Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Nr4a3'

617429

Institutional Source

Beutler Lab

Gene Symbol

Nr4a3

Ensembl Gene

ENSMUSG00000028341

Gene Name

nuclear receptor subfamily 4, group A, member 3

Synonyms

Nor1, TEC, MINOR, NOR-1

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48045153-48086447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48051510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 88 (I88N)

Ref Sequence

ENSEMBL: ENSMUSP00000030025 (fasta)

Gene Model

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

AlphaFold

Q9QZB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030025
AA Change: I88N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: I88N

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

SMART Domains

Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341
AA Change: I117N

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854 (GRCm38)	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236 (GRCm38)	S296A	unknown	Het
Ambp	G	T	4: 63,144,197 (GRCm38)	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593 (GRCm38)	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735 (GRCm38)	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149 (GRCm38)		probably null	Het
Aspa	A	C	11: 73,322,206 (GRCm38)	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174 (GRCm38)	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779 (GRCm38)	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404 (GRCm38)	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806 (GRCm38)	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301 (GRCm38)	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108 (GRCm38)	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315 (GRCm38)		probably null	Het
Chd7	T	A	4: 8,751,605 (GRCm38)	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766 (GRCm38)	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803 (GRCm38)	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555 (GRCm38)	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566 (GRCm38)	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402 (GRCm38)	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766 (GRCm38)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114 (GRCm38)	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577 (GRCm38)	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668 (GRCm38)	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014 (GRCm38)	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530 (GRCm38)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330 (GRCm38)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820 (GRCm38)	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308 (GRCm38)	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm38)	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344 (GRCm38)	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591 (GRCm38)	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520 (GRCm38)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720 (GRCm38)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376 (GRCm38)	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446 (GRCm38)	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970 (GRCm38)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795 (GRCm38)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873 (GRCm38)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703 (GRCm38)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239 (GRCm38)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680 (GRCm38)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557 (GRCm38)	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299 (GRCm38)	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561 (GRCm38)	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365 (GRCm38)	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613 (GRCm38)	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767 (GRCm38)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272 (GRCm38)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892 (GRCm38)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794 (GRCm38)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287 (GRCm38)	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061 (GRCm38)	K53T	probably damaging	Het
Oas3	A	G	5: 120,756,966 (GRCm38)	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785 (GRCm38)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293 (GRCm38)	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776 (GRCm38)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861 (GRCm38)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479 (GRCm38)	R46G		Het
Rrbp1	C	A	2: 143,956,792 (GRCm38)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232 (GRCm38)	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599 (GRCm38)	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085 (GRCm38)	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086 (GRCm38)	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276 (GRCm38)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189 (GRCm38)	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277 (GRCm38)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309 (GRCm38)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854 (GRCm38)	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340 (GRCm38)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765 (GRCm38)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101 (GRCm38)	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376 (GRCm38)	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062 (GRCm38)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447 (GRCm38)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827 (GRCm38)	Q57*	probably null	Het
Trio	C	G	15: 27,749,866 (GRCm38)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043 (GRCm38)	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471 (GRCm38)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504 (GRCm38)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338 (GRCm38)	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254 (GRCm38)	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020 (GRCm38)	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068 (GRCm38)	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924 (GRCm38)	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098 (GRCm38)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568 (GRCm38)		probably null	Het

Other mutations in Nr4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Nr4a3	APN	4	48,051,586 (GRCm38)	missense	possibly damaging	0.48
IGL01407:Nr4a3	APN	4	48,083,201 (GRCm38)	missense	probably benign	0.00
IGL01454:Nr4a3	APN	4	48,067,803 (GRCm38)	missense	probably damaging	1.00
IGL01472:Nr4a3	APN	4	48,071,133 (GRCm38)	missense	probably damaging	1.00
IGL02622:Nr4a3	APN	4	48,051,649 (GRCm38)	missense	probably benign	0.06
IGL03401:Nr4a3	APN	4	48,070,987 (GRCm38)	splice site	probably null
bulbous	UTSW	4	48,083,255 (GRCm38)	missense	probably damaging	0.98
cronus	UTSW	4	48,056,539 (GRCm38)	missense	probably damaging	1.00
I1329:Nr4a3	UTSW	4	48,051,585 (GRCm38)	missense	probably benign	0.12
R0486:Nr4a3	UTSW	4	48,056,525 (GRCm38)	splice site	probably benign
R0610:Nr4a3	UTSW	4	48,051,903 (GRCm38)	missense	probably benign	0.10
R1170:Nr4a3	UTSW	4	48,083,324 (GRCm38)	missense	probably benign	0.01
R1170:Nr4a3	UTSW	4	48,051,564 (GRCm38)	missense	probably damaging	0.98
R1440:Nr4a3	UTSW	4	48,051,777 (GRCm38)	missense	probably benign
R1977:Nr4a3	UTSW	4	48,056,539 (GRCm38)	missense	probably damaging	1.00
R2016:Nr4a3	UTSW	4	48,083,252 (GRCm38)	missense	probably damaging	1.00
R2046:Nr4a3	UTSW	4	48,067,807 (GRCm38)	missense	possibly damaging	0.82
R2055:Nr4a3	UTSW	4	48,067,771 (GRCm38)	missense	possibly damaging	0.86
R3707:Nr4a3	UTSW	4	48,056,699 (GRCm38)	missense	probably damaging	0.99
R3708:Nr4a3	UTSW	4	48,056,699 (GRCm38)	missense	probably damaging	0.99
R4246:Nr4a3	UTSW	4	48,083,125 (GRCm38)	missense	possibly damaging	0.86
R4657:Nr4a3	UTSW	4	48,051,522 (GRCm38)	missense	probably damaging	1.00
R4870:Nr4a3	UTSW	4	48,051,651 (GRCm38)	missense	possibly damaging	0.73
R5434:Nr4a3	UTSW	4	48,067,861 (GRCm38)	missense	probably damaging	1.00
R5539:Nr4a3	UTSW	4	48,056,525 (GRCm38)	splice site	probably null
R5663:Nr4a3	UTSW	4	48,055,931 (GRCm38)	missense	probably damaging	1.00
R6513:Nr4a3	UTSW	4	48,083,255 (GRCm38)	missense	probably damaging	0.98
R6664:Nr4a3	UTSW	4	48,056,006 (GRCm38)	missense	probably damaging	1.00
R6921:Nr4a3	UTSW	4	48,051,486 (GRCm38)	missense	probably benign	0.04
R6940:Nr4a3	UTSW	4	48,051,486 (GRCm38)	missense	probably benign	0.04
R7076:Nr4a3	UTSW	4	48,055,957 (GRCm38)	missense	probably damaging	1.00
R7322:Nr4a3	UTSW	4	48,083,238 (GRCm38)	missense	probably benign	0.00
R7347:Nr4a3	UTSW	4	48,051,290 (GRCm38)	missense	possibly damaging	0.94
R7348:Nr4a3	UTSW	4	48,051,290 (GRCm38)	missense	possibly damaging	0.94
R7349:Nr4a3	UTSW	4	48,051,290 (GRCm38)	missense	possibly damaging	0.94
R7361:Nr4a3	UTSW	4	48,083,203 (GRCm38)	missense	probably benign	0.00
R7365:Nr4a3	UTSW	4	48,051,290 (GRCm38)	missense	possibly damaging	0.94
R7366:Nr4a3	UTSW	4	48,051,290 (GRCm38)	missense	possibly damaging	0.94
R7418:Nr4a3	UTSW	4	48,051,476 (GRCm38)	missense	probably damaging	1.00
R7659:Nr4a3	UTSW	4	48,051,269 (GRCm38)	missense	probably damaging	1.00
R7895:Nr4a3	UTSW	4	48,051,390 (GRCm38)	missense	probably benign
R7986:Nr4a3	UTSW	4	48,055,954 (GRCm38)	missense	probably damaging	1.00
R8226:Nr4a3	UTSW	4	48,056,588 (GRCm38)	missense	probably damaging	1.00
R8328:Nr4a3	UTSW	4	48,051,323 (GRCm38)	missense	probably damaging	1.00
R8349:Nr4a3	UTSW	4	48,052,170 (GRCm38)	missense	probably benign	0.40
R8403:Nr4a3	UTSW	4	48,051,348 (GRCm38)	missense	probably damaging	1.00
R8449:Nr4a3	UTSW	4	48,052,170 (GRCm38)	missense	probably benign	0.40
R8941:Nr4a3	UTSW	4	48,051,756 (GRCm38)	missense	possibly damaging	0.89
R9026:Nr4a3	UTSW	4	48,052,194 (GRCm38)	missense	possibly damaging	0.66
R9045:Nr4a3	UTSW	4	48,067,694 (GRCm38)	missense	possibly damaging	0.92
R9473:Nr4a3	UTSW	4	48,052,143 (GRCm38)	missense	probably damaging	1.00
R9572:Nr4a3	UTSW	4	48,051,258 (GRCm38)	missense	probably damaging	1.00
R9660:Nr4a3	UTSW	4	48,051,353 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGCTCGGAATACACCACAG -3'
(R):5'- TTCATCTGCGGGTCCAGCA -3'

Sequencing Primer
(F):5'- GCTCGGAATACACCACAGAAATCATG -3'
(R):5'- AGCTCGTCGTCCCACAG -3'

Posted On

2020-01-23