Mutagenetix > Incidental Mutation

Incidental Mutation 'R7046:Nr2c2'

547312

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

045144-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R7046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92068426-92150039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92135338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 309 (T309A)

Ref Sequence

ENSEMBL: ENSMUSP00000109090 (fasta)

Gene Model

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

AlphaFold

P49117

Predicted Effect

probably damaging
Transcript: ENSMUST00000113460
AA Change: T276A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: T276A

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

probably damaging
Transcript: ENSMUST00000113463
AA Change: T309A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: T309A

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

probably damaging
Transcript: ENSMUST00000146175
AA Change: T276A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: T276A

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

Meta Mutation Damage Score

0.1377

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,772,364 (GRCm39)	Y805C	probably damaging	Het
Aoc1l3	T	A	6: 48,964,512 (GRCm39)	D173E	probably benign	Het
Cabp7	T	A	11: 4,688,886 (GRCm39)	I195F	probably damaging	Het
Camsap1	T	C	2: 25,835,201 (GRCm39)	N317S	probably damaging	Het
Ccdc127	T	G	13: 74,500,994 (GRCm39)	L4V	probably damaging	Het
Ccdc7a	T	C	8: 129,774,100 (GRCm39)	E145G	probably damaging	Het
Cdh10	T	A	15: 19,013,287 (GRCm39)	V629D	probably damaging	Het
Cdh23	A	C	10: 60,214,530 (GRCm39)	L1497R	probably damaging	Het
Chsy3	A	G	18: 59,542,875 (GRCm39)	K671R	probably benign	Het
Clca4b	T	C	3: 144,621,367 (GRCm39)	Y569C	probably damaging	Het
Cnga1	T	C	5: 72,786,696 (GRCm39)		probably benign	Het
Cyp51	T	A	5: 4,150,188 (GRCm39)	E178D	probably damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah14	G	T	1: 181,450,568 (GRCm39)	C727F	probably benign	Het
Egf	A	T	3: 129,548,607 (GRCm39)	W3R	unknown	Het
Egfem1	G	A	3: 29,136,364 (GRCm39)		probably null	Het
Epb41l1	G	T	2: 156,368,812 (GRCm39)	V682L	possibly damaging	Het
Etv1	A	G	12: 38,834,369 (GRCm39)		probably null	Het
Faap100	A	G	11: 120,268,200 (GRCm39)	F191S	possibly damaging	Het
Fmo1	T	A	1: 162,667,263 (GRCm39)	D184V	possibly damaging	Het
Ghrl	A	G	6: 113,696,344 (GRCm39)	L16P	probably damaging	Het
Gria4	T	A	9: 4,420,278 (GRCm39)	L861F	probably damaging	Het
Gsr	T	A	8: 34,185,090 (GRCm39)	M428K	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kbtbd12	A	G	6: 88,595,497 (GRCm39)	M111T	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,623 (GRCm39)	Y6*	probably null	Het
Lin9	A	G	1: 180,494,935 (GRCm39)	D219G	probably damaging	Het
Lrrc38	A	G	4: 143,076,739 (GRCm39)	M1V	probably null	Het
Macc1	T	G	12: 119,410,773 (GRCm39)	F514V	probably benign	Het
Madcam1	C	T	10: 79,504,139 (GRCm39)	R242C	probably benign	Het
Mfhas1	T	C	8: 36,131,944 (GRCm39)	S1037P	probably benign	Het
Micall2	C	T	5: 139,694,699 (GRCm39)		probably benign	Het
Mtr	C	A	13: 12,205,095 (GRCm39)	A1122S	possibly damaging	Het
Muc6	T	A	7: 141,226,456 (GRCm39)		probably benign	Het
Myh15	T	A	16: 48,929,662 (GRCm39)	C529*	probably null	Het
Napsa	T	C	7: 44,234,509 (GRCm39)	V247A	probably damaging	Het
Or1e26	A	T	11: 73,480,558 (GRCm39)	I2K	probably benign	Het
Or1q1	T	A	2: 36,887,173 (GRCm39)	V117E	probably benign	Het
Or2n1b	A	T	17: 38,459,691 (GRCm39)	M71L	probably benign	Het
Osgepl1	A	T	1: 53,360,710 (GRCm39)	I384F	possibly damaging	Het
Otud4	C	T	8: 80,377,671 (GRCm39)	L111F	possibly damaging	Het
Pds5b	A	G	5: 150,673,385 (GRCm39)	Y481C	probably damaging	Het
Pdzrn4	T	A	15: 92,668,303 (GRCm39)	Y818*	probably null	Het
Pin1rt1	T	C	2: 104,544,767 (GRCm39)	S122G	probably benign	Het
Pkdcc	A	T	17: 83,531,687 (GRCm39)	Y487F	probably damaging	Het
Plxna4	C	T	6: 32,493,440 (GRCm39)	C392Y	probably damaging	Het
Psd4	T	G	2: 24,284,985 (GRCm39)	M283R	probably benign	Het
Ralgds	G	T	2: 28,430,741 (GRCm39)	G68W	probably damaging	Het
Rmdn2	T	A	17: 79,928,808 (GRCm39)	I20N	probably damaging	Het
Sestd1	A	G	2: 77,022,910 (GRCm39)	V486A	probably benign	Het
Skic8	T	A	9: 54,626,539 (GRCm39)	D275V	probably damaging	Het
Spmap2	G	T	10: 79,422,796 (GRCm39)	D35E	probably benign	Het
Tango6	A	G	8: 107,533,748 (GRCm39)	H958R	possibly damaging	Het
Taok3	C	T	5: 117,411,771 (GRCm39)	R857C	probably damaging	Het
Tasor	A	T	14: 27,194,392 (GRCm39)	L1197F	probably damaging	Het
Trio	T	C	15: 27,832,137 (GRCm39)	E1245G	probably damaging	Het
Usp19	C	T	9: 108,374,334 (GRCm39)	H763Y	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,651 (GRCm39)	S285P	probably damaging	Het
Vmn1r45	T	G	6: 89,910,538 (GRCm39)	Y144S	probably benign	Het
Vwa3b	G	A	1: 37,212,959 (GRCm39)	E152K	probably benign	Het
Xrcc5	G	A	1: 72,433,875 (GRCm39)	M731I	probably benign	Het
Zfp619	G	A	7: 39,186,787 (GRCm39)	S939N	possibly damaging	Het
Zfp874a	C	A	13: 67,590,418 (GRCm39)	C422F	probably damaging	Het
Zfp948	A	G	17: 21,808,719 (GRCm39)	D637G	possibly 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
R1779:Nr2c2	UTSW	6	92,136,224 (GRCm39)	missense	possibly damaging	0.50
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
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'- AAGATCTTCCTAGCATGACTCC -3'
(R):5'- GCAGAGGTCAATTTCCAGGAC -3'

Sequencing Primer
(F):5'- TCCATTCACACCTAGAAGCTGG -3'
(R):5'- TCTCACTTGCAGACTGGT -3'

Posted On

2019-05-13