282,649 (GRCm39) probably null Het
Thbs4 C T 13: 92,897,998 (GRCm39) C607Y probably damaging Het
Tmem144 A T 3: 79,734,964 (GRCm39) N151K probably benign Het
Tomm70a T A 16: 56,963,166 (GRCm39) M395K probably benign Het
Trim43b A C 9: 88,967,663 (GRCm39) H324Q probably benign Het
Vmn2r116 A T 17: 23,620,141 (GRCm39) Y625F probably damaging Het
Yipf3 A T 17: 46,559,798 (GRCm39) N38I probably damaging Het
Zfp804b T A 5: 6,821,496 (GRCm39) E522D 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
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
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
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'- TTCTCTCCAAGAAGACTCAGCC -3'
(R):5'- ATCACGCTGGACTTGAGAGAG -3'

Sequencing Primer
(F):5'- ATCAGCCTCGCCTTGGTG -3'
(R):5'- TGAGGCCTCTGCAAAGGG -3'
Posted On 2022-02-07