Incidental Mutation 'IGL03170:Cyr61'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyr61
Ensembl Gene ENSMUSG00000028195
Gene Namecysteine rich protein 61
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.580) question?
Stock #IGL03170
Quality Score
Chromosomal Location145646976-145649981 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 145649759 bp
Amino Acid Change Alanine to Serine at position 12 (A12S)
Ref Sequence ENSEMBL: ENSMUSP00000029846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029846]
Predicted Effect probably benign
Transcript: ENSMUST00000029846
AA Change: A12S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000029846
Gene: ENSMUSG00000028195
AA Change: A12S

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik C T 1: 105,735,955 T943I probably damaging Het
Cand2 A G 6: 115,797,900 D1023G probably damaging Het
Cyp2c54 A G 19: 40,072,365 probably null Het
Cyp4f37 C T 17: 32,625,119 probably benign Het
Entpd2 T C 2: 25,399,481 F325S probably damaging Het
Flnb T C 14: 7,818,261 I37T possibly damaging Het
Gm7030 C T 17: 36,128,713 G125E probably damaging Het
Gm7534 C T 4: 134,193,034 V607I possibly damaging Het
Gtpbp10 A G 5: 5,555,355 V116A probably benign Het
Lrp1b T A 2: 40,697,444 N164I unknown Het
Nle1 T A 11: 82,904,270 T312S probably benign Het
Olfr509 T C 7: 108,646,100 I159V probably benign Het
Pim1 T A 17: 29,491,178 L12Q possibly damaging Het
Plb1 G T 5: 32,284,902 C246F probably damaging Het
Ppp4r4 T C 12: 103,590,774 probably benign Het
Prl6a1 T A 13: 27,315,423 V63D possibly damaging Het
Ptprz1 G A 6: 22,959,767 A88T probably benign Het
Ranbp3l A T 15: 9,000,787 E31V probably damaging Het
Rgs9 G A 11: 109,259,855 T209I probably benign Het
Smg8 A G 11: 87,086,608 V49A probably damaging Het
Smim6 A T 11: 115,913,488 T34S possibly damaging Het
Snw1 T G 12: 87,472,252 T4P probably benign Het
Sod2 C A 17: 13,008,370 H70Q probably benign Het
Tro A G X: 150,655,560 S34P probably benign Het
Tshr T A 12: 91,537,869 M527K probably damaging Het
Uggt1 A C 1: 36,163,261 V1085G probably damaging Het
Vmn1r21 A G 6: 57,843,862 V199A probably damaging Het
Xkr9 T C 1: 13,700,812 I184T possibly damaging Het
Zfp369 T C 13: 65,294,410 S273P probably damaging Het
Other mutations in Cyr61
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Cyr61 APN 3 145648610 missense probably damaging 0.96
IGL02500:Cyr61 APN 3 145648700 missense probably damaging 1.00
IGL02963:Cyr61 APN 3 145647875 missense probably damaging 1.00
R0018:Cyr61 UTSW 3 145649431 missense probably damaging 0.99
R0846:Cyr61 UTSW 3 145647770 missense possibly damaging 0.94
R0964:Cyr61 UTSW 3 145647748 missense probably damaging 1.00
R1234:Cyr61 UTSW 3 145649839 start gained probably benign
R1968:Cyr61 UTSW 3 145648210 missense probably damaging 0.99
R1989:Cyr61 UTSW 3 145647743 missense probably benign 0.31
R2071:Cyr61 UTSW 3 145648673 nonsense probably null
R5622:Cyr61 UTSW 3 145649320 missense probably damaging 1.00
R5639:Cyr61 UTSW 3 145648697 missense probably damaging 1.00
R5734:Cyr61 UTSW 3 145648268 missense probably damaging 1.00
R5792:Cyr61 UTSW 3 145648658 missense probably benign
R6129:Cyr61 UTSW 3 145649231 missense possibly damaging 0.85
R6689:Cyr61 UTSW 3 145647788 missense probably benign
R7131:Cyr61 UTSW 3 145648781 missense probably damaging 1.00
R7289:Cyr61 UTSW 3 145648673 nonsense probably null
R7699:Cyr61 UTSW 3 145648692 missense probably damaging 1.00
R7700:Cyr61 UTSW 3 145648692 missense probably damaging 1.00
Z1177:Cyr61 UTSW 3 145648655 missense probably benign 0.00
Posted On2016-08-02