Incidental Mutation 'IGL02244:Nr3c1'
ID 286121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr3c1
Ensembl Gene ENSMUSG00000024431
Gene Name nuclear receptor subfamily 3, group C, member 1
Synonyms glucocorticoid receptor, Grl1, Grl-1, GR
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02244
Quality Score
Status
Chromosome 18
Chromosomal Location 39543598-39652474 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 39554610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025300] [ENSMUST00000097592] [ENSMUST00000115567] [ENSMUST00000115571] [ENSMUST00000152853]
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: 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
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly 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
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
R6091:Nr3c1 UTSW 18 39,620,011 (GRCm39) small deletion probably benign
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
Posted On 2015-04-16