Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Nr2e1'

171417

Institutional Source

Beutler Lab

Gene Symbol

Nr2e1

Ensembl Gene

ENSMUSG00000019803

Gene Name

nuclear receptor subfamily 2, group E, member 1

Synonyms

tailless, Mtll, Tlx, Nr2e1

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42437959-42459628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42443964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 253 (T253A)

Ref Sequence

ENSEMBL: ENSMUSP00000019938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019938] [ENSMUST00000105498]

AlphaFold

Q64104

Predicted Effect

probably benign
Transcript: ENSMUST00000019938
AA Change: T253A

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: T253A

Domain	Start	End	E-Value	Type
ZnF_C4	13	86	2.04e-36	SMART
HOLI	187	354	1.42e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105498
AA Change: T41A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: T41A

Domain	Start	End	E-Value	Type
HOLI	3	142	2.56e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126848

SMART Domains

Protein: ENSMUSP00000116439
Gene: ENSMUSG00000019803

Domain	Start	End	E-Value	Type
ZnF_C4	9	82	2.04e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143891

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes have small brains, hypoplasia of cerebrum and olfactory lobes, thin optic layers, reduced retinal vessels and hydrocephaly on some genetic backgrounds. Mutants do poorly in sensorimotor tests, are aggressive and females lack maternal behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,063,347 (GRCm39)	E447G	probably benign	Het
Actn4	T	C	7: 28,598,071 (GRCm39)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,133,153 (GRCm39)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,789,326 (GRCm39)		probably benign	Het
Bmyc	T	C	2: 25,597,346 (GRCm39)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Casc3	C	T	11: 98,713,644 (GRCm39)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm39)		probably null	Het
Cnnm2	A	G	19: 46,751,562 (GRCm39)	T451A	probably damaging	Het
Eed	T	C	7: 89,629,676 (GRCm39)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,220,383 (GRCm39)	M180K	probably benign	Het
Esr1	T	C	10: 4,947,905 (GRCm39)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,422,393 (GRCm39)	I207V	possibly damaging	Het
Fancg	G	A	4: 43,007,039 (GRCm39)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,293,030 (GRCm39)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,839,961 (GRCm39)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,816,626 (GRCm39)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 40,693,255 (GRCm39)	S408L	probably benign	Het
Gm9476	T	C	10: 100,142,474 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,127,836 (GRCm39)		probably null	Het
H6pd	T	A	4: 150,066,971 (GRCm39)	I472F	possibly damaging	Het
Hydin	A	T	8: 111,137,092 (GRCm39)	M632L	probably benign	Het
Hyou1	C	T	9: 44,300,167 (GRCm39)	P819S	probably damaging	Het
Il6st	A	G	13: 112,618,075 (GRCm39)	E163G	probably damaging	Het
Kcnk1	T	C	8: 126,722,278 (GRCm39)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,407,114 (GRCm39)		probably null	Het
Klk1b22	A	G	7: 43,765,399 (GRCm39)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,752,796 (GRCm39)	D3G	probably benign	Het
Lpp	C	A	16: 24,500,591 (GRCm39)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,347,843 (GRCm39)	R2951*	probably null	Het
Luzp2	T	A	7: 54,899,238 (GRCm39)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,158,237 (GRCm39)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,462,289 (GRCm39)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,659,289 (GRCm39)	D776G	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or1r1	A	T	11: 73,875,347 (GRCm39)	L29H	probably damaging	Het
Padi6	T	C	4: 140,463,147 (GRCm39)	Y146C	probably damaging	Het
Pank4	C	T	4: 155,059,108 (GRCm39)	R414W	probably damaging	Het
Pclo	T	G	5: 14,571,296 (GRCm39)	I227S	probably benign	Het
Plppr4	A	G	3: 117,121,915 (GRCm39)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,425,568 (GRCm39)	R25C	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,362,022 (GRCm39)	T192A	probably benign	Het
Rtbdn	A	G	8: 85,681,695 (GRCm39)	E131G	probably benign	Het
Ryr2	A	G	13: 11,809,449 (GRCm39)	V792A	probably benign	Het
Sacs	G	T	14: 61,451,128 (GRCm39)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,286,538 (GRCm39)	S123G	probably benign	Het
Septin9	A	G	11: 117,181,421 (GRCm39)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 126,218,356 (GRCm39)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,053,505 (GRCm39)	T127A	probably damaging	Het
Sphk2	A	G	7: 45,362,920 (GRCm39)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,243 (GRCm39)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,455,717 (GRCm39)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm39)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,630,074 (GRCm39)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,523,913 (GRCm39)	S191R	probably benign	Het
Ttll1	C	T	15: 83,380,478 (GRCm39)	V296M	probably damaging	Het
Upp2	A	C	2: 58,664,177 (GRCm39)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,640 (GRCm39)	C780R	probably damaging	Het
Wars1	C	A	12: 108,841,635 (GRCm39)	E171*	probably null	Het
Zeb2	A	T	2: 44,887,012 (GRCm39)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,595,549 (GRCm39)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,392,033 (GRCm39)	L442Q	probably benign	Het

Other mutations in Nr2e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Nr2e1	APN	10	42,444,449 (GRCm39)	missense	probably damaging	1.00
IGL01936:Nr2e1	APN	10	42,443,969 (GRCm39)	missense	possibly damaging	0.90
IGL02272:Nr2e1	APN	10	42,443,975 (GRCm39)	missense	probably damaging	1.00
IGL03092:Nr2e1	APN	10	42,447,478 (GRCm39)	missense	probably damaging	1.00
IGL03405:Nr2e1	APN	10	42,444,377 (GRCm39)	missense	probably damaging	1.00
Dubious	UTSW	10	42,447,483 (GRCm39)	nonsense	probably null
BB010:Nr2e1	UTSW	10	42,439,379 (GRCm39)	missense	probably damaging	1.00
BB020:Nr2e1	UTSW	10	42,439,379 (GRCm39)	missense	probably damaging	1.00
R1807:Nr2e1	UTSW	10	42,458,905 (GRCm39)	splice site	probably null
R1879:Nr2e1	UTSW	10	42,444,367 (GRCm39)	critical splice donor site	probably null
R1944:Nr2e1	UTSW	10	42,448,774 (GRCm39)	missense	probably benign
R2426:Nr2e1	UTSW	10	42,439,481 (GRCm39)	missense	probably damaging	1.00
R2842:Nr2e1	UTSW	10	42,444,441 (GRCm39)	missense	probably damaging	0.99
R4515:Nr2e1	UTSW	10	42,454,187 (GRCm39)	missense	probably benign
R5305:Nr2e1	UTSW	10	42,447,483 (GRCm39)	nonsense	probably null
R5316:Nr2e1	UTSW	10	42,447,487 (GRCm39)	missense	probably benign	0.10
R5325:Nr2e1	UTSW	10	42,448,780 (GRCm39)	missense	probably damaging	1.00
R5908:Nr2e1	UTSW	10	42,448,765 (GRCm39)	missense	probably benign
R7040:Nr2e1	UTSW	10	42,444,374 (GRCm39)	missense	probably damaging	0.99
R7593:Nr2e1	UTSW	10	42,439,475 (GRCm39)	missense	probably damaging	1.00
R7765:Nr2e1	UTSW	10	42,450,433 (GRCm39)	missense	probably benign	0.32
R7933:Nr2e1	UTSW	10	42,439,379 (GRCm39)	missense	probably damaging	1.00
R8158:Nr2e1	UTSW	10	42,458,881 (GRCm39)	missense	probably benign	0.00
R8342:Nr2e1	UTSW	10	42,444,425 (GRCm39)	missense	probably damaging	1.00
R8916:Nr2e1	UTSW	10	42,443,864 (GRCm39)	missense	possibly damaging	0.94
R9145:Nr2e1	UTSW	10	42,448,948 (GRCm39)	missense	probably benign	0.02
R9189:Nr2e1	UTSW	10	42,454,268 (GRCm39)	missense	probably damaging	0.99
R9381:Nr2e1	UTSW	10	42,439,468 (GRCm39)	missense	probably damaging	1.00
R9499:Nr2e1	UTSW	10	42,447,487 (GRCm39)	missense	probably benign	0.10
R9552:Nr2e1	UTSW	10	42,447,487 (GRCm39)	missense	probably benign	0.10
Z1177:Nr2e1	UTSW	10	42,444,423 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGCAAGTTGCCAACCTTGGAATG -3'
(R):5'- CGCGGAACAATAGAGTCTACCTGTC -3'

Sequencing Primer
(F):5'- GGAATGTCACTTCTGTGAAAACACC -3'
(R):5'- CTGTGTTTGTTATCATCCAAGAGAAG -3'

Posted On

2014-04-13