Incidental Mutation 'IGL01326:Nr4a1'
ID 74264
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 # IGL01326
Quality Score
Status
Chromosome 15
Chromosomal Location 101152150-101172676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101171940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 538 (L538R)
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: L538R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023779
Gene: ENSMUSG00000023034
AA Change: L538R

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: L538R

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Nr4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Nr4a1 APN 15 101,168,780 (GRCm39) missense probably damaging 1.00
IGL00966:Nr4a1 APN 15 101,170,669 (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 2013-10-07