Mutagenetix > Incidental Mutation

Incidental Mutation 'R8918:Rorb'

679085

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

068705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8918 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18907969-19088560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18915356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 434 (H434L)

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: H434L

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

SMART Domains

Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: H434L

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: H349L

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

SMART Domains

Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: H349L

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: H423L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: H423L

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,333,315 (GRCm39)	F480L	probably damaging	Het
Actr6	A	T	10: 89,553,057 (GRCm39)	I267N	probably damaging	Het
Ank2	A	G	3: 126,737,380 (GRCm39)	S2835P	unknown	Het
Arfgef3	C	T	10: 18,511,453 (GRCm39)	R753Q	probably benign	Het
Arid3a	A	G	10: 79,784,765 (GRCm39)	T285A	probably benign	Het
Atad5	T	C	11: 79,986,473 (GRCm39)	V520A	probably benign	Het
Atoh1	T	G	6: 64,707,241 (GRCm39)	L312R	probably damaging	Het
Brd10	T	C	19: 29,696,841 (GRCm39)	K884R	possibly damaging	Het
Cpt1a	T	C	19: 3,408,258 (GRCm39)	V179A		Het
Crocc2	C	A	1: 93,129,144 (GRCm39)	N816K	possibly damaging	Het
Csf2ra	A	T	19: 61,214,721 (GRCm39)	V201D	probably damaging	Het
Dok1	C	T	6: 83,008,324 (GRCm39)	V453I	probably benign	Het
Elp4	A	G	2: 105,662,600 (GRCm39)	S175P	probably benign	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Etl4	G	A	2: 20,748,733 (GRCm39)	S357N	probably benign	Het
Etl4	A	G	2: 20,811,246 (GRCm39)	T1478A	probably benign	Het
Gabra1	A	G	11: 42,026,320 (GRCm39)	F324S	probably damaging	Het
Gm11437	T	C	11: 84,043,530 (GRCm39)	T254A	probably benign	Het
Gria2	T	C	3: 80,599,706 (GRCm39)	E726G	probably damaging	Het
Gstm2	A	T	3: 107,892,382 (GRCm39)	C115S	possibly damaging	Het
Ighv1-12	T	C	12: 114,579,553 (GRCm39)	T90A	probably damaging	Het
Inf2	A	G	12: 112,572,703 (GRCm39)	I690V	unknown	Het
Kdm3b	A	G	18: 34,970,650 (GRCm39)	N1739S	probably damaging	Het
Lrp1b	A	T	2: 40,615,893 (GRCm39)	N3614K		Het
Mapk8ip3	A	G	17: 25,131,727 (GRCm39)	L404P	probably damaging	Het
Mcl1	T	C	3: 95,567,192 (GRCm39)	F251S	probably damaging	Het
Mdn1	T	A	4: 32,744,579 (GRCm39)	L4038*	probably null	Het
Mmp8	T	C	9: 7,561,485 (GRCm39)	V163A	probably benign	Het
Myo18b	C	T	5: 113,022,873 (GRCm39)		probably benign	Het
Ndst1	C	T	18: 60,825,083 (GRCm39)	R745H	probably benign	Het
Or4d2b	A	G	11: 87,780,284 (GRCm39)	V146A	probably benign	Het
Or8c18	T	C	9: 38,203,385 (GRCm39)	F48S	probably benign	Het
Pard3	C	T	8: 128,098,011 (GRCm39)	R351C	probably benign	Het
Pcdhgb4	A	G	18: 37,855,648 (GRCm39)	D681G	probably damaging	Het
Pde10a	G	A	17: 9,160,063 (GRCm39)	A163T	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pelp1	A	G	11: 70,296,505 (GRCm39)	L123S	probably damaging	Het
Plekhh2	A	G	17: 84,906,621 (GRCm39)	D1152G	possibly damaging	Het
Rag1	T	C	2: 101,472,098 (GRCm39)	T1015A	probably benign	Het
Rock2	C	T	12: 16,990,422 (GRCm39)	Q115*	probably null	Het
Safb2	A	T	17: 56,882,975 (GRCm39)	C219*	probably null	Het
Sema3a	A	G	5: 13,573,099 (GRCm39)	H209R	probably damaging	Het
Serpinb9g	T	G	13: 33,679,131 (GRCm39)	S334A	probably benign	Het
Slc5a9	T	A	4: 111,741,147 (GRCm39)	M500L	probably benign	Het
Snap91	A	G	9: 86,651,611 (GRCm39)	S810P	unknown	Het
Spink5	G	T	18: 44,100,087 (GRCm39)	A35S	probably damaging	Het
Stxbp5l	G	A	16: 36,954,892 (GRCm39)	T887I		Het
Tacc2	T	C	7: 130,227,823 (GRCm39)	F1503L	probably benign	Het
Tectb	A	G	19: 55,180,000 (GRCm39)	E272G	probably damaging	Het
Trdn	A	T	10: 33,015,117 (GRCm39)	I24F	probably benign	Het
Tshr	G	A	12: 91,504,211 (GRCm39)	S383N	probably benign	Het
Tspan1	C	A	4: 116,020,970 (GRCm39)	C149F	probably damaging	Het
Ttn	A	T	2: 76,570,862 (GRCm39)	L26677Q	probably damaging	Het
Ush2a	T	A	1: 188,270,017 (GRCm39)	F1755I	possibly damaging	Het
Vps13d	T	A	4: 144,772,873 (GRCm39)	I4047F		Het
Zfp1010	A	C	2: 176,958,551 (GRCm39)	S29R	probably benign	Het
Zfp369	T	A	13: 65,443,529 (GRCm39)	L336*	probably null	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfp984	T	C	4: 147,840,623 (GRCm39)	H76R	possibly damaging	Het
Zscan10	G	A	17: 23,826,116 (GRCm39)	G138S	probably benign	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
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
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'- CATTGCTTTTGTCTTAACGGCG -3'
(R):5'- CTTACCATGGGCTGAGAAATATG -3'

Sequencing Primer
(F):5'- TAACGGCGATGCATTCCATG -3'
(R):5'- GCTGAAAGTGAGCCTTCATTC -3'

Posted On

2021-08-02