Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01107:Rorb'

53254

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rorb

Ensembl Gene

ENSMUSG00000036192

Gene Name

RAR-related orphan receptor beta

Synonyms

Nr1f2, Rorbeta, RZR-beta

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01107

Quality Score

Status

Chromosome

Chromosomal Location

18930605-19111196 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 18957328 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 300 (L300*)

Ref Sequence

ENSEMBL: ENSMUSP00000108451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040153] [ENSMUST00000112828] [ENSMUST00000112832]

Predicted Effect

probably null
Transcript: ENSMUST00000040153
AA Change: L311*

SMART Domains

Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: L311*

Domain	Start	End	E-Value	Type
ZnF_C4	18	89	1.51e-39	SMART
coiled coil region	95	133	N/A	INTRINSIC
low complexity region	134	145	N/A	INTRINSIC
HOLI	275	431	1.83e-29	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112828
AA Change: L226*

SMART Domains

Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: L226*

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
low complexity region	49	60	N/A	INTRINSIC
HOLI	190	346	1.83e-29	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112832
AA Change: L300*

SMART Domains

Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: L300*

Domain	Start	End	E-Value	Type
ZnF_C4	7	78	1.51e-39	SMART
coiled coil region	84	122	N/A	INTRINSIC
low complexity region	123	134	N/A	INTRINSIC
HOLI	264	420	1.83e-29	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have impaired vision and a variety of behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,797,936	F215Y	probably damaging	Het
2700049A03Rik	T	C	12: 71,194,468		probably null	Het
Akip1	C	T	7: 109,711,838	T195M	probably damaging	Het
Arhgef16	T	C	4: 154,280,244	N631S	probably benign	Het
Brat1	C	T	5: 140,717,177	S544L	probably damaging	Het
Cfap65	C	T	1: 74,919,183		probably null	Het
D17Wsu92e	A	T	17: 27,786,069		probably null	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnajc4	C	T	19: 6,989,501	R153H	probably benign	Het
Dusp11	A	G	6: 85,952,370		probably benign	Het
E2f4	T	A	8: 105,304,177		probably benign	Het
Ece1	T	A	4: 137,938,658	L271Q	probably damaging	Het
Fcgrt	T	C	7: 45,093,328	D343G	probably damaging	Het
Igsf10	T	C	3: 59,331,524	E412G	probably damaging	Het
Il4ra	G	T	7: 125,575,914	L431F	possibly damaging	Het
Krt86	T	A	15: 101,475,425	L200Q	probably damaging	Het
Lpcat1	T	A	13: 73,494,828	F126I	probably damaging	Het
Prag1	A	G	8: 36,099,931	T79A	probably benign	Het
Pramef12	A	T	4: 144,393,094	I301N	probably benign	Het
Psg29	G	T	7: 17,204,925	L41F	probably benign	Het
Rai14	C	T	15: 10,599,711		probably benign	Het
Reg3a	A	G	6: 78,383,245	D136G	probably benign	Het
Rif1	A	G	2: 52,111,303	T1590A	probably benign	Het
Sin3b	T	C	8: 72,731,105	C150R	possibly damaging	Het
Smarcc1	C	A	9: 110,221,937	H942N	probably damaging	Het
Tas2r105	A	G	6: 131,687,111	V118A	probably benign	Het
Tmem131	T	C	1: 36,829,581	S388G	probably damaging	Het
Ttll9	C	A	2: 153,002,889		probably benign	Het
Ush1c	A	G	7: 46,209,901	L498P	probably damaging	Het
Vmn2r100	A	G	17: 19,521,356	Y110C	probably damaging	Het
Zbtb11	T	C	16: 56,006,007	Y800H	probably damaging	Het
Zdhhc20	T	A	14: 57,865,589	E101V	probably damaging	Het

Other mutations in Rorb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Rorb	APN	19	18957334	missense	probably damaging	1.00
IGL02863:Rorb	APN	19	18952253	missense	probably benign	0.05
IGL02886:Rorb	APN	19	18977579	critical splice donor site	probably null
4-limb_clasper	UTSW	19	18983351	missense	probably damaging	1.00
dee-no	UTSW	19	18955053	missense	probably damaging	1.00
grasshopper	UTSW	19	19110557	start codon destroyed	probably null	0.45
IGL02988:Rorb	UTSW	19	18937972	missense	probably damaging	1.00
R0748:Rorb	UTSW	19	18977800	missense	probably damaging	0.97
R1087:Rorb	UTSW	19	18960414	missense	probably damaging	1.00
R1438:Rorb	UTSW	19	18955053	missense	probably damaging	1.00
R1710:Rorb	UTSW	19	18960501	missense	probably damaging	1.00
R1846:Rorb	UTSW	19	18955081	missense	probably damaging	1.00
R1852:Rorb	UTSW	19	18962083	missense	probably damaging	1.00
R1972:Rorb	UTSW	19	18952203	missense	probably damaging	0.96
R3903:Rorb	UTSW	19	18962099	missense	probably damaging	0.99
R3978:Rorb	UTSW	19	18937890	missense	probably benign	0.00
R4497:Rorb	UTSW	19	18977628	missense	possibly damaging	0.95
R4982:Rorb	UTSW	19	18977688	missense	probably benign	0.05
R5602:Rorb	UTSW	19	18977937	missense	probably damaging	0.97
R5733:Rorb	UTSW	19	18988107	missense	probably damaging	1.00
R6267:Rorb	UTSW	19	18977857	missense	possibly damaging	0.88
R6455:Rorb	UTSW	19	18960492	missense	probably damaging	1.00
R6544:Rorb	UTSW	19	18952250	missense	possibly damaging	0.66
R6753:Rorb	UTSW	19	18957247	missense	probably benign	0.02
R7817:Rorb	UTSW	19	18988096	missense	probably damaging	1.00
R8708:Rorb	UTSW	19	18983416	missense	probably damaging	1.00

Posted On

2013-06-21