Mutagenetix > Incidental Mutations

Incidental Mutation 'R1944:Nr2e1'

216475

Institutional Source

Beutler Lab

Gene Symbol

Nr2e1

Ensembl Gene

ENSMUSG00000019803

Gene Name

nuclear receptor subfamily 2, group E, member 1

Synonyms

Mtll, Tlx, tailless, Nr2e1

MMRRC Submission

039962-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R1944 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42561963-42583632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42572778 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 155 (T155A)

Ref Sequence

ENSEMBL: ENSMUSP00000019938 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019938
AA Change: T155A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: T155A

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

SMART Domains

Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803

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: 98.4%
10x: 96.7%
20x: 93.9%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,930,796	N593Y	probably damaging	Het
Adamts16	C	T	13: 70,791,886	S406N	possibly damaging	Het
Adgrg1	G	A	8: 95,007,300	V350I	probably damaging	Het
Adgrv1	A	T	13: 81,510,911	D2051E	probably damaging	Het
Adrb2	C	A	18: 62,179,413	V114L	probably damaging	Het
Ago3	A	G	4: 126,353,727	V599A	probably damaging	Het
AI837181	T	C	19: 5,426,229	V140A	probably damaging	Het
Ankrd16	T	A	2: 11,783,632		probably null	Het
Arnt2	A	G	7: 84,343,751	S194P	probably benign	Het
Art2b	T	C	7: 101,579,946	N249D	probably benign	Het
Atat1	A	G	17: 35,909,340	L60P	probably damaging	Het
Atp2b1	A	T	10: 99,022,931	I1159F	probably damaging	Het
Atrip	T	A	9: 109,071,867	I135F	probably damaging	Het
Bbs4	T	G	9: 59,330,415		probably null	Het
Bdp1	A	T	13: 100,074,381		probably null	Het
Best2	A	G	8: 85,010,761		probably null	Het
Cacna1c	A	G	6: 118,606,266	I1516T	probably damaging	Het
Cadps2	T	C	6: 23,599,480	I276V	probably damaging	Het
Carmil3	T	C	14: 55,498,630	S610P	probably damaging	Het
Caskin1	A	G	17: 24,500,771	I375V	probably damaging	Het
Ccdc92b	A	G	11: 74,630,009	I46V	probably benign	Het
Clec11a	G	T	7: 44,304,674	T285K	probably benign	Het
Clk3	G	T	9: 57,765,186	T111K	probably benign	Het
Col6a6	G	A	9: 105,709,384	R1813C	probably damaging	Het
Col7a1	G	A	9: 108,960,010	V798I	unknown	Het
Ctrb1	C	A	8: 111,689,519	W45L	probably damaging	Het
Cubn	T	A	2: 13,278,538	S3530C	probably benign	Het
Dio1	A	G	4: 107,306,780		probably null	Het
Dock5	A	T	14: 67,757,135	Y1825*	probably null	Het
Duox1	A	T	2: 122,346,520	Q1476L	probably damaging	Het
Dync2h1	A	T	9: 7,001,377	H3877Q	probably damaging	Het
Enkd1	A	G	8: 105,707,576	S85P	probably damaging	Het
Erap1	A	G	13: 74,646,639	D139G	probably benign	Het
Ern1	A	G	11: 106,421,950	S202P	probably damaging	Het
F11r	T	C	1: 171,461,891	Y261H	probably damaging	Het
Fam129a	T	C	1: 151,696,228	I308T	probably damaging	Het
Glp2r	A	T	11: 67,746,792	S138T	probably benign	Het
Gm11127	A	G	17: 36,058,005	F61S	probably damaging	Het
Gm765	A	G	6: 98,248,190	I44T	probably benign	Het
Gm8251	G	A	1: 44,061,849	P30S	probably damaging	Het
Gpt2	A	G	8: 85,517,996	Y306C	probably damaging	Het
Grid2	G	C	6: 63,909,061	R147P	probably damaging	Het
Gtdc1	A	G	2: 44,752,186	F128L	possibly damaging	Het
Hacd4	T	C	4: 88,423,066	T154A	possibly damaging	Het
Heatr6	G	T	11: 83,769,220	L530F	probably damaging	Het
Hoxd8	A	T	2: 74,706,712	D256V	probably damaging	Het
Ints6	T	C	14: 62,693,640	N865D	probably benign	Het
Itpkc	G	T	7: 27,227,659	P277T	possibly damaging	Het
Klc4	T	C	17: 46,636,627	N383S	probably damaging	Het
Klra6	T	C	6: 130,018,945	Y150C	possibly damaging	Het
Krt32	T	A	11: 100,084,844		probably null	Het
Krt33a	T	C	11: 100,012,709	N199S	probably benign	Het
Krt39	A	C	11: 99,519,823	D174E	probably damaging	Het
Krt82	G	A	15: 101,548,535	R137W	probably damaging	Het
Lgmn	A	T	12: 102,401,924	S193T	probably damaging	Het
Limch1	G	A	5: 66,999,099	R300H	probably damaging	Het
Lrpap1	T	A	5: 35,097,630	I221F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Macf1	T	C	4: 123,370,666	D4883G	probably damaging	Het
Man2b2	A	G	5: 36,816,180	V485A	probably benign	Het
Map3k19	T	C	1: 127,823,122	T831A	probably benign	Het
Megf6	C	G	4: 154,256,066	D471E	possibly damaging	Het
Mettl8	A	T	2: 70,973,279	F268L	probably damaging	Het
Miip	T	C	4: 147,865,965	E58G	probably benign	Het
Mycbp2	T	A	14: 103,229,404	S1308C	probably damaging	Het
Myo15	T	C	11: 60,502,083	F2194L	probably damaging	Het
Nav3	T	C	10: 109,716,530	N1817S	probably damaging	Het
Ndel1	A	T	11: 68,829,920	H313Q	probably benign	Het
Neb	A	T	2: 52,228,850	H3931Q	probably benign	Het
Nfkb2	T	A	19: 46,308,052	V253E	probably damaging	Het
Nono	T	C	X: 101,441,823		probably null	Het
Npc1l1	T	A	11: 6,214,588	I1154F	possibly damaging	Het
Olfr1359	A	T	13: 21,703,117	I39F	possibly damaging	Het
Oosp2	C	T	19: 11,649,595		probably null	Het
Pdap1	G	A	5: 145,132,916	T93I	probably benign	Het
Pde6c	T	A	19: 38,157,519	D418E	probably damaging	Het
Pdha1	T	A	X: 160,127,358	D255V	probably damaging	Het
Polr2h	T	A	16: 20,719,046	D64E	probably benign	Het
Psmb3	T	C	11: 97,711,155	F117S	probably benign	Het
Ptprq	A	T	10: 107,582,388	M1709K	probably benign	Het
Rbm15	C	T	3: 107,331,552	R510H	probably damaging	Het
Rgs7	A	T	1: 175,153,203	M85K	possibly damaging	Het
Rpl27-ps3	T	A	18: 6,332,669	V13D	probably damaging	Het
Rtp2	T	A	16: 23,927,566	D105V	possibly damaging	Het
Scd3	T	C	19: 44,235,780	Y151H	probably benign	Het
Slc30a6	T	G	17: 74,408,863	V106G	probably damaging	Het
Slco1a4	T	C	6: 141,839,550	I105V	probably benign	Het
Sun3	T	C	11: 9,038,296	I9V	probably benign	Het
Syne2	T	C	12: 76,074,544	V5928A	probably damaging	Het
Tbr1	T	A	2: 61,812,256	S622T	probably damaging	Het
Tgm3	A	G	2: 130,029,969	N306D	probably damaging	Het
Tmem132d	A	G	5: 127,783,764	*1098Q	probably null	Het
Tmem140	T	C	6: 34,872,812	Y88H	probably damaging	Het
Trim60	A	T	8: 65,001,312	V95E	possibly damaging	Het
Vamp3	A	G	4: 151,056,160		probably null	Het
Vmn1r235	A	C	17: 21,261,523	T37P	probably damaging	Het
Vmn2r81	T	G	10: 79,293,737	L821V	probably damaging	Het
Vmn2r97	A	G	17: 18,940,238	D545G	probably benign	Het
Vps13c	A	T	9: 67,886,276	D437V	probably damaging	Het
Wtip	A	T	7: 34,118,938	M268K	probably benign	Het
Zfhx2	G	T	14: 55,074,732	F168L	probably benign	Het
Zscan22	G	A	7: 12,903,840	R53K	probably damaging	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
IGL02272:Nr2e1	APN	10	42567979	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGCATCTTTGGCTCAACAGAAG -3'
(R):5'- TTGTCTCTGTAGCCGTGCAG -3'

Sequencing Primer
(F):5'- CTCAACAGAAGGAGCAAGAGACTC -3'
(R):5'- TCGGACGTCCACCATCC -3'

Posted On

2014-08-01