Mutagenetix > Incidental Mutation

Incidental Mutation 'R1418:Nr4a2'

159885

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

039474-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56996845-57014018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56998336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 543 (N543K)

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: N543K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: N543K

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

possibly damaging
Transcript: ENSMUST00000112627
AA Change: N480K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826
AA Change: N480K

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: N543K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: N543K

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

Meta Mutation Damage Score

0.1101

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

97% (92/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Abtb3	C	A	10: 85,481,442 (GRCm39)	T948K	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Alb	A	G	5: 90,612,061 (GRCm39)		probably benign	Het
Arnt	A	G	3: 95,377,710 (GRCm39)		probably benign	Het
Asap2	A	C	12: 21,289,586 (GRCm39)	N501H	probably damaging	Het
Asap2	A	G	12: 21,289,590 (GRCm39)	E499G	probably damaging	Het
Atp5f1b	C	T	10: 127,919,167 (GRCm39)		probably benign	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
AW554918	T	G	18: 25,472,756 (GRCm39)		probably null	Het
Bhmt1b	A	G	18: 87,775,458 (GRCm39)	K327R	probably damaging	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Bod1l	G	A	5: 41,976,814 (GRCm39)	T1500I	probably damaging	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dnah17	T	A	11: 117,964,849 (GRCm39)	N2365Y	probably damaging	Het
Dnah7a	T	A	1: 53,686,395 (GRCm39)		probably benign	Het
Dnajc16	G	T	4: 141,495,052 (GRCm39)	S520*	probably null	Het
Dsg1b	G	T	18: 20,530,487 (GRCm39)	E381*	probably null	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Epn2	A	G	11: 61,413,912 (GRCm39)	S419P	probably benign	Het
Fat4	T	C	3: 38,944,962 (GRCm39)	I1285T	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gnas	C	T	2: 174,187,007 (GRCm39)		probably benign	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Hsd17b4	G	T	18: 50,263,254 (GRCm39)		probably benign	Het
Kmt2b	A	G	7: 30,276,385 (GRCm39)		probably benign	Het
Lrch1	T	C	14: 75,041,709 (GRCm39)		probably benign	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mroh8	G	A	2: 157,083,774 (GRCm39)		probably benign	Het
Mtch2	A	T	2: 90,683,359 (GRCm39)		probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Mug1	C	T	6: 121,815,635 (GRCm39)	S13L	probably benign	Het
Naa25	T	G	5: 121,561,797 (GRCm39)	L450R	probably damaging	Het
Nrp2	C	T	1: 62,822,491 (GRCm39)	R695*	probably null	Het
Or10ag53	G	T	2: 87,082,766 (GRCm39)	G162C	probably benign	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or2z9	T	C	8: 72,854,231 (GRCm39)	L209P	probably damaging	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Pclo	A	T	5: 14,728,144 (GRCm39)		probably benign	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Pkn3	T	A	2: 29,973,059 (GRCm39)	V323E	probably damaging	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plekhg4	G	A	8: 106,105,742 (GRCm39)	A736T	probably benign	Het
Plppr2	C	T	9: 21,859,085 (GRCm39)	P401S	possibly damaging	Het
Poln	A	G	5: 34,236,319 (GRCm39)	V604A	probably benign	Het
Pramel21	T	A	4: 143,342,604 (GRCm39)	I237K	probably benign	Het
Prkd2	A	G	7: 16,603,470 (GRCm39)	D800G	probably benign	Het
Ptprb	A	G	10: 116,155,375 (GRCm39)	T710A	probably benign	Het
Qrfpr	C	A	3: 36,234,244 (GRCm39)	G366W	probably damaging	Het
Qser1	C	A	2: 104,607,776 (GRCm39)	A1471S	probably damaging	Het
Ralbp1	A	T	17: 66,166,143 (GRCm39)		probably benign	Het
Rars1	A	T	11: 35,700,567 (GRCm39)	Y505N	probably damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Smcr8	T	C	11: 60,668,858 (GRCm39)	I2T	probably damaging	Het
Smtnl2	T	C	11: 72,292,247 (GRCm39)	T301A	probably damaging	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Szt2	A	T	4: 118,244,976 (GRCm39)	S1187T	probably benign	Het
Tdo2	A	G	3: 81,868,775 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,680 (GRCm39)	M405L	possibly damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tmem132b	C	A	5: 125,715,313 (GRCm39)	Q341K	probably benign	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Trim45	G	T	3: 100,834,614 (GRCm39)	M432I	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Utrn	C	T	10: 12,589,094 (GRCm39)	V871I	probably benign	Het
Vat1l	T	C	8: 115,009,101 (GRCm39)		probably benign	Het
Vmn1r205	T	C	13: 22,777,049 (GRCm39)	K18E	probably benign	Het
Zfp518a	T	A	19: 40,902,803 (GRCm39)	Y911N	probably damaging	Het
Zfyve28	A	G	5: 34,374,590 (GRCm39)	C475R	probably damaging	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
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
R6156:Nr4a2	UTSW	2	57,002,364 (GRCm39)	missense	probably damaging	1.00
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'- TCCGTTTTCTAAATCCAGGATGCCC -3'
(R):5'- AGTACTGCTGGTGCAGGACACTTC -3'

Sequencing Primer
(F):5'- GTGgtttgtttgtttgtttgtttAC -3'
(R):5'- GAACTTCCTCTGGTGGGAC -3'

Posted On

2014-03-14