Incidental Mutation 'R9058:Nr4a2'
ID 688795
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 068884-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 56996845-57014018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57002255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 66 (N66S)
Ref Sequence ENSEMBL: ENSMUSP00000028166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028166] [ENSMUST00000112627] [ENSMUST00000112629] [ENSMUST00000183542]
AlphaFold Q06219
Predicted Effect probably benign
Transcript: ENSMUST00000028166
AA Change: N66S

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: N66S

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: N3S

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826
AA Change: N3S

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: N66S

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: N66S

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
AA Change: N3S

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138824
Gene: ENSMUSG00000026826
AA Change: N3S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T C 11: 116,080,268 (GRCm39) T135A possibly damaging Het
Adrm1b A T 3: 92,335,559 (GRCm39) M283K probably benign Het
Aldh8a1 T C 10: 21,258,344 (GRCm39) I147T possibly damaging Het
Alkbh5 T C 11: 60,444,548 (GRCm39) L288S probably benign Het
Bpifb5 A G 2: 154,080,817 (GRCm39) D478G possibly damaging Het
Cacna1s A T 1: 135,998,436 (GRCm39) K155* probably null Het
Ccser1 T C 6: 61,350,976 (GRCm39) L511P probably damaging Het
Cebpz A T 17: 79,243,227 (GRCm39) N142K probably benign Het
Cfap299 A T 5: 98,932,400 (GRCm39) D200V probably damaging Het
Clip1 G T 5: 123,752,645 (GRCm39) R379S Het
Cpne8 T A 15: 90,381,276 (GRCm39) I513F probably damaging Het
Ctnnb1 T A 9: 120,780,476 (GRCm39) C213* probably null Het
Dnah7b A G 1: 46,282,575 (GRCm39) K2903E probably damaging Het
Dnah7c G T 1: 46,805,816 (GRCm39) G3422W probably damaging Het
Dnhd1 T A 7: 105,333,270 (GRCm39) H247Q probably benign Het
Efna2 A G 10: 80,022,720 (GRCm39) Y88C probably damaging Het
Eppk1 C T 15: 75,992,265 (GRCm39) G1539R probably benign Het
Exoc3l2 A T 7: 19,203,821 (GRCm39) K138* probably null Het
Fam47e A G 5: 92,719,367 (GRCm39) probably benign Het
Frmpd1 T A 4: 45,283,948 (GRCm39) M923K probably damaging Het
Gbe1 A G 16: 70,324,059 (GRCm39) E558G possibly damaging Het
Gm5431 T C 11: 48,786,049 (GRCm39) T109A probably benign Het
Gm9508 G A 10: 77,532,620 (GRCm39) P150S unknown Het
Grep1 T C 17: 23,935,016 (GRCm39) N63S probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hrob T C 11: 102,146,386 (GRCm39) S221P probably benign Het
Hsfy2 A T 1: 56,676,504 (GRCm39) V11D probably benign Het
Kif13a T C 13: 46,944,941 (GRCm39) N887D probably damaging Het
Kirrel1 A G 3: 86,992,442 (GRCm39) V541A probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lamc3 G A 2: 31,798,653 (GRCm39) R453H probably benign Het
Mideas A G 12: 84,220,642 (GRCm39) M104T probably damaging Het
Muc6 G C 7: 141,218,154 (GRCm39) T2173S possibly damaging Het
Neb T C 2: 52,075,341 (GRCm39) N208S probably benign Het
Nlrc5 A T 8: 95,238,938 (GRCm39) T1459S possibly damaging Het
Npy1r T C 8: 67,156,600 (GRCm39) S7P probably benign Het
Nr5a1 T C 2: 38,584,034 (GRCm39) T462A probably damaging Het
Ntng2 A G 2: 29,094,202 (GRCm39) C390R probably benign Het
Or4p23 A C 2: 88,577,030 (GRCm39) D67E Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Or7g12 T A 9: 18,900,222 (GRCm39) *313R probably null Het
Pecam1 G T 11: 106,590,675 (GRCm39) P33Q probably damaging Het
Phc2 T A 4: 128,616,769 (GRCm39) F347L probably benign Het
Phldb2 T A 16: 45,592,604 (GRCm39) H938L possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prkch G T 12: 73,822,308 (GRCm39) probably null Het
Prr5 A G 15: 84,641,241 (GRCm39) N169S probably benign Het
Puf60 C T 15: 75,942,425 (GRCm39) D483N probably benign Het
Puf60 C T 15: 75,944,382 (GRCm39) M133I probably benign Het
Rmnd1 T C 10: 4,363,398 (GRCm39) H284R probably benign Het
Scaper T C 9: 55,722,762 (GRCm39) E682G probably damaging Het
Sds A G 5: 120,618,779 (GRCm39) E111G possibly damaging Het
Sec23b T A 2: 144,424,010 (GRCm39) I553N probably damaging Het
Serpina1a A T 12: 103,820,001 (GRCm39) I415K possibly damaging Het
Slc14a1 T A 18: 78,145,785 (GRCm39) probably null Het
Socs1 G A 16: 10,602,692 (GRCm39) P15L probably benign Het
Sv2b A T 7: 74,789,822 (GRCm39) probably null Het
Sync T C 4: 129,187,217 (GRCm39) I83T probably damaging Het
Syt16 T A 12: 74,282,019 (GRCm39) L381Q probably damaging Het
Tbx20 T C 9: 24,681,019 (GRCm39) R158G probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmem19 C A 10: 115,198,031 (GRCm39) probably benign Het
Trpa1 A C 1: 14,959,618 (GRCm39) N689K probably damaging Het
Ube3b C A 5: 114,553,300 (GRCm39) H891N probably benign Het
Vmn2r19 T A 6: 123,313,021 (GRCm39) M697K possibly damaging Het
Zfp142 A T 1: 74,608,955 (GRCm39) C1613* probably null Het
Zfp7 T A 15: 76,764,981 (GRCm39) M1K probably null Het
Zfp936 A T 7: 42,839,196 (GRCm39) Q221L 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
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
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'- TGTAGTAAACCGACCCGCTG -3'
(R):5'- TTGACCAGGCTGAGTGTATATCAC -3'

Sequencing Primer
(F):5'- GTGTGGCATCATCTCCTCGGAC -3'
(R):5'- CAGCCATGCCTTGTGTTCAGG -3'
Posted On 2021-11-19