Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Nr4a3'

570264

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

045374-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7347 (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: 99.0%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	G	T	3: 104,985,728 (GRCm39)	R47S	unknown	Het
Abtb2	T	G	2: 103,397,757 (GRCm39)	I229S	probably damaging	Het
Adgre1	T	C	17: 57,727,441 (GRCm39)	L457P	probably damaging	Het
Amer3	C	A	1: 34,626,983 (GRCm39)	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,760,335 (GRCm39)	S729P	probably benign	Het
Asap2	T	G	12: 21,279,458 (GRCm39)	I418S	probably benign	Het
Atp5mf	T	C	5: 145,125,295 (GRCm39)		probably null	Het
Brinp3	T	A	1: 146,777,824 (GRCm39)	V757E	probably benign	Het
Brip1	C	T	11: 86,029,929 (GRCm39)	G572R	probably benign	Het
C3	C	A	17: 57,530,215 (GRCm39)	R462L	probably benign	Het
Cat	T	A	2: 103,293,643 (GRCm39)	H395L	probably benign	Het
Ccdc168	G	T	1: 44,098,656 (GRCm39)	P814Q	probably damaging	Het
Cela3a	T	C	4: 137,129,917 (GRCm39)	N235D	possibly damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,076,094 (GRCm39)	G993W	probably damaging	Het
Col9a1	A	G	1: 24,218,484 (GRCm39)		probably null	Het
Coro2b	G	T	9: 62,396,654 (GRCm39)	H29N	probably benign	Het
Dll3	C	T	7: 27,998,536 (GRCm39)	R143H	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530 (GRCm39)	*114R	probably null	Het
Ecm2	T	C	13: 49,668,554 (GRCm39)	S86P	probably damaging	Het
Eif5	T	C	12: 111,506,724 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,644,328 (GRCm39)		probably null	Het
Exph5	A	G	9: 53,287,196 (GRCm39)	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,529,586 (GRCm39)	F110L	probably benign	Het
Flt1	T	A	5: 147,517,191 (GRCm39)	E1032V	probably damaging	Het
Galnt5	A	T	2: 57,907,205 (GRCm39)	H556L	probably benign	Het
Glb1l3	A	T	9: 26,740,299 (GRCm39)	Y344N	probably benign	Het
Glrx3	C	A	7: 137,061,015 (GRCm39)	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,609,499 (GRCm39)	C246S	probably damaging	Het
Gstm4	A	G	3: 107,949,689 (GRCm39)	L137P	probably benign	Het
Hsd17b13	T	C	5: 104,116,616 (GRCm39)	T169A	probably damaging	Het
Hydin	A	C	8: 111,326,994 (GRCm39)	T4778P	probably benign	Het
Ifna15	A	G	4: 88,476,220 (GRCm39)	L88P	probably damaging	Het
Inhca	T	A	9: 103,159,845 (GRCm39)	E22V	possibly damaging	Het
Kcnab1	G	A	3: 65,283,952 (GRCm39)	R390H	probably benign	Het
Kng1	C	A	16: 22,886,537 (GRCm39)	H161N	possibly damaging	Het
Lamp5	T	C	2: 135,902,878 (GRCm39)	V199A	probably benign	Het
Lrig3	G	A	10: 125,845,835 (GRCm39)	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,129,799 (GRCm39)	R412H	probably damaging	Het
Marchf6	C	A	15: 31,486,505 (GRCm39)	C350F	probably benign	Het
Mastl	A	G	2: 23,023,401 (GRCm39)	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,590,951 (GRCm39)	M231L	probably benign	Het
Mical2	T	C	7: 111,981,358 (GRCm39)	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	A	G	11: 60,368,787 (GRCm39)	M516V	probably benign	Het
Myo1b	A	T	1: 51,790,413 (GRCm39)	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,460,147 (GRCm39)	L381*	probably null	Het
Nln	T	C	13: 104,187,355 (GRCm39)	K325E	probably damaging	Het
Nrp2	C	T	1: 62,784,663 (GRCm39)	P271S	probably benign	Het
Obox6	A	C	7: 15,568,571 (GRCm39)	L102V	possibly damaging	Het
Or4a69	T	C	2: 89,312,799 (GRCm39)	S227G	probably benign	Het
Or4p8	T	C	2: 88,727,615 (GRCm39)	I109V	possibly damaging	Het
Or7g33	A	G	9: 19,448,395 (GRCm39)	M277T	probably damaging	Het
Or8k16	T	C	2: 85,520,181 (GRCm39)	M136T	probably damaging	Het
Pde10a	A	G	17: 9,186,294 (GRCm39)	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,343,759 (GRCm39)	S760L	possibly damaging	Het
Pid1	T	A	1: 84,136,850 (GRCm39)	I94L	unknown	Het
Plekhn1	T	C	4: 156,307,128 (GRCm39)	H474R	probably benign	Het
Prcc	A	T	3: 87,776,988 (GRCm39)	S329T	possibly damaging	Het
Pros1	G	T	16: 62,739,886 (GRCm39)	R445L	probably damaging	Het
Pxdn	C	A	12: 30,062,260 (GRCm39)	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106 (GRCm39)	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,559,657 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,779 (GRCm39)	V446A	probably damaging	Het
Slc6a4	C	G	11: 76,907,911 (GRCm39)	Y358*	probably null	Het
Sned1	A	C	1: 93,209,458 (GRCm39)	E857A	probably damaging	Het
Spata31e2	A	T	1: 26,723,548 (GRCm39)	L544Q	probably benign	Het
Spata31e3	T	C	13: 50,399,780 (GRCm39)	I849V	probably benign	Het
Spdye4b	C	T	5: 143,188,145 (GRCm39)	R213C	possibly damaging	Het
Spry2	T	G	14: 106,130,946 (GRCm39)	E80A	probably damaging	Het
Stard9	G	A	2: 120,497,015 (GRCm39)	C142Y	probably benign	Het
Sync	A	T	4: 129,188,099 (GRCm39)	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,185,117 (GRCm39)	C718R		Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmbim1	T	C	1: 74,330,438 (GRCm39)	E185G	probably benign	Het
Tyk2	T	C	9: 21,019,330 (GRCm39)	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,482,428 (GRCm39)	V87I	not run	Het
Vmn2r49	A	G	7: 9,720,741 (GRCm39)	V250A	probably benign	Het
Yipf3	A	C	17: 46,561,753 (GRCm39)	T187P	probably damaging	Het
Zfp148	G	T	16: 33,255,160 (GRCm39)	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GAGCATTCAGTCTTTGCCAGC -3'
(R):5'- TCCATCTTGATCAAAGGCCG -3'

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

Posted On

2019-09-13