Mutagenetix > Incidental Mutation

Incidental Mutation 'R7286:Nr3c1'

566062

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

045394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7286 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

39543598-39652474 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

ACGTC to ACGTCGTC at 39619513 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] [ENSMUST00000150483] [ENSMUST00000152853]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025300

SMART Domains

Protein: ENSMUSP00000025300
Gene: ENSMUSG00000024431

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

SMART Domains

Protein: ENSMUSP00000095199
Gene: ENSMUSG00000024431

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

SMART Domains

Protein: ENSMUSP00000111229
Gene: ENSMUSG00000024431

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

SMART Domains

Protein: ENSMUSP00000111233
Gene: ENSMUSG00000024431

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

SMART Domains

Protein: ENSMUSP00000120082
Gene: ENSMUSG00000024431

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,334,317 (GRCm39)	M187L	possibly damaging	Het
9930012K11Rik	T	C	14: 70,394,686 (GRCm39)	E156G	possibly damaging	Het
Acad9	C	T	3: 36,130,139 (GRCm39)	A194V	probably damaging	Het
Agps	T	A	2: 75,683,128 (GRCm39)	V151E	probably benign	Het
Ak9	A	T	10: 41,283,367 (GRCm39)	I1273L		Het
Akr1c19	T	A	13: 4,296,818 (GRCm39)	L288Q	probably damaging	Het
Carmil1	T	G	13: 24,197,377 (GRCm39)	D1353A	probably damaging	Het
Ccz1	T	A	5: 143,949,897 (GRCm39)	I43F	probably damaging	Het
Cep70	G	A	9: 99,157,638 (GRCm39)	C179Y	probably damaging	Het
Comt	A	T	16: 18,229,440 (GRCm39)	L196H	probably damaging	Het
Cspg5	A	T	9: 110,076,023 (GRCm39)	D253V	probably damaging	Het
Dars2	A	G	1: 160,874,378 (GRCm39)	V437A	possibly damaging	Het
Dcaf5	A	G	12: 80,395,164 (GRCm39)	I335T	probably damaging	Het
Ddn	T	C	15: 98,703,906 (GRCm39)	K462R	possibly damaging	Het
Dscaml1	T	C	9: 45,654,044 (GRCm39)		probably null	Het
Eef1ece2	T	C	16: 20,451,341 (GRCm39)	S325P	probably benign	Het
Ethe1	A	G	7: 24,307,377 (GRCm39)	Y197C	probably damaging	Het
Evc	A	T	5: 37,479,527 (GRCm39)	L269*	probably null	Het
Fam161a	T	C	11: 22,970,001 (GRCm39)	S60P	possibly damaging	Het
Fam20b	A	G	1: 156,509,012 (GRCm39)	V400A	probably benign	Het
Fam53b	T	A	7: 132,361,390 (GRCm39)	S213C	possibly damaging	Het
Flot2	A	G	11: 77,945,612 (GRCm39)	I45V	probably benign	Het
Gemin4	A	C	11: 76,103,579 (GRCm39)	L394R	probably damaging	Het
Glis2	T	G	16: 4,429,182 (GRCm39)	S128R	possibly damaging	Het
Gm3696	A	G	14: 18,435,009 (GRCm39)	Y92H	probably damaging	Het
Gpbp1l1	T	C	4: 116,447,442 (GRCm39)	V374A	probably benign	Het
Grm1	T	C	10: 10,565,440 (GRCm39)	N956S	probably benign	Het
Hbb-bh1	T	C	7: 103,492,238 (GRCm39)	E27G	probably damaging	Het
Hmcn1	A	T	1: 150,458,088 (GRCm39)	C5233S	probably damaging	Het
Hmgcr	C	T	13: 96,803,105 (GRCm39)	C30Y	probably damaging	Het
Hoxb6	A	G	11: 96,183,651 (GRCm39)		probably benign	Het
Igf2	T	C	7: 142,209,555 (GRCm39)	Q35R	possibly damaging	Het
Ighv1-4	C	T	12: 114,450,941 (GRCm39)	V56I	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lmtk2	C	T	5: 144,111,178 (GRCm39)	Q633*	probably null	Het
Mesd	T	C	7: 83,544,957 (GRCm39)	Y136H	probably damaging	Het
Mga	T	A	2: 119,795,269 (GRCm39)	S2984R	possibly damaging	Het
Mkrn3	T	C	7: 62,068,675 (GRCm39)	N372S	probably benign	Het
Mtpap	A	G	18: 4,387,068 (GRCm39)	I373V	probably benign	Het
Mycbp2	G	A	14: 103,358,027 (GRCm39)	T4589M	probably damaging	Het
Myh2	A	G	11: 67,079,195 (GRCm39)	Q921R	probably benign	Het
Myom1	A	G	17: 71,352,544 (GRCm39)	D324G	possibly damaging	Het
Nat10	T	C	2: 103,584,514 (GRCm39)	K88E	probably benign	Het
Ncapd3	A	G	9: 26,981,254 (GRCm39)	R915G	probably damaging	Het
Nek4	T	C	14: 30,679,249 (GRCm39)	Y190H	probably damaging	Het
Nfasc	A	C	1: 132,529,790 (GRCm39)	Y797D	probably damaging	Het
Ngp	A	G	9: 110,249,978 (GRCm39)	D92G	probably benign	Het
Nos2	A	C	11: 78,820,680 (GRCm39)	H95P	probably damaging	Het
Or10ag59	C	T	2: 87,405,863 (GRCm39)	T145I	probably benign	Het
Or5bw2	C	A	7: 6,573,715 (GRCm39)	H242N	probably damaging	Het
Or5p73	T	C	7: 108,064,642 (GRCm39)	I37T	possibly damaging	Het
Or5t18	A	T	2: 86,636,967 (GRCm39)	H125Q	possibly damaging	Het
Otogl	T	A	10: 107,606,471 (GRCm39)	D2154V	probably benign	Het
Pdss1	T	A	2: 22,825,653 (GRCm39)		probably null	Het
Pex5	A	T	6: 124,375,022 (GRCm39)	L609*	probably null	Het
Pglyrp4	C	A	3: 90,640,281 (GRCm39)	A177D	probably damaging	Het
Phactr4	A	G	4: 132,104,489 (GRCm39)		probably null	Het
Phf8-ps	T	C	17: 33,284,501 (GRCm39)	D767G	probably benign	Het
Pik3cd	G	C	4: 149,744,171 (GRCm39)	N193K	probably benign	Het
Prr36	TACCTCTTC	T	8: 4,265,163 (GRCm39)		probably benign	Het
Prss38	A	T	11: 59,266,384 (GRCm39)	W25R	probably benign	Het
Prss8	T	A	7: 127,526,056 (GRCm39)	Q189L	probably damaging	Het
Psd	T	A	19: 46,303,240 (GRCm39)	D713V	probably damaging	Het
Rad51ap2	C	T	12: 11,507,692 (GRCm39)	T538I	probably benign	Het
Rarres1	T	C	3: 67,422,517 (GRCm39)	T78A	probably benign	Het
Rbl2	G	T	8: 91,828,922 (GRCm39)	G651*	probably null	Het
Rev3l	A	T	10: 39,699,601 (GRCm39)	Q1366L	probably damaging	Het
Rundc1	T	C	11: 101,320,413 (GRCm39)	S215P	probably benign	Het
Sanbr	A	T	11: 23,572,479 (GRCm39)	C130S	probably benign	Het
Scarf2	G	A	16: 17,620,837 (GRCm39)	W168*	probably null	Het
Sh2d7	A	G	9: 54,448,186 (GRCm39)	D69G	possibly damaging	Het
Slc26a4	A	T	12: 31,579,527 (GRCm39)	Y578*	probably null	Het
Slc2a9	A	T	5: 38,610,538 (GRCm39)	L87Q	probably damaging	Het
Slc39a10	A	T	1: 46,849,230 (GRCm39)	H795Q	probably damaging	Het
Spata13	C	T	14: 60,993,871 (GRCm39)	R1108W	probably damaging	Het
Sqle	T	C	15: 59,187,901 (GRCm39)	S70P	probably benign	Het
Syncrip	A	T	9: 88,346,716 (GRCm39)	F263I	probably damaging	Het
Synj2	T	C	17: 6,088,220 (GRCm39)	S1424P	possibly damaging	Het
Tax1bp3	A	T	11: 73,071,941 (GRCm39)	T89S	possibly damaging	Het
Tcaim	G	A	9: 122,648,092 (GRCm39)		probably null	Het
Tcp10c	T	C	17: 13,582,438 (GRCm39)	I240T	possibly damaging	Het
Ttll8	G	T	15: 88,801,442 (GRCm39)	N415K	probably benign	Het
Tut7	T	C	13: 59,969,463 (GRCm39)	E144G	probably benign	Het
Ugcg	T	C	4: 59,217,111 (GRCm39)	S212P	possibly damaging	Het
Vmn2r32	T	C	7: 7,482,807 (GRCm39)	K56E	probably benign	Het
Vmn2r55	T	C	7: 12,386,000 (GRCm39)	E660G	probably damaging	Het
Vmn2r7	T	C	3: 64,598,301 (GRCm39)	N752S	probably benign	Het
Vps54	T	A	11: 21,225,005 (GRCm39)	M167K	probably benign	Het
Vwa2	A	C	19: 56,897,791 (GRCm39)	M699L	probably benign	Het
Wdr59	A	G	8: 112,192,494 (GRCm39)	V689A		Het
Whamm	T	G	7: 81,235,995 (GRCm39)	N399K	probably damaging	Het
Zfp760	A	G	17: 21,941,760 (GRCm39)	K312E	probably benign	Het
Zkscan3	C	A	13: 21,578,983 (GRCm39)	V171L	probably benign	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
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
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'- ATAAACCGGGCCCAGTTTCTC -3'
(R):5'- CTCTGATCCATCTTCAGAACAGC -3'

Sequencing Primer
(F):5'- TCTTGCTTAATTACCCCAGGG -3'
(R):5'- GTGGCAGTGTGAAATTGTATACCAC -3'

Posted On

2019-06-26