Incidental Mutation 'IGL03092:Nr2e1'
ID 418413
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 # IGL03092
Quality Score
Chromosome 10
Chromosomal Location 42437959-42459628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42447478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 178 (Y178C)
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: Y178C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: Y178C

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

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,200,119 (GRCm39) L491P probably damaging Het
Abcc6 T A 7: 45,635,894 (GRCm39) D1051V probably damaging Het
Actmap T C 7: 26,900,561 (GRCm39) M180T probably damaging Het
Aqr T A 2: 113,989,424 (GRCm39) E133V probably benign Het
Bag6 A G 17: 35,364,603 (GRCm39) N911D probably damaging Het
Cdcp3 G T 7: 130,803,527 (GRCm39) probably null Het
Ces4a C T 8: 105,874,836 (GRCm39) probably benign Het
Clec3b A T 9: 122,980,100 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,243 (GRCm39) probably benign Het
Ctsg T A 14: 56,337,417 (GRCm39) *262L probably null Het
Cyp17a1 T A 19: 46,661,050 (GRCm39) H78L possibly damaging Het
Dcaf13 C A 15: 38,991,371 (GRCm39) probably benign Het
Dcun1d1 G T 3: 35,975,141 (GRCm39) Q52K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dock1 A G 7: 134,366,945 (GRCm39) probably benign Het
Dsel A G 1: 111,787,793 (GRCm39) L914P probably damaging Het
Fbxo31 A G 8: 122,286,757 (GRCm39) F174L probably benign Het
Gm9116 A G 3: 93,817,513 (GRCm39) noncoding transcript Het
Gspt1 C T 16: 11,056,763 (GRCm39) V211I probably benign Het
Hmgb1 A T 5: 148,987,508 (GRCm39) S14T probably benign Het
Igsf8 A G 1: 172,140,096 (GRCm39) probably benign Het
Klf13 A G 7: 63,541,417 (GRCm39) F237L probably damaging Het
Mon2 A T 10: 122,854,005 (GRCm39) I962N probably damaging Het
Nfx1 A G 4: 41,024,851 (GRCm39) D1108G probably damaging Het
Or4d10c C A 19: 12,065,230 (GRCm39) E309* probably null Het
Or52d1 A T 7: 103,755,854 (GRCm39) I123F probably damaging Het
Pde3b A T 7: 114,122,583 (GRCm39) H717L probably damaging Het
Polr1b T C 2: 128,965,049 (GRCm39) Y712H probably damaging Het
Pramel16 C A 4: 143,676,767 (GRCm39) K112N probably damaging Het
Rnf157 T A 11: 116,238,795 (GRCm39) probably null Het
Ros1 T C 10: 51,974,902 (GRCm39) E1561G probably damaging Het
Serpina6 A G 12: 103,620,154 (GRCm39) probably null Het
St18 A G 1: 6,839,118 (GRCm39) probably benign Het
Ugp2 A G 11: 21,279,722 (GRCm39) probably benign Het
Vmn1r70 T C 7: 10,368,186 (GRCm39) S225P probably benign Het
Zfp641 T C 15: 98,188,397 (GRCm39) D161G probably damaging 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
IGL02272:Nr2e1 APN 10 42,443,975 (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 2016-08-02