Mutagenetix > Incidental Mutation

Incidental Mutation 'R7348:Nr4a3'

570334

Institutional Source

Beutler Lab

Gene Symbol

Nr4a3

Ensembl Gene

ENSMUSG00000028341

Gene Name

nuclear receptor subfamily 4, group A, member 3

Synonyms

MINOR, Nor1, NOR-1, TEC

MMRRC Submission

045380-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48045153-48086447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48051290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 15 (S15A)

Ref Sequence

ENSEMBL: ENSMUSP00000030025 (fasta)

Gene Model

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

AlphaFold

Q9QZB6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030025
AA Change: S15A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: S15A

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: S44A

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

Meta Mutation Damage Score

0.0795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	G	A	15: 41,729,555 (GRCm39)	R282C	probably damaging	Het
Adcy2	T	A	13: 68,882,794 (GRCm39)	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,523,402 (GRCm39)	I274N		Het
Adpgk	A	G	9: 59,221,069 (GRCm39)	I292V	probably benign	Het
Agtrap	G	T	4: 148,165,054 (GRCm39)	F124L	probably benign	Het
Ankrd26	A	G	6: 118,485,525 (GRCm39)	Y1450H	probably damaging	Het
Ap4e1	A	T	2: 126,903,896 (GRCm39)	S933C	probably damaging	Het
Ap4e1	G	T	2: 126,903,897 (GRCm39)	S933I	possibly damaging	Het
Ap5s1	A	T	2: 131,054,572 (GRCm39)	T128S	possibly damaging	Het
Arih1	T	C	9: 59,393,341 (GRCm39)	Y97C	probably damaging	Het
Atp1a3	A	G	7: 24,678,251 (GRCm39)	F1034S	unknown	Het
Bmp6	T	C	13: 38,669,879 (GRCm39)	S388P	probably benign	Het
Ccdc39	A	G	3: 33,886,825 (GRCm39)	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,222,293 (GRCm39)	C150Y	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cln6	A	G	9: 62,756,458 (GRCm39)	S201G	probably benign	Het
Cntnap4	T	C	8: 113,391,909 (GRCm39)	Y125H	probably damaging	Het
Copa	A	G	1: 171,929,790 (GRCm39)	T286A	possibly damaging	Het
Cul9	A	T	17: 46,821,919 (GRCm39)	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,332,877 (GRCm39)	A490S	probably benign	Het
Cyp2t4	A	G	7: 26,856,676 (GRCm39)	I239V	probably benign	Het
Dpcd	A	G	19: 45,560,905 (GRCm39)	Y111C	probably damaging	Het
E2f7	C	T	10: 110,616,836 (GRCm39)	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,457,055 (GRCm39)	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,458,359 (GRCm39)	M77R	probably benign	Het
Fhod3	A	G	18: 25,223,524 (GRCm39)	R957G	possibly damaging	Het
H6pd	C	A	4: 150,068,359 (GRCm39)		probably null	Het
Haus5	G	T	7: 30,356,391 (GRCm39)	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,556,762 (GRCm39)		probably benign	Het
Igf2r	A	G	17: 12,922,371 (GRCm39)	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,035,455 (GRCm39)	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561 (GRCm39)	H251L	probably damaging	Het
Mapre3	T	C	5: 31,019,173 (GRCm39)	Y6H	probably benign	Het
Mlh3	G	T	12: 85,314,215 (GRCm39)	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 46,985,157 (GRCm39)	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myh1	C	A	11: 67,093,365 (GRCm39)	P152Q	probably damaging	Het
Myh6	A	T	14: 55,189,716 (GRCm39)	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,427,676 (GRCm39)	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,258,341 (GRCm39)	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,143,698 (GRCm39)	E21G	probably damaging	Het
Or2f1	T	C	6: 42,721,790 (GRCm39)	L273S	possibly damaging	Het
Or5p1	T	C	7: 107,916,920 (GRCm39)	V273A	possibly damaging	Het
Or5p64	T	C	7: 107,855,330 (GRCm39)	D5G	probably benign	Het
Or7a38	A	G	10: 78,753,396 (GRCm39)	T241A	probably damaging	Het
Parg	G	A	14: 31,972,036 (GRCm39)	R677Q	possibly damaging	Het
Pcsk5	A	T	19: 17,434,182 (GRCm39)	C1395*	probably null	Het
Psd2	G	A	18: 36,113,389 (GRCm39)	S287N	possibly damaging	Het
Psd3	T	C	8: 68,243,583 (GRCm39)	N685S	possibly damaging	Het
Pygb	C	T	2: 150,628,903 (GRCm39)	T39M	probably benign	Het
Rbfox1	C	A	16: 7,225,888 (GRCm39)	Y351*	probably null	Het
Rftn1	A	G	17: 50,311,351 (GRCm39)	L396P	probably damaging	Het
S1pr1	A	G	3: 115,505,710 (GRCm39)	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,364,899 (GRCm39)	M440V	probably benign	Het
Sel1l2	T	C	2: 140,107,644 (GRCm39)	N240S	probably benign	Het
Skic3	T	C	13: 76,331,003 (GRCm39)	F1478L	possibly damaging	Het
Skint1	T	C	4: 111,878,770 (GRCm39)	L234P	probably damaging	Het
Skint11	T	A	4: 114,101,919 (GRCm39)	Y311N	probably benign	Het
Slc6a5	A	T	7: 49,559,915 (GRCm39)		probably benign	Het
Tas2r134	T	C	2: 51,518,414 (GRCm39)	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,485,137 (GRCm39)	A773D	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmem184a	T	C	5: 139,799,809 (GRCm39)	E24G	probably null	Het
Tmem207	C	A	16: 26,335,577 (GRCm39)	W53C	possibly damaging	Het
Tns1	T	A	1: 73,956,076 (GRCm39)	H549L	possibly damaging	Het
Ttc41	G	T	10: 86,586,212 (GRCm39)	E839*	probably null	Het
Ufd1	T	G	16: 18,634,635 (GRCm39)		probably benign	Het
Usp28	A	G	9: 48,942,177 (GRCm39)	E713G	probably benign	Het
Utrn	A	G	10: 12,623,762 (GRCm39)	W159R	probably damaging	Het
Vcl	C	T	14: 21,053,218 (GRCm39)	A411V	probably benign	Het
Vcl	T	A	14: 21,059,020 (GRCm39)	C545*	probably null	Het
Vmn1r120	A	T	7: 20,787,377 (GRCm39)	S111R	probably damaging	Het
Wwox	T	A	8: 115,199,392 (GRCm39)	C146S	probably benign	Het
Zbtb2	T	C	10: 4,324,574 (GRCm39)	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,671,010 (GRCm39)	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,539,658 (GRCm39)	S231P	probably damaging	Het
Zhx3	G	T	2: 160,624,038 (GRCm39)	S43*	probably null	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
IGL01454:Nr4a3	APN	4	48,067,803 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAGGAGCATTCAGTCTTTGCCAG -3'
(R):5'- ATCTTGATCAAAGGCCGAGGC -3'

Sequencing Primer
(F):5'- CATTCAGTCTTTGCCAGCAGGTG -3'
(R):5'- CCAGAAGGCGGCATTTGGTAC -3'

Posted On

2019-09-13