Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Nr2e1'

460796

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

044105-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R5908 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

42437959-42459628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42448765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 158 (S158G)

Ref Sequence

ENSEMBL: ENSMUSP00000019938 (fasta)

Gene Model

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

AlphaFold

Q64104

Predicted Effect

probably benign
Transcript: ENSMUST00000019938
AA Change: S158G

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

SMART Domains

Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: S158G

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

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,624,730 (GRCm39)	L198H	probably damaging	Het
Anks1	C	T	17: 28,214,993 (GRCm39)	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,503,165 (GRCm39)	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,132,297 (GRCm39)		noncoding transcript	Het
B9d2	T	A	7: 25,382,724 (GRCm39)	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,159,572 (GRCm39)	T117A	probably benign	Het
Btbd8	T	G	5: 107,655,460 (GRCm39)	D574E	probably damaging	Het
Cabin1	A	G	10: 75,557,366 (GRCm39)	S1091P	probably damaging	Het
Clip3	C	A	7: 29,996,298 (GRCm39)	D64E	probably damaging	Het
Col6a5	C	G	9: 105,740,000 (GRCm39)	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,785,136 (GRCm39)	M178L	probably benign	Het
Crtc3	T	A	7: 80,245,542 (GRCm39)	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,049,065 (GRCm39)	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,926,817 (GRCm39)	V189D	probably damaging	Het
Etl4	C	T	2: 20,748,718 (GRCm39)	A483V	probably damaging	Het
Foxo3	T	C	10: 42,072,583 (GRCm39)	I645V	probably benign	Het
Gm4841	A	G	18: 60,403,506 (GRCm39)	S196P	possibly damaging	Het
Hip1	A	G	5: 135,453,717 (GRCm39)		probably null	Het
Il36rn	G	T	2: 24,167,502 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,106,371 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,124,523 (GRCm39)	D259G	probably benign	Het
Lyst	T	A	13: 13,871,346 (GRCm39)	Y2694*	probably null	Het
Map4k2	T	C	19: 6,401,346 (GRCm39)		probably benign	Het
Marchf10	C	T	11: 105,281,065 (GRCm39)	V407I	probably benign	Het
Mast4	C	A	13: 102,874,764 (GRCm39)	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,293,366 (GRCm39)	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,039,392 (GRCm39)	F801S	probably damaging	Het
Nhsl3	A	G	4: 129,115,941 (GRCm39)	S908P	probably damaging	Het
Notch2	T	C	3: 98,031,239 (GRCm39)		probably benign	Het
Nup214	A	G	2: 31,881,353 (GRCm39)	I404V	probably benign	Het
Or13n4	T	C	7: 106,423,404 (GRCm39)	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pik3r3	A	T	4: 116,129,955 (GRCm39)	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,374,501 (GRCm39)	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,846,621 (GRCm39)	Q44*	probably null	Het
Pnma8b	C	T	7: 16,680,968 (GRCm39)	R651C	unknown	Het
Pnpt1	T	A	11: 29,080,887 (GRCm39)	S44T	probably benign	Het
Polb	A	T	8: 23,132,319 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,165,984 (GRCm39)	N85S	probably damaging	Het
Prim1	A	G	10: 127,853,893 (GRCm39)	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,758,040 (GRCm39)	Y223F	probably benign	Het
Rbak	T	G	5: 143,159,391 (GRCm39)	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,117,970 (GRCm39)	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,073,605 (GRCm39)	S818A	probably damaging	Het
Sh3rf3	C	G	10: 58,885,270 (GRCm39)	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,293,090 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,103,678 (GRCm39)	E1181G	probably benign	Het
Taf2	G	A	15: 54,935,402 (GRCm39)		probably benign	Het
Taf7l2	A	T	10: 115,949,133 (GRCm39)	I131N	probably benign	Het
Tbc1d9	A	T	8: 83,976,174 (GRCm39)	M578L	probably benign	Het
Tinagl1	G	T	4: 130,066,763 (GRCm39)	Y111*	probably null	Het
Tor2a	T	C	2: 32,651,697 (GRCm39)	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,067,304 (GRCm39)	V474A	probably benign	Het
Trrap	C	A	5: 144,723,518 (GRCm39)	A325E	probably damaging	Het
Ube4a	A	G	9: 44,859,322 (GRCm39)		probably null	Het
Use1	G	C	8: 71,822,257 (GRCm39)	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,973,563 (GRCm39)	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,156,449 (GRCm39)	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,739,374 (GRCm39)	K964E	probably benign	Het
Zfp974	T	A	7: 27,610,382 (GRCm39)	M448L	probably benign	Het
Zfyve28	A	T	5: 34,374,214 (GRCm39)	V600E	possibly 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
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
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'- AGCATCTTTGGCTCAACAGAAG -3'
(R):5'- TTGTCTCTGTAGCCGTGCAG -3'

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

Posted On

2017-02-28