Incidental Mutation 'IGL01527:Nr3c1'
ID 89609
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 # IGL01527
Quality Score
Status
Chromosome 18
Chromosomal Location 39543598-39652474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39619690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
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
AA Change: V199A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025300
Gene: ENSMUSG00000024431
AA Change: V199A

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
AA Change: V199A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095199
Gene: ENSMUSG00000024431
AA Change: V199A

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
AA Change: V199A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111229
Gene: ENSMUSG00000024431
AA Change: V199A

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
AA Change: V199A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111233
Gene: ENSMUSG00000024431
AA Change: V199A

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
AA Change: V199A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120082
Gene: ENSMUSG00000024431
AA Change: V199A

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,878,730 (GRCm39) probably null Het
Abca13 T A 11: 9,240,788 (GRCm39) W884R possibly damaging Het
Ahi1 T C 10: 20,835,984 (GRCm39) probably benign Het
Ankfn1 G T 11: 89,282,465 (GRCm39) P394Q probably benign Het
Cacnb2 T C 2: 14,989,081 (GRCm39) I393T possibly damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col22a1 T C 15: 71,778,880 (GRCm39) E269G probably damaging Het
Cyp24a1 A G 2: 170,338,486 (GRCm39) L70P probably damaging Het
Cyp8b1 T C 9: 121,744,061 (GRCm39) K424E probably damaging Het
Dicer1 G A 12: 104,657,869 (GRCm39) Q1902* probably null Het
Dst T A 1: 34,286,734 (GRCm39) L544Q probably damaging Het
Esrp2 T C 8: 106,858,865 (GRCm39) T591A probably benign Het
Gap43 C T 16: 42,112,516 (GRCm39) E82K probably benign Het
Ift70a1 T C 2: 75,810,860 (GRCm39) I408V probably benign Het
Kif17 G A 4: 137,996,397 (GRCm39) V125I probably benign Het
Lancl2 T C 6: 57,709,307 (GRCm39) S370P probably damaging Het
Macf1 T C 4: 123,386,953 (GRCm39) I203V possibly damaging Het
Mphosph9 A G 5: 124,421,687 (GRCm39) probably benign Het
Ncapg A G 5: 45,829,726 (GRCm39) I143V possibly damaging Het
Obscn T A 11: 58,955,243 (GRCm39) N3890I possibly damaging Het
Or2g7 A G 17: 38,378,986 (GRCm39) N308S probably benign Het
Or2h2c A T 17: 37,422,701 (GRCm39) Y58N probably damaging Het
Or52n5 T A 7: 104,588,198 (GRCm39) V155E possibly damaging Het
Or8g32 A G 9: 39,305,114 (GRCm39) H6R probably benign Het
Palmd C A 3: 116,720,837 (GRCm39) E166* probably null Het
Pdzd2 T C 15: 12,445,750 (GRCm39) E327G probably damaging Het
Pex13 T C 11: 23,606,111 (GRCm39) T40A probably benign Het
Pkd2 T C 5: 104,646,750 (GRCm39) probably benign Het
Plb1 A G 5: 32,474,467 (GRCm39) T643A probably damaging Het
Prlr T A 15: 10,329,257 (GRCm39) D577E probably benign Het
Rimoc1 T C 15: 4,018,165 (GRCm39) Y170C probably damaging Het
Slc44a3 A G 3: 121,320,777 (GRCm39) C75R probably damaging Het
Susd6 A T 12: 80,921,093 (GRCm39) N230I possibly damaging Het
Tbx10 A G 19: 4,048,227 (GRCm39) R251G probably damaging Het
Uap1l1 A G 2: 25,253,816 (GRCm39) probably null Het
Ugt2b5 A G 5: 87,284,068 (GRCm39) V308A possibly damaging Het
Usp28 C A 9: 48,937,173 (GRCm39) H147Q probably benign Het
Vmn1r203 T C 13: 22,708,447 (GRCm39) I76T possibly damaging Het
Vmn2r104 A G 17: 20,263,158 (GRCm39) I101T possibly damaging Het
Vmn2r17 T A 5: 109,601,006 (GRCm39) L768H 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
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
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 2013-12-03