Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Nr2e1'

694579

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42561963-42583632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 42572952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 97 (S97A)

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: S97A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: S97A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly 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
R1944:Nr2e1	UTSW	10	42572778	missense	probably benign
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
R8916:Nr2e1	UTSW	10	42567868	missense	possibly damaging	0.94
R9189:Nr2e1	UTSW	10	42578272	missense	probably damaging	0.99
R9381:Nr2e1	UTSW	10	42563472	missense	probably damaging	1.00
R9499:Nr2e1	UTSW	10	42571491	missense	probably benign	0.10
R9552:Nr2e1	UTSW	10	42571491	missense	probably benign	0.10
Z1177:Nr2e1	UTSW	10	42568427	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCCACTAACCTTGGGCG -3'
(R):5'- TGGTTTCCCTGAGATGCCTG -3'

Sequencing Primer
(F):5'- ACGAGAGTCTGCCGTTCAG -3'
(R):5'- CATGCCGGGAAAACGTGC -3'

Posted On

2022-01-20