Incidental Mutation 'IGL03178:Nr4a2'
ID 412096
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 # IGL03178
Quality Score
Status
Chromosome 2
Chromosomal Location 56996845-57014018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57000778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 226 (R226C)
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: R289C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: R289C

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: R226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826
AA Change: R226C

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: R289C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: R289C

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: R226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138824
Gene: ENSMUSG00000026826
AA Change: R226C

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 A G 5: 34,771,589 (GRCm39) probably null Het
Afg2a T C 3: 37,632,932 (GRCm39) L846P probably damaging Het
Alpk1 A T 3: 127,473,870 (GRCm39) L711* probably null Het
Arfgef3 A T 10: 18,488,973 (GRCm39) W1291R probably damaging Het
Arhgef10l A G 4: 140,271,739 (GRCm39) V545A possibly damaging Het
Best3 A G 10: 116,824,684 (GRCm39) Y50C probably damaging Het
C1qtnf2 C A 11: 43,381,816 (GRCm39) D179E probably damaging Het
Cdc40 A T 10: 40,723,985 (GRCm39) S268T probably benign Het
Ces1a C T 8: 93,747,517 (GRCm39) G505R probably damaging Het
Cpd A T 11: 76,696,877 (GRCm39) N683K probably benign Het
D430041D05Rik A T 2: 104,051,556 (GRCm39) I767N probably damaging Het
Diras1 G T 10: 80,858,211 (GRCm39) F13L possibly damaging Het
Dnah7c A G 1: 46,506,525 (GRCm39) N201D probably benign Het
Dpy19l3 A T 7: 35,429,154 (GRCm39) Y9* probably null Het
Ect2 T A 3: 27,203,009 (GRCm39) I79L probably benign Het
Eif2b4 A T 5: 31,344,997 (GRCm39) I550N probably damaging Het
Enpp2 T A 15: 54,729,402 (GRCm39) M476L probably benign Het
Gm20425 A G 9: 103,087,751 (GRCm39) Y654H probably damaging Het
Gm5884 T C 6: 128,622,690 (GRCm39) noncoding transcript Het
Gtf3c6 A T 10: 40,125,718 (GRCm39) D166E probably benign Het
Gucy2c A T 6: 136,706,237 (GRCm39) probably benign Het
Inpp5b A G 4: 124,679,047 (GRCm39) T485A probably benign Het
Insrr A G 3: 87,709,848 (GRCm39) probably null Het
Lig3 T C 11: 82,680,548 (GRCm39) probably benign Het
Lmo7 T A 14: 102,166,696 (GRCm39) Y1047* probably null Het
Map4k4 A G 1: 40,025,853 (GRCm39) E281G possibly damaging Het
Mmel1 A G 4: 154,975,311 (GRCm39) T431A possibly damaging Het
Myh10 T C 11: 68,590,239 (GRCm39) V58A probably benign Het
Myo1e A T 9: 70,194,231 (GRCm39) H14L possibly damaging Het
Myo1g C T 11: 6,462,181 (GRCm39) V594M probably damaging Het
Obox3 A G 7: 15,361,202 (GRCm39) L21P probably benign Het
Or2y13 A G 11: 49,414,817 (GRCm39) D89G possibly damaging Het
Pate12 T G 9: 36,344,132 (GRCm39) S38R probably benign Het
Phlpp1 T A 1: 106,320,118 (GRCm39) I1371N probably damaging Het
Pramel29 A G 4: 143,934,821 (GRCm39) probably null Het
Proser3 G A 7: 30,243,034 (GRCm39) A181V probably damaging Het
Pudp A T 18: 50,701,472 (GRCm39) L87Q probably benign Het
Siglecf T C 7: 43,008,163 (GRCm39) S559P probably damaging Het
Slc22a16 A G 10: 40,449,756 (GRCm39) H85R probably benign Het
Spata32 T C 11: 103,101,588 (GRCm39) D15G probably benign Het
Szt2 G A 4: 118,239,886 (GRCm39) A1899V unknown Het
Tomm40 C T 7: 19,435,759 (GRCm39) V324M probably damaging Het
Trgv7 C A 13: 19,362,211 (GRCm39) probably benign Het
Ttll4 C T 1: 74,719,567 (GRCm39) P25S probably damaging Het
Vps13b G T 15: 35,869,446 (GRCm39) C2650F probably damaging Het
Wdr83os T C 8: 85,807,870 (GRCm39) L40P probably damaging Het
Zfp977 T C 7: 42,232,072 (GRCm39) R64G 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
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
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 2016-08-02