Incidental Mutation 'R1755:Nr4a2'
ID 194754
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 039787-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1755 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 56996845-57014018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56999104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 381 (L381F)
Ref Sequence ENSEMBL: ENSMUSP00000138824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028166] [ENSMUST00000112627] [ENSMUST00000112629] [ENSMUST00000183542]
AlphaFold Q06219
Predicted Effect probably damaging
Transcript: ENSMUST00000028166
AA Change: L444F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: L444F

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 damaging
Transcript: ENSMUST00000112627
AA Change: L381F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826
AA Change: L381F

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: L444F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: L444F

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 noncoding transcript
Transcript: ENSMUST00000128776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140165
Predicted Effect probably damaging
Transcript: ENSMUST00000183542
AA Change: L381F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138824
Gene: ENSMUSG00000026826
AA Change: L381F

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G A 8: 88,315,585 (GRCm39) R225H possibly damaging Het
9330159F19Rik A T 10: 29,098,290 (GRCm39) H199L possibly damaging Het
Acaca AC A 11: 84,167,390 (GRCm39) probably null Het
Adam23 G A 1: 63,582,329 (GRCm39) V326M probably damaging Het
Aldh1a2 T A 9: 71,169,023 (GRCm39) Y168* probably null Het
Ano6 A G 15: 95,870,451 (GRCm39) K869E possibly damaging Het
Aplp2 G A 9: 31,088,400 (GRCm39) A106V probably damaging Het
Arhgdib T A 6: 136,906,612 (GRCm39) K30* probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atg7 A G 6: 114,650,638 (GRCm39) T83A possibly damaging Het
Card9 T C 2: 26,249,546 (GRCm39) E5G probably damaging Het
Cars1 A G 7: 143,123,194 (GRCm39) V474A probably damaging Het
Cd300ld2 A G 11: 114,904,601 (GRCm39) F89L probably benign Het
Celf2 T A 2: 6,889,769 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,451,205 (GRCm39) D2174G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cox6b2 A G 7: 4,754,937 (GRCm39) F74S probably damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Ddx3y A G Y: 1,279,543 (GRCm39) I107T probably benign Het
Dnah5 A T 15: 28,326,782 (GRCm39) Y1997F probably damaging Het
Dync2i1 A G 12: 116,189,649 (GRCm39) L620P probably damaging Het
Epha4 A T 1: 77,364,460 (GRCm39) I683N probably damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gmip A G 8: 70,266,774 (GRCm39) I296M probably damaging Het
Gpr37l1 A G 1: 135,094,639 (GRCm39) S202P probably damaging Het
Ifi208 C A 1: 173,505,476 (GRCm39) D75E possibly damaging Het
Il24 T C 1: 130,811,680 (GRCm39) N132S possibly damaging Het
Katnal2 A G 18: 77,099,763 (GRCm39) C124R probably benign Het
Kcnq3 A T 15: 65,867,270 (GRCm39) L791Q probably damaging Het
Kcns3 T A 12: 11,141,445 (GRCm39) D418V probably benign Het
Kif13a A G 13: 46,906,089 (GRCm39) V618A possibly damaging Het
Kif13a A T 13: 46,927,154 (GRCm39) V1179E possibly damaging Het
Lpp A G 16: 24,663,874 (GRCm39) I259V probably benign Het
Mapkapk2 A G 1: 130,986,087 (GRCm39) probably null Het
Marchf7 T C 2: 60,065,265 (GRCm39) S514P probably benign Het
Nt5dc3 A G 10: 86,660,115 (GRCm39) D328G probably damaging Het
Obox6 T C 7: 15,568,445 (GRCm39) K144E probably damaging Het
Oga A T 19: 45,746,845 (GRCm39) M735K possibly damaging Het
Olfml2b G A 1: 170,509,346 (GRCm39) V565M probably damaging Het
Or1d2 T C 11: 74,255,819 (GRCm39) V108A probably damaging Het
Orc3 G A 4: 34,575,114 (GRCm39) A590V possibly damaging Het
Picalm T C 7: 89,809,757 (GRCm39) S78P possibly damaging Het
Por T A 5: 135,758,339 (GRCm39) Y105* probably null Het
Ppara A G 15: 85,682,180 (GRCm39) K292R probably benign Het
Pramel27 T C 4: 143,577,380 (GRCm39) F3S probably damaging Het
Prss59 T G 6: 40,903,096 (GRCm39) Y92S probably damaging Het
Ralgds T A 2: 28,440,558 (GRCm39) I844N probably damaging Het
Rttn T C 18: 89,027,441 (GRCm39) Y519H probably damaging Het
Scn9a A G 2: 66,332,060 (GRCm39) V1261A probably benign Het
Slc2a2 T A 3: 28,767,811 (GRCm39) probably null Het
Slc5a7 T C 17: 54,600,006 (GRCm39) M136V probably benign Het
Smc4 C A 3: 68,941,441 (GRCm39) A1232E probably damaging Het
Smg1 A T 7: 117,802,287 (GRCm39) C270* probably null Het
Sparcl1 C T 5: 104,240,690 (GRCm39) E245K probably benign Het
Taf2 T C 15: 54,879,850 (GRCm39) H1162R probably damaging Het
Tlr3 T C 8: 45,851,010 (GRCm39) D105G probably benign Het
Tmem62 T C 2: 120,814,958 (GRCm39) probably null Het
Triobp G A 15: 78,850,679 (GRCm39) A278T probably benign Het
Ufd1 T G 16: 18,642,003 (GRCm39) C151W probably damaging Het
Upk1b T G 16: 38,600,402 (GRCm39) M193L probably benign Het
Usp15 A G 10: 122,968,949 (GRCm39) M334T probably damaging Het
Utp20 A G 10: 88,645,631 (GRCm39) S541P probably benign Het
Vmn1r61 A T 7: 5,614,302 (GRCm39) L4* probably null Het
Vmn2r96 G A 17: 18,802,915 (GRCm39) G83D possibly damaging Het
Zbtb8a T C 4: 129,248,110 (GRCm39) D387G possibly damaging Het
Zfp106 A T 2: 120,365,656 (GRCm39) N250K probably damaging Het
Zfp292 A G 4: 34,811,043 (GRCm39) V667A 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
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
R7256:Nr4a2 UTSW 2 57,002,381 (GRCm39) missense probably damaging 1.00
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'- TTGCAACCTGTGCAAGACCACC -3'
(R):5'- CAGTTCCAGGCAAACCCTGACTATC -3'

Sequencing Primer
(F):5'- AAGATGAGTTTACCCTCCACTGG -3'
(R):5'- CCCTGACTATCAGATGAGTGG -3'
Posted On 2014-05-23