Mutagenetix > Incidental Mutation

Incidental Mutation 'R1779:Nr2c2'

197337

Institutional Source

Beutler Lab

Gene Symbol

Nr2c2

Ensembl Gene

ENSMUSG00000005893

Gene Name

nuclear receptor subfamily 2, group C, member 2

Synonyms

Tr4, TAK1

MMRRC Submission

039810-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R1779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92068426-92150039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92136224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 355 (T355A)

Ref Sequence

ENSEMBL: ENSMUSP00000109090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113460] [ENSMUST00000113463] [ENSMUST00000146175]

AlphaFold

P49117

Predicted Effect

probably benign
Transcript: ENSMUST00000113460
AA Change: T322A

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: T322A

Domain	Start	End	E-Value	Type
ZnF_C4	114	185	4.33e-40	SMART
Blast:HOLI	238	324	4e-46	BLAST
HOLI	388	554	1.9e-36	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113463
AA Change: T355A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: T355A

Domain	Start	End	E-Value	Type
ZnF_C4	147	218	4.33e-40	SMART
Blast:HOLI	271	357	6e-46	BLAST
HOLI	421	587	1.9e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133321

Predicted Effect

probably benign
Transcript: ENSMUST00000146175
AA Change: T322A

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: T322A

Domain	Start	End	E-Value	Type
ZnF_C4	114	185	4.33e-40	SMART
Blast:HOLI	238	324	7e-47	BLAST
Pfam:Hormone_recep	367	493	8.8e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204497

Meta Mutation Damage Score

0.0799

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (101/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous null mice display reduced body size, reduced male fertility, and impaired spermatogenesis. Mice homozygous for a conditional allele activated in the CNS exhibit increased thermal, mechanical and chemical nociception threshold, decreased pruritus and neuronal loss in the spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,200,163 (GRCm39)	L476F	probably damaging	Het
4930432E11Rik	A	T	7: 29,278,591 (GRCm39)		noncoding transcript	Het
A930011G23Rik	A	T	5: 99,370,897 (GRCm39)		probably benign	Het
Abcd3	A	G	3: 121,575,612 (GRCm39)	Y217H	probably damaging	Het
Abraxas1	A	T	5: 100,965,822 (GRCm39)		probably benign	Het
Acsbg1	T	C	9: 54,523,346 (GRCm39)	Y427C	probably damaging	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam10	T	A	9: 70,683,651 (GRCm39)		probably benign	Het
Adam24	G	A	8: 41,134,004 (GRCm39)	V491I	possibly damaging	Het
Adamts2	T	G	11: 50,647,524 (GRCm39)	V299G	probably damaging	Het
Adh7	A	G	3: 137,929,752 (GRCm39)	T143A	probably damaging	Het
Ahcyl1	A	G	3: 107,581,419 (GRCm39)	S81P	probably benign	Het
Arhgap20	C	A	9: 51,761,215 (GRCm39)	T986K	probably benign	Het
Atp13a5	A	T	16: 29,133,478 (GRCm39)	I391N	possibly damaging	Het
Atp6v0a1	C	A	11: 100,917,511 (GRCm39)	A143E	probably benign	Het
Calcrl	A	G	2: 84,181,629 (GRCm39)	I173T	probably damaging	Het
Casz1	A	G	4: 149,017,394 (GRCm39)	T228A	probably benign	Het
Cckar	A	G	5: 53,857,321 (GRCm39)	I292T	probably damaging	Het
Ccn5	G	A	2: 163,670,906 (GRCm39)	V138M	probably damaging	Het
Cfhr2	T	A	1: 139,786,383 (GRCm39)		probably null	Het
Chkb	T	C	15: 89,313,260 (GRCm39)	I109V	possibly damaging	Het
Clec2i	T	C	6: 128,865,069 (GRCm39)		probably null	Het
Clec4a4	T	A	6: 123,000,934 (GRCm39)	W216R	probably damaging	Het
Cntnap1	A	C	11: 101,077,337 (GRCm39)	I1000L	probably damaging	Het
Cp	C	A	3: 20,011,549 (GRCm39)	D34E	possibly damaging	Het
Cse1l	T	C	2: 166,782,044 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,394,357 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,616,382 (GRCm39)	V1193A	probably benign	Het
Eaf2	A	G	16: 36,630,832 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,611,765 (GRCm39)	S536T	probably benign	Het
Ephb2	T	C	4: 136,421,136 (GRCm39)	T405A	possibly damaging	Het
Fam117a	G	A	11: 95,269,779 (GRCm39)	V348M	probably damaging	Het
Fh1	T	C	1: 175,428,990 (GRCm39)	*167W	probably null	Het
Fmo9	T	A	1: 166,490,868 (GRCm39)	I486F	probably benign	Het
Gabbr1	T	A	17: 37,365,771 (GRCm39)	I150N	probably damaging	Het
Gfpt1	T	C	6: 87,054,179 (GRCm39)	V478A	possibly damaging	Het
Gm2663	A	T	6: 40,974,894 (GRCm39)	V59E	probably damaging	Het
Gm4868	T	A	5: 125,925,176 (GRCm39)		noncoding transcript	Het
Heatr4	T	A	12: 84,026,934 (GRCm39)	T108S	probably benign	Het
Hells	G	T	19: 38,935,286 (GRCm39)	A319S	probably benign	Het
Helz2	A	G	2: 180,876,780 (GRCm39)	V1238A	probably benign	Het
Helz2	T	A	2: 180,880,252 (GRCm39)	Q488L	possibly damaging	Het
Hkdc1	A	G	10: 62,227,162 (GRCm39)	F765S	probably damaging	Het
Hspg2	T	A	4: 137,245,820 (GRCm39)	W938R	probably damaging	Het
Itpr2	G	A	6: 146,060,399 (GRCm39)	R2473*	probably null	Het
Kctd1	C	T	18: 15,194,839 (GRCm39)	V595I	probably benign	Het
Krt7	A	G	15: 101,321,290 (GRCm39)	Y369C	probably damaging	Het
Krt72	T	C	15: 101,689,364 (GRCm39)	T323A	probably benign	Het
Krt76	A	G	15: 101,801,122 (GRCm39)	L58P	unknown	Het
Liph	C	A	16: 21,786,800 (GRCm39)	R272L	probably benign	Het
Lrrc9	A	T	12: 72,502,772 (GRCm39)	K248*	probably null	Het
Mei4	T	A	9: 81,809,195 (GRCm39)	S93T	probably damaging	Het
Mgll	T	A	6: 88,790,930 (GRCm39)	Y183*	probably null	Het
Myo5b	A	G	18: 74,875,218 (GRCm39)	M1541V	probably benign	Het
Napg	A	G	18: 63,115,762 (GRCm39)	E66G	probably benign	Het
Npr3	T	C	15: 11,851,572 (GRCm39)	D406G	probably damaging	Het
Or13j1	G	A	4: 43,706,041 (GRCm39)	H176Y	probably damaging	Het
Or4a71	A	T	2: 89,357,989 (GRCm39)	I255K	probably benign	Het
Or51m1	G	T	7: 103,578,668 (GRCm39)	V213L	probably benign	Het
Or51v8	A	G	7: 103,319,845 (GRCm39)	I131T	probably benign	Het
Or52z13	A	T	7: 103,247,107 (GRCm39)	I195F	probably damaging	Het
Or5b107	T	C	19: 13,142,404 (GRCm39)	Y9H	probably benign	Het
Or8d1	A	G	9: 38,766,846 (GRCm39)	M163V	possibly damaging	Het
Orai2	T	C	5: 136,179,793 (GRCm39)	E80G	probably damaging	Het
Pcdhb14	T	A	18: 37,582,535 (GRCm39)	V547E	probably damaging	Het
Pcdhb15	T	C	18: 37,609,084 (GRCm39)	I772T	possibly damaging	Het
Pcnt	T	C	10: 76,244,630 (GRCm39)	Q1150R	probably damaging	Het
Pdcd6	A	G	13: 74,453,700 (GRCm39)	I146T	probably damaging	Het
Phldb2	T	A	16: 45,621,988 (GRCm39)	D664V	probably damaging	Het
Pik3ap1	A	T	19: 41,320,673 (GRCm39)	V182E	probably damaging	Het
Pip4k2a	A	G	2: 18,852,433 (GRCm39)	V283A	probably benign	Het
Pkdrej	A	G	15: 85,705,372 (GRCm39)	V188A	possibly damaging	Het
Pnpla6	T	C	8: 3,591,404 (GRCm39)	W1151R	probably damaging	Het
Ppp1r14c	A	G	10: 3,316,890 (GRCm39)	Y75C	probably damaging	Het
Prl2b1	C	T	13: 27,567,452 (GRCm39)	D224N	probably benign	Het
Ptgis	A	G	2: 167,056,778 (GRCm39)	S270P	probably benign	Het
Rgs11	C	A	17: 26,429,640 (GRCm39)	A446D	probably damaging	Het
Rims2	A	G	15: 39,545,098 (GRCm39)	T1531A	probably damaging	Het
Sbno1	A	T	5: 124,526,580 (GRCm39)		probably benign	Het
Scarb2	C	G	5: 92,596,416 (GRCm39)	M409I	probably benign	Het
Scube3	C	T	17: 28,387,353 (GRCm39)		probably benign	Het
Slc44a4	T	C	17: 35,140,901 (GRCm39)	I180T	probably damaging	Het
Slc9a2	T	C	1: 40,781,803 (GRCm39)	M344T	probably damaging	Het
Smc3	A	T	19: 53,627,800 (GRCm39)	T860S	probably benign	Het
Snrpa	A	G	7: 26,891,174 (GRCm39)	I99T	probably benign	Het
Sorcs1	A	G	19: 50,163,481 (GRCm39)		probably benign	Het
Sorl1	C	T	9: 41,902,778 (GRCm39)		probably null	Het
Suds3	T	C	5: 117,243,309 (GRCm39)	K143R	probably benign	Het
Supt20	A	T	3: 54,622,164 (GRCm39)	M424L	probably benign	Het
Tgtp2	T	C	11: 48,949,751 (GRCm39)	M274V	probably benign	Het
Tmem158	T	A	9: 123,088,974 (GRCm39)	M213L	probably benign	Het
Tnks	C	A	8: 35,324,672 (GRCm39)	R639L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt10c	A	C	16: 55,854,938 (GRCm39)	N232K	possibly damaging	Het
Trpm6	C	T	19: 18,833,581 (GRCm39)	R1587W	probably damaging	Het
Trrap	G	A	5: 144,765,400 (GRCm39)	V2539I	probably benign	Het
Tsg101	A	G	7: 46,556,835 (GRCm39)	S115P	probably benign	Het
Ttll13	G	T	7: 79,910,256 (GRCm39)	V800L	probably benign	Het
Vmn1r57	A	G	7: 5,223,576 (GRCm39)	T34A	possibly damaging	Het
Vmn2r118	T	A	17: 55,918,530 (GRCm39)	T121S	probably benign	Het
Wdr35	A	G	12: 9,035,772 (GRCm39)	I238M	possibly damaging	Het
Zfp81	T	A	17: 33,554,080 (GRCm39)	T245S	probably benign	Het
Zfyve26	G	T	12: 79,325,237 (GRCm39)	P824Q	probably damaging	Het

Other mutations in Nr2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Nr2c2	APN	6	92,126,700 (GRCm39)	missense	probably damaging	1.00
IGL01129:Nr2c2	APN	6	92,135,397 (GRCm39)	missense	probably benign	0.08
IGL01578:Nr2c2	APN	6	92,139,019 (GRCm39)	missense	probably benign	0.01
IGL02281:Nr2c2	APN	6	92,131,495 (GRCm39)	missense	probably benign	0.20
R1385:Nr2c2	UTSW	6	92,131,451 (GRCm39)	missense	probably damaging	1.00
R1397:Nr2c2	UTSW	6	92,126,745 (GRCm39)	missense	probably benign	0.34
R1503:Nr2c2	UTSW	6	92,082,312 (GRCm39)	missense	probably benign
R1691:Nr2c2	UTSW	6	92,133,673 (GRCm39)	missense	probably damaging	0.99
R2655:Nr2c2	UTSW	6	92,140,119 (GRCm39)	missense	probably damaging	0.99
R3840:Nr2c2	UTSW	6	92,140,119 (GRCm39)	missense	probably damaging	0.99
R3841:Nr2c2	UTSW	6	92,140,119 (GRCm39)	missense	probably damaging	0.99
R3923:Nr2c2	UTSW	6	92,137,382 (GRCm39)	missense	probably damaging	0.98
R3926:Nr2c2	UTSW	6	92,137,382 (GRCm39)	missense	probably damaging	0.98
R3945:Nr2c2	UTSW	6	92,140,119 (GRCm39)	missense	probably damaging	0.99
R3946:Nr2c2	UTSW	6	92,140,119 (GRCm39)	missense	probably damaging	0.99
R4721:Nr2c2	UTSW	6	92,116,828 (GRCm39)	missense	possibly damaging	0.49
R5038:Nr2c2	UTSW	6	92,116,803 (GRCm39)	missense	probably damaging	1.00
R5101:Nr2c2	UTSW	6	92,131,497 (GRCm39)	critical splice donor site	probably null
R5524:Nr2c2	UTSW	6	92,116,746 (GRCm39)	splice site	probably null
R6884:Nr2c2	UTSW	6	92,135,374 (GRCm39)	missense	probably benign	0.05
R7046:Nr2c2	UTSW	6	92,135,338 (GRCm39)	missense	probably damaging	1.00
R7278:Nr2c2	UTSW	6	92,136,359 (GRCm39)	missense	probably damaging	0.96
R7316:Nr2c2	UTSW	6	92,131,444 (GRCm39)	missense	probably damaging	0.99
R9238:Nr2c2	UTSW	6	92,144,530 (GRCm39)	missense	probably damaging	1.00
R9497:Nr2c2	UTSW	6	92,133,673 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- ATGGGGACTTACTGGGAGCTACAC -3'
(R):5'- GTGATGTGCCACACTTATTGGAGGG -3'

Sequencing Primer
(F):5'- TTACTGGGAGCTACACAGTCC -3'
(R):5'- TGTATAGGTAAAGCACCTGGCTC -3'

Posted On

2014-05-23