Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01407:Nr4a3'

79855

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

Nor1, TEC, MINOR, NOR-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01407

Quality Score

Status

Chromosome

Chromosomal Location

48045153-48086447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48083201 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 578 (E578G)

Ref Sequence

ENSEMBL: ENSMUSP00000030025 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030025
AA Change: E578G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: E578G

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

unknown
Transcript: ENSMUST00000153369
AA Change: E607G

SMART Domains

Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341
AA Change: E607G

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,245,944	D1140V	probably damaging	Het
Ak1	G	T	2: 32,633,495		probably benign	Het
Ano1	A	T	7: 144,637,111	L411H	probably benign	Het
Atad2	A	T	15: 58,104,525	N569K	probably benign	Het
Bst2	C	A	8: 71,537,186	R81L	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Chrna5	C	T	9: 55,004,399	T57M	possibly damaging	Het
Cp	A	T	3: 19,977,205	D602V	possibly damaging	Het
Drd2	T	C	9: 49,400,815	I156T	probably damaging	Het
Elp4	G	A	2: 105,792,308	R349W	probably damaging	Het
Eml6	G	A	11: 29,755,021	R1508*	probably null	Het
Etl4	T	C	2: 20,743,856	L335S	probably damaging	Het
Fat3	A	T	9: 16,378,023	I68K	probably benign	Het
Fyco1	G	T	9: 123,828,879	A744D	probably damaging	Het
Gm22165	G	T	3: 64,105,465		probably benign	Het
Gse1	T	C	8: 120,553,587	M1T	probably null	Het
Hs3st5	A	T	10: 36,833,408	H313L	probably damaging	Het
Hsd17b3	T	C	13: 64,062,905	Y212C	probably damaging	Het
Hyal5	G	T	6: 24,876,407	S93I	probably benign	Het
Itgb1	T	C	8: 128,722,834	V578A	probably benign	Het
Klf12	A	T	14: 100,109,858	N12K	possibly damaging	Het
Krt40	C	T	11: 99,541,219	C222Y	probably damaging	Het
Lrrn2	T	C	1: 132,937,227	L10P	probably damaging	Het
Lrsam1	T	C	2: 32,947,903	Y213C	probably damaging	Het
Mitf	C	A	6: 98,017,931	T277K	possibly damaging	Het
Ncan	C	T	8: 70,101,957	R1070H	probably benign	Het
Patj	A	G	4: 98,413,050	T191A	possibly damaging	Het
Pign	A	G	1: 105,589,302	V533A	probably benign	Het
Smad5	G	A	13: 56,735,817	V339I	probably benign	Het
Spem2	T	A	11: 69,817,239	Y300F	possibly damaging	Het
Trank1	T	G	9: 111,364,722	S605A	probably damaging	Het
Treml4	T	A	17: 48,264,849	D93E	possibly damaging	Het
Tsc22d2	T	A	3: 58,416,503	V272E	probably damaging	Het
Vmn2r19	T	A	6: 123,329,867	F445I	possibly damaging	Het
Zfp712	T	A	13: 67,042,166	Q99L	possibly damaging	Het
Zfp719	A	T	7: 43,584,187	K10I	probably benign	Het

Other mutations in Nr4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Nr4a3	APN	4	48051586	missense	possibly damaging	0.48
IGL01454:Nr4a3	APN	4	48067803	missense	probably damaging	1.00
IGL01472:Nr4a3	APN	4	48071133	missense	probably damaging	1.00
IGL02622:Nr4a3	APN	4	48051649	missense	probably benign	0.06
IGL03401:Nr4a3	APN	4	48070987	splice site	probably null
bulbous	UTSW	4	48083255	missense	probably damaging	0.98
cronus	UTSW	4	48056539	missense	probably damaging	1.00
I1329:Nr4a3	UTSW	4	48051585	missense	probably benign	0.12
R0486:Nr4a3	UTSW	4	48056525	splice site	probably benign
R0610:Nr4a3	UTSW	4	48051903	missense	probably benign	0.10
R1170:Nr4a3	UTSW	4	48051564	missense	probably damaging	0.98
R1170:Nr4a3	UTSW	4	48083324	missense	probably benign	0.01
R1440:Nr4a3	UTSW	4	48051777	missense	probably benign
R1977:Nr4a3	UTSW	4	48056539	missense	probably damaging	1.00
R2016:Nr4a3	UTSW	4	48083252	missense	probably damaging	1.00
R2046:Nr4a3	UTSW	4	48067807	missense	possibly damaging	0.82
R2055:Nr4a3	UTSW	4	48067771	missense	possibly damaging	0.86
R3707:Nr4a3	UTSW	4	48056699	missense	probably damaging	0.99
R3708:Nr4a3	UTSW	4	48056699	missense	probably damaging	0.99
R4246:Nr4a3	UTSW	4	48083125	missense	possibly damaging	0.86
R4657:Nr4a3	UTSW	4	48051522	missense	probably damaging	1.00
R4870:Nr4a3	UTSW	4	48051651	missense	possibly damaging	0.73
R5434:Nr4a3	UTSW	4	48067861	missense	probably damaging	1.00
R5539:Nr4a3	UTSW	4	48056525	splice site	probably null
R5663:Nr4a3	UTSW	4	48055931	missense	probably damaging	1.00
R6513:Nr4a3	UTSW	4	48083255	missense	probably damaging	0.98
R6664:Nr4a3	UTSW	4	48056006	missense	probably damaging	1.00
R6921:Nr4a3	UTSW	4	48051486	missense	probably benign	0.04
R6940:Nr4a3	UTSW	4	48051486	missense	probably benign	0.04
R7076:Nr4a3	UTSW	4	48055957	missense	probably damaging	1.00
R7322:Nr4a3	UTSW	4	48083238	missense	probably benign	0.00
R7347:Nr4a3	UTSW	4	48051290	missense	possibly damaging	0.94
R7348:Nr4a3	UTSW	4	48051290	missense	possibly damaging	0.94
R7349:Nr4a3	UTSW	4	48051290	missense	possibly damaging	0.94
R7361:Nr4a3	UTSW	4	48083203	missense	probably benign	0.00
R7365:Nr4a3	UTSW	4	48051290	missense	possibly damaging	0.94
R7366:Nr4a3	UTSW	4	48051290	missense	possibly damaging	0.94
R7418:Nr4a3	UTSW	4	48051476	missense	probably damaging	1.00

Posted On

2013-11-05