Incidental Mutation 'R2251:Nr3c1'
ID 241713
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 040251-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2251 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 39543598-39652474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 39619804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 161 (T161K)
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: T161K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000025300
Gene: ENSMUSG00000024431
AA Change: T161K

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: T161K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095199
Gene: ENSMUSG00000024431
AA Change: T161K

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: T161K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000111229
Gene: ENSMUSG00000024431
AA Change: T161K

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: T161K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000111233
Gene: ENSMUSG00000024431
AA Change: T161K

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: T161K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120082
Gene: ENSMUSG00000024431
AA Change: T161K

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Abl1 T A 2: 31,669,131 (GRCm39) V170E probably damaging Het
Akap13 C T 7: 75,389,225 (GRCm39) T2381M possibly damaging Het
Armc8 T A 9: 99,384,653 (GRCm39) probably null Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Faap20 A C 4: 155,335,010 (GRCm39) E37A possibly damaging Het
Fam186a T C 15: 99,842,978 (GRCm39) T1089A probably benign Het
Fgb T G 3: 82,950,591 (GRCm39) T388P probably damaging Het
Fndc1 G A 17: 7,972,439 (GRCm39) R1498W probably damaging Het
Gch1 T C 14: 47,426,798 (GRCm39) probably benign Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
H2-M10.1 A C 17: 36,636,498 (GRCm39) L102R probably damaging Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
Mbtps2 A T X: 156,342,029 (GRCm39) F270L probably benign Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
N4bp2 G A 5: 65,964,071 (GRCm39) V707I probably damaging Het
Nav2 A G 7: 49,103,025 (GRCm39) K608E probably damaging Het
Nfix T C 8: 85,442,799 (GRCm39) D458G probably benign Het
Ngdn T C 14: 55,260,852 (GRCm39) probably null Het
Or2n1e C T 17: 38,585,794 (GRCm39) A44V probably benign Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or52e15 A T 7: 104,645,802 (GRCm39) M103K probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Pbld2 G T 10: 62,860,384 (GRCm39) probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Pwp2 T A 10: 78,016,922 (GRCm39) Q266L probably benign Het
Rnf133 T C 6: 23,649,174 (GRCm39) M252V probably benign Het
Scn8a A G 15: 100,914,987 (GRCm39) I1184V probably benign Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Smim11 T C 16: 92,107,716 (GRCm39) Y14H probably benign Het
Spata17 A T 1: 186,780,670 (GRCm39) L359Q possibly damaging Het
Spn T C 7: 126,736,331 (GRCm39) K59E probably benign Het
Tap2 A G 17: 34,430,928 (GRCm39) S343G probably damaging Het
Tcp11l2 T C 10: 84,440,933 (GRCm39) probably null Het
Tlr11 T A 14: 50,598,249 (GRCm39) N78K probably benign Het
Tm9sf2 T A 14: 122,377,143 (GRCm39) S224T probably benign Het
Trpm1 G A 7: 63,859,724 (GRCm39) G261D probably damaging Het
Tut4 T A 4: 108,377,405 (GRCm39) D938E probably damaging Het
Usp3 T C 9: 66,469,860 (GRCm39) D87G probably damaging Het
Vmn1r189 T C 13: 22,286,718 (GRCm39) K40E probably damaging Het
Vps45 A T 3: 95,964,352 (GRCm39) D56E probably benign Het
Vstm2a C A 11: 16,318,273 (GRCm39) Q231K probably benign Het
Zfp575 A T 7: 24,285,015 (GRCm39) C209S probably damaging Het
Zfp768 T C 7: 126,943,550 (GRCm39) T193A probably benign Het
Zfp867 T A 11: 59,356,319 (GRCm39) R38* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CCTCCAAGGACTCTCGTTTG -3'
(R):5'- AGCCGTTTCACTGTCCATGG -3'

Sequencing Primer
(F):5'- GGGACCCGGCAGAAAACTC -3'
(R):5'- TCCATGGGACTGTATATGGGAGAGAC -3'
Posted On 2014-10-16