Incidental Mutation 'IGL00966:Nr4a1'
ID 29093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr4a1
Ensembl Gene ENSMUSG00000023034
Gene Name nuclear receptor subfamily 4, group A, member 1
Synonyms Hmr, NP10, GFRP1, NGFI-B, Gfrp, Nur77, TIS1, N10, Hbr-1, TR3, Hbr1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00966
Quality Score
Status
Chromosome 15
Chromosomal Location 101152150-101172676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101170669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 413 (L413P)
Ref Sequence ENSEMBL: ENSMUSP00000155225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023779] [ENSMUST00000228985] [ENSMUST00000230814]
AlphaFold P12813
Predicted Effect probably damaging
Transcript: ENSMUST00000023779
AA Change: L413P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023779
Gene: ENSMUSG00000023034
AA Change: L413P

DomainStartEndE-ValueType
low complexity region 37 52 N/A INTRINSIC
low complexity region 77 102 N/A INTRINSIC
low complexity region 183 204 N/A INTRINSIC
ZnF_C4 267 338 1.93e-37 SMART
HOLI 411 569 3.77e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000228985
AA Change: L413P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231153
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. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile, and display a normal HPA axis function, as well as normal thymic and peripheral T cell deletion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Nr4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Nr4a1 APN 15 101,168,780 (GRCm39) missense probably damaging 1.00
IGL01326:Nr4a1 APN 15 101,171,940 (GRCm39) missense probably damaging 1.00
R0539:Nr4a1 UTSW 15 101,168,765 (GRCm39) missense probably damaging 1.00
R1853:Nr4a1 UTSW 15 101,169,645 (GRCm39) missense probably benign 0.00
R1854:Nr4a1 UTSW 15 101,169,645 (GRCm39) missense probably benign 0.00
R1909:Nr4a1 UTSW 15 101,172,108 (GRCm39) missense probably damaging 1.00
R2073:Nr4a1 UTSW 15 101,171,948 (GRCm39) missense probably damaging 0.96
R2392:Nr4a1 UTSW 15 101,172,075 (GRCm39) missense possibly damaging 0.70
R2402:Nr4a1 UTSW 15 101,169,618 (GRCm39) missense probably damaging 0.98
R3001:Nr4a1 UTSW 15 101,168,853 (GRCm39) splice site probably null
R3002:Nr4a1 UTSW 15 101,168,853 (GRCm39) splice site probably null
R4190:Nr4a1 UTSW 15 101,171,993 (GRCm39) missense probably damaging 1.00
R5218:Nr4a1 UTSW 15 101,170,034 (GRCm39) missense probably benign 0.02
R6363:Nr4a1 UTSW 15 101,171,996 (GRCm39) missense probably damaging 1.00
R7559:Nr4a1 UTSW 15 101,168,780 (GRCm39) missense probably damaging 1.00
R7910:Nr4a1 UTSW 15 101,169,641 (GRCm39) missense probably damaging 1.00
R8387:Nr4a1 UTSW 15 101,171,053 (GRCm39) missense probably damaging 0.98
R9428:Nr4a1 UTSW 15 101,168,245 (GRCm39) missense probably damaging 1.00
R9449:Nr4a1 UTSW 15 101,168,053 (GRCm39) missense probably benign
Posted On 2013-04-17