Mutagenetix > Incidental Mutation

Incidental Mutation 'R1438:Rorb'

160816

Institutional Source

Beutler Lab

Gene Symbol

Rorb

Ensembl Gene

ENSMUSG00000036192

Gene Name

RAR-related orphan receptor beta

Synonyms

hstp, Rorbeta, RZR-beta, Nr1f2

MMRRC Submission

039493-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18907969-19088560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18932417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 367 (L367P)

Ref Sequence

ENSEMBL: ENSMUSP00000108451 (fasta)

Gene Model

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

AlphaFold

Q8R1B8

Predicted Effect

probably damaging
Transcript: ENSMUST00000040153
AA Change: L378P

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

SMART Domains

Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: L378P

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: L293P

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

SMART Domains

Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: L293P

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: L367P

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

SMART Domains

Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: L367P

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

0.9699

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

99% (80/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	T	5: 137,552,871 (GRCm39)	I67F	probably damaging	Het
Adam24	A	T	8: 41,134,431 (GRCm39)	N633I	probably benign	Het
Adgrg6	T	C	10: 14,344,585 (GRCm39)	S123G	possibly damaging	Het
Afdn	T	A	17: 14,075,652 (GRCm39)	F940L	probably damaging	Het
Ahrr	A	T	13: 74,372,987 (GRCm39)	Y26*	probably null	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Aox3	A	T	1: 58,192,337 (GRCm39)	T536S	probably benign	Het
Boc	A	T	16: 44,309,109 (GRCm39)		probably null	Het
Cchcr1	T	C	17: 35,841,457 (GRCm39)		probably null	Het
Cct2	A	T	10: 116,890,897 (GRCm39)		probably benign	Het
Cd84	A	T	1: 171,679,685 (GRCm39)	Y121F	probably damaging	Het
Cecr2	T	A	6: 120,738,433 (GRCm39)	C275*	probably null	Het
Chchd3	C	A	6: 32,985,503 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,007,971 (GRCm39)		probably benign	Het
Col5a3	T	C	9: 20,691,253 (GRCm39)	K1131E	probably damaging	Het
Dek	A	T	13: 47,241,647 (GRCm39)	S306T	probably benign	Het
Dhx32	T	C	7: 133,339,069 (GRCm39)	E322G	possibly damaging	Het
Dlg5	T	A	14: 24,204,673 (GRCm39)	D941V	possibly damaging	Het
Dnah10	A	G	5: 124,876,009 (GRCm39)	N2559S	probably benign	Het
Dnajc3	A	G	14: 119,205,518 (GRCm39)	T171A	probably benign	Het
Eftud2	G	T	11: 102,750,868 (GRCm39)	F308L	probably damaging	Het
Elp6	T	C	9: 110,143,123 (GRCm39)	F95S	probably damaging	Het
Emsy	C	T	7: 98,270,613 (GRCm39)	V450I	possibly damaging	Het
Exoc3	A	T	13: 74,338,298 (GRCm39)	M362K	probably damaging	Het
Fat2	A	T	11: 55,178,637 (GRCm39)	D1474E	probably damaging	Het
Fcgbp	T	A	7: 27,803,158 (GRCm39)	C1587*	probably null	Het
Fosl2	T	A	5: 32,304,329 (GRCm39)	L88Q	probably damaging	Het
Fsd2	T	C	7: 81,198,621 (GRCm39)	D381G	probably benign	Het
Golim4	A	C	3: 75,863,440 (GRCm39)	S56A	probably damaging	Het
Gpr39	T	C	1: 125,800,093 (GRCm39)		probably benign	Het
Gucy1b2	T	C	14: 62,651,770 (GRCm39)	I409V	probably damaging	Het
Hivep1	A	G	13: 42,311,596 (GRCm39)	T1279A	probably benign	Het
Ifit1bl2	T	A	19: 34,596,569 (GRCm39)	Q349L	possibly damaging	Het
Kcnc1	A	T	7: 46,077,691 (GRCm39)	I498F	possibly damaging	Het
Kctd21	T	A	7: 96,996,704 (GRCm39)	I59N	probably damaging	Het
Lama5	T	A	2: 179,824,593 (GRCm39)	T2577S	probably benign	Het
Mief2	G	T	11: 60,621,140 (GRCm39)	R9M	possibly damaging	Het
Mmp3	T	C	9: 7,453,705 (GRCm39)	V442A	probably benign	Het
Nkapd1	C	A	9: 50,518,972 (GRCm39)	K213N	possibly damaging	Het
Nrxn3	C	T	12: 90,298,909 (GRCm39)	R477W	probably damaging	Het
Or12e7	A	G	2: 87,288,336 (GRCm39)	T276A	probably benign	Het
Or7a41	T	A	10: 78,871,122 (GRCm39)	V164E	possibly damaging	Het
Parp1	A	G	1: 180,418,807 (GRCm39)	T656A	probably benign	Het
Pcdhb19	A	G	18: 37,631,015 (GRCm39)	D270G	probably damaging	Het
Phlpp1	A	G	1: 106,101,142 (GRCm39)	D470G	possibly damaging	Het
Prdm1	T	C	10: 44,318,124 (GRCm39)	E248G	probably benign	Het
Prtg	C	T	9: 72,818,032 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,818,529 (GRCm39)	Y424H	probably damaging	Het
Ptprr	T	C	10: 116,092,109 (GRCm39)	V369A	probably damaging	Het
Rai1	T	G	11: 60,076,221 (GRCm39)	V95G	probably benign	Het
Rasal3	T	A	17: 32,612,509 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,260,961 (GRCm39)	E195G	probably benign	Het
Rhbdd3	T	A	11: 5,053,332 (GRCm39)	L44Q	probably damaging	Het
Ripply2	T	C	9: 86,901,713 (GRCm39)	W80R	probably damaging	Het
Rnf183	A	G	4: 62,346,760 (GRCm39)	C13R	probably damaging	Het
Rpl7a-ps5	C	T	17: 58,146,135 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,114,581 (GRCm39)	N647D	probably benign	Het
Rtn1	A	T	12: 72,351,187 (GRCm39)	S341T	probably damaging	Het
Ryr3	T	C	2: 112,588,046 (GRCm39)	S2632G	probably benign	Het
Scube1	A	G	15: 83,499,227 (GRCm39)	C633R	possibly damaging	Het
Sdk1	A	T	5: 142,024,078 (GRCm39)	I723F	probably damaging	Het
Sec23a	A	T	12: 59,048,796 (GRCm39)	C109S	probably damaging	Het
Septin11	T	C	5: 93,296,287 (GRCm39)	F60L	probably damaging	Het
Sgf29	G	A	7: 126,271,063 (GRCm39)		probably null	Het
Skint5	A	G	4: 113,413,308 (GRCm39)		probably benign	Het
Smo	G	A	6: 29,755,482 (GRCm39)	V385I	possibly damaging	Het
Tada2a	G	A	11: 84,000,837 (GRCm39)	T76I	probably damaging	Het
Tas2r118	T	A	6: 23,969,422 (GRCm39)	H213L	possibly damaging	Het
Thoc5	A	T	11: 4,861,427 (GRCm39)		probably benign	Het
Tmem33	T	A	5: 67,424,634 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,546,247 (GRCm39)	L78P	probably damaging	Het
Uvssa	T	A	5: 33,571,228 (GRCm39)		probably benign	Het
Vmn2r50	A	T	7: 9,784,062 (GRCm39)	C137*	probably null	Het
Vmn2r81	A	G	10: 79,129,691 (GRCm39)	T861A	probably benign	Het
Wnt3	A	T	11: 103,699,077 (GRCm39)	N61I	probably damaging	Het
Zswim9	A	G	7: 13,011,144 (GRCm39)	I68T	possibly damaging	Het
Zzef1	T	C	11: 72,803,771 (GRCm39)	I2535T	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
IGL02988:Rorb	UTSW	19	18,915,336 (GRCm39)	missense	probably damaging	1.00
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
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'- GAAGCTACTTGCCTTTGCATTGTCC -3'
(R):5'- GTCACATGGAATCCACACTAGCCAG -3'

Sequencing Primer
(F):5'- GCCTTTGCATTGTCCAAAAATATC -3'
(R):5'- CCCCTGACTACGTACTTGATAATGAG -3'

Posted On

2014-03-14