Incidental Mutation 'IGL01936:Nr2e1'
ID 180686
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 # IGL01936
Quality Score
Status
Chromosome 10
Chromosomal Location 42561963-42583632 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42567973 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 251 (D251V)
Ref Sequence ENSEMBL: ENSMUSP00000019938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019938] [ENSMUST00000105498]
AlphaFold Q64104
Predicted Effect possibly damaging
Transcript: ENSMUST00000019938
AA Change: D251V

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: D251V

DomainStartEndE-ValueType
ZnF_C4 13 86 2.04e-36 SMART
HOLI 187 354 1.42e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105498
AA Change: D39V

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101137
Gene: ENSMUSG00000019803
AA Change: D39V

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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,861,423 (GRCm38) H127L probably benign Het
Adamtsl3 T C 7: 82,595,371 (GRCm38) V419A possibly damaging Het
Arhgap31 T A 16: 38,602,925 (GRCm38) L926F probably damaging Het
Asgr2 A T 11: 70,098,051 (GRCm38) probably null Het
C3ar1 T A 6: 122,851,235 (GRCm38) T8S probably benign Het
Caskin2 T C 11: 115,804,717 (GRCm38) I273V probably damaging Het
Ccnl2 T A 4: 155,820,399 (GRCm38) C242S probably damaging Het
Cdkn2a A T 4: 89,294,332 (GRCm38) probably null Het
Cfap45 T G 1: 172,534,049 (GRCm38) M231R probably damaging Het
Clcn7 A C 17: 25,155,376 (GRCm38) N464H probably benign Het
Col20a1 T A 2: 181,009,368 (GRCm38) probably benign Het
Col7a1 T A 9: 108,967,999 (GRCm38) probably benign Het
Cops7a T C 6: 124,962,416 (GRCm38) D90G probably benign Het
Ctcf T C 8: 105,670,232 (GRCm38) V363A probably benign Het
Cyp2j12 A G 4: 96,133,069 (GRCm38) V100A probably benign Het
Dcaf1 T A 9: 106,859,601 (GRCm38) F1085Y possibly damaging Het
Drc7 T A 8: 95,074,132 (GRCm38) F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,718,249 (GRCm38) E1009* probably null Het
Epg5 C A 18: 77,985,101 (GRCm38) R1286S probably damaging Het
Etv1 T C 12: 38,835,061 (GRCm38) probably benign Het
Exosc7 T C 9: 123,135,891 (GRCm38) probably benign Het
Fam227a T C 15: 79,612,546 (GRCm38) D610G possibly damaging Het
Fat4 T A 3: 38,979,774 (GRCm38) M2525K probably benign Het
Gimap5 G T 6: 48,753,065 (GRCm38) A190S probably damaging Het
Glcci1 T A 6: 8,579,596 (GRCm38) S79T probably damaging Het
Gm10093 T C 17: 78,492,129 (GRCm38) V183A probably damaging Het
Gpnmb C T 6: 49,047,450 (GRCm38) T233I probably null Het
Hyls1 T C 9: 35,562,067 (GRCm38) I18V probably benign Het
Ighv1-63 C T 12: 115,495,654 (GRCm38) E108K probably damaging Het
Ighv5-12 C A 12: 113,702,307 (GRCm38) R57L probably damaging Het
Igkv5-37 T C 6: 69,963,339 (GRCm38) Y107C probably damaging Het
Il20ra T A 10: 19,755,843 (GRCm38) V264D probably damaging Het
Jph1 A T 1: 17,097,384 (GRCm38) V74E probably damaging Het
Kcnab1 C T 3: 65,358,274 (GRCm38) L280F probably damaging Het
Kcnk1 T C 8: 126,025,087 (GRCm38) F144S probably damaging Het
Kcnq1 G A 7: 143,184,504 (GRCm38) E294K possibly damaging Het
Kdm4b T A 17: 56,397,355 (GRCm38) V813E probably damaging Het
Kntc1 T A 5: 123,811,376 (GRCm38) F1937I probably damaging Het
Ldb2 G A 5: 44,480,244 (GRCm38) R241W probably damaging Het
Lgr5 T C 10: 115,452,414 (GRCm38) N703S probably damaging Het
Map4k1 A T 7: 28,988,607 (GRCm38) M227L possibly damaging Het
Mbnl1 T A 3: 60,613,519 (GRCm38) M268K possibly damaging Het
Mcm2 C A 6: 88,891,726 (GRCm38) G350C probably damaging Het
Myh2 A T 11: 67,191,773 (GRCm38) T1390S possibly damaging Het
Npat T A 9: 53,558,226 (GRCm38) probably benign Het
Olfr1425 C T 19: 12,074,057 (GRCm38) V192I probably benign Het
Olfr1461 C A 19: 13,165,403 (GRCm38) P130T probably damaging Het
Olfr54 A G 11: 51,027,335 (GRCm38) N111S probably benign Het
Plekha5 T A 6: 140,524,895 (GRCm38) H87Q probably damaging Het
Polr3a A G 14: 24,479,188 (GRCm38) V368A probably damaging Het
Psmb8 T A 17: 34,200,194 (GRCm38) L154Q probably damaging Het
Rab40c A C 17: 25,884,670 (GRCm38) C140G probably damaging Het
Ranbp17 G A 11: 33,487,689 (GRCm38) T183I probably benign Het
Ruvbl2 T C 7: 45,428,698 (GRCm38) E117G probably damaging Het
Serpinb3b T A 1: 107,154,638 (GRCm38) M299L probably benign Het
Smpdl3a A G 10: 57,802,434 (GRCm38) H111R probably damaging Het
Sspo C A 6: 48,475,887 (GRCm38) P2843H probably damaging Het
Stk39 T C 2: 68,314,564 (GRCm38) T389A probably benign Het
Synrg T A 11: 84,019,705 (GRCm38) F1000Y probably benign Het
Thbs2 C T 17: 14,687,814 (GRCm38) S229N probably benign Het
Thsd1 G A 8: 22,252,231 (GRCm38) C305Y probably damaging Het
Ticrr C A 7: 79,694,549 (GRCm38) D1387E probably benign Het
Tmem145 G T 7: 25,311,391 (GRCm38) A383S probably damaging Het
Tmprss4 A G 9: 45,179,420 (GRCm38) V187A probably damaging Het
Unc13c T A 9: 73,693,242 (GRCm38) M1407L probably benign Het
Vps39 C T 2: 120,323,128 (GRCm38) G655D probably benign Het
Wwtr1 T C 3: 57,574,820 (GRCm38) probably benign Het
Xrn1 T C 9: 96,048,344 (GRCm38) S1535P probably damaging Het
Other mutations in Nr2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Nr2e1 APN 10 42,568,453 (GRCm38) missense probably damaging 1.00
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 2014-05-07