Mutagenetix > Incidental Mutation

Incidental Mutation 'R1691:Nr2c2'

191779

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

039724-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R1691 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92068426-92150039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92133673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 226 (T226K)

Ref Sequence

ENSEMBL: ENSMUSP00000138465 (fasta)

Gene Model

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

AlphaFold

P49117

Predicted Effect

probably damaging
Transcript: ENSMUST00000113460
AA Change: T226K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: T226K

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: T259K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: T259K

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 damaging
Transcript: ENSMUST00000146175
AA Change: T226K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: T226K

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

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,148,814 (GRCm39)	S283P	probably damaging	Het
Adck2	T	A	6: 39,551,902 (GRCm39)	L223*	probably null	Het
Ank	T	C	15: 27,591,030 (GRCm39)	W390R	probably damaging	Het
Ano5	T	C	7: 51,240,327 (GRCm39)	Y752H	probably damaging	Het
Apcs	T	A	1: 172,722,160 (GRCm39)	D62V	probably damaging	Het
Atad5	A	G	11: 79,986,358 (GRCm39)	T482A	probably benign	Het
Atp7b	A	G	8: 22,501,039 (GRCm39)	Y955H	possibly damaging	Het
Ccdc13	A	T	9: 121,654,134 (GRCm39)		probably null	Het
Ccdc157	G	A	11: 4,099,030 (GRCm39)	P159S	probably benign	Het
Cdhr3	C	T	12: 33,132,246 (GRCm39)	V126M	probably damaging	Het
Cdr1	T	C	X: 60,227,780 (GRCm39)	D462G	possibly damaging	Het
Cisd1	A	G	10: 71,180,559 (GRCm39)	V9A	probably benign	Het
Col19a1	T	C	1: 24,576,022 (GRCm39)	R107G	unknown	Het
Col1a2	C	A	6: 4,536,038 (GRCm39)	H972Q	unknown	Het
Col3a1	T	A	1: 45,387,776 (GRCm39)		probably benign	Het
Dbnl	A	G	11: 5,747,174 (GRCm39)	S235G	probably null	Het
Dock4	T	A	12: 40,775,754 (GRCm39)	S566T	probably benign	Het
Efcab6	T	C	15: 83,817,407 (GRCm39)	D722G	probably benign	Het
Esyt1	T	C	10: 128,361,403 (GRCm39)	Q97R	probably benign	Het
Fat2	G	A	11: 55,202,678 (GRCm39)	T132I	probably damaging	Het
Fgd2	C	T	17: 29,597,918 (GRCm39)	Q618*	probably null	Het
Flnc	T	A	6: 29,441,213 (GRCm39)	V389E	probably benign	Het
Garnl3	A	T	2: 32,887,675 (GRCm39)	Y778*	probably null	Het
Gpaa1	A	T	15: 76,216,416 (GRCm39)	Y45F	probably damaging	Het
Grid1	A	T	14: 35,174,286 (GRCm39)	I643F	probably damaging	Het
Gsdmc2	T	C	15: 63,705,314 (GRCm39)	D133G	probably damaging	Het
Hp	T	C	8: 110,302,204 (GRCm39)	D248G	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifna13	T	C	4: 88,562,291 (GRCm39)	D111G	probably benign	Het
Il9r	T	A	11: 32,141,829 (GRCm39)	Q309L	possibly damaging	Het
Insyn2a	C	T	7: 134,520,015 (GRCm39)	A172T	probably damaging	Het
Ints1	A	T	5: 139,754,687 (GRCm39)	D617E	probably damaging	Het
Kcnj12	A	T	11: 60,961,103 (GRCm39)	N467I	possibly damaging	Het
Kmt2e	T	A	5: 23,669,847 (GRCm39)	D111E	probably damaging	Het
Lama4	A	G	10: 38,956,559 (GRCm39)	K1161E	probably benign	Het
Lamc1	C	T	1: 153,122,995 (GRCm39)	D732N	probably benign	Het
Larp1	A	G	11: 57,938,874 (GRCm39)	T517A	probably benign	Het
Lrp12	A	G	15: 39,735,661 (GRCm39)	I757T	probably damaging	Het
Max	T	C	12: 77,000,046 (GRCm39)	D23G	possibly damaging	Het
Nars1	A	T	18: 64,649,485 (GRCm39)		probably null	Het
Nipsnap3a	G	A	4: 52,994,185 (GRCm39)	D91N	probably null	Het
Nphp3	A	G	9: 103,880,010 (GRCm39)	T11A	probably benign	Het
Nrxn1	A	G	17: 90,469,717 (GRCm39)	I1288T	probably damaging	Het
Nt5c1b	C	T	12: 10,425,537 (GRCm39)	T360I	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or10a3b	A	G	7: 108,444,348 (GRCm39)	Y290H	possibly damaging	Het
Or13a21	A	T	7: 139,998,855 (GRCm39)	L277Q	probably damaging	Het
Or4e1	A	T	14: 52,701,288 (GRCm39)	H59Q	possibly damaging	Het
Or4k37	G	A	2: 111,159,198 (GRCm39)	V145I	probably benign	Het
Or6d14	A	G	6: 116,533,538 (GRCm39)	T51A	probably benign	Het
Or9i1b	C	T	19: 13,896,783 (GRCm39)	T133I	probably benign	Het
Pcsk1	A	G	13: 75,280,344 (GRCm39)	D723G	possibly damaging	Het
Phrf1	C	A	7: 140,841,787 (GRCm39)	Y715*	probably null	Het
Pigm	T	C	1: 172,204,354 (GRCm39)	V30A	probably benign	Het
Pkd1l2	A	T	8: 117,783,158 (GRCm39)	F721I	possibly damaging	Het
Pla2g15	A	G	8: 106,881,581 (GRCm39)	D70G	possibly damaging	Het
Prl7d1	A	T	13: 27,893,365 (GRCm39)	I182N	probably damaging	Het
Prss23	T	C	7: 89,159,922 (GRCm39)	K49R	probably benign	Het
Rps6	A	T	4: 86,775,046 (GRCm39)	D19E	probably benign	Het
Slco6d1	A	T	1: 98,435,292 (GRCm39)	H669L	probably benign	Het
Svil	G	T	18: 5,056,336 (GRCm39)	C490F	probably benign	Het
Tom1	T	C	8: 75,778,227 (GRCm39)	I103T	probably damaging	Het
Trim10	T	A	17: 37,187,791 (GRCm39)	Y336N	probably damaging	Het
Trim43c	G	T	9: 88,722,752 (GRCm39)	V133F	probably damaging	Het
Tvp23a	A	G	16: 10,246,551 (GRCm39)	L78P	possibly damaging	Het
Ugt2b38	T	A	5: 87,571,991 (GRCm39)	I14L	probably benign	Het
Unc5a	A	C	13: 55,150,737 (GRCm39)	M520L	probably damaging	Het
Vmn1r174	T	A	7: 23,453,337 (GRCm39)	M1K	probably null	Het
Vmn2r58	C	T	7: 41,486,913 (GRCm39)	G661R	possibly damaging	Het
Vps41	A	C	13: 19,025,413 (GRCm39)	D471A	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp462	T	A	4: 55,013,489 (GRCm39)	F1818L	possibly damaging	Het
Zp3	G	A	5: 136,009,135 (GRCm39)	E50K	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
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
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'- AAGCATCACCTGCCATCTTGAGCC -3'
(R):5'- TGTCCTGAAGTGACTCTCAGCAACC -3'

Sequencing Primer
(F):5'- CTTTGCATTGATTGGAAAGCCC -3'
(R):5'- GTGACTCTCAGCAACCTTAAGTG -3'

Posted On

2014-05-14