Incidental Mutation 'R7256:Nr4a2'
ID 564243
Institutional Source Beutler Lab
Gene Symbol Nr4a2
Ensembl Gene ENSMUSG00000026826
Gene Name nuclear receptor subfamily 4, group A, member 2
Synonyms HZF-3, Nurr1, RNR-1
MMRRC Submission 045317-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7256 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 56996845-57014018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57002381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 24 (Y24C)
Ref Sequence ENSEMBL: ENSMUSP00000028166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028166] [ENSMUST00000112627] [ENSMUST00000112629] [ENSMUST00000183542]
AlphaFold Q06219
Predicted Effect probably damaging
Transcript: ENSMUST00000028166
AA Change: Y24C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: Y24C

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 124 134 N/A INTRINSIC
ZnF_C4 260 331 2.45e-39 SMART
low complexity region 346 363 N/A INTRINSIC
HOLI 408 566 1.03e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112627
SMART Domains Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826

DomainStartEndE-ValueType
low complexity region 61 71 N/A INTRINSIC
ZnF_C4 197 268 2.45e-39 SMART
low complexity region 283 300 N/A INTRINSIC
HOLI 345 503 1.03e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112629
AA Change: Y24C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: Y24C

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 124 134 N/A INTRINSIC
ZnF_C4 260 331 2.45e-39 SMART
low complexity region 346 363 N/A INTRINSIC
HOLI 408 566 1.03e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183542
SMART Domains Protein: ENSMUSP00000138824
Gene: ENSMUSG00000026826

DomainStartEndE-ValueType
low complexity region 61 71 N/A INTRINSIC
ZnF_C4 197 268 2.45e-39 SMART
low complexity region 283 300 N/A INTRINSIC
Pfam:Hormone_recep 322 392 9.1e-8 PFAM
Meta Mutation Damage Score 0.1066 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene fail to develop dopaminergic neurons in the mesencephalon and die within the first 12 hours of life. Heterozygotes suffer from reduced motor performance in old age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,659,923 (GRCm39) Y790H probably damaging Het
Bend3 A C 10: 43,369,667 (GRCm39) S7R probably benign Het
Ccdc106 A G 7: 5,063,325 (GRCm39) T277A probably damaging Het
Ccdc162 G A 10: 41,431,997 (GRCm39) A1832V probably damaging Het
Ccser1 A G 6: 61,288,851 (GRCm39) E338G probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cecr2 T C 6: 120,739,490 (GRCm39) S1406P probably benign Het
Cep290 A G 10: 100,382,360 (GRCm39) T208A probably damaging Het
Cep85l A C 10: 53,172,351 (GRCm39) C569W probably damaging Het
Ces5a G A 8: 94,226,154 (GRCm39) T527I probably benign Het
Clca3a2 T A 3: 144,796,608 (GRCm39) I200F probably damaging Het
Cmas G A 6: 142,716,312 (GRCm39) D251N probably damaging Het
Ctcfl G T 2: 172,960,268 (GRCm39) A105E probably benign Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dctn6 A T 8: 34,557,962 (GRCm39) I170N probably damaging Het
Dnah2 T C 11: 69,321,920 (GRCm39) Y3800C probably damaging Het
Dsg2 G A 18: 20,724,988 (GRCm39) V465I possibly damaging Het
Dzip1 T C 14: 119,123,058 (GRCm39) T646A probably benign Het
Etv4 T A 11: 101,675,151 (GRCm39) probably null Het
Exoc3l2 T C 7: 19,218,628 (GRCm39) V549A unknown Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
Fry T G 5: 150,390,251 (GRCm39) I179S Het
Galntl5 A G 5: 25,400,298 (GRCm39) H109R probably benign Het
Garem1 C A 18: 21,281,811 (GRCm39) G182W probably damaging Het
Gm5916 A T 9: 36,032,285 (GRCm39) Y50N possibly damaging Het
Gtf2h2 A T 13: 100,615,709 (GRCm39) F271I probably benign Het
Hivep2 G T 10: 14,004,845 (GRCm39) S481I probably benign Het
Homez T A 14: 55,094,877 (GRCm39) Q277L probably damaging Het
Hoxb4 C A 11: 96,210,722 (GRCm39) probably null Het
Igll1 A G 16: 16,678,957 (GRCm39) S118P probably damaging Het
Ikzf2 A C 1: 69,617,212 (GRCm39) probably null Het
Kif5b A G 18: 6,225,340 (GRCm39) V230A probably damaging Het
Ldlr T A 9: 21,657,040 (GRCm39) V719E probably benign Het
Lsm7 G A 10: 80,689,565 (GRCm39) R66W possibly damaging Het
Map3k13 T A 16: 21,710,988 (GRCm39) D90E probably benign Het
Mmrn1 A G 6: 60,953,098 (GRCm39) K460E probably damaging Het
Myh10 A C 11: 68,681,515 (GRCm39) N1061H probably damaging Het
Nepn A G 10: 52,277,089 (GRCm39) Q275R probably benign Het
Noc3l A T 19: 38,800,800 (GRCm39) D227E probably benign Het
Nploc4 G T 11: 120,319,376 (GRCm39) S61R probably benign Het
Nup160 T A 2: 90,553,699 (GRCm39) I1143N probably damaging Het
Or14a256 G T 7: 86,264,873 (GRCm39) H327N probably benign Het
Or4a15 A T 2: 89,192,838 (GRCm39) Y312N probably benign Het
Or8c17 T A 9: 38,180,004 (GRCm39) M57K probably damaging Het
Or8h7 A G 2: 86,720,956 (GRCm39) S188P probably damaging Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgap1 A T 1: 54,532,366 (GRCm39) probably null Het
Pitrm1 A G 13: 6,606,633 (GRCm39) H229R probably damaging Het
Plcl1 A G 1: 55,737,377 (GRCm39) Q906R probably benign Het
Ppfia3 T C 7: 44,991,167 (GRCm39) N1018S probably benign Het
Pramel24 T A 4: 143,452,849 (GRCm39) D93E probably benign Het
Prkd1 A G 12: 50,435,125 (GRCm39) V534A possibly damaging Het
Pygm A T 19: 6,435,926 (GRCm39) I126F probably benign Het
Rag1 T C 2: 101,472,415 (GRCm39) Y909C probably damaging Het
Rasgrf2 G A 13: 92,032,637 (GRCm39) Q560* probably null Het
Rbp3 A T 14: 33,684,540 (GRCm39) I1190F possibly damaging Het
Reln T C 5: 22,183,921 (GRCm39) K1693E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rsph3a A G 17: 8,165,002 (GRCm39) T121A probably benign Het
Rufy3 A G 5: 88,762,806 (GRCm39) N112S possibly damaging Het
Ryr3 G A 2: 112,502,591 (GRCm39) Q3548* probably null Het
Sardh A T 2: 27,108,824 (GRCm39) V637D probably benign Het
Spata16 T C 3: 26,722,016 (GRCm39) V179A probably benign Het
Spopfm2 T C 3: 94,083,667 (GRCm39) E48G probably benign Het
Tbc1d30 G A 10: 121,124,870 (GRCm39) T319I probably damaging Het
Tlr2 T A 3: 83,744,913 (GRCm39) Q390L possibly damaging Het
Tmem53 C T 4: 117,109,237 (GRCm39) probably null Het
Vmn1r113 T A 7: 20,521,370 (GRCm39) I54N probably damaging Het
Vmn1r223 A C 13: 23,434,036 (GRCm39) Y210S probably damaging Het
Zbbx A T 3: 74,947,205 (GRCm39) H670Q probably benign Het
Other mutations in Nr4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Nr4a2 APN 2 56,999,229 (GRCm39) missense probably damaging 1.00
IGL01148:Nr4a2 APN 2 57,001,983 (GRCm39) missense probably benign 0.00
IGL01395:Nr4a2 APN 2 57,002,165 (GRCm39) missense probably damaging 0.98
IGL02123:Nr4a2 APN 2 57,001,667 (GRCm39) missense possibly damaging 0.95
IGL02311:Nr4a2 APN 2 57,001,743 (GRCm39) missense probably benign
IGL02698:Nr4a2 APN 2 56,998,172 (GRCm39) missense probably damaging 1.00
IGL03178:Nr4a2 APN 2 57,000,778 (GRCm39) missense probably damaging 1.00
IGL03261:Nr4a2 APN 2 57,000,199 (GRCm39) missense probably benign 0.40
R0025:Nr4a2 UTSW 2 56,998,627 (GRCm39) missense probably benign 0.14
R0078:Nr4a2 UTSW 2 57,002,240 (GRCm39) missense probably damaging 1.00
R1138:Nr4a2 UTSW 2 57,002,391 (GRCm39) missense probably damaging 0.96
R1222:Nr4a2 UTSW 2 56,998,336 (GRCm39) missense probably damaging 0.97
R1418:Nr4a2 UTSW 2 56,998,336 (GRCm39) missense probably damaging 0.97
R1755:Nr4a2 UTSW 2 56,999,104 (GRCm39) missense probably damaging 1.00
R2265:Nr4a2 UTSW 2 57,002,018 (GRCm39) missense possibly damaging 0.77
R2266:Nr4a2 UTSW 2 57,002,018 (GRCm39) missense possibly damaging 0.77
R2267:Nr4a2 UTSW 2 57,002,018 (GRCm39) missense possibly damaging 0.77
R2281:Nr4a2 UTSW 2 57,002,211 (GRCm39) missense probably benign 0.00
R4191:Nr4a2 UTSW 2 57,002,391 (GRCm39) missense probably damaging 0.96
R4706:Nr4a2 UTSW 2 57,002,225 (GRCm39) missense probably damaging 1.00
R4707:Nr4a2 UTSW 2 57,002,105 (GRCm39) missense probably benign 0.17
R4745:Nr4a2 UTSW 2 57,000,163 (GRCm39) missense probably damaging 1.00
R4924:Nr4a2 UTSW 2 57,002,035 (GRCm39) missense probably benign 0.00
R5350:Nr4a2 UTSW 2 57,001,877 (GRCm39) missense probably damaging 0.98
R5495:Nr4a2 UTSW 2 57,002,387 (GRCm39) missense probably damaging 1.00
R6139:Nr4a2 UTSW 2 56,998,701 (GRCm39) missense probably damaging 0.98
R6156:Nr4a2 UTSW 2 57,002,364 (GRCm39) missense probably damaging 1.00
R6325:Nr4a2 UTSW 2 57,002,430 (GRCm39) missense probably damaging 1.00
R6674:Nr4a2 UTSW 2 57,002,436 (GRCm39) missense probably damaging 1.00
R6786:Nr4a2 UTSW 2 57,001,920 (GRCm39) missense probably benign 0.29
R6968:Nr4a2 UTSW 2 56,998,758 (GRCm39) splice site probably null
R7135:Nr4a2 UTSW 2 57,002,261 (GRCm39) missense possibly damaging 0.80
R7495:Nr4a2 UTSW 2 57,002,171 (GRCm39) missense possibly damaging 0.89
R7596:Nr4a2 UTSW 2 56,998,243 (GRCm39) missense probably damaging 1.00
R7733:Nr4a2 UTSW 2 57,002,333 (GRCm39) missense probably benign 0.01
R7812:Nr4a2 UTSW 2 57,002,430 (GRCm39) missense probably damaging 1.00
R9058:Nr4a2 UTSW 2 57,002,255 (GRCm39) missense probably benign 0.26
R9208:Nr4a2 UTSW 2 56,999,093 (GRCm39) missense probably damaging 1.00
R9471:Nr4a2 UTSW 2 57,002,114 (GRCm39) missense probably benign 0.01
R9564:Nr4a2 UTSW 2 57,000,190 (GRCm39) missense probably damaging 1.00
Z1088:Nr4a2 UTSW 2 57,001,626 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTAATGGAGGACTGCTGTC -3'
(R):5'- GACCCTCAACAGCTTTCCAG -3'

Sequencing Primer
(F):5'- CGGACAGGGGCATTTGGTAC -3'
(R):5'- TCGTCCCGGGATCAGCC -3'
Posted On 2019-06-26