Nr2f2 - SNV Details



 Gene Information 
Gene Name Nr2f2
Old Gene Names for Nr2f2 9430015g03rik , Aporp1 , Tcfcoup2
Gene Description nuclear receptor subfamily 2, group F, member 2 [Source:MGI Symbol;Acc:MGI:1352452]
MGI phenotype Homozygotes for a targeted null mutation exhibit impaired angiogenesis and heart development with hemorrhagic brains and hearts, and die around embryonic day 10. About 5% of heterozygotes share the hemorrhagic phenotype at embryonic day 9.5.
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; negative regulation of endothelial cell proliferation; blood vessel morphogenesis; ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity; negative regulation of endothelial cell migration; anterior/posterior pattern specification; fertilization; limb development; lymph vessel development; regulation of transcription involved in lymphatic endothelial cell fate commitment; zinc ion binding; DNA binding; sequence-specific DNA binding transcription factor activity; steroid hormone receptor activity; protein homodimerization activity; regulation of transcription from RNA polymerase II promoter; negative regulation of cyclin-dependent protein kinase activity; protein binding; neuron migration; nucleus; in utero embryonic development; response to estradiol stimulus; positive regulation of transcription
DNA-dependent; trophoblast giant cell differentiation; skeletal muscle tissue development; regulation of transcription
DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; placenta blood vessel development; maternal placenta development; forebrain development; intracellular receptor mediated signaling pathway; steroid hormone mediated signaling pathway; radial pattern formation; retinoic acid binding
Homolog in other species NR2F2
Omim http://omim.org/entry/107773
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
HIGH
HIGH(LOWER IN PANCREAS, IMM.G3, SPLEEN)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030551
Chromosome 7
Coordinate 70,354,698     (Assembly: GRCm38)    
Ref Base A
Codon Change Tcc/Ccc
Var Base G
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Position 402
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01736
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved