Incidental Mutation 'IGL03401:Nr4a3'
ID421442
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 #IGL03401
Quality Score
Status
Chromosome4
Chromosomal Location48045153-48086447 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 48070987 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000030025]
Predicted Effect probably null
Transcript: ENSMUST00000030025
SMART Domains Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341

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 probably null
Transcript: ENSMUST00000153369
SMART Domains Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,662,266 R581* probably null Het
6430573F11Rik A C 8: 36,505,669 D91A probably damaging Het
Actn1 A T 12: 80,168,967 L799* probably null Het
Adam12 A T 7: 133,916,463 N327K probably damaging Het
Adamts9 A G 6: 92,786,868 V1314A probably damaging Het
Agbl4 G T 4: 111,119,019 R191L probably damaging Het
Ano6 T C 15: 95,949,905 I611T probably damaging Het
Arhgef26 T A 3: 62,423,532 S556T possibly damaging Het
AW209491 A G 13: 14,637,456 D298G probably benign Het
Cc2d1a A G 8: 84,134,629 M763T probably benign Het
Cep290 A G 10: 100,500,265 D388G probably benign Het
Cept1 T C 3: 106,533,390 E151G probably damaging Het
Chat T C 14: 32,452,569 K139E probably damaging Het
Edc4 T A 8: 105,887,514 Y7* probably null Het
Enpep T A 3: 129,312,620 Q319L probably benign Het
F13a1 A G 13: 36,898,080 I550T probably benign Het
Fbxw19 A G 9: 109,494,970 probably null Het
Frem3 T G 8: 80,614,541 D1154E probably damaging Het
Frmpd1 G T 4: 45,284,383 C1068F probably benign Het
Fsip2 C A 2: 82,990,470 P5516T probably benign Het
Hyou1 G A 9: 44,384,909 A429T probably damaging Het
Lrp1b C T 2: 41,110,778 E2145K probably benign Het
Map1b A T 13: 99,427,268 V2397D unknown Het
Mcm3ap T C 10: 76,484,649 probably benign Het
Mgst2 T G 3: 51,664,512 S20R possibly damaging Het
Nup93 T A 8: 94,309,711 probably null Het
Olfr397 T C 11: 73,965,562 probably benign Het
Papola A T 12: 105,829,122 T611S probably benign Het
Pik3ca C A 3: 32,437,814 probably null Het
Pklr T C 3: 89,142,729 V337A probably benign Het
Prl7b1 A G 13: 27,601,981 Y235H probably benign Het
Proc T C 18: 32,123,273 Y447C possibly damaging Het
Pum1 T C 4: 130,743,681 probably benign Het
Rimklb A T 6: 122,464,118 I32N probably damaging Het
Rrm1 T A 7: 102,465,744 D644E possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Shbg A G 11: 69,615,099 S361P probably damaging Het
Zfp647 T A 15: 76,911,368 H364L probably damaging Het
Zfp715 A T 7: 43,299,736 S267T probably benign Het
Other mutations in Nr4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Nr4a3 APN 4 48051586 missense possibly damaging 0.48
IGL01407:Nr4a3 APN 4 48083201 missense probably benign 0.00
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
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
R7659:Nr4a3 UTSW 4 48051269 missense probably damaging 1.00
R7895:Nr4a3 UTSW 4 48051390 missense probably benign
R7986:Nr4a3 UTSW 4 48055954 missense probably damaging 1.00
R8022:Nr4a3 UTSW 4 48051510 missense probably damaging 1.00
R8226:Nr4a3 UTSW 4 48056588 missense probably damaging 1.00
R8328:Nr4a3 UTSW 4 48051323 missense probably damaging 1.00
R8349:Nr4a3 UTSW 4 48052170 missense probably benign 0.40
R8403:Nr4a3 UTSW 4 48051348 missense probably damaging 1.00
R8449:Nr4a3 UTSW 4 48052170 missense probably benign 0.40
Posted On2016-08-02