Mutagenetix > Incidental Mutation

Incidental Mutation 'R2055:Nr4a3'

226575

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

040060-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48045153-48086447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48067771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 456 (I456V)

Ref Sequence

ENSEMBL: ENSMUSP00000030025 (fasta)

Gene Model

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

AlphaFold

Q9QZB6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030025
AA Change: I456V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: I456V

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: I485V

SMART Domains

Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341
AA Change: I485V

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

0.2527

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,107 (GRCm39)	E185G	probably damaging	Het
3425401B19Rik	A	G	14: 32,384,508 (GRCm39)	S486P	probably benign	Het
A630023A22Rik	T	C	14: 33,774,707 (GRCm39)		probably benign	Het
Abca1	T	C	4: 53,069,881 (GRCm39)	N1271S	probably benign	Het
AI597479	C	T	1: 43,150,280 (GRCm39)	A130V	probably benign	Het
Angptl4	A	G	17: 33,999,498 (GRCm39)		probably null	Het
Arhgef25	T	A	10: 127,021,004 (GRCm39)	N294I	probably damaging	Het
Atp2b1	T	C	10: 98,850,421 (GRCm39)	V848A	probably damaging	Het
Bard1	T	C	1: 71,114,031 (GRCm39)	T317A	probably benign	Het
C1rl	T	C	6: 124,470,781 (GRCm39)	W30R	probably benign	Het
Cchcr1	A	G	17: 35,837,317 (GRCm39)	E379G	probably damaging	Het
Cfap36	G	T	11: 29,197,122 (GRCm39)	A3E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca4a	A	G	3: 144,676,489 (GRCm39)	Y64H	probably damaging	Het
Cops5	A	G	1: 10,102,562 (GRCm39)		probably null	Het
Cracr2a	G	T	6: 127,585,564 (GRCm39)	E121*	probably null	Het
Cstf1	A	G	2: 172,222,403 (GRCm39)	E387G	probably benign	Het
D630044L22Rik	A	C	17: 26,180,951 (GRCm39)	D733E	probably damaging	Het
Dlc1	A	T	8: 37,060,535 (GRCm39)	C514S	probably damaging	Het
Dmwd	G	T	7: 18,810,610 (GRCm39)	R139L	probably benign	Het
Dnah17	A	T	11: 117,958,357 (GRCm39)	S2709T	probably benign	Het
Dnmt3a	T	C	12: 3,922,859 (GRCm39)	I154T	probably benign	Het
Dpp7	T	C	2: 25,244,490 (GRCm39)	N297S	possibly damaging	Het
Ern2	A	T	7: 121,783,168 (GRCm39)	V34D	possibly damaging	Het
Erp27	A	G	6: 136,885,227 (GRCm39)		probably benign	Het
F2	T	C	2: 91,458,787 (GRCm39)	T508A	probably benign	Het
Fam181b	A	G	7: 92,729,634 (GRCm39)	T136A	probably benign	Het
Fam227b	C	A	2: 125,942,874 (GRCm39)	V308L	probably benign	Het
Fbxw20	A	T	9: 109,050,442 (GRCm39)	H394Q	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Glt8d1	T	G	14: 30,731,693 (GRCm39)	S111A	probably benign	Het
Gm11146	A	T	16: 77,391,969 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,885,416 (GRCm39)		probably benign	Het
H2-Q2	A	T	17: 35,564,247 (GRCm39)	T334S	probably benign	Het
Hcrtr1	A	G	4: 130,024,680 (GRCm39)	V402A	probably benign	Het
Hmcn2	C	A	2: 31,268,294 (GRCm39)	A1130D	probably benign	Het
Hsd17b2	T	C	8: 118,428,913 (GRCm39)	L60P	possibly damaging	Het
Htr1f	A	T	16: 64,746,398 (GRCm39)	I298N	probably damaging	Het
Ighmbp2	G	T	19: 3,315,095 (GRCm39)	A775D	probably benign	Het
Kcnn3	A	G	3: 89,428,682 (GRCm39)	T303A	probably damaging	Het
Kiz	C	A	2: 146,733,203 (GRCm39)	Q460K	probably benign	Het
Krt75	C	T	15: 101,481,196 (GRCm39)	V193I	probably benign	Het
Lsp1	G	A	7: 142,043,144 (GRCm39)		probably null	Het
Mfsd12	A	G	10: 81,196,063 (GRCm39)	H146R	probably damaging	Het
Mmp23	T	C	4: 155,736,444 (GRCm39)	K199R	possibly damaging	Het
Naip2	A	G	13: 100,315,880 (GRCm39)	V300A	probably benign	Het
Nbeal1	C	T	1: 60,350,216 (GRCm39)	L2422F	probably damaging	Het
Nbeal2	G	T	9: 110,464,375 (GRCm39)	D1094E	possibly damaging	Het
Nckap5	T	C	1: 125,954,635 (GRCm39)	E639G	probably damaging	Het
Or2t43	A	G	11: 58,457,673 (GRCm39)	F166S	probably damaging	Het
Parp9	G	T	16: 35,773,984 (GRCm39)	V86L	probably damaging	Het
Phactr1	A	G	13: 43,231,416 (GRCm39)	N386S	probably damaging	Het
Pold2	A	T	11: 5,823,516 (GRCm39)	Y304*	probably null	Het
Pou5f2	A	G	13: 78,173,940 (GRCm39)	Y294C	probably benign	Het
Rars1	A	G	11: 35,717,410 (GRCm39)		probably benign	Het
Rbm12b1	A	G	4: 12,145,606 (GRCm39)	E526G	probably benign	Het
Sacs	T	C	14: 61,451,498 (GRCm39)	Y4515H	probably damaging	Het
Sdk2	C	A	11: 113,741,780 (GRCm39)	R813L	probably damaging	Het
Six5	T	C	7: 18,829,154 (GRCm39)	V198A	possibly damaging	Het
Slco1a7	A	T	6: 141,671,181 (GRCm39)	H430Q	probably benign	Het
Spata31e2	A	T	1: 26,724,813 (GRCm39)	N122K	possibly damaging	Het
Spn	A	G	7: 126,736,388 (GRCm39)	S40P	probably damaging	Het
Ssr1	A	G	13: 38,171,761 (GRCm39)		probably benign	Het
Tlr6	C	A	5: 65,111,269 (GRCm39)	C546F	probably damaging	Het
Top1	T	A	2: 160,544,748 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,532 (GRCm39)	S151P	probably damaging	Het
Tubb2b	T	G	13: 34,311,708 (GRCm39)	K362Q	probably benign	Het
Unc13c	T	C	9: 73,643,832 (GRCm39)	T1211A	probably damaging	Het
Vmn1r15	T	C	6: 57,235,729 (GRCm39)	V199A	possibly damaging	Het
Vnn1	A	G	10: 23,776,475 (GRCm39)		probably benign	Het
Vps41	T	A	13: 19,038,786 (GRCm39)	N737K	possibly damaging	Het
Vps50	T	A	6: 3,522,265 (GRCm39)	N144K	probably benign	Het
Zc3h7a	A	T	16: 10,955,340 (GRCm39)	N911K	probably benign	Het
Zkscan7	T	A	9: 122,718,002 (GRCm39)	S132R	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
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

Predicted Primers

PCR Primer
(F):5'- CAGAGCCAGTCTTCAATGGTG -3'
(R):5'- TCAGACTAGAACCCAGGGTC -3'

Sequencing Primer
(F):5'- CCAGTCTTCAATGGTGGTGCC -3'
(R):5'- TAGAACCCAGGGTCCCAGC -3'

Posted On

2014-09-17