Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Nr2e1'

250233

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

040388-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42437959-42459628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42439481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 134 (L134P)

Ref Sequence

ENSEMBL: ENSMUSP00000101137 (fasta)

Gene Model

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

AlphaFold

Q64104

Predicted Effect

probably damaging
Transcript: ENSMUST00000019938
AA Change: L346P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: L346P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105498
AA Change: L134P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: L134P

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,882,446 (GRCm39)	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,075,025 (GRCm39)	V131I	probably benign	Het
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,071,650 (GRCm39)	V324A	probably damaging	Het
Ahnak	A	T	19: 8,980,215 (GRCm39)	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,266 (GRCm39)	D851G	probably damaging	Het
Amot	T	C	X: 144,259,287 (GRCm39)	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,106,138 (GRCm39)	E161*	probably null	Het
Atg9b	A	T	5: 24,591,992 (GRCm39)	I669N	probably damaging	Het
Ccdc83	A	G	7: 89,877,639 (GRCm39)	Y268H	probably damaging	Het
Cep170	A	G	1: 176,602,201 (GRCm39)	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,428,213 (GRCm39)	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,770,813 (GRCm39)	Y231F	probably benign	Het
Defa39	T	G	8: 22,192,653 (GRCm39)	K114N	possibly damaging	Het
Dock3	A	T	9: 106,791,740 (GRCm39)	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,469,861 (GRCm39)	I629N	probably damaging	Het
Dst	A	T	1: 34,231,893 (GRCm39)	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,383,906 (GRCm39)	P343L	probably benign	Het
Fbrs	A	G	7: 127,086,511 (GRCm39)		probably null	Het
Fbxl13	A	C	5: 21,727,135 (GRCm39)	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,534,673 (GRCm39)	S164T	probably damaging	Het
Gdi2	T	G	13: 3,612,034 (GRCm39)	S330A	probably benign	Het
Gm5878	A	T	6: 85,095,613 (GRCm39)	M70K	probably benign	Het
H2-Q6	G	T	17: 35,643,913 (GRCm39)	A21S	probably benign	Het
Hfm1	A	T	5: 106,995,519 (GRCm39)		probably null	Het
Hnmt	C	T	2: 23,909,167 (GRCm39)	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,485,779 (GRCm39)	A310D	probably damaging	Het
Ints1	A	T	5: 139,757,569 (GRCm39)		probably null	Het
Kcne4	C	A	1: 78,795,688 (GRCm39)	A112E	possibly damaging	Het
Krt32	T	C	11: 99,977,192 (GRCm39)	K236R	possibly damaging	Het
Maml2	T	C	9: 13,617,794 (GRCm39)	L380P	probably damaging	Het
Meis1	A	T	11: 18,938,356 (GRCm39)	D218E	possibly damaging	Het
Mon1b	G	A	8: 114,365,752 (GRCm39)	G360D	probably damaging	Het
Mpp4	A	G	1: 59,169,216 (GRCm39)	S383P	probably damaging	Het
Neb	A	G	2: 52,059,065 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,717,912 (GRCm39)	I431N	probably damaging	Het
Opcml	G	A	9: 28,814,663 (GRCm39)		probably null	Het
Or2t29	A	T	11: 58,433,920 (GRCm39)	Y127*	probably null	Het
Or6c207	T	C	10: 129,105,135 (GRCm39)	Q19R	probably benign	Het
Or7c19	T	C	8: 85,957,693 (GRCm39)	S190P	probably damaging	Het
Pate2	A	T	9: 35,581,776 (GRCm39)		probably null	Het
Pgr	G	A	9: 8,900,718 (GRCm39)	V84M	probably damaging	Het
Pigu	A	T	2: 155,141,002 (GRCm39)	V296D	probably damaging	Het
Plcb2	G	A	2: 118,546,130 (GRCm39)	T555M	probably damaging	Het
Pld5	T	G	1: 175,791,542 (GRCm39)	D426A	probably benign	Het
Prdm2	G	T	4: 142,838,320 (GRCm39)	C1679*	probably null	Het
Psme2b	A	T	11: 48,836,890 (GRCm39)	V19D	probably benign	Het
Ptpn9	A	T	9: 56,934,712 (GRCm39)	N159Y	possibly damaging	Het
Sanbr	T	A	11: 23,526,801 (GRCm39)	R190W	probably damaging	Het
Sdc3	A	T	4: 130,546,114 (GRCm39)	T64S	unknown	Het
Serping1	T	G	2: 84,600,563 (GRCm39)	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,050,150 (GRCm39)	F436S	probably benign	Het
Sntb1	A	T	15: 55,769,575 (GRCm39)	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spink1	G	T	18: 43,868,287 (GRCm39)	S23*	probably null	Het
Stag1	T	C	9: 100,727,169 (GRCm39)		probably null	Het
Tnfaip8l1	G	A	17: 56,479,030 (GRCm39)	V107I	probably benign	Het
Tnik	A	G	3: 28,700,830 (GRCm39)	S907G	probably damaging	Het
Ttf1	T	A	2: 28,957,197 (GRCm39)	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp54	G	A	14: 20,615,008 (GRCm39)	A811V	probably benign	Het
Xirp2	A	G	2: 67,344,815 (GRCm39)	N2352S	probably benign	Het
Zan	T	C	5: 137,387,254 (GRCm39)	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,254,012 (GRCm39)	S161P	probably benign	Het
Zkscan5	A	T	5: 145,157,750 (GRCm39)	I751L	probably benign	Het
Zscan4d	A	G	7: 10,899,022 (GRCm39)	F85S	probably damaging	Het
Zzef1	A	G	11: 72,806,091 (GRCm39)	M2647V	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
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
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'- TGACCTGCATGTAGATGTCC -3'
(R):5'- TCCAGTAGTCATCCTGTGAAACAG -3'

Sequencing Primer
(F):5'- AGATGTCCATCTAATACTGCCC -3'
(R):5'- AGAGGCACCTGTCCTGAAGTC -3'

Posted On

2014-11-12