Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03236:Nr3c1'

414061

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 #

IGL03236

Quality Score

Status

Chromosome

Chromosomal Location

39543598-39652474 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39619444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 281 (I281T)

Ref Sequence

ENSEMBL: ENSMUSP00000120082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025300] [ENSMUST00000097592] [ENSMUST00000115567] [ENSMUST00000115571] [ENSMUST00000124115] [ENSMUST00000131885] [ENSMUST00000150483] [ENSMUST00000152853]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025300
AA Change: I281T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025300
Gene: ENSMUSG00000024431
AA Change: I281T

Domain	Start	End	E-Value	Type
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: I281T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095199
Gene: ENSMUSG00000024431
AA Change: I281T

Domain	Start	End	E-Value	Type
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: I281T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111229
Gene: ENSMUSG00000024431
AA Change: I281T

Domain	Start	End	E-Value	Type
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: I281T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111233
Gene: ENSMUSG00000024431
AA Change: I281T

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:GCR	27	130	1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131885

Predicted Effect

probably benign
Transcript: ENSMUST00000150483

Predicted Effect

probably benign
Transcript: ENSMUST00000152853
AA Change: I281T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000120082
Gene: ENSMUSG00000024431
AA Change: I281T

Domain	Start	End	E-Value	Type
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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	G	4: 144,246,486 (GRCm39)	T11A	probably benign	Het
Abca17	A	G	17: 24,545,450 (GRCm39)		probably benign	Het
Aox1	G	T	1: 58,349,156 (GRCm39)	E641*	probably null	Het
Arhgef10l	G	T	4: 140,338,671 (GRCm39)	D30E	probably damaging	Het
Arhgef37	A	T	18: 61,656,897 (GRCm39)	I56N	probably damaging	Het
Cwf19l1	T	C	19: 44,115,887 (GRCm39)	I181V	probably benign	Het
Dnai2	A	G	11: 114,648,075 (GRCm39)		probably benign	Het
Elp2	A	G	18: 24,755,300 (GRCm39)		probably benign	Het
Epb41l4a	G	A	18: 33,943,272 (GRCm39)	S541L	probably damaging	Het
Ibsp	A	C	5: 104,453,871 (GRCm39)	N70H	probably benign	Het
Ikzf1	A	G	11: 11,657,848 (GRCm39)	E35G	probably damaging	Het
Kdm5a	T	C	6: 120,415,949 (GRCm39)	V1623A	probably damaging	Het
Kpna7	A	T	5: 144,922,504 (GRCm39)	V499E	unknown	Het
Krtap4-16	C	A	11: 99,741,962 (GRCm39)	R146L	unknown	Het
Map2k5	T	A	9: 63,193,674 (GRCm39)		probably benign	Het
Mfn2	A	G	4: 147,966,562 (GRCm39)	F543S	probably damaging	Het
Mical3	A	G	6: 120,946,345 (GRCm39)	L1052P	probably benign	Het
Mycbp2	T	C	14: 103,536,134 (GRCm39)	N272S	probably damaging	Het
Ndel1	A	G	11: 68,732,976 (GRCm39)	Y87H	probably benign	Het
Ndnf	G	A	6: 65,673,156 (GRCm39)	V45M	possibly damaging	Het
Ntm	A	G	9: 29,020,802 (GRCm39)	V139A	probably benign	Het
Or5ac23	A	C	16: 59,149,200 (GRCm39)	V224G	probably damaging	Het
Pkhd1l1	T	G	15: 44,445,222 (GRCm39)	V3698G	probably damaging	Het
Plcb1	A	G	2: 135,188,226 (GRCm39)	Y773C	probably damaging	Het
Prkaca	T	A	8: 84,717,074 (GRCm39)	F138Y	probably damaging	Het
Qser1	T	C	2: 104,616,877 (GRCm39)	T1312A	probably benign	Het
Slc47a2	T	C	11: 61,204,505 (GRCm39)	E282G	probably damaging	Het
Smchd1	G	A	17: 71,698,425 (GRCm39)	T1117I	possibly damaging	Het
Utp6	A	G	11: 79,851,567 (GRCm39)		probably benign	Het
Vmn1r66	T	A	7: 10,008,990 (GRCm39)	K14N	probably damaging	Het
Vmn1r71	A	T	7: 10,482,211 (GRCm39)	V93E	probably benign	Het
Zfp768	G	A	7: 126,943,142 (GRCm39)	L329F	possibly damaging	Het

Other mutations in Nr3c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02