Incidental Mutation 'R2016:Nr4a3'
ID 222988
Institutional Source Beutler Lab
Gene Symbol Nr4a3
Ensembl Gene ENSMUSG00000028341
Gene Name nuclear receptor subfamily 4, group A, member 3
Synonyms MINOR, Nor1, NOR-1, TEC
MMRRC Submission 040025-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2016 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 48045153-48086447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48083252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 595 (C595Y)
Ref Sequence ENSEMBL: ENSMUSP00000030025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030025]
AlphaFold Q9QZB6
Predicted Effect probably damaging
Transcript: ENSMUST00000030025
AA Change: C595Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: C595Y

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: C624Y
SMART Domains Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341
AA Change: C624Y

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abca8a A G 11: 109,961,213 (GRCm39) F570L probably damaging Het
Adck1 T A 12: 88,427,862 (GRCm39) I493N probably damaging Het
Adra2c T C 5: 35,437,656 (GRCm39) C143R probably damaging Het
Afg2a T C 3: 37,632,911 (GRCm39) V839A possibly damaging Het
Akap13 C T 7: 75,354,279 (GRCm39) T1800M probably damaging Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcam G A 7: 19,494,274 (GRCm39) T374M probably benign Het
Blm T C 7: 80,155,674 (GRCm39) D335G probably benign Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Col4a2 T C 8: 11,495,086 (GRCm39) F1515L probably benign Het
Csf2ra T G 19: 61,215,331 (GRCm39) M95L probably benign Het
Cyp2c70 T A 19: 40,152,856 (GRCm39) T300S possibly damaging Het
Cyp4f15 A T 17: 32,921,133 (GRCm39) H440L probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Ddr2 T C 1: 169,812,537 (GRCm39) M652V probably damaging Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Efl1 A C 7: 82,402,917 (GRCm39) D673A probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Erap1 T C 13: 74,812,270 (GRCm39) W362R probably damaging Het
Fam234a A G 17: 26,437,290 (GRCm39) F91L probably benign Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Garin5b A T 7: 4,762,397 (GRCm39) I244N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnl3 A G 14: 30,738,326 (GRCm39) probably null Het
Has1 A T 17: 18,068,532 (GRCm39) I274N probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Itsn1 T C 16: 91,702,389 (GRCm39) probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kif13a T C 13: 46,964,275 (GRCm39) D475G probably benign Het
Klhl20 A T 1: 160,930,608 (GRCm39) M298K probably damaging Het
Kynu G T 2: 43,494,289 (GRCm39) G241* probably null Het
Lrif1 G T 3: 106,639,522 (GRCm39) L202F possibly damaging Het
Lrp5 T C 19: 3,660,056 (GRCm39) K1003E probably benign Het
Mamdc2 T C 19: 23,311,393 (GRCm39) D487G probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Mettl25 T A 10: 105,633,167 (GRCm39) E425D probably benign Het
Midn G T 10: 79,985,949 (GRCm39) R13L possibly damaging Het
Mtmr9 T C 14: 63,777,713 (GRCm39) Y136C possibly damaging Het
Mylk G A 16: 34,817,187 (GRCm39) V61M probably damaging Het
Nalcn T C 14: 123,831,993 (GRCm39) probably null Het
Nle1 G T 11: 82,796,373 (GRCm39) P166Q probably damaging Het
Or10d4 A G 9: 39,580,851 (GRCm39) Y166C probably damaging Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or4l15 A G 14: 50,197,959 (GRCm39) I190T probably benign Het
Or5w1b C T 2: 87,476,396 (GRCm39) V24M probably benign Het
Or8b1 A T 9: 38,399,309 (GRCm39) probably null Het
Pds5a T A 5: 65,805,350 (GRCm39) probably null Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Plcl2 G A 17: 50,913,722 (GRCm39) V244M probably damaging Het
Plk1 A G 7: 121,761,663 (GRCm39) K257R probably damaging Het
Prkcg A T 7: 3,372,066 (GRCm39) T460S probably damaging Het
Prl7d1 G A 13: 27,894,156 (GRCm39) H138Y probably damaging Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprj C T 2: 90,294,958 (GRCm39) V417M probably damaging Het
Pwwp2b A T 7: 138,836,067 (GRCm39) I503F possibly damaging Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Sall1 A G 8: 89,755,037 (GRCm39) V1314A probably benign Het
Sema6c A G 3: 95,078,545 (GRCm39) I549V probably benign Het
Slc17a1 A G 13: 24,062,522 (GRCm39) S230G probably benign Het
Slc5a4a T G 10: 75,989,414 (GRCm39) F106V probably benign Het
Stat6 T C 10: 127,486,665 (GRCm39) L147P probably damaging Het
Taar7d T A 10: 23,903,642 (GRCm39) S175T probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tmem132b A G 5: 125,700,080 (GRCm39) Q206R probably benign Het
Tmem229a T C 6: 24,955,061 (GRCm39) D231G probably benign Het
Trim66 A G 7: 109,071,439 (GRCm39) probably null Het
Ttll9 A T 2: 152,844,214 (GRCm39) E374V probably damaging Het
Vmn2r69 A T 7: 85,056,493 (GRCm39) D548E probably damaging Het
Zcchc2 T A 1: 105,931,851 (GRCm39) probably null Het
Zfp282 T A 6: 47,874,721 (GRCm39) probably null Het
Zfp352 A G 4: 90,113,408 (GRCm39) E516G probably benign Het
Other mutations in Nr4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Nr4a3 APN 4 48,051,586 (GRCm39) missense possibly damaging 0.48
IGL01407:Nr4a3 APN 4 48,083,201 (GRCm39) missense probably benign 0.00
IGL01454:Nr4a3 APN 4 48,067,803 (GRCm39) missense probably damaging 1.00
IGL01472:Nr4a3 APN 4 48,071,133 (GRCm39) missense probably damaging 1.00
IGL02622:Nr4a3 APN 4 48,051,649 (GRCm39) missense probably benign 0.06
IGL03401:Nr4a3 APN 4 48,070,987 (GRCm39) splice site probably null
bulbous UTSW 4 48,083,255 (GRCm39) missense probably damaging 0.98
cronus UTSW 4 48,056,539 (GRCm39) missense probably damaging 1.00
I1329:Nr4a3 UTSW 4 48,051,585 (GRCm39) missense probably benign 0.12
R0486:Nr4a3 UTSW 4 48,056,525 (GRCm39) splice site probably benign
R0610:Nr4a3 UTSW 4 48,051,903 (GRCm39) missense probably benign 0.10
R1170:Nr4a3 UTSW 4 48,083,324 (GRCm39) missense probably benign 0.01
R1170:Nr4a3 UTSW 4 48,051,564 (GRCm39) missense probably damaging 0.98
R1440:Nr4a3 UTSW 4 48,051,777 (GRCm39) missense probably benign
R1977:Nr4a3 UTSW 4 48,056,539 (GRCm39) missense probably damaging 1.00
R2046:Nr4a3 UTSW 4 48,067,807 (GRCm39) missense possibly damaging 0.82
R2055:Nr4a3 UTSW 4 48,067,771 (GRCm39) missense possibly damaging 0.86
R3707:Nr4a3 UTSW 4 48,056,699 (GRCm39) missense probably damaging 0.99
R3708:Nr4a3 UTSW 4 48,056,699 (GRCm39) missense probably damaging 0.99
R4246:Nr4a3 UTSW 4 48,083,125 (GRCm39) missense possibly damaging 0.86
R4657:Nr4a3 UTSW 4 48,051,522 (GRCm39) missense probably damaging 1.00
R4870:Nr4a3 UTSW 4 48,051,651 (GRCm39) missense possibly damaging 0.73
R5434:Nr4a3 UTSW 4 48,067,861 (GRCm39) missense probably damaging 1.00
R5539:Nr4a3 UTSW 4 48,056,525 (GRCm39) splice site probably null
R5663:Nr4a3 UTSW 4 48,055,931 (GRCm39) missense probably damaging 1.00
R6513:Nr4a3 UTSW 4 48,083,255 (GRCm39) missense probably damaging 0.98
R6664:Nr4a3 UTSW 4 48,056,006 (GRCm39) missense probably damaging 1.00
R6921:Nr4a3 UTSW 4 48,051,486 (GRCm39) missense probably benign 0.04
R6940:Nr4a3 UTSW 4 48,051,486 (GRCm39) missense probably benign 0.04
R7076:Nr4a3 UTSW 4 48,055,957 (GRCm39) missense probably damaging 1.00
R7322:Nr4a3 UTSW 4 48,083,238 (GRCm39) missense probably benign 0.00
R7347:Nr4a3 UTSW 4 48,051,290 (GRCm39) missense possibly damaging 0.94
R7348:Nr4a3 UTSW 4 48,051,290 (GRCm39) missense possibly damaging 0.94
R7349:Nr4a3 UTSW 4 48,051,290 (GRCm39) missense possibly damaging 0.94
R7361:Nr4a3 UTSW 4 48,083,203 (GRCm39) missense probably benign 0.00
R7365:Nr4a3 UTSW 4 48,051,290 (GRCm39) missense possibly damaging 0.94
R7366:Nr4a3 UTSW 4 48,051,290 (GRCm39) missense possibly damaging 0.94
R7418:Nr4a3 UTSW 4 48,051,476 (GRCm39) missense probably damaging 1.00
R7659:Nr4a3 UTSW 4 48,051,269 (GRCm39) missense probably damaging 1.00
R7895:Nr4a3 UTSW 4 48,051,390 (GRCm39) missense probably benign
R7986:Nr4a3 UTSW 4 48,055,954 (GRCm39) missense probably damaging 1.00
R8022:Nr4a3 UTSW 4 48,051,510 (GRCm39) missense probably damaging 1.00
R8226:Nr4a3 UTSW 4 48,056,588 (GRCm39) missense probably damaging 1.00
R8328:Nr4a3 UTSW 4 48,051,323 (GRCm39) missense probably damaging 1.00
R8349:Nr4a3 UTSW 4 48,052,170 (GRCm39) missense probably benign 0.40
R8403:Nr4a3 UTSW 4 48,051,348 (GRCm39) missense probably damaging 1.00
R8449:Nr4a3 UTSW 4 48,052,170 (GRCm39) missense probably benign 0.40
R8941:Nr4a3 UTSW 4 48,051,756 (GRCm39) missense possibly damaging 0.89
R9026:Nr4a3 UTSW 4 48,052,194 (GRCm39) missense possibly damaging 0.66
R9045:Nr4a3 UTSW 4 48,067,694 (GRCm39) missense possibly damaging 0.92
R9473:Nr4a3 UTSW 4 48,052,143 (GRCm39) missense probably damaging 1.00
R9572:Nr4a3 UTSW 4 48,051,258 (GRCm39) missense probably damaging 1.00
R9660:Nr4a3 UTSW 4 48,051,353 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGACCTGCTCCCAAACTTAC -3'
(R):5'- GAGCTGCTTTTCCCCTGAAG -3'

Sequencing Primer
(F):5'- TGCTCCCAAACTTACCAACTTC -3'
(R):5'- TTTTCCCCTGAAGGAAGGAC -3'
Posted On 2014-08-25