Incidental Mutation 'IGL00162:Nr4a1'
ID881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr4a1
Ensembl Gene ENSMUSG00000023034
Gene Namenuclear receptor subfamily 4, group A, member 1
SynonymsTR3, Hbr1, Hmr, Gfrp, Hbr-1, NP10, GFRP1, NGFI-B, TIS1, Nur77, N10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00162
Quality Score
Status
Chromosome15
Chromosomal Location101254269-101274795 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101270899 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 272 (V272A)
Ref Sequence ENSEMBL: ENSMUSP00000155225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023779] [ENSMUST00000228985] [ENSMUST00000230814]
Predicted Effect probably damaging
Transcript: ENSMUST00000023779
AA Change: V272A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023779
Gene: ENSMUSG00000023034
AA Change: V272A

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: V272A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C330021F23Rik A G 8: 3,583,904 T2A probably benign Het
Cc2d1b T G 4: 108,627,378 L470R probably damaging Het
Cd96 A T 16: 46,071,799 N275K possibly damaging Het
Col22a1 A G 15: 71,860,958 probably null Het
Cyb561 T C 11: 105,935,836 H197R probably damaging Het
Dlgap1 T C 17: 70,516,085 S22P probably benign Het
Dnajc6 A G 4: 101,508,089 probably benign Het
Fgf6 A T 6: 127,024,085 K185N possibly damaging Het
Fshr T C 17: 88,986,191 N353S probably damaging Het
Gabbr1 T A 17: 37,048,443 Y103* probably null Het
Gm7247 G A 14: 51,523,505 C177Y possibly damaging Het
Hikeshi A G 7: 89,935,781 F72L probably damaging Het
Ikzf4 T C 10: 128,634,547 E368G probably benign Het
Kdm3b A G 18: 34,809,409 E851G probably benign Het
Kif3b A G 2: 153,317,131 D284G probably damaging Het
Kyat3 G A 3: 142,734,474 A320T probably benign Het
Mok C T 12: 110,808,197 probably benign Het
Mrgpra3 A G 7: 47,589,519 F220L probably benign Het
Olfr1124 A G 2: 87,435,063 H192R probably benign Het
Olfr703 A G 7: 106,845,367 Y252C possibly damaging Het
Pikfyve T A 1: 65,260,121 probably null Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Ptpn12 T C 5: 21,029,850 E45G probably damaging Het
Ralgps1 A T 2: 33,137,682 *516R probably null Het
Senp6 A G 9: 80,116,610 D385G probably damaging Het
Siglech T C 7: 55,772,591 probably benign Het
Slit1 A G 19: 41,650,835 L212P probably damaging Het
Smchd1 T A 17: 71,465,673 probably benign Het
Snapc4 A T 2: 26,369,312 C609S probably benign Het
Strn3 T C 12: 51,661,196 T139A possibly damaging Het
Tcaf3 T C 6: 42,593,385 T478A probably benign Het
Tlr3 A G 8: 45,400,690 S198P probably damaging Het
Ttn C T 2: 76,890,479 probably benign Het
Vil1 G A 1: 74,423,875 E406K probably damaging Het
Zfp462 A G 4: 55,011,483 probably null Het
Zfyve9 A G 4: 108,642,107 V1338A possibly damaging Het
Other mutations in Nr4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Nr4a1 APN 15 101272788 missense probably damaging 1.00
IGL01326:Nr4a1 APN 15 101274059 missense probably damaging 1.00
R0539:Nr4a1 UTSW 15 101270884 missense probably damaging 1.00
R1853:Nr4a1 UTSW 15 101271764 missense probably benign 0.00
R1854:Nr4a1 UTSW 15 101271764 missense probably benign 0.00
R1909:Nr4a1 UTSW 15 101274227 missense probably damaging 1.00
R2073:Nr4a1 UTSW 15 101274067 missense probably damaging 0.96
R2392:Nr4a1 UTSW 15 101274194 missense possibly damaging 0.70
R2402:Nr4a1 UTSW 15 101271737 missense probably damaging 0.98
R3001:Nr4a1 UTSW 15 101270972 splice site probably null
R3002:Nr4a1 UTSW 15 101270972 splice site probably null
R4190:Nr4a1 UTSW 15 101274112 missense probably damaging 1.00
R5218:Nr4a1 UTSW 15 101272153 missense probably benign 0.02
R6363:Nr4a1 UTSW 15 101274115 missense probably damaging 1.00
R7559:Nr4a1 UTSW 15 101270899 missense probably damaging 1.00
R7910:Nr4a1 UTSW 15 101271760 missense probably damaging 1.00
R7991:Nr4a1 UTSW 15 101271760 missense probably damaging 1.00
Posted On2011-07-12