Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Nr2e1'

180686

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

tailless, Mtll, Tlx, Nr2e1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

42437959-42459628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42443969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 251 (D251V)

Ref Sequence

ENSEMBL: ENSMUSP00000019938 (fasta)

Gene Model

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

AlphaFold

Q64104

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019938
AA Change: D251V

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: D251V

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: D39V

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: D39V

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
C3ar1	T	A	6: 122,828,194 (GRCm39)	T8S	probably benign	Het
Caskin2	T	C	11: 115,695,543 (GRCm39)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Col7a1	T	A	9: 108,797,067 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Ctcf	T	C	8: 106,396,864 (GRCm39)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm39)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Hyls1	T	C	9: 35,473,363 (GRCm39)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,868,708 (GRCm39)	G350C	probably damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Rab40c	A	C	17: 26,103,644 (GRCm39)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	probably damaging	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
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
R1581:Nr2e1	UTSW	10	42,443,964 (GRCm39)	missense	probably benign	0.12
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

Posted On

2014-05-07