Incidental Mutation 'R0964:Ccn1'
ID 81456
Institutional Source Beutler Lab
Gene Symbol Ccn1
Ensembl Gene ENSMUSG00000028195
Gene Name cellular communication network factor 1
Synonyms Cyr61, CCN1
MMRRC Submission 039093-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.344) question?
Stock # R0964 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 145352731-145355736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 145353503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 353 (C353F)
Ref Sequence ENSEMBL: ENSMUSP00000029846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029846]
AlphaFold P18406
Predicted Effect probably damaging
Transcript: ENSMUST00000029846
AA Change: C353F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029846
Gene: ENSMUSG00000028195
AA Change: C353F

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
IB 24 93 1.16e-24 SMART
VWC 100 163 9.94e-23 SMART
low complexity region 164 184 N/A INTRINSIC
TSP1 229 271 1.34e-5 SMART
CT 289 358 3.74e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197148
Meta Mutation Damage Score 0.9576 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]
PHENOTYPE: Targeted null mice die pre- or perinatally, and none survive beyond 24 hrs of birth. About 30% of embryos die by E10.5 from defects in chorioallantoic fusion, whereas 70% die from placental vascular defects, including impaired allantoic vessel bifurcation, and loss of large-vessel integrity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Acacb A T 5: 114,367,813 (GRCm39) M1604L possibly damaging Het
Acp3 A G 9: 104,204,174 (GRCm39) V40A possibly damaging Het
Adgrl1 T C 8: 84,661,041 (GRCm39) probably benign Het
Alppl2 C T 1: 87,015,446 (GRCm39) V372I possibly damaging Het
Apol8 C T 15: 77,633,811 (GRCm39) S255N probably benign Het
Atp8b4 A T 2: 126,179,413 (GRCm39) F973I probably damaging Het
Bbs4 A G 9: 59,230,259 (GRCm39) *150Q probably null Het
Bltp3a A T 17: 28,106,152 (GRCm39) T893S probably damaging Het
Cacna1h A T 17: 25,597,749 (GRCm39) probably benign Het
Ccser2 C T 14: 36,630,965 (GRCm39) probably benign Het
Chd9 A G 8: 91,741,832 (GRCm39) E1607G probably benign Het
Clca4b A G 3: 144,621,337 (GRCm39) I579T probably benign Het
Col20a1 T A 2: 180,626,278 (GRCm39) probably benign Het
Creg2 T C 1: 39,664,144 (GRCm39) I205V probably benign Het
Ddx24 C T 12: 103,390,166 (GRCm39) R275H probably damaging Het
Dip2c G A 13: 9,618,699 (GRCm39) A579T probably benign Het
Dnah3 T C 7: 119,551,962 (GRCm39) probably benign Het
Dnah8 G A 17: 30,892,894 (GRCm39) probably null Het
Gckr T C 5: 31,484,259 (GRCm39) probably benign Het
Gpbp1l1 A G 4: 116,438,436 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,281,523 (GRCm39) T1913A probably benign Het
Lmo7 T C 14: 102,158,003 (GRCm39) probably benign Het
Meioc G A 11: 102,570,857 (GRCm39) V863I probably damaging Het
Myh1 A G 11: 67,096,751 (GRCm39) I341V probably benign Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Myh13 A G 11: 67,235,828 (GRCm39) T664A probably benign Het
Myo3b A C 2: 70,257,193 (GRCm39) D1269A probably damaging Het
Nckap1 A G 2: 80,378,243 (GRCm39) probably null Het
Nr3c2 A G 8: 77,635,297 (GRCm39) probably null Het
Nxpe5 T C 5: 138,238,186 (GRCm39) S249P probably damaging Het
Or52z1 C T 7: 103,436,604 (GRCm39) M293I probably benign Het
Or8k16 A G 2: 85,520,709 (GRCm39) N312S probably benign Het
Or9a4 T C 6: 40,549,139 (GRCm39) V273A probably benign Het
Pitpnm3 G A 11: 71,949,296 (GRCm39) T675I probably damaging Het
Plekhm1 C A 11: 103,285,908 (GRCm39) E176* probably null Het
Prdm11 C A 2: 92,819,567 (GRCm39) probably benign Het
Prodh2 C A 7: 30,205,706 (GRCm39) R218S probably damaging Het
Rps15a T C 7: 117,714,060 (GRCm39) D54G probably benign Het
Sbno2 G T 10: 79,920,093 (GRCm39) T46N possibly damaging Het
Sdk2 A G 11: 113,697,243 (GRCm39) probably benign Het
Sema3c T C 5: 17,926,907 (GRCm39) F567L probably damaging Het
Slc36a1 A G 11: 55,116,780 (GRCm39) probably benign Het
Spaca6 A T 17: 18,058,653 (GRCm39) E284V possibly damaging Het
Srsf3 C A 17: 29,255,412 (GRCm39) L66I probably damaging Het
Srsf3 T A 17: 29,255,413 (GRCm39) L66Q probably damaging Het
Syne1 T C 10: 4,993,652 (GRCm39) T8363A possibly damaging Het
Trmt1 T A 8: 85,423,481 (GRCm39) L298Q probably damaging Het
Uba6 T C 5: 86,267,260 (GRCm39) I923V possibly damaging Het
Vmn2r106 G A 17: 20,487,859 (GRCm39) H847Y probably benign Het
Vmn2r15 T C 5: 109,445,401 (GRCm39) T8A probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb41 T G 1: 139,366,769 (GRCm39) F583V probably damaging Het
Zfp938 T A 10: 82,061,253 (GRCm39) I456F probably benign Het
Other mutations in Ccn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Ccn1 APN 3 145,354,365 (GRCm39) missense probably damaging 0.96
IGL02500:Ccn1 APN 3 145,354,455 (GRCm39) missense probably damaging 1.00
IGL02963:Ccn1 APN 3 145,353,630 (GRCm39) missense probably damaging 1.00
IGL03170:Ccn1 APN 3 145,355,514 (GRCm39) missense probably benign 0.01
R0018:Ccn1 UTSW 3 145,355,186 (GRCm39) missense probably damaging 0.99
R0846:Ccn1 UTSW 3 145,353,525 (GRCm39) missense possibly damaging 0.94
R1234:Ccn1 UTSW 3 145,355,594 (GRCm39) start gained probably benign
R1968:Ccn1 UTSW 3 145,353,965 (GRCm39) missense probably damaging 0.99
R1989:Ccn1 UTSW 3 145,353,498 (GRCm39) missense probably benign 0.31
R2071:Ccn1 UTSW 3 145,354,428 (GRCm39) nonsense probably null
R5622:Ccn1 UTSW 3 145,355,075 (GRCm39) missense probably damaging 1.00
R5639:Ccn1 UTSW 3 145,354,452 (GRCm39) missense probably damaging 1.00
R5734:Ccn1 UTSW 3 145,354,023 (GRCm39) missense probably damaging 1.00
R5792:Ccn1 UTSW 3 145,354,413 (GRCm39) missense probably benign
R6129:Ccn1 UTSW 3 145,354,986 (GRCm39) missense possibly damaging 0.85
R6689:Ccn1 UTSW 3 145,353,543 (GRCm39) missense probably benign
R7131:Ccn1 UTSW 3 145,354,536 (GRCm39) missense probably damaging 1.00
R7289:Ccn1 UTSW 3 145,354,428 (GRCm39) nonsense probably null
R7699:Ccn1 UTSW 3 145,354,447 (GRCm39) missense probably damaging 1.00
R7700:Ccn1 UTSW 3 145,354,447 (GRCm39) missense probably damaging 1.00
R8722:Ccn1 UTSW 3 145,354,584 (GRCm39) missense probably damaging 1.00
R8859:Ccn1 UTSW 3 145,354,380 (GRCm39) missense probably benign
R9651:Ccn1 UTSW 3 145,354,583 (GRCm39) missense probably damaging 1.00
Z1177:Ccn1 UTSW 3 145,354,410 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCTACTCAAGAATGAGCAAGGCAC -3'
(R):5'- TCTTCCAGAAGGGCAAGAAATGCAG -3'

Sequencing Primer
(F):5'- TGAGCAAGGCACCATTCATC -3'
(R):5'- CCAGTCAGATTTACTTATGCAGG -3'
Posted On 2013-11-07