Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02281:Nr2c2'

289839

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nr2c2

Ensembl Gene

ENSMUSG00000005893

Gene Name

nuclear receptor subfamily 2, group C, member 2

Synonyms

TAK1, Tr4

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

IGL02281

Quality Score

Status

Chromosome

Chromosomal Location

92091390-92174294 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92154514 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 186 (S186T)

Ref Sequence

ENSEMBL: ENSMUSP00000138465 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113460
AA Change: S186T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: S186T

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 benign
Transcript: ENSMUST00000113463
AA Change: S219T

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: S219T

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: S186T

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: S186T

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: ENSMUST00000204497

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 105,567,154	E60G	probably benign	Het
Aldh3a1	T	G	11: 61,217,123		probably null	Het
Bach2	T	C	4: 32,562,513	C327R	possibly damaging	Het
Bcam	C	T	7: 19,758,691	G523D	probably damaging	Het
Bmpr2	T	A	1: 59,868,344	D865E	probably damaging	Het
Calm1	A	T	12: 100,205,624	I112F	probably damaging	Het
Ceacam3	T	C	7: 17,161,731	V542A	probably benign	Het
Clec5a	A	T	6: 40,584,402	D36E	probably benign	Het
Clspn	T	A	4: 126,565,770	C321S	possibly damaging	Het
Cmtr1	T	A	17: 29,691,281	D453E	probably benign	Het
Cntnap1	T	A	11: 101,182,254	D561E	possibly damaging	Het
Cul5	A	G	9: 53,635,049	V137A	possibly damaging	Het
Cyp2b9	A	G	7: 26,201,104	Y389C	probably damaging	Het
Ddi2	A	G	4: 141,692,419	V340A	probably benign	Het
Etv4	T	C	11: 101,773,719	Y235C	probably damaging	Het
Gm3099	G	A	14: 4,001,257		probably benign	Het
Gpsm1	T	A	2: 26,339,626		probably benign	Het
Idh2	A	G	7: 80,095,802		probably null	Het
Kit	G	A	5: 75,654,534	E973K	possibly damaging	Het
Lilra5	A	G	7: 4,238,783	I194V	probably benign	Het
Lrp6	A	C	6: 134,457,734	N1335K	probably benign	Het
Map9	G	A	3: 82,391,146	E613K	possibly damaging	Het
Mroh2b	G	A	15: 4,952,263	A1519T	probably benign	Het
Nefm	A	G	14: 68,124,464	V117A	probably damaging	Het
Pde2a	G	A	7: 101,481,392	A80T	probably benign	Het
Plcd1	A	T	9: 119,074,773	C334S	probably benign	Het
Pomt1	T	C	2: 32,248,646	S425P	possibly damaging	Het
Pspc1	G	T	14: 56,723,178	P497T	probably benign	Het
Rnf123	G	A	9: 108,071,452	P58L	probably benign	Het
Rph3a	T	C	5: 120,948,833	T435A	probably damaging	Het
Rsbn1	T	C	3: 103,962,461	L746P	probably damaging	Het
Sfrp2	A	G	3: 83,773,139	E202G	possibly damaging	Het
Slc25a38	T	C	9: 120,117,532	S111P	probably damaging	Het
Tfcp2l1	T	C	1: 118,669,380		probably benign	Het
Tonsl	A	T	15: 76,634,074	L566H	probably damaging	Het
Tsc1	C	A	2: 28,663,595	D153E	probably damaging	Het
Vmn2r37	A	T	7: 9,217,882	H327Q	possibly damaging	Het

Other mutations in Nr2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Nr2c2	APN	6	92149719	missense	probably damaging	1.00
IGL01129:Nr2c2	APN	6	92158416	missense	probably benign	0.08
IGL01578:Nr2c2	APN	6	92162038	missense	probably benign	0.01
R1385:Nr2c2	UTSW	6	92154470	missense	probably damaging	1.00
R1397:Nr2c2	UTSW	6	92149764	missense	probably benign	0.34
R1503:Nr2c2	UTSW	6	92105331	missense	probably benign
R1691:Nr2c2	UTSW	6	92156692	missense	probably damaging	0.99
R1779:Nr2c2	UTSW	6	92159243	missense	possibly damaging	0.50
R2655:Nr2c2	UTSW	6	92163138	missense	probably damaging	0.99
R3840:Nr2c2	UTSW	6	92163138	missense	probably damaging	0.99
R3841:Nr2c2	UTSW	6	92163138	missense	probably damaging	0.99
R3923:Nr2c2	UTSW	6	92160401	missense	probably damaging	0.98
R3926:Nr2c2	UTSW	6	92160401	missense	probably damaging	0.98
R3945:Nr2c2	UTSW	6	92163138	missense	probably damaging	0.99
R3946:Nr2c2	UTSW	6	92163138	missense	probably damaging	0.99
R4721:Nr2c2	UTSW	6	92139847	missense	possibly damaging	0.49
R5038:Nr2c2	UTSW	6	92139822	missense	probably damaging	1.00
R5101:Nr2c2	UTSW	6	92154516	critical splice donor site	probably null
R5524:Nr2c2	UTSW	6	92139765	splice site	probably null
R6884:Nr2c2	UTSW	6	92158393	missense	probably benign	0.05
R7046:Nr2c2	UTSW	6	92158357	missense	probably damaging	1.00
R7278:Nr2c2	UTSW	6	92159378	missense	probably damaging	0.96
R7316:Nr2c2	UTSW	6	92154463	missense	probably damaging	0.99

Posted On

2015-04-16