Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01454:Nr4a3'

84720

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nr4a3

Ensembl Gene

ENSMUSG00000028341

Gene Name

nuclear receptor subfamily 4, group A, member 3

Synonyms

MINOR, Nor1, NOR-1, TEC

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01454

Quality Score

Status

Chromosome

Chromosomal Location

48045153-48086447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48067803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 466 (D466E)

Ref Sequence

ENSEMBL: ENSMUSP00000030025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030025]

AlphaFold

Q9QZB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030025
AA Change: D466E

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

SMART Domains

Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: D466E

Domain	Start	End	E-Value	Type
Blast:HOLI	1	43	4e-18	BLAST
low complexity region	99	115	N/A	INTRINSIC
low complexity region	139	151	N/A	INTRINSIC
low complexity region	196	210	N/A	INTRINSIC
low complexity region	218	239	N/A	INTRINSIC
low complexity region	269	288	N/A	INTRINSIC
ZnF_C4	290	361	4.57e-39	SMART
low complexity region	376	396	N/A	INTRINSIC
HOLI	440	595	2.46e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153369
AA Change: D495E

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341
AA Change: D495E

Domain	Start	End	E-Value	Type
Blast:HOLI	30	73	8e-19	BLAST
low complexity region	129	145	N/A	INTRINSIC
low complexity region	169	181	N/A	INTRINSIC
low complexity region	226	240	N/A	INTRINSIC
low complexity region	248	269	N/A	INTRINSIC
low complexity region	299	318	N/A	INTRINSIC
ZnF_C4	320	391	4.57e-39	SMART
low complexity region	406	426	N/A	INTRINSIC
HOLI	470	625	2.46e-21	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the NR4A subfamily of nuclear hormone receptors that bind to DNA and modulate gene expression. The encoded protein has been implicated in T and B lymphocyte apoptosis, and immune cell proliferation. Mice lacking the encoded protein exhibit partial bidirectional circling behavior and inner ear dysfunction. Disruption of this gene in mice also results in defective hippocampal axonal growth and postnatal neuronal cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit defects in the semicircular canals of the inner ear and bidirectional circling behavior. Mice homozygous for another null allele display embryonic lethality with impaired cell migration during gastrulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap25	G	A	6: 87,473,058 (GRCm39)	A33V	possibly damaging	Het
BC004004	T	C	17: 29,512,995 (GRCm39)	S140P	possibly damaging	Het
Cul3	T	C	1: 80,281,900 (GRCm39)	D26G	probably damaging	Het
Dnah17	A	T	11: 117,949,223 (GRCm39)	F2929I	probably damaging	Het
Gm21560	A	G	14: 6,216,286 (GRCm38)	F186L	probably benign	Het
Krt32	C	T	11: 99,974,907 (GRCm39)	E347K	probably damaging	Het
Mtarc1	A	G	1: 184,539,377 (GRCm39)	L98P	probably damaging	Het
Myh8	T	C	11: 67,174,422 (GRCm39)	I223T	probably damaging	Het
Plxnb1	A	T	9: 108,942,422 (GRCm39)	D1757V	probably damaging	Het
Pnpt1	T	C	11: 29,087,142 (GRCm39)	I167T	probably benign	Het
Polrmt	T	C	10: 79,579,517 (GRCm39)	E78G	possibly damaging	Het
Pparg	A	G	6: 115,416,900 (GRCm39)	D31G	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Trio	T	C	15: 27,833,071 (GRCm39)	I104V	probably benign	Het
Vgll4	A	G	6: 114,840,957 (GRCm39)	V113A	probably benign	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Zscan20	T	C	4: 128,483,334 (GRCm39)	E445G	probably benign	Het

Other mutations in Nr4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Nr4a3	APN	4	48,051,586 (GRCm39)	missense	possibly damaging	0.48
IGL01407:Nr4a3	APN	4	48,083,201 (GRCm39)	missense	probably benign	0.00
IGL01472:Nr4a3	APN	4	48,071,133 (GRCm39)	missense	probably damaging	1.00
IGL02622:Nr4a3	APN	4	48,051,649 (GRCm39)	missense	probably benign	0.06
IGL03401:Nr4a3	APN	4	48,070,987 (GRCm39)	splice site	probably null
bulbous	UTSW	4	48,083,255 (GRCm39)	missense	probably damaging	0.98
cronus	UTSW	4	48,056,539 (GRCm39)	missense	probably damaging	1.00
I1329:Nr4a3	UTSW	4	48,051,585 (GRCm39)	missense	probably benign	0.12
R0486:Nr4a3	UTSW	4	48,056,525 (GRCm39)	splice site	probably benign
R0610:Nr4a3	UTSW	4	48,051,903 (GRCm39)	missense	probably benign	0.10
R1170:Nr4a3	UTSW	4	48,083,324 (GRCm39)	missense	probably benign	0.01
R1170:Nr4a3	UTSW	4	48,051,564 (GRCm39)	missense	probably damaging	0.98
R1440:Nr4a3	UTSW	4	48,051,777 (GRCm39)	missense	probably benign
R1977:Nr4a3	UTSW	4	48,056,539 (GRCm39)	missense	probably damaging	1.00
R2016:Nr4a3	UTSW	4	48,083,252 (GRCm39)	missense	probably damaging	1.00
R2046:Nr4a3	UTSW	4	48,067,807 (GRCm39)	missense	possibly damaging	0.82
R2055:Nr4a3	UTSW	4	48,067,771 (GRCm39)	missense	possibly damaging	0.86
R3707:Nr4a3	UTSW	4	48,056,699 (GRCm39)	missense	probably damaging	0.99
R3708:Nr4a3	UTSW	4	48,056,699 (GRCm39)	missense	probably damaging	0.99
R4246:Nr4a3	UTSW	4	48,083,125 (GRCm39)	missense	possibly damaging	0.86
R4657:Nr4a3	UTSW	4	48,051,522 (GRCm39)	missense	probably damaging	1.00
R4870:Nr4a3	UTSW	4	48,051,651 (GRCm39)	missense	possibly damaging	0.73
R5434:Nr4a3	UTSW	4	48,067,861 (GRCm39)	missense	probably damaging	1.00
R5539:Nr4a3	UTSW	4	48,056,525 (GRCm39)	splice site	probably null
R5663:Nr4a3	UTSW	4	48,055,931 (GRCm39)	missense	probably damaging	1.00
R6513:Nr4a3	UTSW	4	48,083,255 (GRCm39)	missense	probably damaging	0.98
R6664:Nr4a3	UTSW	4	48,056,006 (GRCm39)	missense	probably damaging	1.00
R6921:Nr4a3	UTSW	4	48,051,486 (GRCm39)	missense	probably benign	0.04
R6940:Nr4a3	UTSW	4	48,051,486 (GRCm39)	missense	probably benign	0.04
R7076:Nr4a3	UTSW	4	48,055,957 (GRCm39)	missense	probably damaging	1.00
R7322:Nr4a3	UTSW	4	48,083,238 (GRCm39)	missense	probably benign	0.00
R7347:Nr4a3	UTSW	4	48,051,290 (GRCm39)	missense	possibly damaging	0.94
R7348:Nr4a3	UTSW	4	48,051,290 (GRCm39)	missense	possibly damaging	0.94
R7349:Nr4a3	UTSW	4	48,051,290 (GRCm39)	missense	possibly damaging	0.94
R7361:Nr4a3	UTSW	4	48,083,203 (GRCm39)	missense	probably benign	0.00
R7365:Nr4a3	UTSW	4	48,051,290 (GRCm39)	missense	possibly damaging	0.94
R7366:Nr4a3	UTSW	4	48,051,290 (GRCm39)	missense	possibly damaging	0.94
R7418:Nr4a3	UTSW	4	48,051,476 (GRCm39)	missense	probably damaging	1.00
R7659:Nr4a3	UTSW	4	48,051,269 (GRCm39)	missense	probably damaging	1.00
R7895:Nr4a3	UTSW	4	48,051,390 (GRCm39)	missense	probably benign
R7986:Nr4a3	UTSW	4	48,055,954 (GRCm39)	missense	probably damaging	1.00
R8022:Nr4a3	UTSW	4	48,051,510 (GRCm39)	missense	probably damaging	1.00
R8226:Nr4a3	UTSW	4	48,056,588 (GRCm39)	missense	probably damaging	1.00
R8328:Nr4a3	UTSW	4	48,051,323 (GRCm39)	missense	probably damaging	1.00
R8349:Nr4a3	UTSW	4	48,052,170 (GRCm39)	missense	probably benign	0.40
R8403:Nr4a3	UTSW	4	48,051,348 (GRCm39)	missense	probably damaging	1.00
R8449:Nr4a3	UTSW	4	48,052,170 (GRCm39)	missense	probably benign	0.40
R8941:Nr4a3	UTSW	4	48,051,756 (GRCm39)	missense	possibly damaging	0.89
R9026:Nr4a3	UTSW	4	48,052,194 (GRCm39)	missense	possibly damaging	0.66
R9045:Nr4a3	UTSW	4	48,067,694 (GRCm39)	missense	possibly damaging	0.92
R9473:Nr4a3	UTSW	4	48,052,143 (GRCm39)	missense	probably damaging	1.00
R9572:Nr4a3	UTSW	4	48,051,258 (GRCm39)	missense	probably damaging	1.00
R9660:Nr4a3	UTSW	4	48,051,353 (GRCm39)	missense	probably benign

Posted On

2013-11-11