Incidental Mutation 'IGL01395:Nr4a2'
ID 79391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr4a2
Ensembl Gene ENSMUSG00000026826
Gene Name nuclear receptor subfamily 4, group A, member 2
Synonyms HZF-3, Nurr1, RNR-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01395
Quality Score
Status
Chromosome 2
Chromosomal Location 56996845-57014018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57002165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 33 (Q33L)
Ref Sequence ENSEMBL: ENSMUSP00000138824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028166] [ENSMUST00000112627] [ENSMUST00000112629] [ENSMUST00000183542]
AlphaFold Q06219
Predicted Effect probably benign
Transcript: ENSMUST00000028166
AA Change: Q96L

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: Q96L

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
AA Change: Q33L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826
AA Change: Q33L

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 benign
Transcript: ENSMUST00000112629
AA Change: Q96L

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: Q96L

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: Q33L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138824
Gene: ENSMUSG00000026826
AA Change: Q33L

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging 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
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
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
Posted On 2013-11-05