Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Ovol2'

682371

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

068796-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144147095-144174000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 144147834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 172 (R172G)

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: R172G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044026
Gene: ENSMUSG00000037279
AA Change: R172G

Domain	Start	End	E-Value	Type
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: R139G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099460
Gene: ENSMUSG00000037279
AA Change: R139G

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,220,173 (GRCm39)	M120L	probably benign	Het
Abat	A	G	16: 8,396,166 (GRCm39)	T48A	probably damaging	Het
Abca8a	A	T	11: 109,969,634 (GRCm39)	I314N	probably damaging	Het
Abr	A	T	11: 76,352,155 (GRCm39)	V108D	probably damaging	Het
Adamts17	T	G	7: 66,725,057 (GRCm39)	L162V	probably damaging	Het
Adamts6	A	T	13: 104,433,899 (GRCm39)	K109N	probably damaging	Het
Ago3	A	G	4: 126,241,595 (GRCm39)	F68S	probably damaging	Het
Aifm3	T	C	16: 17,324,200 (GRCm39)		probably null	Het
Ankrd26	T	C	6: 118,512,104 (GRCm39)	E506G	probably benign	Het
Apaf1	A	G	10: 90,903,066 (GRCm39)	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,355,896 (GRCm39)	T1272K	probably benign	Het
Cars2	A	G	8: 11,587,304 (GRCm39)	V193A	probably benign	Het
Ccn5	C	T	2: 163,667,160 (GRCm39)	R54*	probably null	Het
Ccr8	A	T	9: 119,923,613 (GRCm39)	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,538,901 (GRCm39)	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,416,616 (GRCm39)	N127S	probably benign	Het
Ddx10	A	G	9: 53,149,377 (GRCm39)	S117P	probably damaging	Het
Dgkb	T	C	12: 38,189,494 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,916,273 (GRCm39)	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,918,630 (GRCm39)	D1530N	probably damaging	Het
Dock5	T	C	14: 67,994,640 (GRCm39)	T1807A	probably benign	Het
Drd3	C	T	16: 43,641,842 (GRCm39)	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,542,316 (GRCm39)	N941S	probably damaging	Het
Enpp3	T	C	10: 24,696,513 (GRCm39)	T141A	probably benign	Het
Esyt1	A	T	10: 128,356,566 (GRCm39)	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,305,682 (GRCm39)	V143D	probably damaging	Het
Fam170b	A	G	14: 32,557,336 (GRCm39)	D57G	probably benign	Het
Fam53c	T	C	18: 34,901,229 (GRCm39)	S49P	probably damaging	Het
Fbp1	G	A	13: 63,023,067 (GRCm39)	L77F	probably benign	Het
Gm17093	A	G	14: 44,758,149 (GRCm39)	E110G		Het
Gm21976	G	T	13: 98,423,821 (GRCm39)		silent	Het
Golgb1	T	C	16: 36,733,978 (GRCm39)	I1075T	probably damaging	Het
Grip2	T	C	6: 91,754,391 (GRCm39)	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,601,929 (GRCm39)	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,330,204 (GRCm39)	F97Y	probably benign	Het
Itga8	T	C	2: 12,196,045 (GRCm39)	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,127,037 (GRCm39)	L466S	probably damaging	Het
Klc2	T	C	19: 5,161,864 (GRCm39)	D277G	probably benign	Het
Ktn1	A	G	14: 47,901,248 (GRCm39)	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,000,669 (GRCm39)	Y68N	probably damaging	Het
Marchf10	G	T	11: 105,280,815 (GRCm39)	S490*	probably null	Het
Mterf1b	A	T	5: 4,246,437 (GRCm39)	Y26F	probably benign	Het
Myo18b	T	A	5: 113,006,346 (GRCm39)	I855F	probably benign	Het
Nek4	G	A	14: 30,675,915 (GRCm39)	M83I	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	T	C	5: 118,017,405 (GRCm39)	V256A	probably benign	Het
Nr1h2	T	C	7: 44,201,463 (GRCm39)	T50A	probably benign	Het
Or14c42-ps1	T	A	7: 86,211,317 (GRCm39)	*126K	probably null	Het
Or4n4	A	C	14: 50,518,816 (GRCm39)	M298R	possibly damaging	Het
Parp14	A	G	16: 35,677,187 (GRCm39)	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,848,879 (GRCm39)	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,400,291 (GRCm39)	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,461,680 (GRCm39)	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,231,007 (GRCm39)	D746V	probably damaging	Het
Rnf214	A	C	9: 45,809,728 (GRCm39)		probably null	Het
Rtn4ip1	A	T	10: 43,822,415 (GRCm39)		probably null	Het
S1pr1	T	C	3: 115,505,569 (GRCm39)	R342G		Het
Serpina1f	T	C	12: 103,656,131 (GRCm39)	S366G	probably benign	Het
Sestd1	A	T	2: 77,042,708 (GRCm39)	M282K	probably benign	Het
Siglecf	T	G	7: 43,001,140 (GRCm39)	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,886,869 (GRCm39)	V410A	probably damaging	Het
Slc38a4	C	A	15: 96,917,684 (GRCm39)	D14Y	probably benign	Het
Slk	C	T	19: 47,610,748 (GRCm39)	T806M	probably damaging	Het
Slurp2	C	A	15: 74,615,249 (GRCm39)	V48F	possibly damaging	Het
Socs1	A	G	16: 10,602,642 (GRCm39)	S32P	possibly damaging	Het
Son	T	C	16: 91,455,057 (GRCm39)	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,274,880 (GRCm39)		probably benign	Het
Speer4a2	T	G	5: 26,290,745 (GRCm39)	E142A	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tet2	T	C	3: 133,193,804 (GRCm39)	N210S	probably benign	Het
Tkfc	T	C	19: 10,570,700 (GRCm39)	D492G	probably damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Trmt9b	A	G	8: 36,972,729 (GRCm39)	K60E	probably damaging	Het
Tshz2	C	A	2: 169,726,524 (GRCm39)	F373L	probably damaging	Het
Ttc29	T	A	8: 79,042,336 (GRCm39)	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,439,659 (GRCm39)	M1I	probably null	Het
Vmn1r62	T	A	7: 5,678,601 (GRCm39)	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,703,186 (GRCm39)	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,398,564 (GRCm39)	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,463,576 (GRCm39)	D419E	probably damaging	Het
Vps39	A	T	2: 120,174,687 (GRCm39)	Y98*	probably null	Het
Zdbf2	G	A	1: 63,347,162 (GRCm39)	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,287,239 (GRCm39)	E407G	probably benign	Het
Zfp407	A	G	18: 84,577,057 (GRCm39)	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,578,786 (GRCm39)	K619E	possibly damaging	Het
Zfp811	A	T	17: 33,017,622 (GRCm39)	N139K	probably benign	Het

Other mutations in Ovol2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CTTGTTCTGCATAAGGGCCG -3'
(R):5'- CCCACATGTGTTAGGTTTGTTCAG -3'

Sequencing Primer
(F):5'- GTCACTGTTCACATGCAGATACAGG -3'
(R):5'- TTGTTCAGCTGGCTGCC -3'

Posted On

2021-08-31