Mutagenetix > Incidental Mutation

Incidental Mutation 'R8342:Nr2e1'

644966

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

Is this an essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R8342 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42561963-42583632 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42568429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 228 (L228Q)

Ref Sequence

ENSEMBL: ENSMUSP00000019938 (fasta)

Gene Model

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

AlphaFold

Q64104

Predicted Effect

probably damaging
Transcript: ENSMUST00000019938
AA Change: L228Q

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

SMART Domains

Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: L228Q

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: L16Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: L16Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	T	A	2: 23,257,005		probably null	Het
Aak1	A	G	6: 86,986,339	D917G	unknown	Het
Adad1	T	C	3: 37,079,901	S322P	probably damaging	Het
Agbl4	C	T	4: 111,119,027	L194F	probably damaging	Het
Ahr	C	T	12: 35,508,272	G250R	probably damaging	Het
AI987944	A	T	7: 41,374,886	I226N	probably benign	Het
Ankar	A	G	1: 72,652,460	V1114A	probably damaging	Het
Ankrd49	C	A	9: 14,781,527	A114S	probably damaging	Het
Arl6	C	T	16: 59,622,439	G140D	unknown	Het
Arrdc3	A	G	13: 80,883,671	S8G	probably benign	Het
Ate1	A	T	7: 130,503,765	V298E	probably benign	Het
Atp6v1b2	A	G	8: 69,101,383	I71V	probably benign	Het
Bin1	A	G	18: 32,413,113	M112V	probably benign	Het
Camk2b	C	T	11: 5,990,383	A152T	probably benign	Het
Cars2	A	C	8: 11,529,706	F251V	probably damaging	Het
Cdkl1	A	T	12: 69,754,178	F229I	probably damaging	Het
Ceacam5	A	T	7: 17,752,246	Y556F	possibly damaging	Het
Chst15	T	C	7: 132,247,886	N442S	probably benign	Het
Ckap5	T	A	2: 91,606,362	D1602E	possibly damaging	Het
Col9a3	A	T	2: 180,603,390	I131F	unknown	Het
Cyp4f15	A	T	17: 32,690,759	D110V	possibly damaging	Het
Dlec1	A	G	9: 119,139,389	I1258V	probably benign	Het
Dpyd	A	G	3: 119,314,803	T832A	possibly damaging	Het
Eno1	A	G	4: 150,245,236	Y189C	probably damaging	Het
Gm12800	A	T	4: 101,910,384	M277L	probably benign	Het
Gnat3	A	G	5: 18,003,840	T181A		Het
Kif1b	T	C	4: 149,222,348	M852V	probably damaging	Het
Klk1b26	A	T	7: 44,016,084	I139F	probably damaging	Het
Loxhd1	G	A	18: 77,405,985	V1547M	possibly damaging	Het
Lrp4	A	G	2: 91,488,445	T876A	probably damaging	Het
Malrd1	G	T	2: 15,633,224	W451L	unknown	Het
March6	A	T	15: 31,494,116	N261K	possibly damaging	Het
Mcpt2	T	C	14: 56,042,793	C50R	probably damaging	Het
Muc16	A	G	9: 18,658,685	V846A	unknown	Het
Muc5b	A	T	7: 141,860,865	D2516V	unknown	Het
Myh15	T	C	16: 49,092,757	L359P	probably benign	Het
Nemp1	G	A	10: 127,693,029	V201I	probably benign	Het
Nrg1	C	A	8: 31,822,306	V388L	probably benign	Het
Nrg3	T	A	14: 39,012,096	T278S	probably damaging	Het
Numb	T	C	12: 83,808,216	E112G	probably benign	Het
Olfr364-ps1	T	C	2: 37,146,766	S185P	probably damaging	Het
Olfr971	A	C	9: 39,840,316	N294T	probably damaging	Het
Pdlim2	C	A	14: 70,166,114	C283F	probably damaging	Het
Ppm1a	G	A	12: 72,784,135	G145R	probably damaging	Het
Pramef17	T	A	4: 143,994,239	D44V	probably benign	Het
Prune2	C	A	19: 17,125,663	Q2729K	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Scn9a	G	T	2: 66,536,282	T719K	probably benign	Het
Slc12a7	T	C	13: 73,785,162	V113A	probably benign	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc37a2	A	T	9: 37,238,214		probably null	Het
Steap1	G	A	5: 5,740,816	S44L	probably benign	Het
Sucnr1	C	T	3: 60,086,734	R228C	probably damaging	Het
Sult3a1	G	A	10: 33,866,521	G48D	probably damaging	Het
Syn3	A	T	10: 86,467,027	V88D	probably damaging	Het
Syne1	T	C	10: 5,108,622	D7297G	probably benign	Het
Tmco5	T	C	2: 116,880,253	I18T	probably damaging	Het
Trpc1	A	G	9: 95,726,548	L230P	probably damaging	Het
Ttn	T	C	2: 76,889,441	N7108S	unknown	Het
Ubr5	A	G	15: 38,024,837	V559A		Het
Ugt1a7c	T	C	1: 88,095,251	V44A	possibly damaging	Het
Vmn2r60	A	T	7: 42,141,070	S494C	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
R8916:Nr2e1	UTSW	10	42567868	missense	possibly damaging	0.94
R9145:Nr2e1	UTSW	10	42572952	missense	probably benign	0.02
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'- TAGACTCTATTGTTCCGCGGG -3'
(R):5'- CTGACTCTGAAATGCCTGTGTG -3'

Sequencing Primer
(F):5'- CCGCGGGAATTTGTTATTCTTTAC -3'
(R):5'- CACTTTAACGGAAATTTACATATGG -3'

Posted On

2020-09-02