Incidental Mutation 'IGL02500: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: 0.528) question?
Stock #IGL02500
Quality Score
Chromosomal Location145646976-145649981 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 145648700 bp
Amino Acid Change Lysine to Arginine at position 152 (K152R)
Ref Sequence ENSEMBL: ENSMUSP00000029846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029846]
Predicted Effect probably damaging
Transcript: ENSMUST00000029846
AA Change: K152R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029846
Gene: ENSMUSG00000028195
AA Change: K152R

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,618,926 I409N possibly damaging Het
Aoc3 T A 11: 101,337,389 L674* probably null Het
Arhgef10 G A 8: 14,961,238 E265K probably damaging Het
Cd53 A G 3: 106,768,826 I75T probably damaging Het
Col26a1 A T 5: 136,754,339 L235* probably null Het
Crem G T 18: 3,273,477 Q60K probably damaging Het
Cyp2j8 T C 4: 96,470,650 D344G probably damaging Het
Dchs1 T C 7: 105,755,806 T2510A probably benign Het
Dnajc4 T C 19: 6,988,088 Q215R possibly damaging Het
Espl1 A G 15: 102,315,800 H1262R probably benign Het
Exoc2 G T 13: 30,911,196 T239K probably damaging Het
Fzd6 A T 15: 39,031,386 S316C probably damaging Het
Htra1 A G 7: 130,984,974 K429R probably benign Het
Il1rapl2 C T X: 138,846,503 T647I possibly damaging Het
Kcnn3 T A 3: 89,661,112 probably benign Het
Kiz G A 2: 146,863,813 V98I probably benign Het
Klk1b24 A T 7: 44,188,324 probably benign Het
Lrrc30 T A 17: 67,631,862 N241I probably damaging Het
Map2k4 A G 11: 65,696,310 V288A probably damaging Het
Mefv T C 16: 3,713,577 H459R probably damaging Het
Mettl21a G T 1: 64,608,054 Q115K probably benign Het
Msra A G 14: 64,285,188 probably benign Het
Myh8 G A 11: 67,305,710 R1752H probably benign Het
Nrp1 T C 8: 128,425,799 F163S possibly damaging Het
Ntng1 T A 3: 110,135,330 Y60F probably damaging Het
Pax6 G T 2: 105,692,770 R317L probably benign Het
Pcdh17 A G 14: 84,533,469 E1129G probably benign Het
Phlpp2 C T 8: 109,913,618 H472Y probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prkce A G 17: 86,168,914 N108D probably benign Het
Prkdc T G 16: 15,714,282 probably null Het
Ptprm T C 17: 66,920,048 Y702C probably damaging Het
Rbbp8nl T C 2: 180,279,329 T421A possibly damaging Het
Retnlg A T 16: 48,872,960 L33F probably benign Het
Slc16a7 T A 10: 125,230,933 Y279F probably damaging Het
Slc8a1 T C 17: 81,388,713 Y964C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sspo C A 6: 48,478,379 C3047* probably null Het
Tmprss11b C T 5: 86,667,323 probably null Het
Txnrd1 T G 10: 82,879,217 W98G probably damaging Het
Ulk1 A T 5: 110,809,134 I66N probably damaging Het
Ush2a A G 1: 188,822,696 Y3557C probably damaging Het
Vmn2r57 T A 7: 41,428,226 H172L probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T A 7: 81,041,726 C1218S probably benign Het
Other mutations in Cyr61
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Cyr61 APN 3 145648610 missense probably damaging 0.96
IGL02963:Cyr61 APN 3 145647875 missense probably damaging 1.00
IGL03170:Cyr61 APN 3 145649759 missense probably benign 0.01
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
Posted On2015-04-16