Mutagenetix > Incidental Mutation

Incidental Mutation 'R2392:Nr4a1'

247832

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

040360-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101152150-101172676 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101172075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 583 (D583G)

Ref Sequence

ENSEMBL: ENSMUSP00000155225 (fasta)

Gene Model

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

AlphaFold

P12813

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023779
AA Change: D583G

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023779
Gene: ENSMUSG00000023034
AA Change: D583G

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

possibly damaging
Transcript: ENSMUST00000228985
AA Change: D583G

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000230814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231153

Meta Mutation Damage Score

0.3932

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,297,264 (GRCm39)	S2409T	probably damaging	Het
Acap2	A	G	16: 30,958,458 (GRCm39)	F120S	probably damaging	Het
Akr1c6	A	G	13: 4,484,477 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,963,573 (GRCm39)	A1874S	probably damaging	Het
Ccnl1	A	G	3: 65,856,173 (GRCm39)	V244A	probably damaging	Het
Cenpe	T	G	3: 134,953,874 (GRCm39)	L1628R	probably damaging	Het
Cfap54	A	G	10: 92,860,873 (GRCm39)		probably null	Het
Chchd7	T	A	4: 3,943,381 (GRCm39)		probably null	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crybg2	G	T	4: 133,799,925 (GRCm39)	V362L	probably benign	Het
Ddx11	T	A	17: 66,456,968 (GRCm39)	V791E	probably damaging	Het
Disp1	G	A	1: 182,868,731 (GRCm39)	P1230S	probably benign	Het
Elp5	T	C	11: 69,865,928 (GRCm39)	H116R	probably benign	Het
Epb42	T	C	2: 120,860,468 (GRCm39)	E177G	possibly damaging	Het
F13a1	T	A	13: 37,127,971 (GRCm39)	I336F	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcsk	A	G	8: 111,616,356 (GRCm39)	M453T	probably benign	Het
Hacd2	A	T	16: 34,926,748 (GRCm39)	E249V	probably benign	Het
Hnrnpf	C	A	6: 117,901,829 (GRCm39)	A371D	possibly damaging	Het
Jmjd1c	A	G	10: 67,065,683 (GRCm39)	T1703A	probably damaging	Het
Kcnj13	G	A	1: 87,314,622 (GRCm39)	T200I	possibly damaging	Het
Kif1b	G	A	4: 149,305,077 (GRCm39)	T949M	possibly damaging	Het
Klhl35	G	A	7: 99,123,031 (GRCm39)	A552T	possibly damaging	Het
Krt74	A	G	15: 101,665,236 (GRCm39)		noncoding transcript	Het
Krtap14	T	A	16: 88,622,597 (GRCm39)		probably null	Het
Lrrc45	A	G	11: 120,610,365 (GRCm39)	N492S	probably benign	Het
Lrrcc1	T	A	3: 14,601,580 (GRCm39)	N114K	probably damaging	Het
Mfsd2b	T	C	12: 4,915,164 (GRCm39)	D375G	possibly damaging	Het
Mgat4a	A	G	1: 37,537,785 (GRCm39)	L44P	probably damaging	Het
Mttp	A	C	3: 137,800,782 (GRCm39)	D774E	probably damaging	Het
Myo5a	T	C	9: 75,116,521 (GRCm39)	V1554A	probably benign	Het
Nes	C	T	3: 87,883,250 (GRCm39)	A503V	probably benign	Het
Nme8	A	G	13: 19,873,113 (GRCm39)		probably null	Het
Or12d17	A	G	17: 37,777,310 (GRCm39)	Y71C	probably damaging	Het
Or5k14	A	G	16: 58,692,797 (GRCm39)	S239P	probably damaging	Het
Pnpla8	T	A	12: 44,358,287 (GRCm39)	L746I	probably damaging	Het
Ppp1r7	A	T	1: 93,282,063 (GRCm39)	I205F	probably benign	Het
Psd4	C	A	2: 24,284,679 (GRCm39)	P181Q	probably damaging	Het
Ripor2	G	A	13: 24,890,206 (GRCm39)	V694I	probably benign	Het
Scn10a	A	G	9: 119,456,268 (GRCm39)	S1185P	possibly damaging	Het
Sec23b	T	A	2: 144,427,507 (GRCm39)		probably null	Het
Slfn2	A	G	11: 82,956,154 (GRCm39)	N12S	possibly damaging	Het
Slfn4	A	G	11: 83,076,248 (GRCm39)	K38R	possibly damaging	Het
Smarca2	G	T	19: 26,618,050 (GRCm39)		probably null	Het
Taar4	A	G	10: 23,837,172 (GRCm39)	T261A	possibly damaging	Het
Tbl2	A	G	5: 135,185,368 (GRCm39)	D159G	probably benign	Het
Tmem120a	T	C	5: 135,770,892 (GRCm39)	E55G	probably damaging	Het
Ttc21b	A	G	2: 66,037,794 (GRCm39)		probably null	Het
Vill	A	T	9: 118,896,628 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,487,130 (GRCm39)	M511K	probably damaging	Het
Vmn2r81	A	T	10: 79,110,516 (GRCm39)	D543V	probably damaging	Het
Wdr95	A	G	5: 149,504,135 (GRCm39)	T314A	probably benign	Het
Zbtb8b	A	G	4: 129,326,982 (GRCm39)	I61T	probably damaging	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
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
R6363:Nr4a1	UTSW	15	101,171,996 (GRCm39)	missense	probably damaging	1.00
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'- TGGAAGAGCTGCAGAATCGC -3'
(R):5'- TAAGACAAATAGTGGGGTCACC -3'

Sequencing Primer
(F):5'- TGCAGAATCGCATTGCTAGC -3'
(R):5'- GAGGTACGTCAGTCTTAGCTCAAAAC -3'

Posted On

2014-11-11