Incidental Mutation 'R0084:Ovol2'
ID 19794
Institutional Source Beutler Lab
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
MMRRC Submission 038371-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0084 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 144147095-144174000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 144147808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 180 (N180K)
Ref Sequence ENSEMBL: ENSMUSP00000044026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037423] [ENSMUST00000103171]
AlphaFold Q8CIV7
Predicted Effect probably damaging
Transcript: ENSMUST00000037423
AA Change: N180K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044026
Gene: ENSMUSG00000037279
AA Change: N180K

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: N147K

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099460
Gene: ENSMUSG00000037279
AA Change: N147K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.5%
  • 20x: 86.0%
Validation Efficiency 99% (77/78)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,927,423 (GRCm39) probably benign Het
Abcc9 A G 6: 142,604,277 (GRCm39) Y653H probably damaging Het
Acp3 A T 9: 104,191,564 (GRCm39) S241T probably benign Het
Acvr1 A G 2: 58,348,895 (GRCm39) probably null Het
Adgb T C 10: 10,272,088 (GRCm39) N832S possibly damaging Het
AI182371 A G 2: 34,975,714 (GRCm39) probably null Het
Anapc1 G A 2: 128,465,886 (GRCm39) probably benign Het
Apba1 T C 19: 23,889,861 (GRCm39) S420P possibly damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bpifb2 A T 2: 153,733,011 (GRCm39) M365L probably benign Het
Btnl9 A T 11: 49,069,606 (GRCm39) N224K possibly damaging Het
Cntn1 A T 15: 92,215,798 (GRCm39) I944L probably benign Het
Cpa3 T C 3: 20,296,265 (GRCm39) probably benign Het
Dcaf11 C T 14: 55,806,700 (GRCm39) R468C probably benign Het
E4f1 T C 17: 24,663,056 (GRCm39) T750A possibly damaging Het
Ercc5 A G 1: 44,215,136 (GRCm39) K890E possibly damaging Het
Fbrsl1 A G 5: 110,527,381 (GRCm39) L262P probably damaging Het
Flnb A G 14: 7,935,979 (GRCm38) D2273G probably benign Het
Gm9848 A T 13: 113,244,776 (GRCm39) noncoding transcript Het
Hcrtr1 T A 4: 130,031,059 (GRCm39) H75L possibly damaging Het
Heatr9 A T 11: 83,403,721 (GRCm39) probably benign Het
Htatip2 G A 7: 49,409,420 (GRCm39) G58D probably damaging Het
Jkampl A T 6: 73,445,918 (GRCm39) Y210* probably null Het
Lmntd1 G A 6: 145,350,254 (GRCm39) H234Y unknown Het
Ly6g2 T A 15: 75,089,624 (GRCm39) M44K probably benign Het
Map4k3 T C 17: 80,963,343 (GRCm39) K85E possibly damaging Het
Moxd2 T C 6: 40,856,342 (GRCm39) D510G probably null Het
Mpv17l2 A T 8: 71,217,190 (GRCm39) probably benign Het
Nbeal2 A G 9: 110,472,778 (GRCm39) probably null Het
Ncapd3 A G 9: 26,967,407 (GRCm39) D581G probably damaging Het
Ndufb5 T C 3: 32,791,352 (GRCm39) V33A probably benign Het
Or10a49 A T 7: 108,468,007 (GRCm39) M118K probably damaging Het
Osbpl1a T C 18: 12,890,669 (GRCm39) T524A probably benign Het
Otogl A C 10: 107,737,202 (GRCm39) S71A probably damaging Het
Pam A G 1: 97,823,774 (GRCm39) V219A probably benign Het
Paox C T 7: 139,712,359 (GRCm39) R197* probably null Het
Pax2 T A 19: 44,806,874 (GRCm39) Y290N probably damaging Het
Pik3ca T C 3: 32,516,937 (GRCm39) M933T possibly damaging Het
Ppfia4 G T 1: 134,227,164 (GRCm39) R1124S possibly damaging Het
Prkch T C 12: 73,744,761 (GRCm39) F258S possibly damaging Het
Rhob G A 12: 8,549,107 (GRCm39) R176C probably benign Het
Sbf2 A T 7: 110,041,573 (GRCm39) I326N possibly damaging Het
Scgb2b2 A T 7: 31,003,041 (GRCm39) E45D probably benign Het
Scube3 T A 17: 28,381,935 (GRCm39) D320E probably benign Het
Serpina1f A G 12: 103,659,847 (GRCm39) V145A possibly damaging Het
Slc28a2b A G 2: 122,353,314 (GRCm39) Y498C possibly damaging Het
Slc6a5 A C 7: 49,579,761 (GRCm39) I380L probably benign Het
Spag16 A G 1: 70,035,998 (GRCm39) N342S probably benign Het
Spata16 A G 3: 26,721,559 (GRCm39) T27A possibly damaging Het
Spock3 A C 8: 63,596,963 (GRCm39) K89T probably damaging Het
Tbc1d1 T C 5: 64,481,797 (GRCm39) V795A probably damaging Het
Tirap G T 9: 35,100,458 (GRCm39) H75Q probably benign Het
Tpk1 C A 6: 43,323,763 (GRCm39) V229L possibly damaging Het
Tshz2 A G 2: 169,726,286 (GRCm39) H294R probably damaging Het
Ttn A T 2: 76,703,043 (GRCm39) probably benign Het
Unc13d C T 11: 115,954,657 (GRCm39) V984M probably damaging Het
Zbtb43 A T 2: 33,343,996 (GRCm39) Y373N probably damaging Het
Zfp646 T A 7: 127,480,476 (GRCm39) H884Q possibly damaging Het
Other mutations in Ovol2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Ovol2 APN 2 144,147,599 (GRCm39) missense probably damaging 1.00
IGL02166:Ovol2 APN 2 144,147,650 (GRCm39) missense possibly damaging 0.95
boh UTSW 2 144,159,780 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TTTGAGAAATGTGCTCCCTGGATGG -3'
(R):5'- GACCTGGCTGATAAAAGACGAGACC -3'

Sequencing Primer
(F):5'- GGTCACTGTTCACATGCAGATAC -3'
(R):5'- TCTCTCCCAGAGCCAAGTG -3'
Posted On 2013-04-11