Incidental Mutation 'IGL01407:Nr4a3'
ID79855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr4a3
Ensembl Gene ENSMUSG00000028341
Gene Namenuclear receptor subfamily 4, group A, member 3
SynonymsNor1, TEC, MINOR, NOR-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01407
Quality Score
Status
Chromosome4
Chromosomal Location48045153-48086447 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48083201 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 578 (E578G)
Ref Sequence ENSEMBL: ENSMUSP00000030025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030025]
Predicted Effect probably benign
Transcript: ENSMUST00000030025
AA Change: E578G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: E578G

DomainStartEndE-ValueType
Blast:HOLI 1 43 4e-18 BLAST
low complexity region 99 115 N/A INTRINSIC
low complexity region 139 151 N/A INTRINSIC
low complexity region 196 210 N/A INTRINSIC
low complexity region 218 239 N/A INTRINSIC
low complexity region 269 288 N/A INTRINSIC
ZnF_C4 290 361 4.57e-39 SMART
low complexity region 376 396 N/A INTRINSIC
HOLI 440 595 2.46e-21 SMART
Predicted Effect unknown
Transcript: ENSMUST00000153369
AA Change: E607G
SMART Domains Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341
AA Change: E607G

DomainStartEndE-ValueType
Blast:HOLI 30 73 8e-19 BLAST
low complexity region 129 145 N/A INTRINSIC
low complexity region 169 181 N/A INTRINSIC
low complexity region 226 240 N/A INTRINSIC
low complexity region 248 269 N/A INTRINSIC
low complexity region 299 318 N/A INTRINSIC
ZnF_C4 320 391 4.57e-39 SMART
low complexity region 406 426 N/A INTRINSIC
HOLI 470 625 2.46e-21 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the NR4A subfamily of nuclear hormone receptors that bind to DNA and modulate gene expression. The encoded protein has been implicated in T and B lymphocyte apoptosis, and immune cell proliferation. Mice lacking the encoded protein exhibit partial bidirectional circling behavior and inner ear dysfunction. Disruption of this gene in mice also results in defective hippocampal axonal growth and postnatal neuronal cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit defects in the semicircular canals of the inner ear and bidirectional circling behavior. Mice homozygous for another null allele display embryonic lethality with impaired cell migration during gastrulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,245,944 D1140V probably damaging Het
Ak1 G T 2: 32,633,495 probably benign Het
Ano1 A T 7: 144,637,111 L411H probably benign Het
Atad2 A T 15: 58,104,525 N569K probably benign Het
Bst2 C A 8: 71,537,186 R81L probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Chrna5 C T 9: 55,004,399 T57M possibly damaging Het
Cp A T 3: 19,977,205 D602V possibly damaging Het
Drd2 T C 9: 49,400,815 I156T probably damaging Het
Elp4 G A 2: 105,792,308 R349W probably damaging Het
Eml6 G A 11: 29,755,021 R1508* probably null Het
Etl4 T C 2: 20,743,856 L335S probably damaging Het
Fat3 A T 9: 16,378,023 I68K probably benign Het
Fyco1 G T 9: 123,828,879 A744D probably damaging Het
Gm22165 G T 3: 64,105,465 probably benign Het
Gse1 T C 8: 120,553,587 M1T probably null Het
Hs3st5 A T 10: 36,833,408 H313L probably damaging Het
Hsd17b3 T C 13: 64,062,905 Y212C probably damaging Het
Hyal5 G T 6: 24,876,407 S93I probably benign Het
Itgb1 T C 8: 128,722,834 V578A probably benign Het
Klf12 A T 14: 100,109,858 N12K possibly damaging Het
Krt40 C T 11: 99,541,219 C222Y probably damaging Het
Lrrn2 T C 1: 132,937,227 L10P probably damaging Het
Lrsam1 T C 2: 32,947,903 Y213C probably damaging Het
Mitf C A 6: 98,017,931 T277K possibly damaging Het
Ncan C T 8: 70,101,957 R1070H probably benign Het
Patj A G 4: 98,413,050 T191A possibly damaging Het
Pign A G 1: 105,589,302 V533A probably benign Het
Smad5 G A 13: 56,735,817 V339I probably benign Het
Spem2 T A 11: 69,817,239 Y300F possibly damaging Het
Trank1 T G 9: 111,364,722 S605A probably damaging Het
Treml4 T A 17: 48,264,849 D93E possibly damaging Het
Tsc22d2 T A 3: 58,416,503 V272E probably damaging Het
Vmn2r19 T A 6: 123,329,867 F445I possibly damaging Het
Zfp712 T A 13: 67,042,166 Q99L possibly damaging Het
Zfp719 A T 7: 43,584,187 K10I probably benign Het
Other mutations in Nr4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Nr4a3 APN 4 48051586 missense possibly damaging 0.48
IGL01454:Nr4a3 APN 4 48067803 missense probably damaging 1.00
IGL01472:Nr4a3 APN 4 48071133 missense probably damaging 1.00
IGL02622:Nr4a3 APN 4 48051649 missense probably benign 0.06
IGL03401:Nr4a3 APN 4 48070987 splice site probably null
bulbous UTSW 4 48083255 missense probably damaging 0.98
cronus UTSW 4 48056539 missense probably damaging 1.00
I1329:Nr4a3 UTSW 4 48051585 missense probably benign 0.12
R0486:Nr4a3 UTSW 4 48056525 splice site probably benign
R0610:Nr4a3 UTSW 4 48051903 missense probably benign 0.10
R1170:Nr4a3 UTSW 4 48051564 missense probably damaging 0.98
R1170:Nr4a3 UTSW 4 48083324 missense probably benign 0.01
R1440:Nr4a3 UTSW 4 48051777 missense probably benign
R1977:Nr4a3 UTSW 4 48056539 missense probably damaging 1.00
R2016:Nr4a3 UTSW 4 48083252 missense probably damaging 1.00
R2046:Nr4a3 UTSW 4 48067807 missense possibly damaging 0.82
R2055:Nr4a3 UTSW 4 48067771 missense possibly damaging 0.86
R3707:Nr4a3 UTSW 4 48056699 missense probably damaging 0.99
R3708:Nr4a3 UTSW 4 48056699 missense probably damaging 0.99
R4246:Nr4a3 UTSW 4 48083125 missense possibly damaging 0.86
R4657:Nr4a3 UTSW 4 48051522 missense probably damaging 1.00
R4870:Nr4a3 UTSW 4 48051651 missense possibly damaging 0.73
R5434:Nr4a3 UTSW 4 48067861 missense probably damaging 1.00
R5539:Nr4a3 UTSW 4 48056525 splice site probably null
R5663:Nr4a3 UTSW 4 48055931 missense probably damaging 1.00
R6513:Nr4a3 UTSW 4 48083255 missense probably damaging 0.98
R6664:Nr4a3 UTSW 4 48056006 missense probably damaging 1.00
R6921:Nr4a3 UTSW 4 48051486 missense probably benign 0.04
R6940:Nr4a3 UTSW 4 48051486 missense probably benign 0.04
R7076:Nr4a3 UTSW 4 48055957 missense probably damaging 1.00
R7322:Nr4a3 UTSW 4 48083238 missense probably benign 0.00
R7347:Nr4a3 UTSW 4 48051290 missense possibly damaging 0.94
R7348:Nr4a3 UTSW 4 48051290 missense possibly damaging 0.94
R7349:Nr4a3 UTSW 4 48051290 missense possibly damaging 0.94
R7361:Nr4a3 UTSW 4 48083203 missense probably benign 0.00
R7365:Nr4a3 UTSW 4 48051290 missense possibly damaging 0.94
R7366:Nr4a3 UTSW 4 48051290 missense possibly damaging 0.94
R7418:Nr4a3 UTSW 4 48051476 missense probably damaging 1.00
Posted On2013-11-05