Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Nr2e3'

438724

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

043140-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5586 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

59850054-59867942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59856484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 69 (R69G)

Ref Sequence

ENSEMBL: ENSMUSP00000034831 (fasta)

Gene Model

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

AlphaFold

Q9QXZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034831
AA Change: R69G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034831
Gene: ENSMUSG00000032292
AA Change: R69G

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: ENSMUST00000156845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144391

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,277,153 (GRCm39)		noncoding transcript	Het
Aaas	A	T	15: 102,255,111 (GRCm39)		probably null	Het
Abcc3	G	A	11: 94,255,247 (GRCm39)	R600W	probably damaging	Het
Abhd13	A	T	8: 10,038,318 (GRCm39)	Q305L	probably benign	Het
Adcy5	A	T	16: 34,977,486 (GRCm39)	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,871,994 (GRCm39)	I964N	probably damaging	Het
Anks1b	T	A	10: 89,912,926 (GRCm39)	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,554,964 (GRCm39)	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,410,599 (GRCm39)	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,566,695 (GRCm39)	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,502,559 (GRCm39)	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,218,949 (GRCm39)	S220P	probably damaging	Het
Bcl6	A	G	16: 23,791,926 (GRCm39)	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811 (GRCm39)	T165S	probably benign	Het
Ccdc66	C	A	14: 27,228,668 (GRCm39)	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,453,484 (GRCm39)	I344V	probably benign	Het
Cdh19	T	A	1: 110,857,587 (GRCm39)	D249V	probably damaging	Het
Ces1c	T	A	8: 93,854,227 (GRCm39)	T103S	probably benign	Het
Cfap54	T	A	10: 92,808,473 (GRCm39)	K1401*	probably null	Het
Copa	T	A	1: 171,932,789 (GRCm39)	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,616,437 (GRCm39)	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,504,928 (GRCm39)	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,623,862 (GRCm39)		probably benign	Het
Dido1	C	T	2: 180,301,445 (GRCm39)	W2153*	probably null	Het
Dlgap1	T	A	17: 71,125,156 (GRCm39)	V969D	probably damaging	Het
Dvl3	A	G	16: 20,336,039 (GRCm39)	D32G	probably damaging	Het
Epdr1	T	C	13: 19,778,718 (GRCm39)	D24G	probably benign	Het
Etnk2	T	A	1: 133,307,043 (GRCm39)		probably null	Het
Fhad1	C	T	4: 141,632,442 (GRCm39)	M1232I	probably benign	Het
Gcnt2	A	C	13: 41,014,429 (GRCm39)	E200A	probably damaging	Het
Gm5174	A	G	10: 86,492,409 (GRCm39)		noncoding transcript	Het
Gm6408	T	A	5: 146,421,267 (GRCm39)	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,000 (GRCm39)	Y301*	probably null	Het
Gucy2e	G	T	11: 69,117,082 (GRCm39)	P780T	probably damaging	Het
Icam5	A	T	9: 20,946,116 (GRCm39)	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,677 (GRCm39)	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,264,411 (GRCm39)		probably benign	Het
Kif3c	A	T	12: 3,439,656 (GRCm39)	I86F	probably benign	Het
Klhdc2	A	G	12: 69,354,467 (GRCm39)		probably null	Het
Mast2	A	G	4: 116,292,760 (GRCm39)	L9P	probably damaging	Het
Mcoln1	G	T	8: 3,560,389 (GRCm39)	C316F	probably damaging	Het
Mon1a	A	T	9: 107,775,894 (GRCm39)	D4V	probably damaging	Het
Ms4a18	T	A	19: 10,991,038 (GRCm39)	M19L	probably benign	Het
Nbea	T	C	3: 55,539,392 (GRCm39)	K2790E	probably benign	Het
Niban1	C	T	1: 151,593,307 (GRCm39)	T664I	probably benign	Het
Noc3l	C	T	19: 38,803,139 (GRCm39)	E167K	possibly damaging	Het
Nol10	G	A	12: 17,466,829 (GRCm39)	E570K	possibly damaging	Het
Obscn	G	A	11: 58,892,294 (GRCm39)	R1358*	probably null	Het
Or14j4	A	T	17: 37,921,145 (GRCm39)	F166I	probably damaging	Het
Or2b7	C	A	13: 21,739,266 (GRCm39)	V309F	probably damaging	Het
Or52e8b	A	G	7: 104,673,428 (GRCm39)	I253T	probably damaging	Het
Or5b117	A	T	19: 13,431,746 (GRCm39)	M45K	probably benign	Het
Pak2	A	T	16: 31,860,337 (GRCm39)	D175E	probably benign	Het
Pccb	C	T	9: 100,867,856 (GRCm39)	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,442,034 (GRCm39)	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,534,167 (GRCm39)	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,570,758 (GRCm39)		probably benign	Het
Ppp4r1	A	G	17: 66,131,563 (GRCm39)	D452G	probably benign	Het
Pramel18	T	A	4: 101,767,317 (GRCm39)	F189I	probably benign	Het
Prmt3	T	A	7: 49,476,499 (GRCm39)	D369E	probably damaging	Het
Psmd12	T	A	11: 107,377,301 (GRCm39)	V120D	probably benign	Het
Ptprb	T	C	10: 116,189,732 (GRCm39)	L1797P	probably damaging	Het
Ptprm	A	G	17: 67,227,191 (GRCm39)	S653P	probably damaging	Het
Pxdn	T	A	12: 30,053,141 (GRCm39)	V926D	probably damaging	Het
Retreg3	T	G	11: 100,997,165 (GRCm39)	Q105P	probably damaging	Het
Sacs	A	T	14: 61,443,890 (GRCm39)	R1979*	probably null	Het
Scn2a	T	A	2: 65,537,639 (GRCm39)	L696*	probably null	Het
Sema3c	A	T	5: 17,916,422 (GRCm39)	N465Y	probably damaging	Het
Slc25a32	A	T	15: 38,963,308 (GRCm39)	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,783,700 (GRCm39)	V158I	probably benign	Het
Slc44a5	G	A	3: 153,975,802 (GRCm39)		probably benign	Het
Slc4a8	A	G	15: 100,685,045 (GRCm39)	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,397,532 (GRCm39)	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,040,372 (GRCm39)	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,093,849 (GRCm39)	D256G	probably damaging	Het
Sst	A	T	16: 23,708,487 (GRCm39)	S115T	probably damaging	Het
Stimate	A	G	14: 30,592,776 (GRCm39)	K166E	probably damaging	Het
Surf1	T	C	2: 26,805,963 (GRCm39)		probably benign	Het
Synj1	A	T	16: 90,806,865 (GRCm39)		probably benign	Het
Tet1	C	A	10: 62,714,073 (GRCm39)	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,217,201 (GRCm39)	Y318*	probably null	Het
Tomm70a	A	G	16: 56,942,493 (GRCm39)	E90G	probably damaging	Het
Treml4	A	G	17: 48,571,927 (GRCm39)	D110G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,797,396 (GRCm39)	G283D	probably damaging	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Usp4	T	C	9: 108,233,661 (GRCm39)	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,802,255 (GRCm39)	C549W	probably damaging	Het
Vmn2r59	G	T	7: 41,695,105 (GRCm39)	Q436K	probably benign	Het
Wdr70	A	T	15: 7,913,769 (GRCm39)	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,188,609 (GRCm39)	I344V	probably benign	Het
Zfp423	T	A	8: 88,585,968 (GRCm39)	Q61L	possibly 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
R5239:Nr2e3	UTSW	9	59,857,059 (GRCm39)	splice site	probably benign
R5310:Nr2e3	UTSW	9	59,856,617 (GRCm39)	intron	probably benign
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'- CCTTATCCACTGGGCACATC -3'
(R):5'- CAGATCTAGTTTGAGGAACGTGG -3'

Sequencing Primer
(F):5'- ACTTGGCACCTGCAGAGGAC -3'
(R):5'- TCTAGTTTGAGGAACGTGGGAACC -3'

Posted On

2016-10-26