Incidental Mutation 'IGL00898:Nr2e1'
ID 28297
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 Mtll, Tlx, tailless, Nr2e1
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # IGL00898
Quality Score
Chromosome 10
Chromosomal Location 42561963-42583632 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42568453 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 220 (D220V)
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: D220V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: D220V

ZnF_C4 13 86 2.04e-36 SMART
HOLI 187 354 1.42e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105498
AA Change: D8V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: D8V

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,733,690 (GRCm38) G956S probably damaging Het
Alpk2 G T 18: 65,350,573 (GRCm38) D121E probably benign Het
Apc A G 18: 34,317,094 (GRCm38) T2314A probably damaging Het
Arhgef11 T C 3: 87,729,503 (GRCm38) L990P probably damaging Het
Ccar1 T A 10: 62,753,234 (GRCm38) K823N unknown Het
Celsr2 C T 3: 108,413,879 (GRCm38) R539H possibly damaging Het
Clca3b A G 3: 144,844,628 (GRCm38) probably benign Het
Cpxcr1 T C X: 116,477,710 (GRCm38) L106S possibly damaging Het
Edc4 T A 8: 105,881,123 (GRCm38) L16Q probably damaging Het
Emc1 A G 4: 139,371,630 (GRCm38) E808G probably damaging Het
Epha6 A T 16: 59,775,541 (GRCm38) probably null Het
Epha7 G A 4: 28,938,693 (GRCm38) R516Q probably damaging Het
Fancm T C 12: 65,106,000 (GRCm38) S1077P probably benign Het
Gm4952 C T 19: 12,618,408 (GRCm38) T54I probably damaging Het
Hnrnpm C A 17: 33,649,902 (GRCm38) R517L probably damaging Het
Il1b T C 2: 129,367,333 (GRCm38) R126G possibly damaging Het
Kin T C 2: 10,080,706 (GRCm38) W26R probably damaging Het
Kin G A 2: 10,080,704 (GRCm38) R25H probably damaging Het
Lamb3 A T 1: 193,338,883 (GRCm38) T923S possibly damaging Het
Lrp6 C T 6: 134,479,739 (GRCm38) S854N probably damaging Het
Ltv1 A G 10: 13,182,287 (GRCm38) F258L probably damaging Het
Mcm3ap T C 10: 76,470,325 (GRCm38) S91P probably benign Het
Msra A G 14: 64,123,325 (GRCm38) I125T probably damaging Het
Nr0b1 A T X: 86,192,471 (GRCm38) Q224L probably benign Het
Nup160 C A 2: 90,693,106 (GRCm38) H351Q probably damaging Het
Olfr1446 T A 19: 12,889,918 (GRCm38) M220L probably benign Het
Pcdh12 C A 18: 38,281,457 (GRCm38) V872L probably benign Het
Pcnx2 T A 8: 125,887,585 (GRCm38) S376C probably damaging Het
Pkd2 A G 5: 104,483,135 (GRCm38) E475G probably damaging Het
Psg22 A G 7: 18,724,467 (GRCm38) Y322C probably damaging Het
Rgl2 T C 17: 33,933,418 (GRCm38) I363T possibly damaging Het
Rimklb G T 6: 122,456,631 (GRCm38) Q187K possibly damaging Het
Sectm1b A T 11: 121,056,249 (GRCm38) W17R probably damaging Het
Snu13 C A 15: 82,042,315 (GRCm38) A60S probably benign Het
Sox30 T A 11: 45,991,900 (GRCm38) F586I possibly damaging Het
Tnfsfm13 C A 11: 69,684,301 (GRCm38) V220L probably benign Het
Ttn A T 2: 76,762,773 (GRCm38) V20711E probably damaging Het
Vmn2r116 A G 17: 23,385,995 (GRCm38) N94S possibly damaging Het
Yipf2 T C 9: 21,592,524 (GRCm38) probably null Het
Zzef1 T C 11: 72,875,173 (GRCm38) S1509P probably benign Het
Other mutations in Nr2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Nr2e1 APN 10 42,567,973 (GRCm38) missense possibly damaging 0.90
IGL02272:Nr2e1 APN 10 42,567,979 (GRCm38) missense probably damaging 1.00
IGL03092:Nr2e1 APN 10 42,571,482 (GRCm38) missense probably damaging 1.00
IGL03405:Nr2e1 APN 10 42,568,381 (GRCm38) missense probably damaging 1.00
Dubious UTSW 10 42,571,487 (GRCm38) nonsense probably null
BB010:Nr2e1 UTSW 10 42,563,383 (GRCm38) missense probably damaging 1.00
BB020:Nr2e1 UTSW 10 42,563,383 (GRCm38) missense probably damaging 1.00
R1581:Nr2e1 UTSW 10 42,567,968 (GRCm38) missense probably benign 0.12
R1807:Nr2e1 UTSW 10 42,582,909 (GRCm38) splice site probably null
R1879:Nr2e1 UTSW 10 42,568,371 (GRCm38) critical splice donor site probably null
R1944:Nr2e1 UTSW 10 42,572,778 (GRCm38) missense probably benign
R2426:Nr2e1 UTSW 10 42,563,485 (GRCm38) missense probably damaging 1.00
R2842:Nr2e1 UTSW 10 42,568,445 (GRCm38) missense probably damaging 0.99
R4515:Nr2e1 UTSW 10 42,578,191 (GRCm38) missense probably benign
R5305:Nr2e1 UTSW 10 42,571,487 (GRCm38) nonsense probably null
R5316:Nr2e1 UTSW 10 42,571,491 (GRCm38) missense probably benign 0.10
R5325:Nr2e1 UTSW 10 42,572,784 (GRCm38) missense probably damaging 1.00
R5908:Nr2e1 UTSW 10 42,572,769 (GRCm38) missense probably benign
R7040:Nr2e1 UTSW 10 42,568,378 (GRCm38) missense probably damaging 0.99
R7593:Nr2e1 UTSW 10 42,563,479 (GRCm38) missense probably damaging 1.00
R7765:Nr2e1 UTSW 10 42,574,437 (GRCm38) missense probably benign 0.32
R7933:Nr2e1 UTSW 10 42,563,383 (GRCm38) missense probably damaging 1.00
R8158:Nr2e1 UTSW 10 42,582,885 (GRCm38) missense probably benign 0.00
R8342:Nr2e1 UTSW 10 42,568,429 (GRCm38) missense probably damaging 1.00
R8916:Nr2e1 UTSW 10 42,567,868 (GRCm38) missense possibly damaging 0.94
R9145:Nr2e1 UTSW 10 42,572,952 (GRCm38) missense probably benign 0.02
R9189:Nr2e1 UTSW 10 42,578,272 (GRCm38) missense probably damaging 0.99
R9381:Nr2e1 UTSW 10 42,563,472 (GRCm38) missense probably damaging 1.00
R9499:Nr2e1 UTSW 10 42,571,491 (GRCm38) missense probably benign 0.10
R9552:Nr2e1 UTSW 10 42,571,491 (GRCm38) missense probably benign 0.10
Z1177:Nr2e1 UTSW 10 42,568,427 (GRCm38) missense probably damaging 1.00
Posted On 2013-04-17