Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Osr2'

183235

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osr2

Ensembl Gene

ENSMUSG00000022330

Gene Name

odd-skipped related 2

Synonyms

Osr2B, Osr2A, 5430409I15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

35296244-35303451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35302138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 246 (H246R)

Ref Sequence

ENSEMBL: ENSMUSP00000154286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022952] [ENSMUST00000228152]

AlphaFold

Q91ZD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022952
AA Change: H246R

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

SMART Domains

Protein: ENSMUSP00000022952
Gene: ENSMUSG00000022330
AA Change: H246R

Domain	Start	End	E-Value	Type
low complexity region	136	153	N/A	INTRINSIC
ZnF_C2H2	172	194	2.05e-2	SMART
ZnF_C2H2	200	222	2.4e-3	SMART
ZnF_C2H2	228	250	4.4e-2	SMART
low complexity region	253	263	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227655

Predicted Effect

probably damaging
Transcript: ENSMUST00000228152
AA Change: H246R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228684

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, cleft of the secondary palate, and thickened tympanic rings. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,969,750 (GRCm39)	T2252A	probably benign	Het
Abcc2	C	T	19: 43,810,189 (GRCm39)		probably benign	Het
Abcf1	T	C	17: 36,272,954 (GRCm39)	E231G	probably benign	Het
Astn2	T	C	4: 65,977,390 (GRCm39)	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,671,766 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,763,473 (GRCm39)		probably benign	Het
Bdp1	A	G	13: 100,160,335 (GRCm39)	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,402,886 (GRCm39)	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,692,885 (GRCm39)	S218G	probably null	Het
Cand2	T	C	6: 115,780,599 (GRCm39)	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,398,824 (GRCm39)	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,487,291 (GRCm39)	V161D	probably damaging	Het
Ctsh	A	G	9: 89,943,600 (GRCm39)	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,677,371 (GRCm39)	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,677,372 (GRCm39)	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,079,543 (GRCm39)	W212*	probably null	Het
Dnah5	T	A	15: 28,343,698 (GRCm39)	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,590,320 (GRCm39)	M794T	probably damaging	Het
F11	G	T	8: 45,703,132 (GRCm39)	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,690,165 (GRCm39)	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705 (GRCm38)	I347V	probably benign	Het
Fip1l1	C	T	5: 74,706,084 (GRCm39)	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,252,211 (GRCm39)	D598A	probably benign	Het
Gm1110	T	A	9: 26,794,526 (GRCm39)	D500V	probably benign	Het
Gm3248	T	A	14: 5,943,928 (GRCm38)	M99L	probably benign	Het
Gpi-ps	A	T	8: 5,689,896 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,081,028 (GRCm39)	R218*	probably null	Het
Ikbip	G	A	10: 90,929,119 (GRCm39)		probably null	Het
Kcnb2	C	T	1: 15,781,033 (GRCm39)	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,869,105 (GRCm39)	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,791,219 (GRCm39)	T442A	probably benign	Het
Mgat1	T	A	11: 49,151,562 (GRCm39)	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,084,576 (GRCm39)	S334R	probably benign	Het
Notch2	A	T	3: 98,054,612 (GRCm39)	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,104,089 (GRCm39)	V520M	probably damaging	Het
Or10d1b	A	G	9: 39,613,549 (GRCm39)	V172A	probably damaging	Het
Or4p18	T	A	2: 88,232,421 (GRCm39)	T286S	possibly damaging	Het
Or5d39	A	T	2: 87,979,922 (GRCm39)	V147E	probably damaging	Het
Or6c3b	T	A	10: 129,527,887 (GRCm39)	T8S	probably benign	Het
Or8g55	A	T	9: 39,784,781 (GRCm39)	D70V	probably damaging	Het
Or8k39	A	C	2: 86,563,521 (GRCm39)	I145R	possibly damaging	Het
Papolg	T	C	11: 23,829,898 (GRCm39)	R224G	probably damaging	Het
Pax6	T	A	2: 105,522,623 (GRCm39)		probably null	Het
Pcyox1	A	G	6: 86,369,250 (GRCm39)	V192A	probably benign	Het
Phf1	C	T	17: 27,154,260 (GRCm39)	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,260,129 (GRCm39)	R45W	probably damaging	Het
Psmb9	T	A	17: 34,402,653 (GRCm39)	K109M	probably damaging	Het
Ptprt	T	A	2: 161,769,593 (GRCm39)	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,580,592 (GRCm39)	I70V	probably benign	Het
Rnf213	G	A	11: 119,309,135 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,905,368 (GRCm39)	I271F	probably benign	Het
Satb2	T	A	1: 56,835,952 (GRCm39)	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,375,859 (GRCm39)	G159V	possibly damaging	Het
Slit1	T	C	19: 41,634,579 (GRCm39)	I393V	probably damaging	Het
Spata20	T	A	11: 94,374,289 (GRCm39)	D327V	probably damaging	Het
Spata31e3	G	A	13: 50,400,721 (GRCm39)	P535L	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Tbc1d32	G	T	10: 56,027,871 (GRCm39)	Q744K	possibly damaging	Het
Tmem108	G	T	9: 103,366,439 (GRCm39)	N517K	possibly damaging	Het
Trp63	T	A	16: 25,681,211 (GRCm39)	N160K	probably damaging	Het
Ttll5	T	C	12: 85,980,385 (GRCm39)	S119P	probably damaging	Het
Ubqln3	T	A	7: 103,791,523 (GRCm39)	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,649,072 (GRCm39)	R638H	probably benign	Het
Wdr3	A	G	3: 100,058,298 (GRCm39)	S436P	probably damaging	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfp976	A	T	7: 42,263,656 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,657,303 (GRCm39)	M860V	probably damaging	Het
Zscan4d	T	C	7: 10,896,296 (GRCm39)	E358G	probably benign	Het

Other mutations in Osr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02627:Osr2	APN	15	35,300,600 (GRCm39)	missense	possibly damaging	0.91
IGL03371:Osr2	APN	15	35,301,000 (GRCm39)	nonsense	probably null
R1517:Osr2	UTSW	15	35,300,813 (GRCm39)	missense	probably benign
R1893:Osr2	UTSW	15	35,300,608 (GRCm39)	missense	possibly damaging	0.91
R4408:Osr2	UTSW	15	35,300,617 (GRCm39)	missense	possibly damaging	0.88
R7275:Osr2	UTSW	15	35,301,032 (GRCm39)	missense	probably damaging	1.00
R8157:Osr2	UTSW	15	35,302,063 (GRCm39)	missense	probably benign	0.03
R9087:Osr2	UTSW	15	35,301,010 (GRCm39)	missense	probably damaging	1.00
R9729:Osr2	UTSW	15	35,303,061 (GRCm39)	missense	probably benign

Posted On

2014-05-07