Mutagenetix > Incidental Mutation

Incidental Mutation 'R6156:Nr4a2'

489561

Institutional Source

Beutler Lab

Gene Symbol

Nr4a2

Ensembl Gene

ENSMUSG00000026826

Gene Name

nuclear receptor subfamily 4, group A, member 2

Synonyms

HZF-3, Nurr1, RNR-1

MMRRC Submission

044303-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56996845-57014018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57002364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 30 (Y30H)

Ref Sequence

ENSEMBL: ENSMUSP00000108248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028166] [ENSMUST00000112627] [ENSMUST00000112629] [ENSMUST00000183542]

AlphaFold

Q06219

Predicted Effect

probably damaging
Transcript: ENSMUST00000028166
AA Change: Y30H

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

SMART Domains

Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: Y30H

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	124	134	N/A	INTRINSIC
ZnF_C4	260	331	2.45e-39	SMART
low complexity region	346	363	N/A	INTRINSIC
HOLI	408	566	1.03e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112627

SMART Domains

Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826

Domain	Start	End	E-Value	Type
low complexity region	61	71	N/A	INTRINSIC
ZnF_C4	197	268	2.45e-39	SMART
low complexity region	283	300	N/A	INTRINSIC
HOLI	345	503	1.03e-32	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112629
AA Change: Y30H

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

SMART Domains

Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: Y30H

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	124	134	N/A	INTRINSIC
ZnF_C4	260	331	2.45e-39	SMART
low complexity region	346	363	N/A	INTRINSIC
HOLI	408	566	1.03e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140165

Predicted Effect

probably benign
Transcript: ENSMUST00000183542

SMART Domains

Protein: ENSMUSP00000138824
Gene: ENSMUSG00000026826

Domain	Start	End	E-Value	Type
low complexity region	61	71	N/A	INTRINSIC
ZnF_C4	197	268	2.45e-39	SMART
low complexity region	283	300	N/A	INTRINSIC
Pfam:Hormone_recep	322	392	9.1e-8	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

97% (68/70)

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. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene fail to develop dopaminergic neurons in the mesencephalon and die within the first 12 hours of life. Heterozygotes suffer from reduced motor performance in old age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,689,488 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,737,886 (GRCm39)	D2579G	probably damaging	Het
Atp6v1b1	G	C	6: 83,735,115 (GRCm39)	G423R	probably damaging	Het
B4galnt3	T	C	6: 120,191,801 (GRCm39)	N644S	probably benign	Het
Bhmt1b	C	A	18: 87,775,231 (GRCm39)	Y251*	probably null	Het
Capsl	T	G	15: 9,465,920 (GRCm39)	M132R	probably damaging	Het
Cep120	A	G	18: 53,836,295 (GRCm39)	Y797H	probably benign	Het
Cimip4	T	C	15: 78,263,013 (GRCm39)	T214A	probably damaging	Het
Clec2e	T	A	6: 129,072,061 (GRCm39)	D106V	possibly damaging	Het
Col6a2	C	T	10: 76,440,004 (GRCm39)	V634I	possibly damaging	Het
Dis3	T	C	14: 99,336,215 (GRCm39)	E97G	probably benign	Het
Dlec1	T	C	9: 118,939,281 (GRCm39)		probably null	Het
Dock2	C	A	11: 34,197,789 (GRCm39)	V1484F	possibly damaging	Het
Ephb2	T	A	4: 136,388,816 (GRCm39)	M593L	probably benign	Het
Fcgrt	T	C	7: 44,751,484 (GRCm39)	T125A	probably benign	Het
Gabbr1	T	C	17: 37,359,319 (GRCm39)	I98T	probably benign	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gfod1	T	C	13: 43,354,514 (GRCm39)	S154G	possibly damaging	Het
Ggt5	C	T	10: 75,445,160 (GRCm39)	T389I	probably damaging	Het
Got2	A	G	8: 96,598,896 (GRCm39)	F169L	probably benign	Het
Gse1	A	G	8: 121,215,866 (GRCm39)	K5E	possibly damaging	Het
Hyal5	T	C	6: 24,891,437 (GRCm39)	I417T	possibly damaging	Het
Igkv4-91	G	T	6: 68,745,607 (GRCm39)	T97K	probably damaging	Het
Il4i1	T	C	7: 44,489,608 (GRCm39)	Y458H	possibly damaging	Het
Impg1	A	T	9: 80,230,106 (GRCm39)	C740S	probably damaging	Het
Itgb1	C	G	8: 129,458,535 (GRCm39)	T788R	possibly damaging	Het
Lman2l	A	G	1: 36,477,907 (GRCm39)	V143A	probably damaging	Het
Ltbp4	G	T	7: 27,029,587 (GRCm39)	T136K	unknown	Het
Macf1	A	G	4: 123,366,073 (GRCm39)	I1331T	probably benign	Het
Mmp11	G	A	10: 75,762,325 (GRCm39)	A336V	probably damaging	Het
Myh2	A	T	11: 67,071,879 (GRCm39)	I536F	probably damaging	Het
Myh4	A	G	11: 67,141,618 (GRCm39)	M826V	probably benign	Het
Naca	T	C	10: 127,875,160 (GRCm39)		probably benign	Het
Or12j4	A	G	7: 140,046,758 (GRCm39)	T215A	probably benign	Het
Or1e35	A	T	11: 73,797,447 (GRCm39)	Y290*	probably null	Het
Or2n1d	T	A	17: 38,646,064 (GRCm39)	N5K	probably damaging	Het
Or4a67	T	A	2: 88,597,934 (GRCm39)	I242L	probably benign	Het
Or4f14d	A	T	2: 111,960,445 (GRCm39)	L237Q	probably damaging	Het
Or4k42	A	T	2: 111,320,095 (GRCm39)	M136K	probably damaging	Het
Or4z4	A	G	19: 12,076,484 (GRCm39)	V173A	possibly damaging	Het
Or8g22	T	A	9: 38,958,671 (GRCm39)	M15L	possibly damaging	Het
Paqr3	A	C	5: 97,256,128 (GRCm39)	L82R	probably damaging	Het
Pex6	C	T	17: 47,031,567 (GRCm39)	P456S	probably benign	Het
Pih1d2	A	T	9: 50,532,452 (GRCm39)	K186I	possibly damaging	Het
Plekhh3	A	G	11: 101,061,013 (GRCm39)		probably benign	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Rcor3	T	A	1: 191,812,142 (GRCm39)		probably benign	Het
Rgs11	T	A	17: 26,429,439 (GRCm39)	Y403*	probably null	Het
Scn10a	T	C	9: 119,464,649 (GRCm39)	N984D	probably benign	Het
Snx14	C	T	9: 88,289,392 (GRCm39)	A287T	possibly damaging	Het
Stx3	T	C	19: 11,780,874 (GRCm39)	D33G	probably damaging	Het
Tacc2	A	G	7: 130,227,494 (GRCm39)	K1393R	probably damaging	Het
Tas2r129	T	C	6: 132,928,455 (GRCm39)	S131P	probably benign	Het
Tbx15	G	T	3: 99,220,431 (GRCm39)		probably null	Het
Thada	A	G	17: 84,700,795 (GRCm39)	V1237A	probably damaging	Het
Tnc	A	G	4: 63,888,589 (GRCm39)	Y1735H	probably damaging	Het
Ttc22	A	G	4: 106,495,780 (GRCm39)	K378R	probably benign	Het
Tubg2	A	G	11: 101,051,635 (GRCm39)	K287E	possibly damaging	Het
Ugt3a1	T	C	15: 9,310,762 (GRCm39)	I348T	possibly damaging	Het
Unc79	A	G	12: 103,027,717 (GRCm39)	N436S	probably damaging	Het
Unc80	A	T	1: 66,651,409 (GRCm39)	I1585F	probably benign	Het
Vmn2r104	T	C	17: 20,261,909 (GRCm39)	Y407C	probably damaging	Het
Vmn2r108	T	A	17: 20,692,447 (GRCm39)	L136F	probably benign	Het
Vmn2r38	A	G	7: 9,097,611 (GRCm39)	S161P	probably damaging	Het
Vmn2r90	T	C	17: 17,953,606 (GRCm39)	I590T	probably benign	Het
Washc5	T	C	15: 59,217,248 (GRCm39)	E323G	probably damaging	Het
Wdhd1	C	T	14: 47,505,653 (GRCm39)	G273D	probably damaging	Het
Xpo6	G	T	7: 125,708,016 (GRCm39)	Q851K	probably damaging	Het
Zfp386	T	C	12: 116,023,526 (GRCm39)	S380P	probably damaging	Het
Zfp536	A	G	7: 37,173,281 (GRCm39)	C274R	unknown	Het
Zfp64	A	G	2: 168,768,088 (GRCm39)	I508T	probably benign	Het

Other mutations in Nr4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Nr4a2	APN	2	56,999,229 (GRCm39)	missense	probably damaging	1.00
IGL01148:Nr4a2	APN	2	57,001,983 (GRCm39)	missense	probably benign	0.00
IGL01395:Nr4a2	APN	2	57,002,165 (GRCm39)	missense	probably damaging	0.98
IGL02123:Nr4a2	APN	2	57,001,667 (GRCm39)	missense	possibly damaging	0.95
IGL02311:Nr4a2	APN	2	57,001,743 (GRCm39)	missense	probably benign
IGL02698:Nr4a2	APN	2	56,998,172 (GRCm39)	missense	probably damaging	1.00
IGL03178:Nr4a2	APN	2	57,000,778 (GRCm39)	missense	probably damaging	1.00
IGL03261:Nr4a2	APN	2	57,000,199 (GRCm39)	missense	probably benign	0.40
R0025:Nr4a2	UTSW	2	56,998,627 (GRCm39)	missense	probably benign	0.14
R0078:Nr4a2	UTSW	2	57,002,240 (GRCm39)	missense	probably damaging	1.00
R1138:Nr4a2	UTSW	2	57,002,391 (GRCm39)	missense	probably damaging	0.96
R1222:Nr4a2	UTSW	2	56,998,336 (GRCm39)	missense	probably damaging	0.97
R1418:Nr4a2	UTSW	2	56,998,336 (GRCm39)	missense	probably damaging	0.97
R1755:Nr4a2	UTSW	2	56,999,104 (GRCm39)	missense	probably damaging	1.00
R2265:Nr4a2	UTSW	2	57,002,018 (GRCm39)	missense	possibly damaging	0.77
R2266:Nr4a2	UTSW	2	57,002,018 (GRCm39)	missense	possibly damaging	0.77
R2267:Nr4a2	UTSW	2	57,002,018 (GRCm39)	missense	possibly damaging	0.77
R2281:Nr4a2	UTSW	2	57,002,211 (GRCm39)	missense	probably benign	0.00
R4191:Nr4a2	UTSW	2	57,002,391 (GRCm39)	missense	probably damaging	0.96
R4706:Nr4a2	UTSW	2	57,002,225 (GRCm39)	missense	probably damaging	1.00
R4707:Nr4a2	UTSW	2	57,002,105 (GRCm39)	missense	probably benign	0.17
R4745:Nr4a2	UTSW	2	57,000,163 (GRCm39)	missense	probably damaging	1.00
R4924:Nr4a2	UTSW	2	57,002,035 (GRCm39)	missense	probably benign	0.00
R5350:Nr4a2	UTSW	2	57,001,877 (GRCm39)	missense	probably damaging	0.98
R5495:Nr4a2	UTSW	2	57,002,387 (GRCm39)	missense	probably damaging	1.00
R6139:Nr4a2	UTSW	2	56,998,701 (GRCm39)	missense	probably damaging	0.98
R6325:Nr4a2	UTSW	2	57,002,430 (GRCm39)	missense	probably damaging	1.00
R6674:Nr4a2	UTSW	2	57,002,436 (GRCm39)	missense	probably damaging	1.00
R6786:Nr4a2	UTSW	2	57,001,920 (GRCm39)	missense	probably benign	0.29
R6968:Nr4a2	UTSW	2	56,998,758 (GRCm39)	splice site	probably null
R7135:Nr4a2	UTSW	2	57,002,261 (GRCm39)	missense	possibly damaging	0.80
R7256:Nr4a2	UTSW	2	57,002,381 (GRCm39)	missense	probably damaging	1.00
R7495:Nr4a2	UTSW	2	57,002,171 (GRCm39)	missense	possibly damaging	0.89
R7596:Nr4a2	UTSW	2	56,998,243 (GRCm39)	missense	probably damaging	1.00
R7733:Nr4a2	UTSW	2	57,002,333 (GRCm39)	missense	probably benign	0.01
R7812:Nr4a2	UTSW	2	57,002,430 (GRCm39)	missense	probably damaging	1.00
R9058:Nr4a2	UTSW	2	57,002,255 (GRCm39)	missense	probably benign	0.26
R9208:Nr4a2	UTSW	2	56,999,093 (GRCm39)	missense	probably damaging	1.00
R9471:Nr4a2	UTSW	2	57,002,114 (GRCm39)	missense	probably benign	0.01
R9564:Nr4a2	UTSW	2	57,000,190 (GRCm39)	missense	probably damaging	1.00
Z1088:Nr4a2	UTSW	2	57,001,626 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTAATGGAGGACTGCTGTC -3'
(R):5'- TAGACCCTCAACAGCTTTCCAG -3'

Sequencing Primer
(F):5'- TCCGGACAGGGGCATTTG -3'
(R):5'- TCGTCCCGGGATCAGCC -3'

Posted On

2017-10-10