Incidental Mutation 'IGL02272:Nr2e1'
ID 287210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr2e1
Ensembl Gene ENSMUSG00000019803
Gene Name nuclear receptor subfamily 2, group E, member 1
Synonyms tailless, Mtll, Tlx, Nr2e1
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # IGL02272
Quality Score
Chromosome 10
Chromosomal Location 42437959-42459628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 42443975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 249 (N249T)
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: N249T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: N249T

ZnF_C4 13 86 2.04e-36 SMART
HOLI 187 354 1.42e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105498
AA Change: N37T

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: N37T

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

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,757,021 (GRCm39) C759* probably null Het
Adgrg6 T A 10: 14,344,573 (GRCm39) M127L probably damaging Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Ccdc191 T A 16: 43,780,385 (GRCm39) V731D possibly damaging Het
Cdh3 G T 8: 107,274,468 (GRCm39) probably null Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin1 A G 12: 16,597,601 (GRCm39) V681A probably damaging Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Myo9a T A 9: 59,791,883 (GRCm39) probably benign Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Pex11g A G 8: 3,515,898 (GRCm39) V45A probably benign Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Sardh T G 2: 27,115,003 (GRCm39) D550A probably benign Het
Serpinc1 T G 1: 160,827,562 (GRCm39) I387S probably damaging Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Usp50 G A 2: 126,611,864 (GRCm39) T232I probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G probably benign Het
Other mutations in Nr2e1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16