Incidental Mutation 'IGL02166:Ovol2'
ID 282703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ovol2
Ensembl Gene ENSMUSG00000037279
Gene Name ovo like zinc finger 2
Synonyms Ovol2, movo2, Zfp339, 1810007D21Rik, M-OVO-B, M-OVO-A, M-OVO
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02166
Quality Score
Status
Chromosome 2
Chromosomal Location 144147095-144174000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144147650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 200 (N200S)
Ref Sequence ENSEMBL: ENSMUSP00000099460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037423] [ENSMUST00000103171]
AlphaFold Q8CIV7
Predicted Effect probably benign
Transcript: ENSMUST00000037423
AA Change: N233S

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000044026
Gene: ENSMUSG00000037279
AA Change: N233S

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 possibly damaging
Transcript: ENSMUST00000103171
AA Change: N200S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099460
Gene: ENSMUSG00000037279
AA Change: N200S

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aopep A G 13: 63,163,267 (GRCm39) H96R probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cdh8 T C 8: 99,917,083 (GRCm39) D344G probably damaging Het
Ciao3 A G 17: 25,999,294 (GRCm39) D236G possibly damaging Het
Cltc T C 11: 86,594,914 (GRCm39) I1399V probably benign Het
Col4a1 A T 8: 11,294,509 (GRCm39) probably benign Het
Crtc3 C T 7: 80,327,147 (GRCm39) G60R probably damaging Het
Dscaml1 G A 9: 45,594,999 (GRCm39) V701M probably damaging Het
Eif3b T A 5: 140,425,705 (GRCm39) C632S possibly damaging Het
Ephb3 G A 16: 21,039,499 (GRCm39) R417Q probably damaging Het
Fpr3 T C 17: 18,190,726 (GRCm39) probably benign Het
Hpdl A G 4: 116,678,149 (GRCm39) V104A probably damaging Het
Ighv1-55 T C 12: 115,171,840 (GRCm39) S76G probably benign Het
Ikbip T C 10: 90,931,652 (GRCm39) S99P probably damaging Het
Lnpk T C 2: 74,360,061 (GRCm39) E318G probably damaging Het
Lrrc66 G A 5: 73,764,634 (GRCm39) T803M probably damaging Het
Nxf2 C A X: 133,857,878 (GRCm39) W89L possibly damaging Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or5d46 A T 2: 88,170,022 (GRCm39) I38F probably damaging Het
Or6c3b T A 10: 129,527,782 (GRCm39) I43F probably benign Het
Osbp2 A T 11: 3,667,983 (GRCm39) C5S probably damaging Het
Ppp4r1 A G 17: 66,120,487 (GRCm39) D207G probably benign Het
Prdm11 C T 2: 92,843,208 (GRCm39) V84M probably damaging Het
Rspo3 T A 10: 29,411,275 (GRCm39) E17V possibly damaging Het
Scarf2 A G 16: 17,621,620 (GRCm39) N357D probably damaging Het
Scn9a A T 2: 66,323,447 (GRCm39) D1447E possibly damaging Het
Sdad1 G A 5: 92,439,621 (GRCm39) T433I probably benign Het
Seh1l A G 18: 67,918,093 (GRCm39) N149S probably damaging Het
Sigirr T C 7: 140,672,140 (GRCm39) I268M probably benign Het
Slc35d2 A G 13: 64,246,162 (GRCm39) F282S probably damaging Het
Slc4a1 A T 11: 102,245,159 (GRCm39) M596K probably damaging Het
Spta1 G A 1: 174,017,797 (GRCm39) E494K probably damaging Het
Stk32b C A 5: 37,656,374 (GRCm39) probably benign Het
Tex13b T C X: 139,713,475 (GRCm39) E122G probably damaging Het
Tmem35a A G X: 133,205,357 (GRCm39) N91S probably damaging Het
Tmem67 A G 4: 12,047,313 (GRCm39) V841A possibly damaging Het
Trdv2-1 A G 14: 54,184,068 (GRCm39) D100G probably benign Het
Tshz3 T C 7: 36,468,346 (GRCm39) S112P probably benign Het
Tssc4 T C 7: 142,623,938 (GRCm39) M82T probably benign Het
Ttn A G 2: 76,562,723 (GRCm39) S28744P probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vim T C 2: 13,579,405 (GRCm39) S55P probably damaging Het
Zmat5 T A 11: 4,687,363 (GRCm39) Y139N possibly damaging Het
Zswim2 G A 2: 83,745,750 (GRCm39) Q563* probably null Het
Other mutations in Ovol2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Ovol2 APN 2 144,147,599 (GRCm39) missense probably damaging 1.00
boh UTSW 2 144,159,780 (GRCm39) missense probably damaging 1.00
R0084:Ovol2 UTSW 2 144,147,808 (GRCm39) missense probably damaging 0.98
R0760:Ovol2 UTSW 2 144,173,679 (GRCm39) critical splice donor site probably null
R0883:Ovol2 UTSW 2 144,173,710 (GRCm39) missense probably damaging 0.99
R1672:Ovol2 UTSW 2 144,147,710 (GRCm39) missense probably damaging 1.00
R3410:Ovol2 UTSW 2 144,159,796 (GRCm39) missense probably benign 0.00
R4780:Ovol2 UTSW 2 144,173,203 (GRCm39) intron probably benign
R5127:Ovol2 UTSW 2 144,159,780 (GRCm39) missense probably damaging 1.00
R7432:Ovol2 UTSW 2 144,159,792 (GRCm39) missense probably benign
R8962:Ovol2 UTSW 2 144,147,834 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16