Incidental Mutation 'R2095:Ccn2'
ID 232057
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 040099-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2095 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 24471340-24474581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24472377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 140 (V140A)
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: V140A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: V140A

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
AA Change: V140A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: V140A

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 0.0850 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (58/60)
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
9530002B09Rik C A 4: 122,596,151 (GRCm39) Y127* probably null Het
Adam33 C T 2: 130,895,629 (GRCm39) G562D probably damaging Het
Adh1 T C 3: 137,988,557 (GRCm39) F177L probably damaging Het
Arhgef17 T C 7: 100,530,470 (GRCm39) T1439A probably damaging Het
Arl5c C T 11: 97,884,277 (GRCm39) E105K probably damaging Het
Armc3 T A 2: 19,293,740 (GRCm39) D510E possibly damaging Het
Bbx T C 16: 50,045,052 (GRCm39) E395G possibly damaging Het
Cacna2d2 G A 9: 107,404,364 (GRCm39) E1087K probably benign Het
Casq1 T C 1: 172,043,529 (GRCm39) N113S probably benign Het
Cbfa2t3 A G 8: 123,361,727 (GRCm39) S432P probably benign Het
Cd163 A G 6: 124,294,781 (GRCm39) D615G probably damaging Het
Chrnb2 A T 3: 89,668,744 (GRCm39) D190E probably benign Het
Clec9a T C 6: 129,393,321 (GRCm39) L115P possibly damaging Het
Cluh C T 11: 74,552,550 (GRCm39) R532* probably null Het
Cntnap5a T A 1: 116,369,990 (GRCm39) L869Q probably damaging Het
Cyp3a57 A T 5: 145,305,944 (GRCm39) K143* probably null Het
Dcaf12 G T 4: 41,294,085 (GRCm39) H351N probably benign Het
Dtna T A 18: 23,702,805 (GRCm39) L112Q probably damaging Het
Fnta G A 8: 26,489,907 (GRCm39) Q303* probably null Het
Frs2 T C 10: 116,910,507 (GRCm39) E285G probably benign Het
Gabra4 T C 5: 71,781,455 (GRCm39) I293V probably damaging Het
Gm2431 A T 7: 141,811,518 (GRCm39) C129S unknown Het
Gnl2 C T 4: 124,928,111 (GRCm39) R49C probably damaging Het
Helz T A 11: 107,536,972 (GRCm39) Y275N probably damaging Het
Hydin A G 8: 111,189,289 (GRCm39) E1231G probably damaging Het
Kctd11 T A 11: 69,770,402 (GRCm39) D212V probably damaging Het
Klf3 T A 5: 64,979,245 (GRCm39) M29K probably benign Het
Klhl21 T C 4: 152,093,850 (GRCm39) S151P probably benign Het
Lsm14b A T 2: 179,673,580 (GRCm39) probably benign Het
Mlxipl T C 5: 135,150,974 (GRCm39) probably benign Het
Mov10 G A 3: 104,708,847 (GRCm39) R389C probably damaging Het
Msh6 A G 17: 88,295,661 (GRCm39) M1071V possibly damaging Het
Myh8 G T 11: 67,177,050 (GRCm39) A401S probably benign Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Obscn A T 11: 58,984,410 (GRCm39) probably null Het
Or1e22 T A 11: 73,377,420 (GRCm39) T77S probably damaging Het
Or2l13 T C 16: 19,305,681 (GRCm39) I31T probably benign Het
Or4c11c T C 2: 88,661,634 (GRCm39) Y58H probably damaging Het
Or8g50 T A 9: 39,648,557 (GRCm39) Y149N probably damaging Het
Pcdhb17 T A 18: 37,619,375 (GRCm39) D388E probably benign Het
Pgm3 T C 9: 86,438,394 (GRCm39) T423A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
S1pr5 T A 9: 21,156,154 (GRCm39) T91S probably benign Het
Sgcz T C 8: 38,007,546 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,871,376 (GRCm39) L79P probably damaging Het
Slco2a1 A G 9: 102,954,167 (GRCm39) T383A probably benign Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Spta1 T A 1: 174,071,764 (GRCm39) M2248K possibly damaging Het
Stub1 A G 17: 26,049,864 (GRCm39) Y304H probably damaging Het
Taar7e T A 10: 23,913,949 (GRCm39) Y146* probably null Het
Tbc1d1 C T 5: 64,473,844 (GRCm39) S660L probably benign Het
Tcea2 C A 2: 181,328,725 (GRCm39) F259L probably damaging Het
Tcp11l1 T A 2: 104,512,185 (GRCm39) K482N probably damaging Het
Trpv6 C T 6: 41,598,690 (GRCm39) R645Q probably damaging Het
Uaca T A 9: 60,748,125 (GRCm39) S30T probably benign Het
Ubap2 C G 4: 41,206,901 (GRCm39) V492L possibly damaging Het
Ube3c T C 5: 29,873,038 (GRCm39) F1026S probably damaging Het
Vmn2r8 T G 5: 108,956,487 (GRCm39) D45A possibly damaging Het
Zfp738 G T 13: 67,819,422 (GRCm39) L180I 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
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'- ACGCCTGACCTACAACTTTG -3'
(R):5'- AATGTGTCTTCCAGTCGGTAGG -3'

Sequencing Primer
(F):5'- GCCTGACCTACAACTTTGTCTTC -3'
(R):5'- GACAATTTCCCCTTAATTTGGTGGAC -3'
Posted On 2014-09-18