Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02272:Nr2e1'

287210

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nr2e1

Ensembl Gene

ENSMUSG00000019803

Gene Name

nuclear receptor subfamily 2, group E, member 1

Synonyms

Mtll, Tlx, tailless, Nr2e1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.858) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

42561963-42583632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 42567979 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 249 (N249T)

Ref Sequence

ENSEMBL: ENSMUSP00000019938 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019938
AA Change: N249T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: N249T

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: N37T

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: N37T

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,450,021	C759*	probably null	Het
Adgrg6	T	A	10: 14,468,829	M127L	probably damaging	Het
AI314180	A	T	4: 58,811,731	N1439K	probably benign	Het
Anxa9	A	G	3: 95,305,894	V47A	probably benign	Het
Arhgef12	T	A	9: 43,001,452	D483V	probably damaging	Het
Arrdc3	C	A	13: 80,891,650		probably benign	Het
Ccdc169	A	G	3: 55,150,748	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,960,022	V731D	possibly damaging	Het
Cdh3	G	T	8: 106,547,836		probably null	Het
Cntnap1	G	A	11: 101,178,316	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,757,411	V852E	probably damaging	Het
Csmd1	A	T	8: 16,199,893	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,993,265		probably benign	Het
Dusp6	T	A	10: 99,266,019	V289D	probably damaging	Het
Epha6	C	T	16: 59,818,937	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,779,704	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,269,803	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,164,781	V152E	probably benign	Het
Hmces	A	G	6: 87,917,855		probably null	Het
Hsph1	A	G	5: 149,617,530	S852P	probably benign	Het
Kat6b	A	C	14: 21,626,778	K394Q	probably damaging	Het
Kdr	G	A	5: 75,961,840	T475I	probably benign	Het
Klhl25	A	G	7: 75,866,620	T425A	probably benign	Het
Klk1b8	T	A	7: 43,952,793	C50S	probably damaging	Het
Kri1	T	C	9: 21,276,168	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,305,769	S953P	probably benign	Het
Lpin1	A	G	12: 16,547,600	V681A	probably damaging	Het
Lpin3	A	G	2: 160,901,661	T508A	probably benign	Het
Moxd1	T	A	10: 24,282,700	Y417*	probably null	Het
Mthfd1l	T	G	10: 4,041,812	I588S	probably damaging	Het
Myo5c	C	A	9: 75,266,160	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,884,600		probably benign	Het
Nme8	T	C	13: 19,658,826	Y393C	probably damaging	Het
Pex11g	A	G	8: 3,465,898	V45A	probably benign	Het
Pkhd1	C	A	1: 20,209,260	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,993,628	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,236,489	V353A	probably damaging	Het
Prss16	T	A	13: 22,003,035	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,721,208	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,716,566	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,598,782	L598F	probably damaging	Het
Sardh	T	G	2: 27,224,991	D550A	probably benign	Het
Serpinc1	T	G	1: 160,999,992	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,121,167	D650V	probably benign	Het
Sipa1l2	T	A	8: 125,492,011	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,583,568	T294A	probably benign	Het
Srrm2	T	C	17: 23,815,782		probably benign	Het
Steap2	T	A	5: 5,677,612	N241I	probably benign	Het
Tcaf3	T	C	6: 42,596,660	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,978,463	Q322L	probably damaging	Het
Tnni2	C	A	7: 142,443,429	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,735,028	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,976,153	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071	K331N	probably damaging	Het
Usp50	G	A	2: 126,769,944	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,385,999	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,386,004	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,786,884	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,750,693	R383G	probably benign	Het

Other mutations in Nr2e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Nr2e1	APN	10	42568453	missense	probably damaging	1.00
IGL01936:Nr2e1	APN	10	42567973	missense	possibly damaging	0.90
IGL03092:Nr2e1	APN	10	42571482	missense	probably damaging	1.00
IGL03405:Nr2e1	APN	10	42568381	missense	probably damaging	1.00
Dubious	UTSW	10	42571487	nonsense	probably null
BB010:Nr2e1	UTSW	10	42563383	missense	probably damaging	1.00
BB020:Nr2e1	UTSW	10	42563383	missense	probably damaging	1.00
R1581:Nr2e1	UTSW	10	42567968	missense	probably benign	0.12
R1807:Nr2e1	UTSW	10	42582909	splice site	probably null
R1879:Nr2e1	UTSW	10	42568371	critical splice donor site	probably null
R1944:Nr2e1	UTSW	10	42572778	missense	probably benign
R2426:Nr2e1	UTSW	10	42563485	missense	probably damaging	1.00
R2842:Nr2e1	UTSW	10	42568445	missense	probably damaging	0.99
R4515:Nr2e1	UTSW	10	42578191	missense	probably benign
R5305:Nr2e1	UTSW	10	42571487	nonsense	probably null
R5316:Nr2e1	UTSW	10	42571491	missense	probably benign	0.10
R5325:Nr2e1	UTSW	10	42572784	missense	probably damaging	1.00
R5908:Nr2e1	UTSW	10	42572769	missense	probably benign
R7040:Nr2e1	UTSW	10	42568378	missense	probably damaging	0.99
R7593:Nr2e1	UTSW	10	42563479	missense	probably damaging	1.00
R7765:Nr2e1	UTSW	10	42574437	missense	probably benign	0.32
R7933:Nr2e1	UTSW	10	42563383	missense	probably damaging	1.00
R8158:Nr2e1	UTSW	10	42582885	missense	probably benign	0.00
R8342:Nr2e1	UTSW	10	42568429	missense	probably damaging	1.00
Z1177:Nr2e1	UTSW	10	42568427	missense	probably damaging	1.00

Posted On

2015-04-16