Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Nr2c2'

169439

Institutional Source

Beutler Lab

Gene Symbol

Nr2c2

Ensembl Gene

ENSMUSG00000005893

Gene Name

nuclear receptor subfamily 2, group C, member 2

Synonyms

TAK1, Tr4

MMRRC Submission

039553-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.514) question?

Stock #

R1503 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

92091390-92174294 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92105331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 9 (V9D)

Ref Sequence

ENSEMBL: ENSMUSP00000109090 (fasta)

Gene Model

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

AlphaFold

P49117

Predicted Effect

probably benign
Transcript: ENSMUST00000113460

SMART Domains

Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893

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: V9D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: V9D

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 57,338,562 (GRCm38)	M5V	probably benign	Het
Atf7ip	G	T	6: 136,606,867 (GRCm38)	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,373,424 (GRCm38)	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430 (GRCm38)	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,889,510 (GRCm38)	D269N	possibly damaging	Het
Btd	T	G	14: 31,667,655 (GRCm38)	C444W	probably damaging	Het
Cacna1a	A	G	8: 84,601,946 (GRCm38)	D1624G	probably benign	Het
Carmil3	A	C	14: 55,498,280 (GRCm38)	N563T	probably damaging	Het
Cars	T	C	7: 143,568,989 (GRCm38)	R538G	probably benign	Het
Catsperd	A	G	17: 56,654,525 (GRCm38)	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,695,239 (GRCm38)	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,999,478 (GRCm38)	N66S	probably benign	Het
Cd48	T	A	1: 171,695,847 (GRCm38)	L86H	probably damaging	Het
Cdan1	A	T	2: 120,729,575 (GRCm38)	H369Q	probably damaging	Het
Chil4	T	C	3: 106,206,034 (GRCm38)	D189G	probably benign	Het
Cit	T	A	5: 115,873,900 (GRCm38)	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,464,565 (GRCm38)	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,775,799 (GRCm38)	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,605,179 (GRCm38)		probably null	Het
Dmxl2	A	T	9: 54,446,988 (GRCm38)	Y391*	probably null	Het
Dnah12	T	C	14: 26,773,692 (GRCm38)	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,693,660 (GRCm38)	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,073 (GRCm38)	C484S	probably benign	Het
Dsg4	A	T	18: 20,449,679 (GRCm38)	I125F	probably damaging	Het
Egfr	T	A	11: 16,869,301 (GRCm38)	M277K	possibly damaging	Het
Eml5	G	T	12: 98,831,174 (GRCm38)	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,346,546 (GRCm38)	H295N	probably benign	Het
Etl4	T	G	2: 20,743,874 (GRCm38)	V139G	possibly damaging	Het
Fam160a1	T	A	3: 85,672,477 (GRCm38)	Y807F	possibly damaging	Het
Frem3	A	T	8: 80,687,018 (GRCm38)	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,606,337 (GRCm38)	D357V	probably damaging	Het
Gimap8	T	A	6: 48,647,529 (GRCm38)		probably null	Het
Gml2	C	A	15: 74,821,352 (GRCm38)	S68*	probably null	Het
Gphn	A	G	12: 78,504,629 (GRCm38)	I248V	possibly damaging	Het
Greb1	A	T	12: 16,724,819 (GRCm38)	Y192*	probably null	Het
Hmbs	A	C	9: 44,337,432 (GRCm38)	L215W	probably benign	Het
Iglon5	T	A	7: 43,479,025 (GRCm38)	T123S	probably benign	Het
Ints2	C	T	11: 86,226,781 (GRCm38)	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842 (GRCm38)	L212Q	probably damaging	Het
Itgad	A	G	7: 128,198,121 (GRCm38)	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,396,492 (GRCm38)	T51A	probably damaging	Het
Kif1bp	A	G	10: 62,559,408 (GRCm38)	V485A	probably damaging	Het
Kif9	A	T	9: 110,510,438 (GRCm38)	K449N	possibly damaging	Het
Klk11	G	A	7: 43,778,909 (GRCm38)	W241*	probably null	Het
Krt32	T	C	11: 100,084,110 (GRCm38)		probably null	Het
Loxl1	A	G	9: 58,293,640 (GRCm38)	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 24,904,923 (GRCm38)	S571T	probably damaging	Het
Mcam	C	T	9: 44,141,291 (GRCm38)	R606C	probably damaging	Het
Mtss1	T	C	15: 58,951,672 (GRCm38)	N282S	probably damaging	Het
Myh13	T	A	11: 67,353,674 (GRCm38)	D1012E	probably benign	Het
Myo16	A	G	8: 10,502,817 (GRCm38)	T952A	probably benign	Het
Neb	T	C	2: 52,298,620 (GRCm38)	D874G	probably damaging	Het
Nek11	A	G	9: 105,163,204 (GRCm38)	Y553H	probably damaging	Het
Nxf1	T	A	19: 8,762,436 (GRCm38)	F51L	probably benign	Het
Olfr1260	T	C	2: 89,978,528 (GRCm38)	V250A	probably damaging	Het
Olfr1347	T	C	7: 6,488,179 (GRCm38)	I232V	probably damaging	Het
Olfr1350	A	G	7: 6,570,471 (GRCm38)	N160S	probably damaging	Het
Olfr170	A	G	16: 19,606,312 (GRCm38)	S119P	probably benign	Het
Olfr344	A	T	2: 36,568,873 (GRCm38)	I92F	probably damaging	Het
Olfr397	T	G	11: 73,964,568 (GRCm38)		probably null	Het
Olfr750	A	G	14: 51,070,734 (GRCm38)	S220P	probably damaging	Het
Pcdhb8	A	T	18: 37,356,519 (GRCm38)	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,399,804 (GRCm38)	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,694,399 (GRCm38)	H434Q	probably benign	Het
Prpf19	T	A	19: 10,901,022 (GRCm38)	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,471,826 (GRCm38)	E319*	probably null	Het
Sel1l3	A	G	5: 53,137,929 (GRCm38)	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,870,289 (GRCm38)	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,911 (GRCm38)	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,928,376 (GRCm38)	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,740,992 (GRCm38)	I304N	probably damaging	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Sox17	C	A	1: 4,491,928 (GRCm38)	G222C	probably damaging	Het
Trmu	T	A	15: 85,895,019 (GRCm38)	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,837,877 (GRCm38)	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,247,400 (GRCm38)	D885E	probably benign	Het
Zfp646	A	G	7: 127,880,136 (GRCm38)	N495S	probably damaging	Het
Zfp663	T	C	2: 165,352,653 (GRCm38)	T549A	probably damaging	Het
Zfp935	G	A	13: 62,455,137 (GRCm38)	A83V	possibly damaging	Het

Other mutations in Nr2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Nr2c2	APN	6	92,149,719 (GRCm38)	missense	probably damaging	1.00
IGL01129:Nr2c2	APN	6	92,158,416 (GRCm38)	missense	probably benign	0.08
IGL01578:Nr2c2	APN	6	92,162,038 (GRCm38)	missense	probably benign	0.01
IGL02281:Nr2c2	APN	6	92,154,514 (GRCm38)	missense	probably benign	0.20
R1385:Nr2c2	UTSW	6	92,154,470 (GRCm38)	missense	probably damaging	1.00
R1397:Nr2c2	UTSW	6	92,149,764 (GRCm38)	missense	probably benign	0.34
R1691:Nr2c2	UTSW	6	92,156,692 (GRCm38)	missense	probably damaging	0.99
R1779:Nr2c2	UTSW	6	92,159,243 (GRCm38)	missense	possibly damaging	0.50
R2655:Nr2c2	UTSW	6	92,163,138 (GRCm38)	missense	probably damaging	0.99
R3840:Nr2c2	UTSW	6	92,163,138 (GRCm38)	missense	probably damaging	0.99
R3841:Nr2c2	UTSW	6	92,163,138 (GRCm38)	missense	probably damaging	0.99
R3923:Nr2c2	UTSW	6	92,160,401 (GRCm38)	missense	probably damaging	0.98
R3926:Nr2c2	UTSW	6	92,160,401 (GRCm38)	missense	probably damaging	0.98
R3945:Nr2c2	UTSW	6	92,163,138 (GRCm38)	missense	probably damaging	0.99
R3946:Nr2c2	UTSW	6	92,163,138 (GRCm38)	missense	probably damaging	0.99
R4721:Nr2c2	UTSW	6	92,139,847 (GRCm38)	missense	possibly damaging	0.49
R5038:Nr2c2	UTSW	6	92,139,822 (GRCm38)	missense	probably damaging	1.00
R5101:Nr2c2	UTSW	6	92,154,516 (GRCm38)	critical splice donor site	probably null
R5524:Nr2c2	UTSW	6	92,139,765 (GRCm38)	splice site	probably null
R6884:Nr2c2	UTSW	6	92,158,393 (GRCm38)	missense	probably benign	0.05
R7046:Nr2c2	UTSW	6	92,158,357 (GRCm38)	missense	probably damaging	1.00
R7278:Nr2c2	UTSW	6	92,159,378 (GRCm38)	missense	probably damaging	0.96
R7316:Nr2c2	UTSW	6	92,154,463 (GRCm38)	missense	probably damaging	0.99
R9238:Nr2c2	UTSW	6	92,167,549 (GRCm38)	missense	probably damaging	1.00
R9497:Nr2c2	UTSW	6	92,156,692 (GRCm38)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGACGGTTTTCTCAGATAGCCACCA -3'
(R):5'- AGTGTCAGCATCCTGCTTTGGATTT -3'

Sequencing Primer
(F):5'- GTGTACTGTGACTAAGAGCTATCC -3'
(R):5'- TGAATCATGTGCTGACTTCTTTG -3'

Posted On

2014-04-13