Mutagenetix > Incidental Mutation

Incidental Mutation 'R0078:Nr4a2'

158520

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

038365-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56996845-57014018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57002240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 8 (Y8C)

Ref Sequence

ENSEMBL: ENSMUSP00000138824 (fasta)

Gene Model

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

AlphaFold

Q06219

Predicted Effect

probably benign
Transcript: ENSMUST00000028166
AA Change: Y71C

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: Y71C

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: Y8C

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826
AA Change: Y8C

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 benign
Transcript: ENSMUST00000112629
AA Change: Y71C

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: Y71C

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 damaging
Transcript: ENSMUST00000183542
AA Change: Y8C

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

SMART Domains

Protein: ENSMUSP00000138824
Gene: ENSMUSG00000026826
AA Change: Y8C

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

0.3108

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.2%

Validation Efficiency

81% (203/250)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,891,129 (GRCm39)	Q456L	probably benign	Het
Abcf1	A	G	17: 36,268,954 (GRCm39)		probably benign	Het
Adamts7	A	T	9: 90,061,464 (GRCm39)	S357C	probably damaging	Het
Ankrd26	A	G	6: 118,512,030 (GRCm39)		probably benign	Het
Asb17	T	A	3: 153,550,301 (GRCm39)	V111E	probably damaging	Het
C1qtnf4	C	A	2: 90,719,893 (GRCm39)	N55K	probably damaging	Het
Cacng5	G	T	11: 107,768,259 (GRCm39)	D249E	probably benign	Het
Camkk2	C	A	5: 122,895,622 (GRCm39)		probably null	Het
Ccdc27	T	G	4: 154,120,195 (GRCm39)		probably benign	Het
Cfap251	G	A	5: 123,436,633 (GRCm39)	R1054H	probably benign	Het
Cngb1	T	A	8: 95,991,173 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,803,981 (GRCm39)		probably benign	Het
Corin	T	A	5: 72,611,816 (GRCm39)	D148V	possibly damaging	Het
Cstdc1	T	A	2: 148,627,745 (GRCm39)	*131K	probably null	Het
Defb26	A	C	2: 152,349,988 (GRCm39)	D97E	possibly damaging	Het
Dgkb	A	G	12: 38,186,540 (GRCm39)	N237D	probably benign	Het
Dsp	A	G	13: 38,379,993 (GRCm39)	N1647S	probably benign	Het
Dtna	G	A	18: 23,754,499 (GRCm39)	A438T	probably damaging	Het
Erbb3	G	T	10: 128,419,310 (GRCm39)	F219L	probably damaging	Het
EU599041	G	A	7: 42,875,275 (GRCm39)		noncoding transcript	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Fat4	T	C	3: 38,943,080 (GRCm39)	S658P	probably benign	Het
Fgfr2	C	T	7: 129,802,805 (GRCm39)	D168N	possibly damaging	Het
Fstl5	T	A	3: 76,566,952 (GRCm39)		probably benign	Het
Glmn	C	T	5: 107,705,836 (GRCm39)	V451I	probably benign	Het
Gm9938	T	A	19: 23,701,988 (GRCm39)		probably benign	Het
Gpat2	T	C	2: 127,270,169 (GRCm39)	S61P	probably damaging	Het
Gpr22	T	A	12: 31,761,640 (GRCm39)	M6L	probably benign	Het
Grm5	T	C	7: 87,724,185 (GRCm39)	L825P	probably damaging	Het
Gstz1	A	T	12: 87,206,477 (GRCm39)	I66F	probably benign	Het
H2-T22	A	G	17: 36,351,501 (GRCm39)	V243A	probably damaging	Het
H2-T5	A	T	17: 36,476,353 (GRCm39)	S304T	possibly damaging	Het
Hivep1	C	T	13: 42,309,517 (GRCm39)	L586F	probably damaging	Het
Hmcn2	T	G	2: 31,278,356 (GRCm39)	L1686R	probably damaging	Het
Ice1	T	C	13: 70,751,467 (GRCm39)	R1540G	probably damaging	Het
Igha	T	A	12: 113,223,547 (GRCm39)		probably benign	Het
Kif3a	C	A	11: 53,469,812 (GRCm39)	T141K	probably benign	Het
Knl1	G	A	2: 118,900,373 (GRCm39)	M691I	probably benign	Het
L3mbtl1	T	C	2: 162,789,146 (GRCm39)	V13A	probably benign	Het
Lamc1	T	A	1: 153,104,936 (GRCm39)	N1282I	probably damaging	Het
Lemd2	G	T	17: 27,422,702 (GRCm39)	L231I	probably benign	Het
Lrrk2	G	A	15: 91,618,212 (GRCm39)	V904M	probably benign	Het
Lyzl6	C	T	11: 103,524,795 (GRCm39)	S103N	probably benign	Het
Macf1	T	A	4: 123,367,661 (GRCm39)	R2367W	probably damaging	Het
Mapk3	T	C	7: 126,358,977 (GRCm39)	Y54H	probably damaging	Het
Mlh3	A	T	12: 85,315,592 (GRCm39)	V198D	probably damaging	Het
Myocd	T	C	11: 65,078,290 (GRCm39)	S374G	possibly damaging	Het
Ngef	T	C	1: 87,468,387 (GRCm39)	E124G	probably benign	Het
Nhsl3	T	C	4: 129,121,516 (GRCm39)		probably null	Het
Nynrin	T	A	14: 56,100,789 (GRCm39)	V193D	probably damaging	Het
Or10ak9	T	A	4: 118,726,424 (GRCm39)	S148T	probably benign	Het
Or10w1	G	T	19: 13,632,179 (GRCm39)	V129F	probably benign	Het
Or1p1	A	T	11: 74,180,092 (GRCm39)	I207F	probably damaging	Het
Or4k36	A	T	2: 111,146,249 (GRCm39)	I142F	probably benign	Het
Or6d15	A	G	6: 116,559,701 (GRCm39)	S69P	probably damaging	Het
Pcdh18	T	C	3: 49,710,793 (GRCm39)	Y174C	probably damaging	Het
Pcf11	T	C	7: 92,318,767 (GRCm39)	D21G	possibly damaging	Het
Pdia4	A	C	6: 47,775,344 (GRCm39)	F489V	possibly damaging	Het
Pitrm1	C	T	13: 6,625,068 (GRCm39)	P849S	probably damaging	Het
Plcz1	T	C	6: 139,935,510 (GRCm39)	Y644C	probably damaging	Het
Ppp5c	T	C	7: 16,761,650 (GRCm39)	E28G	probably benign	Het
Prkcb	A	G	7: 122,189,393 (GRCm39)	Y507C	probably damaging	Het
Rims2	A	G	15: 39,398,251 (GRCm39)	D1072G	probably benign	Het
Scarf1	A	G	11: 75,405,988 (GRCm39)		probably benign	Het
Scoc	T	A	8: 84,184,887 (GRCm39)		probably null	Het
Sh2d4a	A	T	8: 68,734,973 (GRCm39)	M31L	probably damaging	Het
Spta1	T	A	1: 174,034,598 (GRCm39)		probably benign	Het
Stard7	A	G	2: 127,134,127 (GRCm39)	Y270C	probably damaging	Het
Svs3b	T	C	2: 164,097,881 (GRCm39)	T147A	probably benign	Het
Tmtc3	A	G	10: 100,284,823 (GRCm39)	L604P	probably damaging	Het
Trim30b	A	T	7: 104,015,102 (GRCm39)	N95K	probably benign	Het
Trpm8	C	A	1: 88,255,870 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 127,943,448 (GRCm39)		probably null	Het
Tubgcp5	C	T	7: 55,468,643 (GRCm39)	R713C	probably damaging	Het
Tyro3	A	T	2: 119,647,487 (GRCm39)	Q872L	probably damaging	Het
Vmn1r204	G	A	13: 22,740,379 (GRCm39)	M3I	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdfy3	A	G	5: 102,035,971 (GRCm39)	I2149T	possibly damaging	Het
Zfp668	A	T	7: 127,467,210 (GRCm39)	M122K	possibly damaging	Het
Zkscan1	A	T	5: 138,091,363 (GRCm39)	D32V	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
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
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'- TGTAGTAAACCGACCCGCTGTGTG -3'
(R):5'- GAGTGTAGACCCTCAACAGCTTTCC -3'

Sequencing Primer
(F):5'- GTGGCATCATCTCCTCGGAC -3'
(R):5'- GACCAGGCTGAGTGTATATCACC -3'

Posted On

2014-03-11