Incidental Mutation 'IGL03405:Nr2e1'
ID421554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr2e1
Ensembl Gene ENSMUSG00000019803
Gene Namenuclear receptor subfamily 2, group E, member 1
SynonymsMtll, Tlx, tailless, Nr2e1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.858) question?
Stock #IGL03405
Quality Score
Status
Chromosome10
Chromosomal Location42561963-42583632 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 42568381 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 244 (A244V)
Ref Sequence ENSEMBL: ENSMUSP00000019938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019938] [ENSMUST00000105498]
Predicted Effect probably damaging
Transcript: ENSMUST00000019938
AA Change: A244V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: A244V

DomainStartEndE-ValueType
ZnF_C4 13 86 2.04e-36 SMART
HOLI 187 354 1.42e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105498
AA Change: A32V

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: A32V

DomainStartEndE-ValueType
HOLI 3 142 2.56e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126848
SMART Domains Protein: ENSMUSP00000116439
Gene: ENSMUSG00000019803

DomainStartEndE-ValueType
ZnF_C4 9 82 2.04e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143891
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,016,403 V101A probably benign Het
Btbd3 G A 2: 138,279,761 M121I probably damaging Het
Caprin1 G A 2: 103,779,505 R143C probably damaging Het
Cfap206 A G 4: 34,716,445 I340T possibly damaging Het
Chmp6 A G 11: 119,915,447 Y33C probably damaging Het
Clstn3 T C 6: 124,438,368 D679G possibly damaging Het
Col24a1 G A 3: 145,315,157 A430T possibly damaging Het
Commd6 A T 14: 101,637,072 V28E probably damaging Het
Eno2 T A 6: 124,763,885 Y236F probably benign Het
Erbb4 T C 1: 68,330,238 S415G probably benign Het
Evpl A G 11: 116,227,927 I648T possibly damaging Het
Fat1 T A 8: 45,025,241 D2441E probably damaging Het
Fat4 T C 3: 38,958,450 V2298A probably benign Het
Fbxl8 C A 8: 105,268,120 T88K probably benign Het
Ganc A G 2: 120,433,766 H400R probably damaging Het
Helb G A 10: 120,089,796 T892I probably damaging Het
Jaml A T 9: 45,093,809 K124N possibly damaging Het
Llgl2 G T 11: 115,850,842 E599D probably benign Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Obscn T C 11: 59,000,124 K7194R unknown Het
Olfr1031 A G 2: 85,991,886 Q23R possibly damaging Het
Olfr1394 A G 11: 49,160,886 probably null Het
Rasgrf2 A T 13: 91,896,051 I961N probably damaging Het
Retreg3 T C 11: 101,100,969 D46G probably damaging Het
Rtp2 A C 16: 23,927,576 S122A probably benign Het
Sbf2 T A 7: 110,462,932 D146V probably damaging Het
Slc39a13 A G 2: 91,063,103 V324A probably damaging Het
Sptan1 A G 2: 30,025,581 T2013A probably damaging Het
Tnni3k A G 3: 154,792,767 probably benign Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Trpm2 G A 10: 77,966,072 probably benign Het
Ttn A G 2: 76,708,932 L34570P possibly damaging Het
Vmn2r100 T C 17: 19,531,924 V806A probably damaging Het
Wdr70 A G 15: 8,035,871 S237P possibly damaging Het
Wnk1 T C 6: 119,953,895 N896S probably benign Het
Zan T A 5: 137,424,597 D2718V unknown Het
Other mutations in Nr2e1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Z1177:Nr2e1 UTSW 10 42568427 missense probably damaging 1.00
Posted On2016-08-02