Mutagenetix > Incidental Mutation

Incidental Mutation 'R8023:Obox2'

617528

Institutional Source

Beutler Lab

Gene Symbol

Obox2

Ensembl Gene

ENSMUSG00000074369

Gene Name

oocyte specific homeobox 2

Synonyms

MMRRC Submission

067462-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R8023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15122776-15132470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15131145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 84 (K84E)

Ref Sequence

ENSEMBL: ENSMUSP00000042995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036575] [ENSMUST00000172478] [ENSMUST00000174076] [ENSMUST00000174305] [ENSMUST00000181001]

AlphaFold

E9PXV9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036575
AA Change: K84E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042995
Gene: ENSMUSG00000074369
AA Change: K84E

Domain	Start	End	E-Value	Type
Blast:HOX	94	124	3e-9	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172478
AA Change: K84E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133450
Gene: ENSMUSG00000074369
AA Change: K84E

Domain	Start	End	E-Value	Type
Blast:HOX	94	124	3e-9	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174076
AA Change: K84E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133793
Gene: ENSMUSG00000074369
AA Change: K84E

Domain	Start	End	E-Value	Type
Blast:HOX	94	124	3e-9	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174305
AA Change: K84E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134275
Gene: ENSMUSG00000074369
AA Change: K84E

Domain	Start	End	E-Value	Type
Blast:HOX	94	124	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000181001

SMART Domains

Protein: ENSMUSP00000138010
Gene: ENSMUSG00000054310

Domain	Start	End	E-Value	Type
HOX	94	156	2.18e-18	SMART

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	G	17: 57,152,448 (GRCm39)	Y665H	probably damaging	Het
Acte1	T	C	7: 143,445,528 (GRCm39)	S192P	probably damaging	Het
Agbl4	T	A	4: 111,474,345 (GRCm39)	V378E	probably benign	Het
Card9	T	C	2: 26,247,327 (GRCm39)	D274G	probably benign	Het
Ccnc	T	C	4: 21,747,578 (GRCm39)		probably null	Het
Col1a2	T	G	6: 4,533,847 (GRCm39)	S843A	unknown	Het
Cux1	T	A	5: 136,402,251 (GRCm39)	I111F	probably damaging	Het
Fam24b	A	C	7: 130,927,869 (GRCm39)	S107A	probably benign	Het
Fndc7	C	T	3: 108,774,461 (GRCm39)	C599Y	probably damaging	Het
Gm3604	G	A	13: 62,517,683 (GRCm39)	A225V	probably damaging	Het
Grhl3	A	G	4: 135,277,640 (GRCm39)	V475A	probably benign	Het
H2ac20	A	G	3: 96,128,106 (GRCm39)	S19P	unknown	Het
Heg1	T	A	16: 33,550,895 (GRCm39)	V958E	possibly damaging	Het
Hibch	T	C	1: 52,899,197 (GRCm39)	M30T	probably benign	Het
Hk2	T	A	6: 82,705,790 (GRCm39)	M838L	probably benign	Het
Hpd	A	G	5: 123,314,297 (GRCm39)	F206S	probably damaging	Het
Il34	C	T	8: 111,469,284 (GRCm39)	C177Y	probably damaging	Het
Il6ra	A	G	3: 89,820,260 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,088,988 (GRCm39)	I2240T	probably damaging	Het
Med24	A	G	11: 98,609,321 (GRCm39)		probably null	Het
Mpz	A	G	1: 170,987,602 (GRCm39)	D246G	probably damaging	Het
Ncam1	C	A	9: 49,421,057 (GRCm39)	A753S	probably benign	Het
Ndufs2	A	T	1: 171,064,263 (GRCm39)	M375K	probably damaging	Het
Or4c31	A	G	2: 88,292,022 (GRCm39)	I132V	probably benign	Het
Or51k1	A	G	7: 103,661,006 (GRCm39)	I301T	probably damaging	Het
Or7e178	C	T	9: 20,225,545 (GRCm39)	V224I	probably benign	Het
Pds5a	A	T	5: 65,795,241 (GRCm39)	L665Q	probably damaging	Het
Prr29	A	G	11: 106,267,099 (GRCm39)	E38G	probably benign	Het
Ptpn3	G	C	4: 57,248,688 (GRCm39)	D215E	probably benign	Het
Ptprq	G	A	10: 107,488,477 (GRCm39)	Q987*	probably null	Het
Ranbp6	T	C	19: 29,789,222 (GRCm39)	S377G	possibly damaging	Het
Rps6ka1	A	T	4: 133,594,506 (GRCm39)	L168Q	probably damaging	Het
Sall1	A	G	8: 89,759,171 (GRCm39)	I311T	probably damaging	Het
Satb2	T	C	1: 56,930,390 (GRCm39)	Y211C	probably damaging	Het
Sis	T	A	3: 72,859,813 (GRCm39)	Y314F	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc6a20a	T	C	9: 123,489,657 (GRCm39)	N129D	probably damaging	Het
Slu7	G	A	11: 43,336,975 (GRCm39)	R572Q	probably benign	Het
Tbx6	C	T	7: 126,382,031 (GRCm39)	A123V	possibly damaging	Het
Tcn2	A	T	11: 3,877,579 (GRCm39)	I23K	possibly damaging	Het
Tiparp	A	G	3: 65,439,224 (GRCm39)	D180G	probably benign	Het
Tln2	A	G	9: 67,131,346 (GRCm39)	L1400P	probably damaging	Het
Ttf2	T	C	3: 100,863,571 (GRCm39)	T588A	probably benign	Het
Ttn	A	G	2: 76,769,564 (GRCm39)	V2741A	unknown	Het
Txlna	A	T	4: 129,533,278 (GRCm39)	S83R	probably damaging	Het
Vmn2r16	C	T	5: 109,488,272 (GRCm39)	Q382*	probably null	Het
Vmn2r76	A	G	7: 85,879,028 (GRCm39)	V424A	probably benign	Het
Zfc3h1	T	A	10: 115,256,553 (GRCm39)	L1508I	probably damaging	Het
Zfp189	G	A	4: 49,530,312 (GRCm39)	G472R	probably damaging	Het
Zfp462	G	A	4: 55,073,106 (GRCm39)		probably null	Het

Other mutations in Obox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02798:Obox2	APN	7	15,130,807 (GRCm39)	missense	possibly damaging	0.85
R1444:Obox2	UTSW	7	15,130,957 (GRCm39)	missense	possibly damaging	0.95
R1620:Obox2	UTSW	7	15,130,966 (GRCm39)	missense	probably benign	0.36
R1993:Obox2	UTSW	7	15,131,174 (GRCm39)	missense	probably benign	0.00
R2394:Obox2	UTSW	7	15,130,935 (GRCm39)	missense	possibly damaging	0.93
R2397:Obox2	UTSW	7	15,130,971 (GRCm39)	missense	probably benign	0.02
R3702:Obox2	UTSW	7	15,130,882 (GRCm39)	missense	probably benign	0.03
R4926:Obox2	UTSW	7	15,131,102 (GRCm39)	splice site	probably null
R6878:Obox2	UTSW	7	15,131,245 (GRCm39)	missense	probably benign	0.02
R7373:Obox2	UTSW	7	15,131,145 (GRCm39)	nonsense	probably null
R7483:Obox2	UTSW	7	15,131,241 (GRCm39)	missense	probably damaging	0.97
R8017:Obox2	UTSW	7	15,130,974 (GRCm39)	missense	possibly damaging	0.77
R8295:Obox2	UTSW	7	15,131,247 (GRCm39)	missense	probably benign	0.00
R8682:Obox2	UTSW	7	15,130,912 (GRCm39)	missense	possibly damaging	0.93
R9273:Obox2	UTSW	7	15,131,290 (GRCm39)	missense	unknown
R9340:Obox2	UTSW	7	15,130,789 (GRCm39)	missense	probably damaging	0.99
R9471:Obox2	UTSW	7	15,131,113 (GRCm39)	missense	probably damaging	1.00
R9567:Obox2	UTSW	7	15,130,771 (GRCm39)	start codon destroyed	probably null	0.66
Z1088:Obox2	UTSW	7	15,131,263 (GRCm39)	missense	possibly damaging	0.94
Z1176:Obox2	UTSW	7	15,131,121 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- AGTCTGAAGGACCATCAAGAC -3'
(R):5'- AAAGGGGACATTGTTGCTGTC -3'

Sequencing Primer
(F):5'- GTCTGAAGGACCATCAAGACAATCAG -3'
(R):5'- ACATTGTTGCTGTCGGACTGAG -3'

Posted On

2020-01-23