Incidental Mutation 'IGL00898:Nr2e1'
ID28297
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: 0.834) question?
Stock #IGL00898
Quality Score
Status
Chromosome10
Chromosomal Location42561963-42583632 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 42568453 bp
ZygosityHeterozygous
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]
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

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: D8V

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

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,733,690 G956S probably damaging Het
Alpk2 G T 18: 65,350,573 D121E probably benign Het
Apc A G 18: 34,317,094 T2314A probably damaging Het
Arhgef11 T C 3: 87,729,503 L990P probably damaging Het
Ccar1 T A 10: 62,753,234 K823N unknown Het
Celsr2 C T 3: 108,413,879 R539H possibly damaging Het
Clca3b A G 3: 144,844,628 probably benign Het
Cpxcr1 T C X: 116,477,710 L106S possibly damaging Het
Edc4 T A 8: 105,881,123 L16Q probably damaging Het
Emc1 A G 4: 139,371,630 E808G probably damaging Het
Epha6 A T 16: 59,775,541 probably null Het
Epha7 G A 4: 28,938,693 R516Q probably damaging Het
Fancm T C 12: 65,106,000 S1077P probably benign Het
Gm4952 C T 19: 12,618,408 T54I probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Il1b T C 2: 129,367,333 R126G possibly damaging Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Lamb3 A T 1: 193,338,883 T923S possibly damaging Het
Lrp6 C T 6: 134,479,739 S854N probably damaging Het
Ltv1 A G 10: 13,182,287 F258L probably damaging Het
Mcm3ap T C 10: 76,470,325 S91P probably benign Het
Msra A G 14: 64,123,325 I125T probably damaging Het
Nr0b1 A T X: 86,192,471 Q224L probably benign Het
Nup160 C A 2: 90,693,106 H351Q probably damaging Het
Olfr1446 T A 19: 12,889,918 M220L probably benign Het
Pcdh12 C A 18: 38,281,457 V872L probably benign Het
Pcnx2 T A 8: 125,887,585 S376C probably damaging Het
Pkd2 A G 5: 104,483,135 E475G probably damaging Het
Psg22 A G 7: 18,724,467 Y322C probably damaging Het
Rgl2 T C 17: 33,933,418 I363T possibly damaging Het
Rimklb G T 6: 122,456,631 Q187K possibly damaging Het
Sectm1b A T 11: 121,056,249 W17R probably damaging Het
Snu13 C A 15: 82,042,315 A60S probably benign Het
Sox30 T A 11: 45,991,900 F586I possibly damaging Het
Tnfsfm13 C A 11: 69,684,301 V220L probably benign Het
Ttn A T 2: 76,762,773 V20711E probably damaging Het
Vmn2r116 A G 17: 23,385,995 N94S possibly damaging Het
Yipf2 T C 9: 21,592,524 probably null Het
Zzef1 T C 11: 72,875,173 S1509P probably benign Het
Other mutations in Nr2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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 not run
BB020:Nr2e1 UTSW 10 42563383 missense not run
R1581:Nr2e1 UTSW 10 42567968 missense probably benign 0.12
R1807:Nr2e1 UTSW 10 42582909 unclassified 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
R8158:Nr2e1 UTSW 10 42582885 missense probably benign 0.00
Z1177:Nr2e1 UTSW 10 42568427 missense probably damaging 1.00
Posted On2013-04-17