Mutagenetix > Incidental Mutation

Incidental Mutation 'R7000:Oog2'

544456

Institutional Source

Beutler Lab

Gene Symbol

Oog2

Ensembl Gene

ENSMUSG00000066030

Gene Name

oogenesin 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144190719-144196934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144195327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 269 (Q269L)

Ref Sequence

ENSEMBL: ENSMUSP00000079267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080405] [ENSMUST00000143978]

AlphaFold

Q7TPX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000080405
AA Change: Q269L

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

SMART Domains

Protein: ENSMUSP00000079267
Gene: ENSMUSG00000066030
AA Change: Q269L

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	391	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143978

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,702,823	A525T	probably benign	Het
Abcc6	A	G	7: 46,005,522	I515T	possibly damaging	Het
Abi1	G	A	2: 22,942,041	A420V	probably damaging	Het
Abtb2	A	T	2: 103,712,442	I887F	possibly damaging	Het
Acap3	G	A	4: 155,903,849	G602S	possibly damaging	Het
Auts2	T	A	5: 131,440,218	T754S	probably benign	Het
AW551984	T	C	9: 39,600,789	R12G	probably benign	Het
AW822073	T	C	10: 58,222,992	T647A	possibly damaging	Het
Bcan	G	A	3: 87,988,379	R817*	probably null	Het
Bmp10	A	G	6: 87,434,193	T323A	probably benign	Het
Bpnt1	T	C	1: 185,349,856	L165P	probably damaging	Het
Casz1	G	A	4: 148,929,236	A86T	probably damaging	Het
Cd1d2	T	C	3: 86,987,773	F189L	probably benign	Het
Cep72	A	G	13: 74,058,325	M126T	probably damaging	Het
Cep85l	T	A	10: 53,298,199	T483S	probably damaging	Het
Cfi	C	A	3: 129,872,873	T415K	probably damaging	Het
Chrna7	A	G	7: 63,106,039	L253S	probably damaging	Het
Col4a4	T	C	1: 82,497,330	H596R	unknown	Het
Cyp2j8	A	T	4: 96,447,351	M402K	probably benign	Het
Cyp3a16	T	A	5: 145,463,170		probably null	Het
Dhdh	T	C	7: 45,475,274	K332E	possibly damaging	Het
Dnah11	C	A	12: 118,017,661	C2590F	probably damaging	Het
Dnah17	T	C	11: 118,025,702		probably null	Het
Dtx1	A	G	5: 120,695,083	Y97H	probably damaging	Het
Elf1	A	G	14: 79,570,768	D183G	probably damaging	Het
Esyt3	A	C	9: 99,322,153	L94R	probably damaging	Het
Exoc3	A	G	13: 74,182,166	Y521H	probably benign	Het
F5	C	T	1: 164,179,506	T293M	probably damaging	Het
Fam118b	A	T	9: 35,235,264	H102Q	probably damaging	Het
Flad1	T	C	3: 89,402,242		probably benign	Het
Flrt3	G	A	2: 140,660,884	R275*	probably null	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Fscn1	T	A	5: 142,960,627	V60E	probably damaging	Het
Gm17175	A	T	14: 51,573,961	M1K	probably null	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gprc6a	T	C	10: 51,615,047	S694G	probably benign	Het
Iglon5	A	T	7: 43,476,830		probably null	Het
Iqch	T	C	9: 63,454,610	T874A	probably benign	Het
Lamc2	T	A	1: 153,166,127	H87L	possibly damaging	Het
Ldlrad1	T	A	4: 107,209,580	D37E	probably benign	Het
Lman1l	G	C	9: 57,615,948	Q109E	probably benign	Het
Loxhd1	T	C	18: 77,372,433		probably null	Het
Lxn	T	G	3: 67,462,371	E60D	probably benign	Het
Man2b2	A	G	5: 36,821,869	W276R	probably damaging	Het
Mast1	T	C	8: 84,928,969	Y182C	probably damaging	Het
Mroh8	C	T	2: 157,216,977	R923Q	probably benign	Het
Nov	A	T	15: 54,752,347	T303S	probably damaging	Het
Obscn	A	G	11: 59,136,038	L113P	probably damaging	Het
Ocln	C	T	13: 100,534,962		probably null	Het
Olfr1467	A	G	19: 13,364,623		probably benign	Het
Olfr671	G	A	7: 104,975,131	P285S	probably damaging	Het
Osbpl3	A	G	6: 50,297,157	S826P	probably damaging	Het
Otogl	T	C	10: 107,779,831	N1869S	probably benign	Het
Pamr1	G	A	2: 102,611,623	D186N	probably damaging	Het
Pcdhga8	T	A	18: 37,726,893	I334K	probably benign	Het
Pde7b	A	G	10: 20,443,292	S95P	probably damaging	Het
Pik3cg	A	T	12: 32,192,129	V994E	probably damaging	Het
Pkp1	T	C	1: 135,889,954	M148V	probably benign	Het
Plbd1	T	G	6: 136,612,838	K461Q	probably benign	Het
Pmfbp1	A	G	8: 109,530,589	E594G	possibly damaging	Het
Pold3	A	T	7: 100,106,658	H60Q	probably damaging	Het
Polr3gl	C	T	3: 96,580,467	R52Q	possibly damaging	Het
Ptgds	A	G	2: 25,467,816		probably null	Het
Scarb2	T	C	5: 92,454,075	D320G	probably benign	Het
Sdk2	T	C	11: 113,803,169	Y1812C	probably damaging	Het
Skint8	C	A	4: 111,937,025	T204N	probably benign	Het
Slc23a2	T	C	2: 132,094,203	Q49R	possibly damaging	Het
Slc26a7	T	C	4: 14,552,476	Q227R	probably benign	Het
Sntn	C	T	14: 13,679,108	T94I	probably damaging	Het
Spem2	C	T	11: 69,817,756	G128S	probably benign	Het
Supt16	A	T	14: 52,171,450	S822R	probably damaging	Het
Syn3	T	C	10: 86,080,252	Y290C	probably damaging	Het
Tdrd6	C	G	17: 43,627,708	E816D	probably benign	Het
Tln1	A	T	4: 43,556,302	M72K	probably damaging	Het
Tlnrd1	A	G	7: 83,882,779	V148A	probably damaging	Het
Trim24	C	A	6: 37,958,678	T832K	probably benign	Het
Ubr4	C	T	4: 139,414,404	A1267V	probably damaging	Het
Usp17lb	A	T	7: 104,841,285	M145K	probably damaging	Het
Vmn1r178	T	A	7: 23,894,337	M270K	probably benign	Het
Vmn2r70	A	T	7: 85,559,611	C553S	probably damaging	Het
Vps37c	G	T	19: 10,710,329	E51D	probably damaging	Het
Zfp62	T	G	11: 49,216,379	Y432*	probably null	Het

Other mutations in Oog2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Oog2	APN	4	144195172	missense	probably damaging	1.00
IGL01317:Oog2	APN	4	144195267	missense	probably benign	0.16
IGL01697:Oog2	APN	4	144195184	missense	possibly damaging	0.90
IGL02237:Oog2	APN	4	144196446	missense	possibly damaging	0.95
IGL02411:Oog2	APN	4	144195048	missense	probably damaging	0.99
IGL02476:Oog2	APN	4	144195229	missense	probably benign	0.02
IGL03284:Oog2	APN	4	144196607	unclassified	probably benign
IGL03394:Oog2	APN	4	144194006	missense	probably benign	0.17
R0538:Oog2	UTSW	4	144196084	nonsense	probably null
R0892:Oog2	UTSW	4	144196499	missense	probably benign	0.00
R1024:Oog2	UTSW	4	144196286	missense	probably damaging	1.00
R4156:Oog2	UTSW	4	144193953	intron	probably benign
R4157:Oog2	UTSW	4	144193953	intron	probably benign
R4166:Oog2	UTSW	4	144194841	missense	probably damaging	1.00
R4167:Oog2	UTSW	4	144196212	missense	probably benign	0.18
R4732:Oog2	UTSW	4	144193941	intron	probably benign
R4734:Oog2	UTSW	4	144196451	missense	probably benign	0.00
R4741:Oog2	UTSW	4	144195145	missense	possibly damaging	0.94
R4909:Oog2	UTSW	4	144195099	missense	possibly damaging	0.78
R4954:Oog2	UTSW	4	144190732	start gained	probably benign
R6437:Oog2	UTSW	4	144195108	splice site	probably null
R6487:Oog2	UTSW	4	144196485	missense	possibly damaging	0.48
R6946:Oog2	UTSW	4	144196464	missense	possibly damaging	0.95
R7167:Oog2	UTSW	4	144195175	missense	probably benign	0.04
R7303:Oog2	UTSW	4	144195342	missense	probably benign	0.04
R7399:Oog2	UTSW	4	144195281	missense	probably benign	0.01
R8004:Oog2	UTSW	4	144194251	missense	probably benign	0.00
R8141:Oog2	UTSW	4	144194207	missense	probably damaging	0.97
R8411:Oog2	UTSW	4	144194173	missense	probably damaging	1.00
R8932:Oog2	UTSW	4	144194115	missense	probably benign	0.00
R9290:Oog2	UTSW	4	144196445	missense	probably benign	0.02
R9348:Oog2	UTSW	4	144195219	missense	probably damaging	1.00
R9614:Oog2	UTSW	4	144196137	missense	probably damaging	1.00
RF009:Oog2	UTSW	4	144195285	missense	probably benign	0.36
Z1177:Oog2	UTSW	4	144194015	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCCGCAGTCATAGAAATGTTC -3'
(R):5'- GTGACCAGACCATCATGGAC -3'

Sequencing Primer
(F):5'- AGATCTGGAACTATCTTGTCTTTGC -3'
(R):5'- GGACTACCAAAACTGTAAAACAAAAC -3'

Posted On

2019-05-13