Incidental Mutation 'IGL00964:Ovol2'
ID26979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ovol2
Ensembl Gene ENSMUSG00000037279
Gene Nameovo like zinc finger 2
SynonymsM-OVO, movo2, M-OVO-A, M-OVO-B, Ovol2, Zfp339
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00964
Quality Score
Status
Chromosome2
Chromosomal Location144305175-144332146 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 144305679 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 217 (A217V)
Ref Sequence ENSEMBL: ENSMUSP00000099460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037423] [ENSMUST00000103171]
Predicted Effect probably damaging
Transcript: ENSMUST00000037423
AA Change: A250V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044026
Gene: ENSMUSG00000037279
AA Change: A250V

DomainStartEndE-ValueType
low complexity region 46 74 N/A INTRINSIC
ZnF_C2H2 118 140 3.34e-2 SMART
ZnF_C2H2 146 168 2.09e-3 SMART
ZnF_C2H2 174 197 2.27e-4 SMART
ZnF_C2H2 213 236 6.67e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103171
AA Change: A217V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099460
Gene: ENSMUSG00000037279
AA Change: A217V

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
ZnF_C2H2 85 107 3.34e-2 SMART
ZnF_C2H2 113 135 2.09e-3 SMART
ZnF_C2H2 141 164 2.27e-4 SMART
ZnF_C2H2 180 203 6.67e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016]
PHENOTYPE: Embryos homozygous for a null allele are small and die at E9.5-E10.5 with an open neural tube, impaired extraembryonic and embryonic vascularization, abnormal cardiogenesis and placental defects. Homozygotes for another null allele die by E10.5 with brain, neural crest, gut tube and heart anomalies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik T A 7: 44,360,186 *197C probably null Het
4930432K21Rik T C 8: 84,166,714 I170T probably benign Het
Acsl6 A G 11: 54,325,646 Y213C probably damaging Het
Agt T C 8: 124,557,895 probably benign Het
Aifm3 A G 16: 17,500,364 D144G probably damaging Het
Alad T C 4: 62,514,093 I32V probably benign Het
Astn2 T A 4: 66,185,187 M330L unknown Het
AU040320 T A 4: 126,854,406 C1029* probably null Het
Brca2 T A 5: 150,532,310 I172N probably damaging Het
Cdk5rap3 A G 11: 96,909,939 probably null Het
Dusp26 G T 8: 31,094,108 R81L probably benign Het
Dync2h1 T C 9: 7,174,881 probably benign Het
Ehd4 A G 2: 120,127,682 C141R probably benign Het
Ftsj3 G T 11: 106,253,115 A261D probably benign Het
Gm14085 A T 2: 122,517,046 Q229H probably damaging Het
Gm5431 G A 11: 48,889,267 T554I probably damaging Het
Hyls1 A G 9: 35,562,112 probably benign Het
Ifi213 T A 1: 173,593,952 T124S possibly damaging Het
Ints10 T A 8: 68,811,986 I457N probably damaging Het
Klk1b1 T G 7: 43,971,169 S228A possibly damaging Het
Lpar2 T C 8: 69,826,512 S319P probably benign Het
Lsr T C 7: 30,971,996 N104S probably damaging Het
Mybpc1 T A 10: 88,555,742 probably null Het
Nalcn T A 14: 123,295,384 probably benign Het
Pcdh12 T A 18: 38,282,731 Q447L probably benign Het
Pdgfra T C 5: 75,175,065 I453T probably damaging Het
Ptprd C T 4: 75,998,556 W1037* probably null Het
Rabgef1 T C 5: 130,191,022 S109P probably damaging Het
Rev3l T C 10: 39,864,806 I2995T probably benign Het
Slamf6 T A 1: 171,917,780 C25S probably null Het
Sorbs2 A C 8: 45,795,677 N520T probably damaging Het
Spr-ps1 C A 6: 85,155,034 noncoding transcript Het
Stx4a A G 7: 127,842,726 Q92R probably benign Het
Tab2 A C 10: 7,910,073 V638G probably benign Het
Trim41 C A 11: 48,812,363 R79S possibly damaging Het
Ttll5 A G 12: 85,849,283 Y135C possibly damaging Het
Zan T C 5: 137,405,941 probably benign Het
Zdhhc14 T A 17: 5,712,481 L220Q probably damaging Het
Other mutations in Ovol2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Ovol2 APN 2 144305730 missense possibly damaging 0.95
boh UTSW 2 144317860 missense probably damaging 1.00
R0084:Ovol2 UTSW 2 144305888 missense probably damaging 0.98
R0760:Ovol2 UTSW 2 144331759 critical splice donor site probably null
R0883:Ovol2 UTSW 2 144331790 missense probably damaging 0.99
R1672:Ovol2 UTSW 2 144305790 missense probably damaging 1.00
R3410:Ovol2 UTSW 2 144317876 missense probably benign 0.00
R4780:Ovol2 UTSW 2 144331283 intron probably benign
R5127:Ovol2 UTSW 2 144317860 missense probably damaging 1.00
Posted On2013-04-17