Incidental Mutation 'IGL01362:Nr4a3'
ID75804
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 #IGL01362
Quality Score
Status
Chromosome4
Chromosomal Location48045153-48086447 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 48051586 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 142 (Q142H)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030025]
Predicted Effect probably benign
Transcript: ENSMUST00000030025
AA Change: Q113H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: Q113H

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 noncoding transcript
Transcript: ENSMUST00000133539
Predicted Effect possibly damaging
Transcript: ENSMUST00000153369
AA Change: Q142H

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341
AA Change: Q142H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154186
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
Abcc12 T A 8: 86,534,693 D733V probably benign Het
Baz2a G A 10: 128,121,964 G1062D probably damaging Het
Bmp8a C A 4: 123,313,301 R389L probably damaging Het
Ccdc148 A G 2: 58,829,799 V488A probably benign Het
Cdh24 T C 14: 54,638,432 I227V probably benign Het
Dnah6 A G 6: 73,092,178 F2509L probably damaging Het
Dusp1 A G 17: 26,506,644 I247T probably benign Het
Erich6 G A 3: 58,622,360 probably null Het
Fam186b T C 15: 99,280,318 T376A probably benign Het
Gbp9 T C 5: 105,080,206 E570G probably damaging Het
Gm5117 G T 8: 31,737,919 noncoding transcript Het
Gpr37l1 A G 1: 135,161,478 V283A probably benign Het
Heatr5b A G 17: 78,816,338 probably benign Het
Ifit1bl2 G A 19: 34,619,484 T244I probably benign Het
Mcoln1 T C 8: 3,507,558 V188A possibly damaging Het
Mon1a T C 9: 107,902,684 L484P probably damaging Het
Mrgprg T A 7: 143,765,069 D102V probably damaging Het
Mto1 T A 9: 78,452,774 S181R probably benign Het
Myh11 C T 16: 14,277,722 V59I probably benign Het
Myo7a G A 7: 98,097,702 T163I probably damaging Het
Olfr1387 A G 11: 49,460,443 I255V probably benign Het
Olfr145 A G 9: 37,898,063 I220V probably benign Het
Olfr237-ps1 A G 6: 43,153,635 E110G probably damaging Het
Olfr295 A T 7: 86,585,439 T55S possibly damaging Het
Pkd1l2 A G 8: 117,021,856 S1859P probably damaging Het
Pkhd1l1 A G 15: 44,532,982 T1967A probably benign Het
Plppr3 C T 10: 79,865,961 R349Q probably damaging Het
Ppp2r5d A G 17: 46,685,517 probably null Het
Prl2c2 C T 13: 13,002,243 C33Y probably damaging Het
Prl3d2 T A 13: 27,122,455 L55* probably null Het
Ralgapb C T 2: 158,435,465 R250C probably damaging Het
Scamp3 C T 3: 89,179,134 P63S probably benign Het
Slc22a6 A G 19: 8,621,208 I210V possibly damaging Het
Stard13 T A 5: 151,189,952 H48L probably benign Het
Tm6sf2 G A 8: 70,077,915 R215H probably damaging Het
Twist2 T C 1: 91,801,928 L101P probably damaging Het
Uvrag A G 7: 98,888,513 S492P probably benign Het
Zan T C 5: 137,452,450 T1622A unknown Het
Zswim2 T A 2: 83,915,346 T583S probably benign Het
Other mutations in Nr4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
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 On2013-10-07