Mutagenetix > Incidental Mutation

Incidental Mutation 'R7170:Rora'

558198

Institutional Source

Beutler Lab

Gene Symbol

Rora

Ensembl Gene

ENSMUSG00000032238

Gene Name

RAR-related orphan receptor alpha

Synonyms

tmgc26, Nr1f1, 9530021D13Rik

MMRRC Submission

045332-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R7170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68561068-69295528 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 69280472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 348 (C348*)

Ref Sequence

ENSEMBL: ENSMUSP00000034766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034766] [ENSMUST00000113624]

AlphaFold

P51448

Predicted Effect

probably null
Transcript: ENSMUST00000034766
AA Change: C348*

SMART Domains

Protein: ENSMUSP00000034766
Gene: ENSMUSG00000032238
AA Change: C348*

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
ZnF_C4	70	141	4.71e-41	SMART
low complexity region	161	175	N/A	INTRINSIC
HOLI	325	481	8.8e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113624
AA Change: C292*

SMART Domains

Protein: ENSMUSP00000109254
Gene: ENSMUSG00000032238
AA Change: C292*

Domain	Start	End	E-Value	Type
ZnF_C4	14	85	4.71e-41	SMART
low complexity region	105	119	N/A	INTRINSIC
HOLI	269	425	8.8e-32	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It 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, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation 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: Homozygotes for null mutations exhibit ataxia, cerebellar dysgenesis, impaired Purkinje and granule cell development, olfactory defects, hypoalphalipoproteinemia, and death around 4 weeks. Heterozygotes show slow Purkinje cell dedritic atrophy and loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,836,654 (GRCm39)	T1214A	probably benign	Het
Acte1	T	C	7: 143,450,102 (GRCm39)	S285P	probably damaging	Het
Adgrf5	G	A	17: 43,757,029 (GRCm39)	V708M	possibly damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ankrd7	T	A	6: 18,868,389 (GRCm39)	Y170*	probably null	Het
Aplp2	T	C	9: 31,081,739 (GRCm39)	D236G	probably benign	Het
Apoa5	T	C	9: 46,181,437 (GRCm39)	M171T	probably benign	Het
Bcas3	T	C	11: 85,386,744 (GRCm39)	V393A	probably damaging	Het
Ccdc47	T	C	11: 106,093,304 (GRCm39)	N370S	probably benign	Het
Cfap77	A	T	2: 28,875,854 (GRCm39)	Y85*	probably null	Het
Col4a3	G	A	1: 82,693,630 (GRCm39)		probably null	Het
Crnn	T	A	3: 93,056,020 (GRCm39)	S269T	possibly damaging	Het
Crocc2	G	A	1: 93,121,704 (GRCm39)	A618T	possibly damaging	Het
D030056L22Rik	A	G	19: 18,690,737 (GRCm39)	K17R	possibly damaging	Het
Emx1	G	A	6: 85,164,983 (GRCm39)	G20D	probably benign	Het
Fabp3	A	G	4: 130,207,763 (GRCm39)	D88G	probably benign	Het
Fam124a	A	C	14: 62,824,629 (GRCm39)	D41A	probably damaging	Het
Fanca	T	C	8: 123,997,945 (GRCm39)	E1247G	probably damaging	Het
Fat3	T	C	9: 15,917,870 (GRCm39)	R1518G	probably damaging	Het
Fgf12	T	C	16: 28,263,931 (GRCm39)	I5V	probably benign	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Ftdc1	G	T	16: 58,436,091 (GRCm39)	C77*	probably null	Het
Fubp3	A	G	2: 31,488,632 (GRCm39)	T163A	probably benign	Het
Gask1a	G	T	9: 121,807,301 (GRCm39)	A482S	probably damaging	Het
Gne	A	G	4: 44,040,361 (GRCm39)	L601P	possibly damaging	Het
Gphn	T	C	12: 78,730,663 (GRCm39)	V766A	possibly damaging	Het
Hsf1	G	T	15: 76,384,221 (GRCm39)	G402C	probably damaging	Het
Ift81	A	T	5: 122,693,596 (GRCm39)	Y604*	probably null	Het
Iqgap3	T	A	3: 88,009,370 (GRCm39)	I768N	probably damaging	Het
Kazald1	A	T	19: 45,066,855 (GRCm39)	D218V	probably benign	Het
Kmt2a	T	C	9: 44,722,018 (GRCm39)	N3776D	unknown	Het
Ktn1	T	C	14: 47,943,867 (GRCm39)	L872S	probably damaging	Het
Lama3	T	G	18: 12,537,133 (GRCm39)	F259L	probably benign	Het
Mfsd6	A	G	1: 52,701,547 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,950,694 (GRCm39)		probably null	Het
Mob3b	A	G	4: 35,083,839 (GRCm39)	Y117H	probably damaging	Het
Mrpl2	G	A	17: 46,959,181 (GRCm39)	G95D	probably damaging	Het
Mstn	A	T	1: 53,105,554 (GRCm39)	I299F	probably damaging	Het
Mta3	C	T	17: 84,022,091 (GRCm39)	R49W	probably damaging	Het
Mylk3	A	G	8: 86,077,114 (GRCm39)	F574L	probably damaging	Het
Naca	T	A	10: 127,875,990 (GRCm39)	S341T	unknown	Het
Ncoa1	T	C	12: 4,299,722 (GRCm39)	D1401G	probably benign	Het
Nedd4	T	A	9: 72,577,381 (GRCm39)	Y69N	probably benign	Het
Nin	T	C	12: 70,091,013 (GRCm39)	T801A		Het
Nsd1	T	A	13: 55,409,439 (GRCm39)	L1336*	probably null	Het
Nudt16l2	C	A	9: 105,020,600 (GRCm39)		probably null	Het
Oprk1	G	A	1: 5,672,619 (GRCm39)	R252H	probably damaging	Het
Or4c10b	A	T	2: 89,711,397 (GRCm39)	T76S	possibly damaging	Het
Or4c10b	A	G	2: 89,711,185 (GRCm39)	N5S	probably benign	Het
Or5w15	C	T	2: 87,568,056 (GRCm39)	G204D	probably damaging	Het
Pcdhga11	T	C	18: 37,889,717 (GRCm39)	F242L	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pold1	T	C	7: 44,191,572 (GRCm39)	H138R	possibly damaging	Het
Ptprd	A	T	4: 75,990,199 (GRCm39)	D504E	probably benign	Het
Rabgap1l	A	G	1: 160,472,935 (GRCm39)	V501A	probably damaging	Het
Rimklb	T	C	6: 122,429,697 (GRCm39)	N233S	probably benign	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Sdhaf3	T	C	6: 6,956,043 (GRCm39)	V6A	probably benign	Het
Serpina3m	T	A	12: 104,355,777 (GRCm39)	L148Q	probably damaging	Het
Sik1	T	C	17: 32,067,746 (GRCm39)	D443G	possibly damaging	Het
Sim2	A	G	16: 93,923,559 (GRCm39)	T366A	probably benign	Het
Slc32a1	T	C	2: 158,453,243 (GRCm39)	F28L	probably damaging	Het
Sorbs1	A	T	19: 40,314,573 (GRCm39)	Y746*	probably null	Het
Speer4b	T	A	5: 27,703,821 (GRCm39)	N106I	possibly damaging	Het
Sphkap	A	G	1: 83,243,706 (GRCm39)	S1269P	probably damaging	Het
Tcf4	T	C	18: 69,766,649 (GRCm39)	V205A	probably damaging	Het
Thsd7a	C	T	6: 12,352,090 (GRCm39)	R1035H		Het
Tmprss11c	A	T	5: 86,385,478 (GRCm39)		probably null	Het
Trim50	A	G	5: 135,396,365 (GRCm39)	T438A	probably benign	Het
Ttc21a	C	T	9: 119,774,607 (GRCm39)	P287L	probably damaging	Het
Ttc41	C	T	10: 86,549,367 (GRCm39)	S187L	probably benign	Het
Ttll3	C	T	6: 113,390,839 (GRCm39)	P807L	probably benign	Het
Ttn	A	C	2: 76,597,696 (GRCm39)	V19739G	probably benign	Het
Usp15	C	A	10: 123,007,100 (GRCm39)	C127F	probably damaging	Het
Vmn2r100	G	T	17: 19,752,233 (GRCm39)	A822S	probably benign	Het
Zan	A	T	5: 137,461,756 (GRCm39)	V1141D	unknown	Het
Zfp457	A	T	13: 67,442,241 (GRCm39)	C111*	probably null	Het
Zfp758	C	T	17: 22,594,116 (GRCm39)	Q201*	probably null	Het
Zkscan2	T	C	7: 123,099,030 (GRCm39)	E54G	possibly damaging	Het

Other mutations in Rora

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Rora	APN	9	69,278,572 (GRCm39)	missense	probably benign	0.31
IGL02355:Rora	APN	9	69,281,374 (GRCm39)	missense	probably damaging	1.00
IGL02362:Rora	APN	9	69,281,374 (GRCm39)	missense	probably damaging	1.00
PIT4696001:Rora	UTSW	9	69,271,841 (GRCm39)	missense	possibly damaging	0.92
R0091:Rora	UTSW	9	69,281,330 (GRCm39)	missense	probably damaging	1.00
R0555:Rora	UTSW	9	69,269,028 (GRCm39)	missense	probably damaging	1.00
R0609:Rora	UTSW	9	69,269,151 (GRCm39)	missense	probably damaging	1.00
R1483:Rora	UTSW	9	69,271,667 (GRCm39)	missense	probably benign	0.00
R1712:Rora	UTSW	9	69,282,771 (GRCm39)	missense	probably benign	0.23
R1785:Rora	UTSW	9	69,284,119 (GRCm39)	missense	probably benign	0.30
R2883:Rora	UTSW	9	69,282,717 (GRCm39)	missense	probably damaging	1.00
R4173:Rora	UTSW	9	68,561,192 (GRCm39)	missense	probably benign	0.41
R5226:Rora	UTSW	9	69,271,423 (GRCm39)	intron	probably benign
R5660:Rora	UTSW	9	68,561,203 (GRCm39)	missense	probably benign	0.27
R6029:Rora	UTSW	9	69,271,734 (GRCm39)	missense	probably benign	0.04
R6054:Rora	UTSW	9	69,286,084 (GRCm39)	missense	probably benign	0.04
R6114:Rora	UTSW	9	69,278,605 (GRCm39)	missense	probably benign
R6329:Rora	UTSW	9	69,280,468 (GRCm39)	missense	probably damaging	1.00
R7028:Rora	UTSW	9	69,103,365 (GRCm39)	missense	possibly damaging	0.46
R7233:Rora	UTSW	9	69,104,804 (GRCm39)	nonsense	probably null
R7512:Rora	UTSW	9	69,281,367 (GRCm39)	missense	probably benign	0.00
R9647:Rora	UTSW	9	69,255,450 (GRCm39)	missense	probably damaging	1.00
Z1176:Rora	UTSW	9	69,271,654 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGGAAGCAGGCTTTTATAACC -3'
(R):5'- GTTCAGTTTCTGCTAAGTATACCC -3'

Sequencing Primer
(F):5'- GCTTTTTACAAACTAGGAAGCCAGC -3'
(R):5'- AGTTTCTGCTAAGTATACCCTGAGC -3'

Posted On

2019-06-26