Incidental Mutation 'R6091:Nr3c1'
ID 485950
Institutional Source Beutler Lab
Gene Symbol Nr3c1
Ensembl Gene ENSMUSG00000024431
Gene Name nuclear receptor subfamily 3, group C, member 1
Synonyms glucocorticoid receptor, Grl1, Grl-1, GR
MMRRC Submission 044248-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6091 (G1)
Quality Score 213.526
Status Not validated
Chromosome 18
Chromosomal Location 39543598-39652474 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC to GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC at 39620011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025300] [ENSMUST00000097592] [ENSMUST00000115567] [ENSMUST00000115571] [ENSMUST00000124115] [ENSMUST00000131885] [ENSMUST00000152853] [ENSMUST00000150483]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025300
SMART Domains Protein: ENSMUSP00000025300
Gene: ENSMUSG00000024431

DomainStartEndE-ValueType
Pfam:GCR 27 418 1.4e-166 PFAM
ZnF_C4 434 505 7.6e-36 SMART
HOLI 580 744 8.8e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097592
SMART Domains Protein: ENSMUSP00000095199
Gene: ENSMUSG00000024431

DomainStartEndE-ValueType
Pfam:GCR 27 86 9.2e-16 PFAM
Pfam:GCR 75 418 1.4e-161 PFAM
ZnF_C4 434 506 8.6e-35 SMART
HOLI 581 745 8.8e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115567
SMART Domains Protein: ENSMUSP00000111229
Gene: ENSMUSG00000024431

DomainStartEndE-ValueType
Pfam:GCR 27 418 1.4e-166 PFAM
ZnF_C4 434 505 7.6e-36 SMART
HOLI 580 744 8.8e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115571
SMART Domains Protein: ENSMUSP00000111233
Gene: ENSMUSG00000024431

DomainStartEndE-ValueType
Pfam:GCR 27 418 1.4e-166 PFAM
ZnF_C4 434 505 7.6e-36 SMART
HOLI 580 744 8.8e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124115
SMART Domains Protein: ENSMUSP00000119630
Gene: ENSMUSG00000024431

DomainStartEndE-ValueType
Pfam:GCR 27 130 1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131885
Predicted Effect probably benign
Transcript: ENSMUST00000152853
SMART Domains Protein: ENSMUSP00000120082
Gene: ENSMUSG00000024431

DomainStartEndE-ValueType
Pfam:GCR 27 418 5.7e-167 PFAM
ZnF_C4 434 488 5.65e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150483
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants die at birth of respiratory failure with underdeveloped lungs, enlarged adrenals, elevated serum corticosterone and ACTH, and failed adrenaline synthesis. Mice with a point mutation have impaired gluconeogenesis and erythropoiesis. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, knock-out(3) Targeted, other(8) Gene trapped(1)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T G 2: 35,252,348 (GRCm39) T50P possibly damaging Het
Adad1 A G 3: 37,139,118 (GRCm39) E396G possibly damaging Het
Adamtsl3 T A 7: 82,114,829 (GRCm39) C232S probably damaging Het
AI606181 T C 19: 41,582,063 (GRCm39) S78P unknown Het
Amph T A 13: 19,309,293 (GRCm39) M457K probably benign Het
Ano1 A T 7: 144,223,171 (GRCm39) M174K probably benign Het
C3 T A 17: 57,528,967 (GRCm39) K632* probably null Het
Cep170 C T 1: 176,583,397 (GRCm39) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm39) V124A probably damaging Het
Chd9 A G 8: 91,761,691 (GRCm39) K2259E probably damaging Het
Col7a1 A G 9: 108,784,402 (GRCm39) T137A unknown Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Ddx42 A T 11: 106,125,796 (GRCm39) Q282L probably damaging Het
Fcgbp A G 7: 27,804,390 (GRCm39) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,844,532 (GRCm39) I203T probably benign Het
Frem1 A G 4: 82,818,796 (GRCm39) I2139T probably benign Het
Frmpd2 T C 14: 33,244,820 (GRCm39) V546A probably damaging Het
Gbp11 G T 5: 105,479,254 (GRCm39) T123N possibly damaging Het
Hs3st1 G A 5: 39,772,007 (GRCm39) P212L probably damaging Het
Ifnb1 T A 4: 88,440,813 (GRCm39) M67L probably benign Het
Ighv1-54 T C 12: 115,157,497 (GRCm39) N50S probably benign Het
Ikzf4 G A 10: 128,470,542 (GRCm39) T326I probably benign Het
Ints2 A T 11: 86,127,429 (GRCm39) V501E probably damaging Het
Mfsd1 C A 3: 67,507,270 (GRCm39) probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mrps11 G A 7: 78,438,466 (GRCm39) A73T possibly damaging Het
Mterf4 T C 1: 93,229,291 (GRCm39) E311G probably damaging Het
Mx2 A G 16: 97,347,635 (GRCm39) T176A probably damaging Het
Mycbp2 A C 14: 103,460,482 (GRCm39) L1495R probably damaging Het
Myo3b A G 2: 70,069,113 (GRCm39) T451A probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Nbeal1 A G 1: 60,220,715 (GRCm39) probably benign Het
Ncor1 A G 11: 62,310,443 (GRCm39) L201P probably damaging Het
Nfxl1 G T 5: 72,671,533 (GRCm39) L909I probably benign Het
Or5aq1b T A 2: 86,901,705 (GRCm39) S258C probably benign Het
Plscr5 A G 9: 92,086,437 (GRCm39) T136A probably benign Het
Ppp1r3a G A 6: 14,719,339 (GRCm39) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Ryr1 T C 7: 28,771,398 (GRCm39) T2541A probably benign Het
Sall1 A G 8: 89,755,247 (GRCm39) L1244P probably damaging Het
Sec16a G A 2: 26,316,482 (GRCm39) H1673Y probably damaging Het
Slc22a19 A G 19: 7,688,428 (GRCm39) I44T probably benign Het
Snap91 T A 9: 86,721,681 (GRCm39) N53Y probably damaging Het
Sorcs1 T C 19: 50,276,539 (GRCm39) T338A possibly damaging Het
Taf6l T C 19: 8,755,920 (GRCm39) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm39) R487G probably damaging Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tnxb G A 17: 34,929,338 (GRCm39) V2794M probably damaging Het
Ush2a T G 1: 188,132,000 (GRCm39) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm39) I208F probably damaging Het
Vmn2r28 T A 7: 5,496,790 (GRCm39) I21F possibly damaging Het
Vmn2r93 A G 17: 18,545,958 (GRCm39) D610G probably benign Het
Wbp1 T C 6: 83,096,468 (GRCm39) S229G probably benign Het
Xirp1 A G 9: 119,847,029 (GRCm39) V618A probably benign Het
Zbtb32 A G 7: 30,291,254 (GRCm39) S14P possibly damaging Het
Zfp24 A G 18: 24,147,269 (GRCm39) S348P probably damaging Het
Other mutations in Nr3c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Nr3c1 APN 18 39,561,661 (GRCm39) splice site probably null
IGL00798:Nr3c1 APN 18 39,619,924 (GRCm39) missense probably damaging 1.00
IGL01527:Nr3c1 APN 18 39,619,690 (GRCm39) missense probably benign 0.00
IGL02088:Nr3c1 APN 18 39,557,444 (GRCm39) missense probably damaging 1.00
IGL02244:Nr3c1 APN 18 39,554,610 (GRCm39) unclassified probably benign
IGL03145:Nr3c1 APN 18 39,619,313 (GRCm39) missense probably damaging 1.00
IGL03236:Nr3c1 APN 18 39,619,444 (GRCm39) missense probably benign 0.00
3-1:Nr3c1 UTSW 18 39,619,092 (GRCm39) missense probably benign
R1296:Nr3c1 UTSW 18 39,620,051 (GRCm39) nonsense probably null
R2251:Nr3c1 UTSW 18 39,619,804 (GRCm39) missense probably benign 0.38
R2253:Nr3c1 UTSW 18 39,619,804 (GRCm39) missense probably benign 0.38
R2922:Nr3c1 UTSW 18 39,620,156 (GRCm39) missense possibly damaging 0.93
R4667:Nr3c1 UTSW 18 39,561,780 (GRCm39) missense probably benign 0.22
R4971:Nr3c1 UTSW 18 39,619,930 (GRCm39) missense probably damaging 1.00
R5106:Nr3c1 UTSW 18 39,619,654 (GRCm39) missense possibly damaging 0.80
R5732:Nr3c1 UTSW 18 39,548,752 (GRCm39) missense probably damaging 1.00
R5939:Nr3c1 UTSW 18 39,553,706 (GRCm39) missense probably benign 0.26
R5976:Nr3c1 UTSW 18 39,554,602 (GRCm39) missense probably damaging 1.00
R6666:Nr3c1 UTSW 18 39,620,200 (GRCm39) missense probably damaging 1.00
R7073:Nr3c1 UTSW 18 39,619,449 (GRCm39) missense probably benign 0.00
R7286:Nr3c1 UTSW 18 39,619,513 (GRCm39) small insertion probably benign
R7289:Nr3c1 UTSW 18 39,555,786 (GRCm39) missense probably benign 0.03
R7289:Nr3c1 UTSW 18 39,547,654 (GRCm39) missense probably benign 0.37
R7334:Nr3c1 UTSW 18 39,620,090 (GRCm39) missense probably benign 0.00
R8550:Nr3c1 UTSW 18 39,619,842 (GRCm39) missense possibly damaging 0.60
R8767:Nr3c1 UTSW 18 39,619,387 (GRCm39) missense probably damaging 0.99
X0019:Nr3c1 UTSW 18 39,620,195 (GRCm39) missense probably damaging 0.96
X0062:Nr3c1 UTSW 18 39,561,845 (GRCm39) splice site probably null
Predicted Primers
Posted On 2017-08-16