Mutagenetix > Incidental Mutations

Incidental Mutation 'R7596:Nr4a2'

587704

Institutional Source

Beutler Lab

Gene Symbol

Nr4a2

Ensembl Gene

ENSMUSG00000026826

Gene Name

nuclear receptor subfamily 4, group A, member 2

Synonyms

RNR-1, HZF-3, Nurr1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7596 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57106830-57124003 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 57108231 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 574 (F574L)

Ref Sequence

ENSEMBL: ENSMUSP00000028166 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028166
AA Change: F574L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: F574L

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 damaging
Transcript: ENSMUST00000112627
AA Change: F511L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826
AA Change: F511L

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: F574L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: F574L

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: 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	A	16: 88,759,336	S146N	probably damaging	Het
Adam26b	A	C	8: 43,520,200	D588E	probably benign	Het
Ankrd13b	C	A	11: 77,472,314	R547L	probably benign	Het
Bckdk	G	T	7: 127,906,400	E232*	probably null	Het
C8a	T	C	4: 104,853,867	K244E	possibly damaging	Het
Cad	A	G	5: 31,069,048	I1145V	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Cd28	C	A	1: 60,763,328	H135Q	possibly damaging	Het
Ceacam19	A	G	7: 19,881,887	I209T	possibly damaging	Het
Cecr2	A	G	6: 120,762,206	N1298S	probably benign	Het
Cpne5	C	T	17: 29,226,217	D38N	possibly damaging	Het
Dcn	A	T	10: 97,510,009	I228F	probably damaging	Het
Gm10696	T	A	3: 94,176,430	T25S	probably benign	Het
Gm5591	T	G	7: 38,520,184	I422L	probably benign	Het
Gnptab	T	G	10: 88,443,370	F1201V	probably damaging	Het
Hc	A	G	2: 35,000,847	V1319A	probably damaging	Het
Htr3b	T	C	9: 48,936,061	N385D	probably benign	Het
Ikbip	A	T	10: 91,083,029		probably benign	Het
Kcnk1	T	C	8: 125,995,611	L51P	probably damaging	Het
Lcn2	A	G	2: 32,385,709	Y160H	probably damaging	Het
Lig1	T	C	7: 13,305,998	S712P	probably damaging	Het
Lrrc19	T	G	4: 94,643,355	M7L	probably benign	Het
Lrrc4b	C	T	7: 44,461,886	T394M	probably damaging	Het
Map7	A	G	10: 20,278,181	N681S	unknown	Het
Mdga2	A	T	12: 66,506,123	M912K	probably damaging	Het
Mlst8	C	T	17: 24,478,110		probably null	Het
Ms4a13	A	T	19: 11,169,965	V195D	unknown	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Nup107	T	C	10: 117,777,160	N288D	probably damaging	Het
Olfr1469	C	T	19: 13,411,147	H193Y	probably benign	Het
Olfr211	T	A	6: 116,494,197	V196D	probably benign	Het
Olfr742	A	T	14: 50,515,545	T114S	probably benign	Het
Pcolce	A	G	5: 137,606,825		probably null	Het
Pik3cg	A	G	12: 32,204,741	F416L	probably damaging	Het
Podnl1	A	G	8: 84,126,395	I65V		Het
Prpf8	T	C	11: 75,491,504	F387S	probably benign	Het
Rev3l	A	G	10: 39,821,538	Y677C	probably damaging	Het
Rhpn1	A	G	15: 75,712,313	T430A	probably benign	Het
Rnf187	T	C	11: 58,938,415	R124G	possibly damaging	Het
Rpl9-ps6	C	T	19: 32,466,383	V57I	probably benign	Het
Samhd1	A	T	2: 157,101,834	F587I	probably damaging	Het
Slc30a6	A	G	17: 74,415,669	T244A	probably benign	Het
Slc35f4	T	A	14: 49,306,209	Y310F	probably damaging	Het
Smarcc2	A	G	10: 128,482,793	Y648C	probably damaging	Het
Smc5	A	C	19: 23,214,169	V889G	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C		Het
Tango2	A	G	16: 18,302,710	V229A	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,713	T995A	probably benign	Het
Trio	A	T	15: 27,749,826	I2263N	probably damaging	Het
Ttc28	T	C	5: 111,280,124	F1829L	probably damaging	Het
Ttn	A	G	2: 76,808,579	S13920P	probably damaging	Het
Ube2b	T	C	11: 51,986,743	N133S	probably damaging	Het
Ubn1	T	A	16: 5,081,558	H1055Q	probably benign	Het
Ubtf	G	A	11: 102,306,707	T705M	unknown	Het
Vmn2r109	A	T	17: 20,540,680	M805K	probably damaging	Het
Vsig10	T	C	5: 117,334,783	V147A	possibly damaging	Het
Zbtb16	C	A	9: 48,832,404	V203L	possibly damaging	Het

Other mutations in Nr4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Nr4a2	APN	2	57109217	missense	probably damaging	1.00
IGL01148:Nr4a2	APN	2	57111971	missense	probably benign	0.00
IGL01395:Nr4a2	APN	2	57112153	missense	probably damaging	0.98
IGL02123:Nr4a2	APN	2	57111655	missense	possibly damaging	0.95
IGL02311:Nr4a2	APN	2	57111731	missense	probably benign
IGL02698:Nr4a2	APN	2	57108160	missense	probably damaging	1.00
IGL03178:Nr4a2	APN	2	57110766	missense	probably damaging	1.00
IGL03261:Nr4a2	APN	2	57110187	missense	probably benign	0.40
R0025:Nr4a2	UTSW	2	57108615	missense	probably benign	0.14
R0078:Nr4a2	UTSW	2	57112228	missense	probably damaging	1.00
R1138:Nr4a2	UTSW	2	57112379	missense	probably damaging	0.96
R1222:Nr4a2	UTSW	2	57108324	missense	probably damaging	0.97
R1418:Nr4a2	UTSW	2	57108324	missense	probably damaging	0.97
R1755:Nr4a2	UTSW	2	57109092	missense	probably damaging	1.00
R2265:Nr4a2	UTSW	2	57112006	missense	possibly damaging	0.77
R2266:Nr4a2	UTSW	2	57112006	missense	possibly damaging	0.77
R2267:Nr4a2	UTSW	2	57112006	missense	possibly damaging	0.77
R2281:Nr4a2	UTSW	2	57112199	missense	probably benign	0.00
R4191:Nr4a2	UTSW	2	57112379	missense	probably damaging	0.96
R4706:Nr4a2	UTSW	2	57112213	missense	probably damaging	1.00
R4707:Nr4a2	UTSW	2	57112093	missense	probably benign	0.17
R4745:Nr4a2	UTSW	2	57110151	missense	probably damaging	1.00
R4924:Nr4a2	UTSW	2	57112023	missense	probably benign	0.00
R5350:Nr4a2	UTSW	2	57111865	missense	probably damaging	0.98
R5495:Nr4a2	UTSW	2	57112375	missense	probably damaging	1.00
R6139:Nr4a2	UTSW	2	57108689	missense	probably damaging	0.98
R6156:Nr4a2	UTSW	2	57112352	missense	probably damaging	1.00
R6325:Nr4a2	UTSW	2	57112418	missense	probably damaging	1.00
R6674:Nr4a2	UTSW	2	57112424	missense	probably damaging	1.00
R6786:Nr4a2	UTSW	2	57111908	missense	probably benign	0.29
R6968:Nr4a2	UTSW	2	57108746	splice site	probably null
R7135:Nr4a2	UTSW	2	57112249	missense	possibly damaging	0.80
R7256:Nr4a2	UTSW	2	57112369	missense	probably damaging	1.00
R7495:Nr4a2	UTSW	2	57112159	missense	possibly damaging	0.89
R7733:Nr4a2	UTSW	2	57112321	missense	probably benign	0.01
R7812:Nr4a2	UTSW	2	57112418	missense	probably damaging	1.00
Z1088:Nr4a2	UTSW	2	57111614	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACACTTCAACCAGCTCTC -3'
(R):5'- CATGGCTTTCCCTAATCGCAG -3'

Sequencing Primer
(F):5'- TCTGCCCATGTGACCAGC -3'
(R):5'- CATTTTCTGCAGAGAGACACG -3'

Posted On

2019-10-24