Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02886:Rorb'

363040

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 #

IGL02886

Quality Score

Status

Chromosome

Chromosomal Location

18930605-19111196 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 18977579 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108451 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000040153

SMART Domains

Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192

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

SMART Domains

Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192

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

SMART Domains

Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149635

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,128,214	C1140S	probably damaging	Het
Abhd12b	T	C	12: 70,182,966	I238T	possibly damaging	Het
Adgrb3	T	C	1: 25,504,910		probably null	Het
Baz2b	A	T	2: 59,957,743		probably null	Het
Brwd3	T	C	X: 108,750,848	Y1410C	probably damaging	Het
Casp7	T	A	19: 56,433,343	I71N	probably damaging	Het
Cspg4	A	T	9: 56,897,388	I1828F	probably damaging	Het
Cul2	T	C	18: 3,426,920		probably benign	Het
Fam187a	A	T	11: 102,886,554	T395S	probably benign	Het
Fcgr2b	A	G	1: 170,965,728	V244A	possibly damaging	Het
Fubp1	A	G	3: 152,220,755	E333G	possibly damaging	Het
Ganab	G	T	19: 8,911,027		probably benign	Het
Gm11639	A	G	11: 105,095,874	D5409G	possibly damaging	Het
Hpdl	A	G	4: 116,820,755	S170P	probably benign	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Klhl11	T	C	11: 100,472,221	S170G	possibly damaging	Het
Lrrc56	A	G	7: 141,197,177		probably benign	Het
Lrrd1	T	C	5: 3,851,534	V613A	probably benign	Het
Myo1e	T	C	9: 70,368,773	F757L	probably benign	Het
Myo5a	T	A	9: 75,151,887		probably benign	Het
Myocd	T	A	11: 65,178,743	D837V	probably damaging	Het
Naip6	T	C	13: 100,300,476	Q513R	possibly damaging	Het
Nol4l	A	G	2: 153,529,537	F76L	probably benign	Het
Olfr1328	T	C	4: 118,934,830	E6G	probably benign	Het
Olfr1360	T	A	13: 21,674,952		probably benign	Het
Olfr1450	T	A	19: 12,954,518	S310T	probably benign	Het
Pck1	G	A	2: 173,154,856	E188K	probably benign	Het
Pdcd11	T	C	19: 47,113,625	V1083A	possibly damaging	Het
Primpol	G	A	8: 46,593,584	Q226*	probably null	Het
Rbm15	A	C	3: 107,326,295	V959G	probably benign	Het
Spata9	T	C	13: 75,977,734	L112P	probably damaging	Het
Stk24	A	T	14: 121,292,115	L375Q	probably null	Het
Svip	A	G	7: 52,005,761	S11P	possibly damaging	Het
Taf13	T	C	3: 108,581,184		probably benign	Het
Tex30	T	C	1: 44,088,523	Y7C	probably damaging	Het
Tmem68	T	C	4: 3,569,361		probably benign	Het
Tnc	T	C	4: 64,000,107	E1189G	probably damaging	Het
Top2b	T	C	14: 16,365,688	S4P	possibly damaging	Het
Trav3-3	C	A	14: 53,666,365	L47I	probably benign	Het
Ttn	G	A	2: 76,903,213		probably benign	Het
Uroc1	A	G	6: 90,346,829		probably benign	Het

Other mutations in Rorb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Rorb	APN	19	18957328	nonsense	probably null
IGL01576:Rorb	APN	19	18957334	missense	probably damaging	1.00
IGL02863:Rorb	APN	19	18952253	missense	probably benign	0.05
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

Posted On

2015-12-18