Mutagenetix > Incidental Mutation

Incidental Mutation 'R8158:Nr2e1'

633378

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

067584-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R8158 (G1)

Quality Score

162.009

Status

Not validated

Chromosome

Chromosomal Location

42437959-42459628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42458881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 8 (T8A)

Ref Sequence

ENSEMBL: ENSMUSP00000019938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019938] [ENSMUST00000105497] [ENSMUST00000144806]

AlphaFold

Q64104

Predicted Effect

probably benign
Transcript: ENSMUST00000019938
AA Change: T8A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: T8A

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: ENSMUST00000105497

SMART Domains

Protein: ENSMUSP00000101136
Gene: ENSMUSG00000038280

Domain	Start	End	E-Value	Type
Pfam:OSTMP1	1	171	1.1e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144806

SMART Domains

Protein: ENSMUSP00000116534
Gene: ENSMUSG00000038280

Domain	Start	End	E-Value	Type
Pfam:OSTMP1	1	169	4.5e-68	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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
Abl2	T	A	1: 156,469,639 (GRCm39)	S968T	probably benign	Het
Adcy8	T	C	15: 64,655,655 (GRCm39)	D608G	probably benign	Het
Adgb	C	T	10: 10,254,478 (GRCm39)	V1162M	probably benign	Het
Agrn	A	G	4: 156,258,346 (GRCm39)	V1040A	probably benign	Het
Amer3	A	T	1: 34,626,741 (GRCm39)	T327S	possibly damaging	Het
Apaf1	C	T	10: 90,895,520 (GRCm39)	C426Y	probably benign	Het
Bsn	T	C	9: 107,987,232 (GRCm39)	D2840G	unknown	Het
Camsap1	A	T	2: 25,834,440 (GRCm39)	C406*	probably null	Het
Cbr2	A	T	11: 120,621,123 (GRCm39)	M158K	probably damaging	Het
Cgrrf1	T	C	14: 47,091,192 (GRCm39)	S239P	probably benign	Het
Clnk	C	A	5: 38,952,254 (GRCm39)		probably null	Het
Csad	T	C	15: 102,086,197 (GRCm39)	M445V	probably damaging	Het
Dnajb7	T	A	15: 81,291,600 (GRCm39)	N246Y	probably damaging	Het
Dok6	T	C	18: 89,492,071 (GRCm39)	I169V	probably benign	Het
H2bc14	T	C	13: 21,906,631 (GRCm39)	Y122H	probably benign	Het
Il1f10	T	G	2: 24,181,267 (GRCm39)	I11R	possibly damaging	Het
Irs1	C	T	1: 82,267,254 (GRCm39)	V321M	probably damaging	Het
Itga9	T	C	9: 118,706,211 (GRCm39)	F938L	probably damaging	Het
Kif7	T	C	7: 79,354,442 (GRCm39)	D781G	probably damaging	Het
Klhl41	A	T	2: 69,501,505 (GRCm39)	N322I	probably damaging	Het
Krtap31-1	T	G	11: 99,798,901 (GRCm39)	C35G	possibly damaging	Het
Lsm11	A	T	11: 45,824,824 (GRCm39)	D234E	probably benign	Het
Med6	T	C	12: 81,620,677 (GRCm39)	K223R	probably benign	Het
Mfsd4b2	G	A	10: 39,798,064 (GRCm39)	T97I	probably benign	Het
Mrgpra1	A	T	7: 46,985,204 (GRCm39)	C158*	probably null	Het
Oas2	T	C	5: 120,887,838 (GRCm39)	M1V	probably null	Het
Or13a27	T	C	7: 139,925,162 (GRCm39)	I247V	probably benign	Het
Or14a260	T	A	7: 85,984,885 (GRCm39)	I240F	probably benign	Het
Or1e33	T	A	11: 73,738,697 (GRCm39)	M85L	probably benign	Het
Or8k17	T	C	2: 86,066,504 (GRCm39)	Y218C	probably damaging	Het
Or8w1	T	A	2: 87,465,233 (GRCm39)	N286I	probably damaging	Het
Otof	C	T	5: 30,537,538 (GRCm39)	G1257D	probably benign	Het
Phf2	T	C	13: 48,971,236 (GRCm39)	T479A	probably benign	Het
Pik3c2a	T	C	7: 115,942,232 (GRCm39)	N1516S	probably benign	Het
Qrich1	C	A	9: 108,433,236 (GRCm39)	T622K	probably damaging	Het
Rasip1	A	G	7: 45,281,943 (GRCm39)	K482R	probably damaging	Het
Rgl2	T	C	17: 34,155,918 (GRCm39)	F698L	probably benign	Het
Scarb1	T	C	5: 125,380,201 (GRCm39)	D124G	probably benign	Het
Sclt1	A	G	3: 41,625,917 (GRCm39)	I350T	probably benign	Het
Sec23ip	T	G	7: 128,369,364 (GRCm39)	V696G	probably damaging	Het
Serpina1e	G	T	12: 103,917,354 (GRCm39)	T105K	probably benign	Het
Sin3a	A	G	9: 57,020,828 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,218,182 (GRCm39)	T154A	probably damaging	Het
Slc9a3	T	C	13: 74,303,241 (GRCm39)	L178P	probably damaging	Het
Smarca2	A	C	19: 26,659,448 (GRCm39)	I913L	probably benign	Het
Spaca7b	T	A	8: 11,715,056 (GRCm39)	D46V	probably damaging	Het
Tcea3	G	A	4: 136,001,027 (GRCm39)		probably null	Het
Tektl1	G	C	10: 78,584,509 (GRCm39)	Q338E	probably benign	Het
Tmcc1	T	A	6: 116,020,435 (GRCm39)	H339L		Het
Trpm2	G	T	10: 77,783,731 (GRCm39)	H247Q	probably damaging	Het
Tyr	T	A	7: 87,121,724 (GRCm39)	D356V	probably damaging	Het
Vmn2r54	A	T	7: 12,349,888 (GRCm39)	C565S	probably damaging	Het
Vmn2r82	A	C	10: 79,213,636 (GRCm39)	N74T	probably benign	Het
Zcchc4	T	C	5: 52,973,260 (GRCm39)	Y375H	probably damaging	Het
Zfhx3	T	A	8: 109,675,353 (GRCm39)	D2134E	possibly damaging	Het
Zfhx4	T	A	3: 5,464,010 (GRCm39)	Y1414*	probably null	Het
Zfp282	A	T	6: 47,867,626 (GRCm39)	E267D	possibly damaging	Het
Zfp442	A	T	2: 150,251,096 (GRCm39)	C269S	possibly damaging	Het
Zp3	T	A	5: 136,014,418 (GRCm39)	S246T	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
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
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'- ATTGCTCTCCCAGTTGCACG -3'
(R):5'- TGTGGAACGAATTCTGAGCG -3'

Sequencing Primer
(F):5'- GTTGCACGAAACGCTCC -3'
(R):5'- AATTCTGAGCGCCGGGGAG -3'

Posted On

2020-06-30