Mutagenetix > Incidental Mutation

Incidental Mutation 'R7707:Nr2c1'

594357

Institutional Source

Beutler Lab

Gene Symbol

Nr2c1

Ensembl Gene

ENSMUSG00000005897

Gene Name

nuclear receptor subfamily 2, group C, member 1

Synonyms

TR2, 4831444H07Rik, Eenr, Tr2-11

MMRRC Submission

067893-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93983885-94033073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94024027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 411 (S411T)

Ref Sequence

ENSEMBL: ENSMUSP00000100927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092213] [ENSMUST00000099343] [ENSMUST00000105290]

AlphaFold

Q505F1

Predicted Effect

probably benign
Transcript: ENSMUST00000092213
AA Change: S411T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897
AA Change: S411T

Domain	Start	End	E-Value	Type
ZnF_C4	98	169	3.18e-38	SMART
HOLI	382	548	4.94e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099343
AA Change: S411T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897
AA Change: S411T

Domain	Start	End	E-Value	Type
ZnF_C4	98	169	3.18e-38	SMART
HOLI	382	548	4.94e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105290
AA Change: S411T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897
AA Change: S411T

Domain	Start	End	E-Value	Type
ZnF_C4	98	169	3.18e-38	SMART
HOLI	382	548	4.94e-35	SMART

Meta Mutation Damage Score

0.1005

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any defects in testis development or in spermatogenesis; no gross defects were detected in the central nervous system and normal motor neuron cell numbers were noted. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,285,852 (GRCm39)	M1L	probably benign	Het
Ap1s3	T	C	1: 79,591,964 (GRCm39)	K129E	probably benign	Het
Ap3b2	C	T	7: 81,126,530 (GRCm39)	V357I	possibly damaging	Het
Aplp1	A	T	7: 30,142,523 (GRCm39)	C140S	probably damaging	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Asb4	A	G	6: 5,430,968 (GRCm39)	H401R	probably benign	Het
Bpi	A	T	2: 158,103,093 (GRCm39)	E79D	probably benign	Het
Cant1	C	T	11: 118,301,724 (GRCm39)	V198M	possibly damaging	Het
Casp9	C	T	4: 141,532,778 (GRCm39)	R225C	probably benign	Het
Ccdc88b	C	A	19: 6,834,837 (GRCm39)	R82L	probably benign	Het
Cfap251	A	T	5: 123,391,950 (GRCm39)	E28V	probably benign	Het
Chrm4	A	G	2: 91,757,699 (GRCm39)	T36A	probably benign	Het
Cntln	A	T	4: 84,802,853 (GRCm39)	D51V	probably damaging	Het
Commd8	A	T	5: 72,320,081 (GRCm39)	F120Y	probably damaging	Het
Cpne6	A	C	14: 55,753,771 (GRCm39)	T410P	probably damaging	Het
Ctnnb1	A	T	9: 120,781,931 (GRCm39)	I315F	possibly damaging	Het
Dnah9	A	G	11: 66,009,784 (GRCm39)	V701A	probably damaging	Het
Efcab9	A	G	11: 32,472,851 (GRCm39)	Y199H	possibly damaging	Het
Endou	T	A	15: 97,610,983 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,583,560 (GRCm39)	V412A	probably benign	Het
Foxc2	C	T	8: 121,844,641 (GRCm39)	P430S	probably benign	Het
Gas2l3	T	A	10: 89,250,220 (GRCm39)	K299N	probably damaging	Het
Gm10375	G	A	14: 43,842,332 (GRCm39)	Q133*	probably null	Het
Gorab	T	C	1: 163,220,009 (GRCm39)	D211G	probably damaging	Het
Grin3b	T	A	10: 79,811,735 (GRCm39)	S747T	possibly damaging	Het
Gucd1	C	A	10: 75,347,120 (GRCm39)		probably benign	Het
Gucy2d	T	C	7: 98,100,876 (GRCm39)	F400L	possibly damaging	Het
Hivep3	G	A	4: 119,591,156 (GRCm39)	V55M		Het
Igsf3	A	G	3: 101,367,238 (GRCm39)	N1157S	probably benign	Het
Irak3	A	T	10: 119,982,489 (GRCm39)	D324E	probably damaging	Het
Jup	G	T	11: 100,273,878 (GRCm39)	A221D	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr4	A	G	2: 109,827,936 (GRCm39)		probably null	Het
Lrrc34	T	C	3: 30,679,041 (GRCm39)	D352G	probably benign	Het
Metrn	C	A	17: 26,014,384 (GRCm39)	A175S	probably benign	Het
Or4c11	A	G	2: 88,695,153 (GRCm39)	D68G	possibly damaging	Het
Or5h22	T	A	16: 58,894,634 (GRCm39)	I270F	possibly damaging	Het
Orc3	T	A	4: 34,598,691 (GRCm39)	K172*	probably null	Het
Oxnad1	A	G	14: 31,823,965 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,877,672 (GRCm39)	N409S	probably damaging	Het
Pcdha11	A	T	18: 37,144,845 (GRCm39)	N312I	probably benign	Het
Pds5a	G	T	5: 65,767,476 (GRCm39)	P121Q	unknown	Het
Phc1	A	G	6: 122,300,739 (GRCm39)	I380T	unknown	Het
Phldb3	C	A	7: 24,326,022 (GRCm39)	H535N	possibly damaging	Het
Proser3	T	C	7: 30,239,216 (GRCm39)	Q600R	probably benign	Het
Ptprz1	A	G	6: 23,002,295 (GRCm39)	M1462V	probably benign	Het
Pyroxd2	T	C	19: 42,726,586 (GRCm39)	T243A	probably damaging	Het
Ralgapa1	C	A	12: 55,824,077 (GRCm39)	D268Y	probably null	Het
Rapgef5	A	C	12: 117,679,079 (GRCm39)	Y419S	probably damaging	Het
Rbm24	C	A	13: 46,582,605 (GRCm39)	Q175K	possibly damaging	Het
Robo4	A	T	9: 37,324,418 (GRCm39)	D982V	probably damaging	Het
Sbf2	T	C	7: 109,929,920 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,604,043 (GRCm39)		probably null	Het
Shank1	C	T	7: 43,993,725 (GRCm39)	S798F	unknown	Het
Slc15a5	A	T	6: 138,056,745 (GRCm39)	M57K	probably damaging	Het
Slc35g1	T	A	19: 38,391,571 (GRCm39)	C284*	probably null	Het
Src	G	A	2: 157,306,578 (GRCm39)	D194N	probably damaging	Het
Srfbp1	A	G	18: 52,616,726 (GRCm39)	T84A	probably damaging	Het
Sspo	A	T	6: 48,438,461 (GRCm39)	T1510S	probably benign	Het
Taar1	A	T	10: 23,797,135 (GRCm39)	I278F	possibly damaging	Het
Taf1a	T	C	1: 183,185,583 (GRCm39)	Y281H	possibly damaging	Het
Thbs3	A	T	3: 89,132,207 (GRCm39)	Y798F	possibly damaging	Het
Tnpo1	T	C	13: 99,027,295 (GRCm39)	T7A	probably benign	Het
Traf7	A	T	17: 24,729,683 (GRCm39)		probably null	Het
Trbv19	G	A	6: 41,155,547 (GRCm39)	V9I	possibly damaging	Het
Trim17	C	T	11: 58,856,110 (GRCm39)	Q56*	probably null	Het
Ttn	G	T	2: 76,732,406 (GRCm39)	A4643E	unknown	Het
Ugt2b36	A	G	5: 87,229,367 (GRCm39)		probably null	Het
Uso1	A	G	5: 92,349,795 (GRCm39)	*960W	probably null	Het
Usp2	G	T	9: 43,984,757 (GRCm39)		probably null	Het
Wdr20rt	A	G	12: 65,272,981 (GRCm39)	D148G	probably damaging	Het
Wif1	T	C	10: 120,919,864 (GRCm39)	F204L	probably damaging	Het
Wwp1	T	C	4: 19,627,645 (GRCm39)	D750G	probably benign	Het
Zfp1006	A	T	8: 129,945,660 (GRCm39)	C388*	probably null	Het
Zmynd12	A	T	4: 119,302,063 (GRCm39)	D234V	probably damaging	Het

Other mutations in Nr2c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01418:Nr2c1	APN	10	94,026,552 (GRCm39)	missense	probably damaging	0.97
IGL02739:Nr2c1	APN	10	93,992,834 (GRCm39)	missense	probably damaging	0.99
chillax	UTSW	10	93,999,648 (GRCm39)	missense	probably benign	0.38
R0077:Nr2c1	UTSW	10	94,024,117 (GRCm39)	missense	probably benign	0.01
R0349:Nr2c1	UTSW	10	94,031,044 (GRCm39)	missense	probably damaging	1.00
R0401:Nr2c1	UTSW	10	94,007,020 (GRCm39)	missense	probably benign	0.02
R0418:Nr2c1	UTSW	10	94,017,374 (GRCm39)	missense	probably benign	0.00
R0662:Nr2c1	UTSW	10	94,026,600 (GRCm39)	missense	probably damaging	1.00
R1665:Nr2c1	UTSW	10	94,024,045 (GRCm39)	missense	probably damaging	1.00
R1802:Nr2c1	UTSW	10	93,999,648 (GRCm39)	missense	possibly damaging	0.95
R4812:Nr2c1	UTSW	10	94,024,114 (GRCm39)	missense	probably benign	0.00
R5549:Nr2c1	UTSW	10	94,003,558 (GRCm39)	missense	probably benign
R5928:Nr2c1	UTSW	10	94,024,055 (GRCm39)	missense	probably damaging	1.00
R6219:Nr2c1	UTSW	10	93,999,648 (GRCm39)	missense	probably benign	0.38
R6430:Nr2c1	UTSW	10	94,031,203 (GRCm39)	missense	possibly damaging	0.77
R6431:Nr2c1	UTSW	10	94,024,078 (GRCm39)	missense	probably damaging	1.00
R6745:Nr2c1	UTSW	10	94,026,526 (GRCm39)	missense	probably damaging	1.00
R6844:Nr2c1	UTSW	10	94,007,029 (GRCm39)	nonsense	probably null
R7848:Nr2c1	UTSW	10	94,026,508 (GRCm39)	missense	probably benign
R8257:Nr2c1	UTSW	10	94,028,769 (GRCm39)	missense	probably damaging	1.00
R8405:Nr2c1	UTSW	10	94,031,155 (GRCm39)	missense	probably benign	0.05
R8757:Nr2c1	UTSW	10	94,031,119 (GRCm39)	missense	probably damaging	1.00
R9165:Nr2c1	UTSW	10	94,017,465 (GRCm39)	missense	probably benign	0.34
R9546:Nr2c1	UTSW	10	94,026,528 (GRCm39)	missense	possibly damaging	0.71
R9630:Nr2c1	UTSW	10	93,998,285 (GRCm39)	missense	probably benign	0.01
R9667:Nr2c1	UTSW	10	94,017,479 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCAGCTTCCTAGGTGCTC -3'
(R):5'- GGCCATAGCTCCTTGTATATCC -3'

Sequencing Primer
(F):5'- GGTGCTCTTCTGTCAACTGTACAAAG -3'
(R):5'- ATAGCTCCTTGTATATCCATGAAAAC -3'

Posted On

2019-11-12