Mutagenetix > Incidental Mutation

Incidental Mutation 'R5239:Nr2e3'

400614

Institutional Source

Beutler Lab

Gene Symbol

Nr2e3

Ensembl Gene

ENSMUSG00000032292

Gene Name

nuclear receptor subfamily 2, group E, member 3

Synonyms

RNR, Pnr, photoreceptor-specific nuclear receptor

MMRRC Submission

042810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59850054-59867942 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 59857059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034831]

AlphaFold

Q9QXZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000034831

SMART Domains

Protein: ENSMUSP00000034831
Gene: ENSMUSG00000032292

Domain	Start	End	E-Value	Type
ZnF_C4	37	109	1.26e-32	SMART
HOLI	209	367	3.92e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147892

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (60/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation exhibit rossettes and a reduced number of nuclei in the retinal outer nuclear layer. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,848 (GRCm39)	N168S	probably benign	Het
Adam3	T	A	8: 25,184,207 (GRCm39)	T598S	possibly damaging	Het
Ago1	G	T	4: 126,335,008 (GRCm39)	H405N	probably damaging	Het
Atp8b4	T	C	2: 126,234,781 (GRCm39)		probably null	Het
Baz1a	A	G	12: 54,945,129 (GRCm39)	S1409P	probably damaging	Het
Brinp2	T	C	1: 158,078,908 (GRCm39)	E305G	probably benign	Het
Bub1	T	A	2: 127,663,616 (GRCm39)	R262W	probably damaging	Het
Cish	T	A	9: 107,177,111 (GRCm39)		probably null	Het
Clip4	T	A	17: 72,106,072 (GRCm39)	I85K	probably damaging	Het
Cpsf2	T	A	12: 101,953,532 (GRCm39)	C187*	probably null	Het
Ddx51	C	A	5: 110,801,514 (GRCm39)	T54K	probably benign	Het
Drc1	A	T	5: 30,520,467 (GRCm39)	T603S	probably benign	Het
Eif3l	T	A	15: 78,973,995 (GRCm39)	M470K	possibly damaging	Het
Entpd2	A	G	2: 25,290,830 (GRCm39)	T445A	probably damaging	Het
Epha1	C	A	6: 42,341,944 (GRCm39)	V369L	possibly damaging	Het
Galnt9	T	A	5: 110,692,635 (GRCm39)	L23H	probably damaging	Het
Gm1110	A	G	9: 26,804,866 (GRCm39)	F399S	probably benign	Het
Gm43972	G	A	5: 25,866,119 (GRCm39)		noncoding transcript	Het
Gm6489	T	A	1: 31,326,351 (GRCm39)		noncoding transcript	Het
Grik5	A	T	7: 24,764,895 (GRCm39)	M82K	probably damaging	Het
Hibch	T	C	1: 52,904,767 (GRCm39)	Y121H	probably damaging	Het
Hyou1	T	A	9: 44,296,560 (GRCm39)	I495N	possibly damaging	Het
Il1rl2	T	C	1: 40,404,255 (GRCm39)	S459P	probably benign	Het
Kel	A	T	6: 41,665,048 (GRCm39)	L254*	probably null	Het
Lasp1	A	G	11: 97,690,686 (GRCm39)	K23E	probably damaging	Het
Lemd2	C	A	17: 27,422,773 (GRCm39)	R207L	possibly damaging	Het
Myh1	A	T	11: 67,106,051 (GRCm39)	Q1222L	probably benign	Het
Myh2	G	A	11: 67,083,269 (GRCm39)	V1411I	probably benign	Het
Myo1f	T	C	17: 33,820,709 (GRCm39)	F851L	probably benign	Het
Myom3	G	A	4: 135,528,303 (GRCm39)		probably benign	Het
Nbas	C	A	12: 13,491,519 (GRCm39)	L1464I	probably benign	Het
Nrxn1	T	C	17: 91,011,537 (GRCm39)	D364G	probably damaging	Het
Or2y1	A	G	11: 49,385,555 (GRCm39)	H65R	possibly damaging	Het
Or5p68	T	A	7: 107,945,853 (GRCm39)	T112S	probably benign	Het
Or8g54	T	A	9: 39,707,492 (GRCm39)	S274T	probably damaging	Het
Or9g4b	T	G	2: 85,616,002 (GRCm39)	I49S	probably damaging	Het
Otog	T	A	7: 45,936,859 (GRCm39)	S1523T	probably benign	Het
Pcnx2	A	T	8: 126,587,821 (GRCm39)		probably null	Het
Pkdcc	C	A	17: 83,523,413 (GRCm39)	H173Q	probably damaging	Het
Pkn1	A	G	8: 84,410,811 (GRCm39)	L267P	probably damaging	Het
Polr1a	A	G	6: 71,890,021 (GRCm39)	H80R	probably damaging	Het
Pwwp3a	C	T	10: 80,064,255 (GRCm39)	R14*	probably null	Het
Rag1	G	T	2: 101,473,300 (GRCm39)	A614E	possibly damaging	Het
Ryr1	T	C	7: 28,735,553 (GRCm39)	D4075G	probably damaging	Het
Sdk2	C	A	11: 113,758,859 (GRCm39)	R455L	probably damaging	Het
Smoc2	A	G	17: 14,589,227 (GRCm39)	N232S	probably benign	Het
Snd1	T	C	6: 28,545,524 (GRCm39)	L360P	probably damaging	Het
Tmem26	T	A	10: 68,587,096 (GRCm39)	F181L	probably damaging	Het
Tnrc6a	A	G	7: 122,785,842 (GRCm39)	M1512V	probably benign	Het
Tsc22d1	T	A	14: 76,655,852 (GRCm39)	I20N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r122	T	C	7: 20,868,023 (GRCm39)	T11A	possibly damaging	Het
Vpreb1a	A	T	16: 16,686,592 (GRCm39)	Y99*	probably null	Het
Wnt9b	A	T	11: 103,622,054 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,693,559 (GRCm39)	E604G	probably damaging	Het

Other mutations in Nr2e3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02045:Nr2e3	APN	9	59,856,291 (GRCm39)	missense	probably benign	0.14
R1448:Nr2e3	UTSW	9	59,850,797 (GRCm39)	missense	probably damaging	1.00
R1521:Nr2e3	UTSW	9	59,856,488 (GRCm39)	missense	probably damaging	0.99
R1657:Nr2e3	UTSW	9	59,856,050 (GRCm39)	missense	probably benign	0.08
R1819:Nr2e3	UTSW	9	59,850,720 (GRCm39)	missense	probably damaging	1.00
R1953:Nr2e3	UTSW	9	59,857,079 (GRCm39)	missense	probably benign	0.23
R3919:Nr2e3	UTSW	9	59,850,723 (GRCm39)	missense	probably damaging	1.00
R3925:Nr2e3	UTSW	9	59,855,716 (GRCm39)	missense	probably damaging	1.00
R4654:Nr2e3	UTSW	9	59,856,355 (GRCm39)	intron	probably benign
R5310:Nr2e3	UTSW	9	59,856,617 (GRCm39)	intron	probably benign
R5586:Nr2e3	UTSW	9	59,856,484 (GRCm39)	missense	probably damaging	0.99
R5811:Nr2e3	UTSW	9	59,850,701 (GRCm39)	small deletion	probably benign
R5812:Nr2e3	UTSW	9	59,850,701 (GRCm39)	small deletion	probably benign
R5813:Nr2e3	UTSW	9	59,850,701 (GRCm39)	small deletion	probably benign
R7267:Nr2e3	UTSW	9	59,855,972 (GRCm39)	missense	possibly damaging	0.68
R7467:Nr2e3	UTSW	9	59,856,434 (GRCm39)	splice site	probably null
R7642:Nr2e3	UTSW	9	59,854,671 (GRCm39)	missense	possibly damaging	0.78
R7999:Nr2e3	UTSW	9	59,856,282 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGAGATCTCTCTGTGTCTCAAG -3'
(R):5'- TAAAGATGGATGCATCGGTTGG -3'

Sequencing Primer
(F):5'- GAGATCTCTCTGTGTCTCAAGAGCAC -3'
(R):5'- TTGGGCCCAGCAACTTCTAG -3'

Posted On

2016-07-06