Incidental Mutation 'R2151:Ccn3'
ID 234311
Institutional Source Beutler Lab
Gene Symbol Ccn3
Ensembl Gene ENSMUSG00000037362
Gene Name cellular communication network factor 3
Synonyms C130088N23Rik, CCN3, Nov
MMRRC Submission 040154-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R2151 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 54609306-54617158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54615854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 340 (A340T)
Ref Sequence ENSEMBL: ENSMUSP00000054389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050027]
AlphaFold Q64299
Predicted Effect probably benign
Transcript: ENSMUST00000050027
AA Change: A340T

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: A340T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IB 27 98 8.2e-34 SMART
VWC 104 167 6.08e-18 SMART
low complexity region 172 181 N/A INTRINSIC
TSP1 204 247 5.51e-7 SMART
CT 266 335 1.18e-21 SMART
Meta Mutation Damage Score 0.0664 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (91/91)
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 small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,954,725 (GRCm39) probably null Het
4930579F01Rik A G 3: 137,882,217 (GRCm39) probably null Het
Abhd17c G T 7: 83,800,663 (GRCm39) H130Q probably damaging Het
Actr10 T A 12: 70,987,575 (GRCm39) C27* probably null Het
Als2 G A 1: 59,246,948 (GRCm39) H564Y probably damaging Het
Anxa2r1 C T 13: 120,496,335 (GRCm39) C178Y unknown Het
Art5 A G 7: 101,747,407 (GRCm39) L124P possibly damaging Het
Asap2 A T 12: 21,162,084 (GRCm39) T14S probably damaging Het
Atp2c2 A G 8: 120,482,841 (GRCm39) N901S probably benign Het
Bicd2 G T 13: 49,533,052 (GRCm39) C546F probably damaging Het
Cnbp C T 6: 87,822,281 (GRCm39) G81D probably damaging Het
Dnah5 T C 15: 28,444,237 (GRCm39) Y4012H probably damaging Het
Dok5 G A 2: 170,642,816 (GRCm39) G38D probably damaging Het
Drc3 A T 11: 60,265,983 (GRCm39) E224V probably benign Het
Ehd2 T C 7: 15,686,128 (GRCm39) K315E probably damaging Het
Eif6 A T 2: 155,664,810 (GRCm39) N225K probably benign Het
Epg5 T C 18: 78,070,517 (GRCm39) V2264A probably benign Het
Faf2 T C 13: 54,796,220 (GRCm39) F126L probably damaging Het
Fiz1 T C 7: 5,015,880 (GRCm39) S37G possibly damaging Het
Frs3 T C 17: 48,013,987 (GRCm39) S227P probably benign Het
Garin3 A T 11: 46,296,158 (GRCm39) K177* probably null Het
Gm4787 T A 12: 81,423,993 (GRCm39) I722F probably benign Het
Gm6370 T A 5: 146,430,451 (GRCm39) L212Q probably damaging Het
Gmnc G A 16: 26,779,456 (GRCm39) H142Y possibly damaging Het
Gna15 T C 10: 81,338,738 (GRCm39) Y367C probably damaging Het
Gpr158 G A 2: 21,832,325 (GRCm39) V1142M possibly damaging Het
Gpx6 A G 13: 21,503,141 (GRCm39) K185R probably damaging Het
Hc A C 2: 34,881,115 (GRCm39) probably benign Het
Hdac9 A G 12: 34,440,255 (GRCm39) S375P probably damaging Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Klre1 G A 6: 129,556,996 (GRCm39) E33K possibly damaging Het
Ldhb C A 6: 142,444,396 (GRCm39) V86L possibly damaging Het
Maco1 A G 4: 134,538,534 (GRCm39) V470A probably benign Het
Magi3 T A 3: 103,954,198 (GRCm39) K713I probably damaging Het
Magi3 T C 3: 103,992,554 (GRCm39) Y306C probably damaging Het
Minar1 T G 9: 89,484,221 (GRCm39) K392T possibly damaging Het
Mmp17 T C 5: 129,682,725 (GRCm39) Y455H probably benign Het
Mmp25 T A 17: 23,850,048 (GRCm39) Y504F probably damaging Het
Myo1a T C 10: 127,556,050 (GRCm39) I969T probably benign Het
Nedd4l T A 18: 65,343,401 (GRCm39) H820Q probably damaging Het
Nf1 T A 11: 79,338,396 (GRCm39) M1136K possibly damaging Het
Nmi T C 2: 51,842,555 (GRCm39) E179G probably damaging Het
Nrros A T 16: 31,962,076 (GRCm39) M611K probably benign Het
Nsd1 A T 13: 55,439,049 (GRCm39) N1692I probably damaging Het
Nuak1 T C 10: 84,245,509 (GRCm39) N112S probably benign Het
Odf2l T C 3: 144,854,785 (GRCm39) Y488H possibly damaging Het
Or4c106 C A 2: 88,683,128 (GRCm39) P278H probably damaging Het
Or8g21 T A 9: 38,906,012 (GRCm39) T240S probably damaging Het
Or8g30 T A 9: 39,230,413 (GRCm39) I166F probably damaging Het
Otop2 A G 11: 115,220,237 (GRCm39) D359G possibly damaging Het
Pi4ka A T 16: 17,185,371 (GRCm39) F243Y probably benign Het
Pnma8b T C 7: 16,679,837 (GRCm39) C274R probably benign Het
Ppp1r42 A G 1: 10,073,572 (GRCm39) V6A probably benign Het
Prrg4 A G 2: 104,669,733 (GRCm39) L128S probably damaging Het
Prss33 C T 17: 24,053,817 (GRCm39) V87M probably damaging Het
Psen2 A G 1: 180,061,229 (GRCm39) V278A probably damaging Het
Ptpn13 C A 5: 103,673,651 (GRCm39) T538K probably damaging Het
Pttg1ip2 C T 5: 5,528,875 (GRCm39) V47I possibly damaging Het
Rad51ap2 A G 12: 11,507,986 (GRCm39) H636R probably benign Het
Rbak A C 5: 143,162,257 (GRCm39) D35E possibly damaging Het
Rbms1 C A 2: 60,592,392 (GRCm39) probably null Het
Rgs7bp T A 13: 105,100,597 (GRCm39) N226I probably damaging Het
Rnf182 T A 13: 43,821,899 (GRCm39) V150E probably benign Het
Sacs A G 14: 61,447,089 (GRCm39) Y3045C probably damaging Het
Scp2 G T 4: 107,921,141 (GRCm39) A23E probably benign Het
Sec16a A T 2: 26,303,757 (GRCm39) probably benign Het
Slc30a5 A T 13: 100,940,457 (GRCm39) H619Q probably damaging Het
Slfn10-ps T A 11: 82,926,511 (GRCm39) noncoding transcript Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Slx T A X: 26,489,689 (GRCm39) probably benign Het
Spns3 C A 11: 72,436,787 (GRCm39) probably benign Het
Stxbp1 T A 2: 32,692,868 (GRCm39) I383F probably damaging Het
Taf3 C T 2: 9,956,377 (GRCm39) E597K possibly damaging Het
Tbcd A G 11: 121,494,457 (GRCm39) Q1006R possibly damaging Het
Tenm4 G T 7: 96,552,054 (GRCm39) V2498F probably damaging Het
Tex2 T C 11: 106,458,161 (GRCm39) probably benign Het
Tkfc A T 19: 10,576,421 (GRCm39) L154Q probably damaging Het
Tmem62 A G 2: 120,817,343 (GRCm39) H257R probably damaging Het
Trpm2 T C 10: 77,768,013 (GRCm39) I829V probably benign Het
Ttc38 A G 15: 85,735,802 (GRCm39) probably null Het
Ttn A T 2: 76,548,757 (GRCm39) Y30135* probably null Het
Ttn A G 2: 76,810,477 (GRCm39) V17A probably benign Het
Ubqlnl A T 7: 103,797,890 (GRCm39) C536S probably benign Het
Vmn1r230 T A 17: 21,067,063 (GRCm39) M84K probably damaging Het
Vmn1r235 G A 17: 21,482,628 (GRCm39) V318I probably benign Het
Vmn2r76 T C 7: 85,879,692 (GRCm39) I203V probably benign Het
Vmn2r97 A T 17: 19,167,584 (GRCm39) R613* probably null Het
Zfp180 A G 7: 23,804,685 (GRCm39) H368R probably damaging Het
Zfp407 T C 18: 84,227,774 (GRCm39) D1945G possibly damaging Het
Zfyve27 G T 19: 42,160,170 (GRCm39) R62L probably benign Het
Other mutations in Ccn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Ccn3 APN 15 54,612,656 (GRCm39) missense probably damaging 1.00
IGL01480:Ccn3 APN 15 54,615,687 (GRCm39) missense probably damaging 1.00
IGL01727:Ccn3 APN 15 54,609,634 (GRCm39) missense probably benign 0.17
IGL02027:Ccn3 APN 15 54,611,330 (GRCm39) missense probably damaging 0.98
IGL02690:Ccn3 APN 15 54,611,198 (GRCm39) missense probably damaging 1.00
IGL03089:Ccn3 APN 15 54,612,680 (GRCm39) missense possibly damaging 0.72
IGL03229:Ccn3 APN 15 54,612,704 (GRCm39) missense probably benign 0.19
R0556:Ccn3 UTSW 15 54,612,563 (GRCm39) missense probably damaging 1.00
R1162:Ccn3 UTSW 15 54,611,178 (GRCm39) nonsense probably null
R1321:Ccn3 UTSW 15 54,612,642 (GRCm39) missense probably damaging 1.00
R1572:Ccn3 UTSW 15 54,612,648 (GRCm39) missense possibly damaging 0.89
R1994:Ccn3 UTSW 15 54,612,750 (GRCm39) missense probably benign
R4785:Ccn3 UTSW 15 54,615,603 (GRCm39) critical splice acceptor site probably null
R5165:Ccn3 UTSW 15 54,612,585 (GRCm39) missense probably damaging 1.00
R5577:Ccn3 UTSW 15 54,615,897 (GRCm39) missense possibly damaging 0.54
R6131:Ccn3 UTSW 15 54,612,756 (GRCm39) missense probably benign 0.28
R6307:Ccn3 UTSW 15 54,611,421 (GRCm39) critical splice donor site probably null
R6472:Ccn3 UTSW 15 54,612,668 (GRCm39) missense possibly damaging 0.95
R6557:Ccn3 UTSW 15 54,611,323 (GRCm39) nonsense probably null
R7000:Ccn3 UTSW 15 54,615,743 (GRCm39) missense probably damaging 1.00
R7029:Ccn3 UTSW 15 54,611,171 (GRCm39) missense possibly damaging 0.89
R7957:Ccn3 UTSW 15 54,609,734 (GRCm39) missense possibly damaging 0.93
R9030:Ccn3 UTSW 15 54,615,687 (GRCm39) missense probably damaging 1.00
X0063:Ccn3 UTSW 15 54,609,717 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GTGTCTCCGCACCAAGAAATCC -3'
(R):5'- ATGGCCTCATATGATCACAGC -3'

Sequencing Primer
(F):5'- CAGTTCGAGAATTGCACTAGC -3'
(R):5'- TATGATCACAGCAACATACGTGG -3'
Posted On 2014-10-01