Mutagenetix > Incidental Mutation

Incidental Mutation 'R6363:Nr4a1'

512607

Institutional Source

Beutler Lab

Gene Symbol

Nr4a1

Ensembl Gene

ENSMUSG00000023034

Gene Name

nuclear receptor subfamily 4, group A, member 1

Synonyms

Hmr, NP10, GFRP1, NGFI-B, Gfrp, Nur77, TIS1, N10, Hbr-1, TR3, Hbr1

MMRRC Submission

044513-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101152150-101172676 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101171996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 557 (R557C)

Ref Sequence

ENSEMBL: ENSMUSP00000155225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023779] [ENSMUST00000228985] [ENSMUST00000230814]

AlphaFold

P12813

Predicted Effect

probably damaging
Transcript: ENSMUST00000023779
AA Change: R557C

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

SMART Domains

Protein: ENSMUSP00000023779
Gene: ENSMUSG00000023034
AA Change: R557C

Domain	Start	End	E-Value	Type
low complexity region	37	52	N/A	INTRINSIC
low complexity region	77	102	N/A	INTRINSIC
low complexity region	183	204	N/A	INTRINSIC
ZnF_C4	267	338	1.93e-37	SMART
HOLI	411	569	3.77e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000228985
AA Change: R557C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231153

Meta Mutation Damage Score

0.5146

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile, and display a normal HPA axis function, as well as normal thymic and peripheral T cell deletion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	A	G	4: 111,423,982 (GRCm39)		probably benign	Het
Antxrl	G	T	14: 33,791,244 (GRCm39)	C379F	probably damaging	Het
Camsap3	T	C	8: 3,651,971 (GRCm39)	C256R	probably damaging	Het
Ccdc33	T	C	9: 58,021,618 (GRCm39)	E254G	probably benign	Het
Ccndbp1	C	T	2: 120,843,454 (GRCm39)	P282L	probably damaging	Het
Col5a1	C	T	2: 27,818,207 (GRCm39)	T144I	unknown	Het
Csmd2	A	T	4: 128,294,172 (GRCm39)	H1167L	probably benign	Het
Ctsk	A	T	3: 95,408,862 (GRCm39)	T82S	probably damaging	Het
Cyp3a41b	A	T	5: 145,507,197 (GRCm39)	F248I	probably damaging	Het
Dchs1	A	G	7: 105,407,679 (GRCm39)	I2051T	probably benign	Het
Dnah17	A	G	11: 118,001,331 (GRCm39)	F871L	probably benign	Het
Eif2b4	A	G	5: 31,348,583 (GRCm39)	V210A	probably damaging	Het
Eral1	A	G	11: 77,965,143 (GRCm39)	I385T	probably damaging	Het
Ercc8	T	C	13: 108,320,404 (GRCm39)	L330P	probably damaging	Het
Etfa	A	G	9: 55,407,417 (GRCm39)	V24A	probably damaging	Het
Fcrl1	A	T	3: 87,292,475 (GRCm39)	I156F	probably damaging	Het
Gm7298	A	G	6: 121,765,565 (GRCm39)	Y1465C	probably damaging	Het
Gpr17	A	G	18: 32,080,625 (GRCm39)	L146P	probably damaging	Het
Gpr171	A	G	3: 59,005,313 (GRCm39)	I154T	possibly damaging	Het
Hid1	T	A	11: 115,243,422 (GRCm39)	Y542F	probably damaging	Het
Hspa8	T	C	9: 40,714,361 (GRCm39)	V219A	probably damaging	Het
Klhl24	C	T	16: 19,938,933 (GRCm39)	T496I	possibly damaging	Het
Krtcap2	T	C	3: 89,156,413 (GRCm39)	S64P	probably damaging	Het
Msh3	C	A	13: 92,349,032 (GRCm39)	D1066Y	probably damaging	Het
Naaladl2	C	T	3: 24,389,481 (GRCm39)	G323R	possibly damaging	Het
Nbas	A	G	12: 13,532,577 (GRCm39)	T1762A	probably benign	Het
Ogfrl1	T	A	1: 23,409,194 (GRCm39)	H344L	probably benign	Het
Or13a25	T	A	7: 140,247,995 (GRCm39)	F265Y	possibly damaging	Het
Or5a1	T	A	19: 12,097,530 (GRCm39)	H182L	possibly damaging	Het
Or5p55	A	G	7: 107,566,957 (GRCm39)	M118V	possibly damaging	Het
Or9k7	A	C	10: 130,046,906 (GRCm39)	V31G	possibly damaging	Het
Orm2	G	A	4: 63,280,841 (GRCm39)		probably null	Het
Patj	T	A	4: 98,320,097 (GRCm39)	S455T	probably benign	Het
Pdgfra	G	T	5: 75,331,497 (GRCm39)	V336L	possibly damaging	Het
Prkaa1	T	C	15: 5,206,437 (GRCm39)	L431S	probably damaging	Het
Ptgfrn	A	G	3: 100,952,894 (GRCm39)	V780A	possibly damaging	Het
Rb1	A	T	14: 73,525,081 (GRCm39)	V184E	probably benign	Het
Rev1	T	A	1: 38,110,570 (GRCm39)	H560L	probably damaging	Het
Serpinb13	A	T	1: 106,928,504 (GRCm39)	R375*	probably null	Het
Slc8a2	C	A	7: 15,867,970 (GRCm39)	D67E	probably benign	Het
Sos2	A	T	12: 69,678,885 (GRCm39)	N307K	probably benign	Het
Srgap2	G	A	1: 131,226,206 (GRCm39)	R36W	probably damaging	Het
Tas2r119	G	T	15: 32,178,034 (GRCm39)	W200L	possibly damaging	Het
Tep1	T	G	14: 51,062,005 (GRCm39)	K2575T	probably benign	Het
Ttc36	T	A	9: 44,710,936 (GRCm39)	R131S	probably damaging	Het
Ttyh3	A	T	5: 140,620,979 (GRCm39)	L195Q	probably damaging	Het
Uba7	G	A	9: 107,857,382 (GRCm39)		probably null	Het
Utp20	A	C	10: 88,592,942 (GRCm39)	V2249G	probably damaging	Het
Wwc2	A	T	8: 48,340,197 (GRCm39)		probably null	Het
Zdhhc21	A	T	4: 82,765,911 (GRCm39)	V8D	probably damaging	Het
Zfp719	A	G	7: 43,239,290 (GRCm39)	T293A	probably benign	Het

Other mutations in Nr4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Nr4a1	APN	15	101,168,780 (GRCm39)	missense	probably damaging	1.00
IGL00966:Nr4a1	APN	15	101,170,669 (GRCm39)	missense	probably damaging	1.00
IGL01326:Nr4a1	APN	15	101,171,940 (GRCm39)	missense	probably damaging	1.00
R0539:Nr4a1	UTSW	15	101,168,765 (GRCm39)	missense	probably damaging	1.00
R1853:Nr4a1	UTSW	15	101,169,645 (GRCm39)	missense	probably benign	0.00
R1854:Nr4a1	UTSW	15	101,169,645 (GRCm39)	missense	probably benign	0.00
R1909:Nr4a1	UTSW	15	101,172,108 (GRCm39)	missense	probably damaging	1.00
R2073:Nr4a1	UTSW	15	101,171,948 (GRCm39)	missense	probably damaging	0.96
R2392:Nr4a1	UTSW	15	101,172,075 (GRCm39)	missense	possibly damaging	0.70
R2402:Nr4a1	UTSW	15	101,169,618 (GRCm39)	missense	probably damaging	0.98
R3001:Nr4a1	UTSW	15	101,168,853 (GRCm39)	splice site	probably null
R3002:Nr4a1	UTSW	15	101,168,853 (GRCm39)	splice site	probably null
R4190:Nr4a1	UTSW	15	101,171,993 (GRCm39)	missense	probably damaging	1.00
R5218:Nr4a1	UTSW	15	101,170,034 (GRCm39)	missense	probably benign	0.02
R7559:Nr4a1	UTSW	15	101,168,780 (GRCm39)	missense	probably damaging	1.00
R7910:Nr4a1	UTSW	15	101,169,641 (GRCm39)	missense	probably damaging	1.00
R8387:Nr4a1	UTSW	15	101,171,053 (GRCm39)	missense	probably damaging	0.98
R9428:Nr4a1	UTSW	15	101,168,245 (GRCm39)	missense	probably damaging	1.00
R9449:Nr4a1	UTSW	15	101,168,053 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATTGACCAGTCTGGACAGTG -3'
(R):5'- TAGGCTTAAAGGCACATGGG -3'

Sequencing Primer
(F):5'- AGTCTGGACAGTGGGCTC -3'
(R):5'- TGACAGAAGAGCACGCAC -3'

Posted On

2018-04-27