Mutagenetix > Incidental Mutation

Incidental Mutation 'R4745:Nr4a2'

356624

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

042028-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56996845-57014018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57000163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 311 (D311V)

Ref Sequence

ENSEMBL: ENSMUSP00000138824 (fasta)

Gene Model

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

AlphaFold

Q06219

Predicted Effect

probably damaging
Transcript: ENSMUST00000028166
AA Change: D374V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: D374V

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: D311V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826
AA Change: D311V

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: D374V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: D374V

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: D311V

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

SMART Domains

Protein: ENSMUSP00000138824
Gene: ENSMUSG00000026826
AA Change: D311V

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

0.4341

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,526,427 (GRCm39)	Y619C	probably damaging	Het
Adck1	A	G	12: 88,368,949 (GRCm39)		probably null	Het
Agap3	A	C	5: 24,656,123 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,782,566 (GRCm39)	H354Q	probably damaging	Het
Ankrd29	T	G	18: 12,387,679 (GRCm39)	N301T	probably benign	Het
Arhgef4	A	G	1: 34,846,356 (GRCm39)	T379A	probably damaging	Het
Arid1a	A	G	4: 133,480,417 (GRCm39)	V169A	probably benign	Het
Bag2	T	C	1: 33,787,417 (GRCm39)		probably null	Het
Bmt2	A	C	6: 13,628,686 (GRCm39)	Y332*	probably null	Het
Bpifb1	A	T	2: 154,053,501 (GRCm39)	K248*	probably null	Het
Caap1	C	A	4: 94,444,751 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,692,576 (GRCm39)	Y389F	probably damaging	Het
Capn1	C	T	19: 6,043,946 (GRCm39)	V562I	probably benign	Het
Ccr1	T	A	9: 123,763,985 (GRCm39)	T182S	probably benign	Het
Ceacam15	T	C	7: 16,407,259 (GRCm39)	D86G	probably benign	Het
Cldnd1	C	T	16: 58,550,006 (GRCm39)	T63I	probably benign	Het
Col12a1	A	T	9: 79,559,368 (GRCm39)		probably null	Het
Cystm1	A	G	18: 36,526,348 (GRCm39)		probably benign	Het
Ddx55	T	A	5: 124,705,028 (GRCm39)	Y428*	probably null	Het
Ensa	G	A	3: 95,538,745 (GRCm39)	G118D	probably benign	Het
Folh1	A	T	7: 86,372,482 (GRCm39)		probably null	Het
Foxj2	C	A	6: 122,814,948 (GRCm39)	P328Q	probably damaging	Het
Fscn3	A	G	6: 28,435,627 (GRCm39)	I417V	probably damaging	Het
Galnt7	T	C	8: 57,995,761 (GRCm39)		probably benign	Het
Gm11563	T	A	11: 99,549,246 (GRCm39)	*169C	probably null	Het
Hfm1	A	T	5: 107,049,709 (GRCm39)	D417E	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,230 (GRCm39)	S107P	probably damaging	Het
Itsn2	A	G	12: 4,711,944 (GRCm39)	D904G	probably damaging	Het
Kif1b	A	T	4: 149,322,339 (GRCm39)	L860*	probably null	Het
Krt79	T	C	15: 101,839,119 (GRCm39)	E450G	probably damaging	Het
Lama1	T	C	17: 68,045,775 (GRCm39)	S227P	probably damaging	Het
Lamp5	C	A	2: 135,902,786 (GRCm39)	H168Q	probably benign	Het
Lilra5	A	T	7: 4,245,076 (GRCm39)	Q240L	possibly damaging	Het
Lrp1	A	T	10: 127,385,813 (GRCm39)	C3521S	probably benign	Het
Mroh1	T	A	15: 76,292,730 (GRCm39)		probably null	Het
Nlrp4g	A	T	9: 124,349,515 (GRCm38)		noncoding transcript	Het
Nr2f6	A	T	8: 71,831,179 (GRCm39)	I70N	probably benign	Het
Odad2	G	A	18: 7,286,763 (GRCm39)	T156M	probably benign	Het
Or10w1	T	A	19: 13,632,750 (GRCm39)	M319K	probably benign	Het
Or10x4	T	C	1: 174,219,442 (GRCm39)	L269P	probably damaging	Het
Or52n20	T	A	7: 104,320,711 (GRCm39)	F267L	probably damaging	Het
Pcdhb6	C	A	18: 37,468,426 (GRCm39)	A449D	possibly damaging	Het
Pcgf6	A	G	19: 47,036,545 (GRCm39)		probably null	Het
Prc1	C	A	7: 79,962,911 (GRCm39)	H131Q	probably benign	Het
Ptprq	C	A	10: 107,360,114 (GRCm39)	R2187L	probably damaging	Het
Rasl2-9	C	A	7: 5,128,702 (GRCm39)	R76L	possibly damaging	Het
Rdh16f1	A	T	10: 127,626,685 (GRCm39)	Y246F	probably benign	Het
Rit1	T	C	3: 88,624,982 (GRCm39)		probably benign	Het
Sash1	A	G	10: 8,605,672 (GRCm39)	V906A	probably benign	Het
Scnn1b	T	C	7: 121,501,509 (GRCm39)	V108A	probably benign	Het
Sema4f	A	T	6: 82,895,265 (GRCm39)	I356N	probably damaging	Het
Shc4	A	T	2: 125,491,197 (GRCm39)	L447Q	probably damaging	Het
Slc24a1	T	C	9: 64,856,758 (GRCm39)	M50V	unknown	Het
Slc28a3	T	A	13: 58,722,077 (GRCm39)	D269V	possibly damaging	Het
Slc35e1	A	G	8: 73,246,166 (GRCm39)	S89P	possibly damaging	Het
Smpd5	T	A	15: 76,179,008 (GRCm39)	H125Q	probably benign	Het
Snapc2	A	G	8: 4,304,578 (GRCm39)	T31A	probably damaging	Het
Sox5	G	C	6: 143,779,214 (GRCm39)	H606D	possibly damaging	Het
Spag6	A	G	2: 18,742,107 (GRCm39)	T367A	possibly damaging	Het
Spag8	T	C	4: 43,651,636 (GRCm39)	T413A	probably damaging	Het
Sptlc3	G	A	2: 139,389,087 (GRCm39)	G156R	probably damaging	Het
Stx19	A	G	16: 62,642,783 (GRCm39)	T200A	probably benign	Het
Tas2r116	A	G	6: 132,832,668 (GRCm39)	T90A	probably benign	Het
Tasor2	G	A	13: 3,640,069 (GRCm39)	T356I	probably benign	Het
Tbl3	A	G	17: 24,924,304 (GRCm39)		probably benign	Het
Tekt5	G	T	16: 10,213,058 (GRCm39)	P76T	probably damaging	Het
Tjp2	C	T	19: 24,074,030 (GRCm39)	E1086K	possibly damaging	Het
Topbp1	T	C	9: 103,200,770 (GRCm39)	L601P	probably damaging	Het
Trav16	T	A	14: 53,980,934 (GRCm39)	M41K	possibly damaging	Het
Trav6-5	C	A	14: 53,728,960 (GRCm39)	N72K	probably benign	Het
Trpm3	C	G	19: 22,692,659 (GRCm39)	T250S	possibly damaging	Het
Vps35	A	T	8: 85,987,891 (GRCm39)	D753E	probably benign	Het
Vstm2a	A	T	11: 16,213,061 (GRCm39)	N149Y	probably damaging	Het
Vwa2	G	T	19: 56,895,318 (GRCm39)	M497I	probably benign	Het
Zfat	C	A	15: 68,052,223 (GRCm39)	V517L	probably benign	Het
Zfp169	C	A	13: 48,643,708 (GRCm39)	R473L	possibly damaging	Het
Zfp672	T	C	11: 58,220,324 (GRCm39)		probably benign	Het
Zranb1	T	C	7: 132,574,443 (GRCm39)	V420A	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
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
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'- AAAACCTGCCCAAAGTTGTGAAG -3'
(R):5'- AGGTTGGGCTTCTTCCACTG -3'

Sequencing Primer
(F):5'- GCCCAAAGTTGTGAAGTATGTATTC -3'
(R):5'- CAGCTGAGTCTGGGCTCAAG -3'

Posted On

2015-11-11