Mutagenetix > Incidental Mutation

Incidental Mutation 'R1657:Nr2e3'

186467

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

039693-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59850054-59867942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59856050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 129 (E129G)

Ref Sequence

ENSEMBL: ENSMUSP00000034831 (fasta)

Gene Model

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

AlphaFold

Q9QXZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000034831
AA Change: E129G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034831
Gene: ENSMUSG00000032292
AA Change: E129G

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: ENSMUST00000147892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156845

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

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
Acaca	T	G	11: 84,154,910 (GRCm39)	D988E	probably benign	Het
Als2	A	G	1: 59,219,760 (GRCm39)	V1185A	probably damaging	Het
Amdhd2	A	G	17: 24,375,029 (GRCm39)	V391A	probably damaging	Het
Armh4	G	C	14: 50,011,017 (GRCm39)	T230S	probably damaging	Het
Caprin1	A	T	2: 103,599,851 (GRCm39)	V608E	probably damaging	Het
Celsr3	T	A	9: 108,720,151 (GRCm39)	C2512*	probably null	Het
Cfl1	A	T	19: 5,543,583 (GRCm39)	R187W	probably damaging	Het
Cgnl1	C	T	9: 71,633,226 (GRCm39)	V42I	probably damaging	Het
Chd2	A	G	7: 73,130,178 (GRCm39)	Y826H	probably damaging	Het
Col9a2	C	A	4: 120,898,171 (GRCm39)	P28T	unknown	Het
Cyp3a44	G	A	5: 145,716,553 (GRCm39)	P346S	probably damaging	Het
Dact2	A	G	17: 14,418,252 (GRCm39)	V151A	probably benign	Het
Dhx29	T	C	13: 113,089,377 (GRCm39)	I716T	probably damaging	Het
Entrep1	C	A	19: 23,952,999 (GRCm39)	C437F	probably damaging	Het
Esam	T	C	9: 37,448,917 (GRCm39)	S342P	probably damaging	Het
Fer1l4	A	G	2: 155,877,518 (GRCm39)	V1053A	possibly damaging	Het
Grk3	A	G	5: 113,114,848 (GRCm39)	F124S	probably damaging	Het
H2-DMa	G	A	17: 34,356,373 (GRCm39)		probably null	Het
Hsd3b5	T	A	3: 98,527,036 (GRCm39)	I137F	possibly damaging	Het
Itgav	A	T	2: 83,632,123 (GRCm39)	I902F	probably benign	Het
Itsn1	G	T	16: 91,706,111 (GRCm39)	C179F	probably damaging	Het
Kcnh8	G	A	17: 53,146,153 (GRCm39)	R347H	probably damaging	Het
Kif9	T	C	9: 110,319,034 (GRCm39)	M166T	possibly damaging	Het
Kmt5c	C	T	7: 4,749,453 (GRCm39)	Q324*	probably null	Het
Lcn9	G	A	2: 25,714,722 (GRCm39)	E154K	probably benign	Het
Mfge8	A	T	7: 78,791,521 (GRCm39)	L227Q	probably benign	Het
Mroh2b	A	T	15: 4,960,525 (GRCm39)	R753*	probably null	Het
Mtif2	G	A	11: 29,490,721 (GRCm39)	R475Q	probably benign	Het
Nln	C	T	13: 104,173,455 (GRCm39)	V584I	possibly damaging	Het
Ocstamp	T	C	2: 165,239,436 (GRCm39)	D250G	probably damaging	Het
Or1a1	A	T	11: 74,086,722 (GRCm39)	H131L	probably damaging	Het
Or52n4b	T	C	7: 108,144,584 (GRCm39)	I284T	possibly damaging	Het
Or8k27	A	C	2: 86,275,562 (GRCm39)	L255V	probably damaging	Het
Pld1	A	T	3: 28,125,336 (GRCm39)	I417L	probably benign	Het
Polr1a	A	T	6: 71,918,519 (GRCm39)	K692N	probably damaging	Het
Qsox2	A	T	2: 26,110,759 (GRCm39)	Y152*	probably null	Het
Rpap1	T	C	2: 119,614,259 (GRCm39)	D46G	possibly damaging	Het
Rpe65	A	G	3: 159,320,085 (GRCm39)	T246A	probably damaging	Het
Scn5a	T	C	9: 119,391,446 (GRCm39)	D82G	probably damaging	Het
Sema3d	A	G	5: 12,634,941 (GRCm39)	E669G	possibly damaging	Het
Serpinb6c	T	C	13: 34,064,209 (GRCm39)	N282S	probably benign	Het
Snap47	A	T	11: 59,319,596 (GRCm39)	S181T	probably benign	Het
Snx9	A	C	17: 5,968,711 (GRCm39)	T336P	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Terb1	A	T	8: 105,215,123 (GRCm39)	D284E	possibly damaging	Het
Tmem266	C	T	9: 55,325,292 (GRCm39)	A153V	probably damaging	Het
Trappc2b	T	C	11: 51,576,505 (GRCm39)	Q131R	probably benign	Het
Ttn	T	C	2: 76,573,148 (GRCm39)	E25915G	possibly damaging	Het
Tubal3	A	G	13: 3,983,011 (GRCm39)	T264A	possibly damaging	Het
Vldlr	G	A	19: 27,223,070 (GRCm39)	R747Q	probably benign	Het
Zc3h8	G	T	2: 128,771,877 (GRCm39)		probably benign	Het
Zfp184	C	T	13: 22,143,443 (GRCm39)	T383M	probably damaging	Het
Zfp455	T	C	13: 67,346,703 (GRCm39)	F38S	possibly damaging	Het
Zfp746	A	G	6: 48,059,108 (GRCm39)	V167A	possibly damaging	Het
Zfp985	T	A	4: 147,668,567 (GRCm39)	N478K	probably benign	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
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
R5239:Nr2e3	UTSW	9	59,857,059 (GRCm39)	splice site	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'- TAGCACAAGTTTCGGCGGTGATAAG -3'
(R):5'- AGGGCAAACATATCCCAAGTCAAGG -3'

Sequencing Primer
(F):5'- CGGCGGTGATAAGGCTGG -3'
(R):5'- ATCGCAATCAGTGCCAGG -3'

Posted On

2014-05-09