Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:Nr2c1'

38231

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

038606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93983885-94033073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94007020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 286 (V286E)

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: V286E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897
AA Change: V286E

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: V286E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897
AA Change: V286E

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: V286E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897
AA Change: V286E

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,776,067 (GRCm39)	H1752L	possibly damaging	Het
Abcc5	T	C	16: 20,195,308 (GRCm39)	K730E	probably benign	Het
Ahnak	A	G	19: 8,992,480 (GRCm39)	D4588G	probably benign	Het
AI467606	G	A	7: 126,691,608 (GRCm39)	R61H	probably damaging	Het
Apoa4	T	A	9: 46,154,356 (GRCm39)	V319E	probably damaging	Het
Ark2n	C	A	18: 77,761,658 (GRCm39)	S218I	probably damaging	Het
Atad5	T	A	11: 80,011,525 (GRCm39)	D1297E	probably benign	Het
BC005624	G	A	2: 30,870,021 (GRCm39)	T62I	probably benign	Het
Bcl6	T	C	16: 23,791,344 (GRCm39)	K337E	probably damaging	Het
Cad	T	A	5: 31,231,330 (GRCm39)		probably benign	Het
Ccdc73	T	C	2: 104,821,634 (GRCm39)	S528P	probably benign	Het
Ccng2	T	G	5: 93,421,272 (GRCm39)	C261G	possibly damaging	Het
Cdh11	A	T	8: 103,400,638 (GRCm39)	I110N	probably damaging	Het
Cgnl1	A	G	9: 71,612,521 (GRCm39)	V767A	probably damaging	Het
Cit	A	G	5: 116,123,538 (GRCm39)	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,158,259 (GRCm39)	Q42*	probably null	Het
Clip1	A	G	5: 123,791,852 (GRCm39)	V106A	probably damaging	Het
Crb1	T	C	1: 139,126,529 (GRCm39)		probably benign	Het
Cts6	T	C	13: 61,346,153 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,852,630 (GRCm39)	E244G	probably damaging	Het
Dcaf8l	C	A	X: 88,448,815 (GRCm39)	R438L	probably benign	Het
Ddx55	A	T	5: 124,706,014 (GRCm39)	I480F	probably damaging	Het
Dixdc1	A	G	9: 50,604,974 (GRCm39)	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,117 (GRCm39)	Y1235*	probably null	Het
Dsg2	G	T	18: 20,725,565 (GRCm39)		probably benign	Het
E2f5	T	C	3: 14,644,085 (GRCm39)		probably null	Het
Epc2	A	G	2: 49,418,986 (GRCm39)	T265A	probably damaging	Het
Etaa1	T	G	11: 17,897,514 (GRCm39)	D201A	probably damaging	Het
Fancd2	T	C	6: 113,525,304 (GRCm39)	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,351,931 (GRCm39)	A1098V	probably benign	Het
Gpd2	G	A	2: 57,230,105 (GRCm39)	V286I	possibly damaging	Het
Gpr141b	A	T	13: 19,913,664 (GRCm39)		noncoding transcript	Het
H2-T9	C	T	17: 36,439,597 (GRCm39)	V128M	probably damaging	Het
Herc2	A	C	7: 55,807,480 (GRCm39)	E2523A	probably damaging	Het
Irag1	G	A	7: 110,476,104 (GRCm39)	P757S	probably benign	Het
Jmjd1c	G	A	10: 67,056,161 (GRCm39)	R527H	probably damaging	Het
Kif12	G	A	4: 63,087,762 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,309,492 (GRCm39)	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,454,296 (GRCm39)	G235R	probably benign	Het
Mapk8	T	C	14: 33,104,165 (GRCm39)	E417G	probably benign	Het
Mapk8ip3	G	A	17: 25,128,145 (GRCm39)		probably benign	Het
Mettl1	A	G	10: 126,880,946 (GRCm39)	T203A	probably benign	Het
Mettl9	T	C	7: 120,675,536 (GRCm39)	V312A	probably damaging	Het
Mex3d	A	G	10: 80,222,728 (GRCm39)	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790 (GRCm39)	S225P	probably damaging	Het
Neb	G	A	2: 52,078,689 (GRCm39)		probably benign	Het
Ninj2	C	T	6: 120,175,012 (GRCm39)	A51V	possibly damaging	Het
Nle1	A	G	11: 82,796,205 (GRCm39)		probably benign	Het
Nol9	T	C	4: 152,137,062 (GRCm39)	Y532H	probably benign	Het
Or4b1b	A	T	2: 90,112,748 (GRCm39)	M57K	probably damaging	Het
Or4c31	T	G	2: 88,292,269 (GRCm39)	L195R	probably damaging	Het
Or52e18	T	A	7: 104,609,150 (GRCm39)	H263L	probably damaging	Het
Or5p4	T	A	7: 107,680,079 (GRCm39)	I26N	possibly damaging	Het
Or6c69	A	G	10: 129,747,785 (GRCm39)	Y121H	probably benign	Het
Or6f1	T	C	7: 85,970,500 (GRCm39)	Y220C	probably benign	Het
Or9k7	A	G	10: 130,046,489 (GRCm39)	L170P	probably damaging	Het
Ovch2	A	T	7: 107,400,343 (GRCm39)	V15D	probably damaging	Het
Pate8	G	T	9: 36,493,924 (GRCm39)	A3E	unknown	Het
Pclo	T	G	5: 14,731,748 (GRCm39)	S3417A	unknown	Het
Pex1	T	A	5: 3,683,759 (GRCm39)	M1085K	probably damaging	Het
Plscr2	T	C	9: 92,164,188 (GRCm39)	S6P	probably benign	Het
Pogz	C	T	3: 94,784,336 (GRCm39)	P722S	possibly damaging	Het
Pom121l2	A	T	13: 22,166,395 (GRCm39)	D222V	probably benign	Het
Prpf40a	T	C	2: 53,049,325 (GRCm39)	Y179C	probably damaging	Het
R3hdm2	A	G	10: 127,294,042 (GRCm39)	I179V	possibly damaging	Het
Ranbp9	A	C	13: 43,576,134 (GRCm39)	V355G	probably damaging	Het
Rims2	T	C	15: 39,373,028 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,720,570 (GRCm39)	S2693T	probably benign	Het
Sbno1	G	A	5: 124,548,348 (GRCm39)	T111I	probably damaging	Het
Sdk1	A	C	5: 142,031,916 (GRCm39)	N997T	possibly damaging	Het
Setx	G	T	2: 29,056,301 (GRCm39)	E39*	probably null	Het
Skint7	T	A	4: 111,837,559 (GRCm39)	N112K	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc4a10	A	T	2: 62,021,192 (GRCm39)	D80V	probably benign	Het
Susd2	C	A	10: 75,474,437 (GRCm39)		probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcf3	G	T	10: 80,256,992 (GRCm39)	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,733,672 (GRCm39)	Y116H	probably benign	Het
Tex26	C	A	5: 149,384,323 (GRCm39)	D164E	probably benign	Het
Thoc5	G	A	11: 4,852,213 (GRCm39)		probably benign	Het
Tiparp	A	G	3: 65,438,857 (GRCm39)	R58G	probably benign	Het
Trim66	A	T	7: 109,074,471 (GRCm39)	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,484,349 (GRCm39)	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,955,696 (GRCm39)	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,499,281 (GRCm39)	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,284,407 (GRCm39)	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,570,519 (GRCm39)	K346E	probably benign	Het
Zfhx4	T	A	3: 5,466,221 (GRCm39)	S2126R	possibly damaging	Het
Zfp608	C	T	18: 55,032,066 (GRCm39)	G625R	probably benign	Het
Zkscan5	A	G	5: 145,149,385 (GRCm39)	D234G	probably damaging	Het
Zscan10	T	A	17: 23,824,889 (GRCm39)	V115E	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
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
R7707:Nr2c1	UTSW	10	94,024,027 (GRCm39)	missense	probably benign	0.00
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'- AAGCATATCTGTCCCACCTTGCAAAT -3'
(R):5'- GGGCTCGTGAAACTCAGAATGGAAT -3'

Sequencing Primer
(F):5'- GTCCCACCTTGCAAATTTTTAGTG -3'
(R):5'- GCCATGTTGTACTAACAGCAG -3'

Posted On

2013-05-23