Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Rorb'

453519

Institutional Source

Beutler Lab

Gene Symbol

Rorb

Ensembl Gene

ENSMUSG00000036192

Gene Name

RAR-related orphan receptor beta

Synonyms

hstp, Rorbeta, RZR-beta, Nr1f2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02988 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

18907969-19088560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18915336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 441 (F441I)

Ref Sequence

ENSEMBL: ENSMUSP00000047597 (fasta)

Gene Model

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

AlphaFold

Q8R1B8

Predicted Effect

probably damaging
Transcript: ENSMUST00000040153
AA Change: F441I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: F441I

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 damaging
Transcript: ENSMUST00000112828
AA Change: F356I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: F356I

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 damaging
Transcript: ENSMUST00000112832
AA Change: F430I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: F430I

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

Meta Mutation Damage Score

0.2069

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aadacl4fm5	T	A	4: 144,513,100 (GRCm39)		probably benign	Het
Adgrd1	G	A	5: 129,221,074 (GRCm39)	A488T	probably benign	Het
Ano3	T	C	2: 110,605,355 (GRCm39)	S284G	probably damaging	Het
Aox1	G	T	1: 58,376,509 (GRCm39)	V897L	probably benign	Het
Arl6	T	A	16: 59,434,209 (GRCm39)		probably null	Het
Blnk	G	A	19: 40,917,660 (GRCm39)	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590 (GRCm39)	T1221I	probably benign	Het
Cbll1	A	T	12: 31,542,171 (GRCm39)	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,086,484 (GRCm39)	Y279H	probably damaging	Het
Cflar	A	T	1: 58,780,190 (GRCm39)	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,897,272 (GRCm39)	Y347*	probably null	Het
Defa27	T	C	8: 21,805,583 (GRCm39)	S8P	probably damaging	Het
Depdc5	A	C	5: 33,113,511 (GRCm39)		probably null	Het
Dlg5	A	G	14: 24,216,323 (GRCm39)	F573S	probably damaging	Het
Fam20c	A	T	5: 138,741,749 (GRCm39)	E120V	probably benign	Het
Fam53a	T	C	5: 33,764,819 (GRCm39)	K296E	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,972,355 (GRCm39)	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,476,042 (GRCm39)		probably null	Het
Gm7582	G	A	1: 85,019,588 (GRCm39)		noncoding transcript	Het
Golga7b	A	C	19: 42,255,239 (GRCm39)	Y63S	probably damaging	Het
Hexb	A	G	13: 97,334,729 (GRCm39)	L14P	unknown	Het
Hsd17b3	A	C	13: 64,236,914 (GRCm39)	L10R	probably damaging	Het
Il6st	T	C	13: 112,635,420 (GRCm39)	F611L	probably damaging	Het
Ints13	T	A	6: 146,457,646 (GRCm39)	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,799,146 (GRCm39)	C685F	probably damaging	Het
Kif5c	A	G	2: 49,509,729 (GRCm39)	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,497,221 (GRCm39)		probably null	Het
Minar1	A	G	9: 89,484,792 (GRCm39)	S202P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,216,397 (GRCm39)	R62Q	probably benign	Het
Myo1g	T	C	11: 6,458,183 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,037,423 (GRCm39)		probably benign	Het
Nobox	G	A	6: 43,282,095 (GRCm39)	S326L	possibly damaging	Het
Nsl1	C	A	1: 190,795,300 (GRCm39)	S22*	probably null	Het
Or5b3	A	C	19: 13,388,826 (GRCm39)	K298Q	possibly damaging	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,651,471 (GRCm39)	R940*	probably null	Het
Plcd3	T	A	11: 102,967,568 (GRCm39)	Q458L	probably benign	Het
Polm	T	A	11: 5,786,343 (GRCm39)	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330 (GRCm39)	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,053,113 (GRCm39)	K917*	probably null	Het
Rad54l2	A	G	9: 106,577,784 (GRCm39)	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,318,035 (GRCm39)		probably null	Het
Rnf215	A	G	11: 4,086,785 (GRCm39)	E194G	probably damaging	Het
Sel1l2	C	A	2: 140,090,508 (GRCm39)	G378V	probably damaging	Het
Sema6a	G	T	18: 47,431,281 (GRCm39)	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,006,266 (GRCm39)	M274K	probably benign	Het
Siglec15	A	C	18: 78,092,462 (GRCm39)	L32R	probably damaging	Het
Siglecg	A	T	7: 43,067,476 (GRCm39)	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,303,066 (GRCm39)		probably benign	Het
Slc9b2	G	T	3: 135,024,179 (GRCm39)	A77S	probably benign	Het
Slit3	T	A	11: 35,598,890 (GRCm39)	V1498D	probably damaging	Het
Snorc	A	G	1: 87,402,926 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stxbp2	T	C	8: 3,683,267 (GRCm39)		probably benign	Het
Tbc1d9b	T	C	11: 50,042,773 (GRCm39)	S482P	possibly damaging	Het
Tec	A	G	5: 72,926,090 (GRCm39)	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,688,381 (GRCm39)	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tm4sf1	A	T	3: 57,200,537 (GRCm39)		probably null	Het
Tmcc1	T	C	6: 116,019,889 (GRCm39)	E306G	probably damaging	Het
Traf3ip3	A	T	1: 192,877,182 (GRCm39)		probably null	Het
Utf1	C	T	7: 139,523,875 (GRCm39)	P30L	possibly damaging	Het
Wdfy3	A	T	5: 102,077,847 (GRCm39)	C880S	probably damaging	Het

Other mutations in Rorb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Rorb	APN	19	18,934,692 (GRCm39)	nonsense	probably null
IGL01576:Rorb	APN	19	18,934,698 (GRCm39)	missense	probably damaging	1.00
IGL02863:Rorb	APN	19	18,929,617 (GRCm39)	missense	probably benign	0.05
IGL02886:Rorb	APN	19	18,954,943 (GRCm39)	critical splice donor site	probably null
4-limb_clasper	UTSW	19	18,960,715 (GRCm39)	missense	probably damaging	1.00
dee-no	UTSW	19	18,932,417 (GRCm39)	missense	probably damaging	1.00
grasshopper	UTSW	19	19,087,921 (GRCm39)	start codon destroyed	probably null	0.45
R0748:Rorb	UTSW	19	18,955,164 (GRCm39)	missense	probably damaging	0.97
R1087:Rorb	UTSW	19	18,937,778 (GRCm39)	missense	probably damaging	1.00
R1438:Rorb	UTSW	19	18,932,417 (GRCm39)	missense	probably damaging	1.00
R1710:Rorb	UTSW	19	18,937,865 (GRCm39)	missense	probably damaging	1.00
R1846:Rorb	UTSW	19	18,932,445 (GRCm39)	missense	probably damaging	1.00
R1852:Rorb	UTSW	19	18,939,447 (GRCm39)	missense	probably damaging	1.00
R1972:Rorb	UTSW	19	18,929,567 (GRCm39)	missense	probably damaging	0.96
R3903:Rorb	UTSW	19	18,939,463 (GRCm39)	missense	probably damaging	0.99
R3978:Rorb	UTSW	19	18,915,254 (GRCm39)	missense	probably benign	0.00
R4497:Rorb	UTSW	19	18,954,992 (GRCm39)	missense	possibly damaging	0.95
R4982:Rorb	UTSW	19	18,955,052 (GRCm39)	missense	probably benign	0.05
R5602:Rorb	UTSW	19	18,955,301 (GRCm39)	missense	probably damaging	0.97
R5733:Rorb	UTSW	19	18,965,471 (GRCm39)	missense	probably damaging	1.00
R6267:Rorb	UTSW	19	18,955,221 (GRCm39)	missense	possibly damaging	0.88
R6455:Rorb	UTSW	19	18,937,856 (GRCm39)	missense	probably damaging	1.00
R6544:Rorb	UTSW	19	18,929,614 (GRCm39)	missense	possibly damaging	0.66
R6753:Rorb	UTSW	19	18,934,611 (GRCm39)	missense	probably benign	0.02
R7817:Rorb	UTSW	19	18,965,460 (GRCm39)	missense	probably damaging	1.00
R8708:Rorb	UTSW	19	18,960,780 (GRCm39)	missense	probably damaging	1.00
R8918:Rorb	UTSW	19	18,915,356 (GRCm39)	missense	probably damaging	1.00
R8974:Rorb	UTSW	19	18,955,070 (GRCm39)	missense	probably benign	0.00
R9033:Rorb	UTSW	19	18,965,422 (GRCm39)	start gained	probably benign
R9136:Rorb	UTSW	19	18,934,686 (GRCm39)	missense	probably damaging	1.00
R9617:Rorb	UTSW	19	18,939,499 (GRCm39)	nonsense	probably null
R9622:Rorb	UTSW	19	18,955,115 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATTCCTAATGTTGCAGTAGTGAC -3'
(R):5'- TGAAAGTGAGCCTTCATTCTCTC -3'

Sequencing Primer
(F):5'- GCAGTAGTGACATTTTCCTTAAGTCC -3'
(R):5'- AAAGTGAGCCTTCATTCTCTCTGAAC -3'

Posted On

2017-02-08