Mutagenetix > Incidental Mutation

Incidental Mutation 'R5100:Ncoa5'

388205

Institutional Source

Beutler Lab

Gene Symbol

Ncoa5

Ensembl Gene

ENSMUSG00000039804

Gene Name

nuclear receptor coactivator 5

Synonyms

MMRRC Submission

042689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5100 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164842277-164876787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164851309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 188 (I188T)

Ref Sequence

ENSEMBL: ENSMUSP00000046388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040381] [ENSMUST00000121377] [ENSMUST00000122070] [ENSMUST00000153905]

AlphaFold

Q91W39

Predicted Effect

probably damaging
Transcript: ENSMUST00000040381
AA Change: I188T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046388
Gene: ENSMUSG00000039804
AA Change: I188T

Domain	Start	End	E-Value	Type
low complexity region	46	79	N/A	INTRINSIC
low complexity region	82	104	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
coiled coil region	163	190	N/A	INTRINSIC
SCOP:d1kmma1	195	287	2e-9	SMART
PDB:1V95\|A	197	314	3e-79	PDB
low complexity region	324	340	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	395	427	N/A	INTRINSIC
low complexity region	440	460	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121377

SMART Domains

Protein: ENSMUSP00000113872
Gene: ENSMUSG00000039804

Domain	Start	End	E-Value	Type
PDB:1V95\|A	1	34	2e-15	PDB
low complexity region	44	60	N/A	INTRINSIC
low complexity region	87	96	N/A	INTRINSIC
low complexity region	115	147	N/A	INTRINSIC
low complexity region	160	180	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122070
AA Change: I188T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113166
Gene: ENSMUSG00000039804
AA Change: I188T

Domain	Start	End	E-Value	Type
low complexity region	46	79	N/A	INTRINSIC
low complexity region	82	104	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
coiled coil region	163	190	N/A	INTRINSIC
SCOP:d1kmma1	195	287	1e-8	SMART
PDB:1V95\|A	197	314	2e-80	PDB
low complexity region	324	340	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127545

Predicted Effect

probably benign
Transcript: ENSMUST00000153905

SMART Domains

Protein: ENSMUSP00000116778
Gene: ENSMUSG00000039804

Domain	Start	End	E-Value	Type
low complexity region	46	68	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]
PHENOTYPE: Male mice heterozygous for a knock-out allele exhibit infertility, impaired glucose homeostasis, liver dysplasia and HCC. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,057,477 (GRCm39)	M774K	probably damaging	Het
Adamts3	G	A	5: 89,856,502 (GRCm39)	T357I	probably damaging	Het
Ap3m2	T	A	8: 23,279,404 (GRCm39)	M408L	probably benign	Het
Apaf1	A	T	10: 90,833,149 (GRCm39)	N1116K	probably benign	Het
Arhgap31	A	T	16: 38,421,821 (GRCm39)	I1415N	probably damaging	Het
Arhgef17	A	T	7: 100,530,963 (GRCm39)	D1374E	possibly damaging	Het
Asxl1	C	G	2: 153,239,851 (GRCm39)	N546K	probably damaging	Het
Cobll1	T	A	2: 64,956,245 (GRCm39)	T337S	probably benign	Het
Depdc1a	A	T	3: 159,221,157 (GRCm39)	I163L	probably benign	Het
Flrt3	T	A	2: 140,513,304 (GRCm39)		probably null	Het
Foxn4	A	T	5: 114,394,820 (GRCm39)	L369H	possibly damaging	Het
Gm11992	T	C	11: 9,011,290 (GRCm39)	S244P	probably damaging	Het
Gm14412	C	T	2: 177,006,908 (GRCm39)	C329Y	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm5113	G	A	7: 29,878,076 (GRCm39)	V55M	probably damaging	Het
Grhl3	A	G	4: 135,269,986 (GRCm39)	I599T	probably benign	Het
H2-Q6	G	C	17: 35,644,296 (GRCm39)	E93Q	probably benign	Het
Hk3	T	C	13: 55,156,843 (GRCm39)	T570A	probably damaging	Het
Hspb8	T	C	5: 116,553,468 (GRCm39)	I143M	probably damaging	Het
Kif15	A	G	9: 122,821,059 (GRCm39)	T655A	probably damaging	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Lrit1	T	A	14: 36,784,171 (GRCm39)	C500S	possibly damaging	Het
Macf1	A	C	4: 123,368,261 (GRCm39)	C602G	probably benign	Het
Mesd	C	T	7: 83,546,977 (GRCm39)	R147C	probably damaging	Het
Mfge8	A	T	7: 78,793,048 (GRCm39)	D139E	probably benign	Het
Ncoa3	G	A	2: 165,892,017 (GRCm39)	R131Q	probably damaging	Het
Ngp	T	C	9: 110,249,069 (GRCm39)	L47P	probably damaging	Het
Nhlrc1	T	C	13: 47,167,897 (GRCm39)	H120R	probably benign	Het
Otos	T	A	1: 92,572,107 (GRCm39)	H73L	probably damaging	Het
Pcsk5	C	T	19: 17,492,499 (GRCm39)		probably null	Het
Phc3	T	C	3: 30,976,348 (GRCm39)	E740G	possibly damaging	Het
Pla2g7	T	C	17: 43,922,267 (GRCm39)	L382P	probably damaging	Het
Plcd3	C	A	11: 102,969,175 (GRCm39)	R264L	probably benign	Het
Pms2	A	G	5: 143,865,006 (GRCm39)	D696G	probably damaging	Het
Ptchd4	A	T	17: 42,814,567 (GRCm39)	I823F	possibly damaging	Het
Scn9a	T	C	2: 66,364,463 (GRCm39)	R828G	probably damaging	Het
Spred2	T	A	11: 19,971,291 (GRCm39)	C386*	probably null	Het
Terb1	A	T	8: 105,221,805 (GRCm39)	L165*	probably null	Het
Tgm2	A	T	2: 157,969,084 (GRCm39)	S430R	probably benign	Het
Tnxb	A	T	17: 34,929,902 (GRCm39)	I2879F	probably damaging	Het
Trpm3	T	G	19: 22,896,130 (GRCm39)	V977G	probably damaging	Het
Wnt5b	A	C	6: 119,417,449 (GRCm39)	S139A	probably benign	Het
Zfp820	C	A	17: 22,040,054 (GRCm39)	V52L	possibly damaging	Het
Zfyve26	T	A	12: 79,326,832 (GRCm39)	R764*	probably null	Het

Other mutations in Ncoa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02285:Ncoa5	APN	2	164,844,760 (GRCm39)	missense	probably damaging	1.00
IGL02624:Ncoa5	APN	2	164,854,981 (GRCm39)	missense	probably damaging	0.99
R0383:Ncoa5	UTSW	2	164,851,310 (GRCm39)	missense	possibly damaging	0.67
R0835:Ncoa5	UTSW	2	164,844,714 (GRCm39)	missense	probably damaging	1.00
R1667:Ncoa5	UTSW	2	164,843,623 (GRCm39)	missense	probably damaging	1.00
R2110:Ncoa5	UTSW	2	164,854,838 (GRCm39)	missense	possibly damaging	0.59
R4887:Ncoa5	UTSW	2	164,844,070 (GRCm39)	missense	probably damaging	1.00
R5631:Ncoa5	UTSW	2	164,855,041 (GRCm39)	missense	possibly damaging	0.90
R6616:Ncoa5	UTSW	2	164,852,483 (GRCm39)	nonsense	probably null
R6737:Ncoa5	UTSW	2	164,844,055 (GRCm39)	missense	probably damaging	1.00
R7015:Ncoa5	UTSW	2	164,844,001 (GRCm39)	missense	probably benign	0.02
R7567:Ncoa5	UTSW	2	164,846,171 (GRCm39)	missense	possibly damaging	0.83
R7840:Ncoa5	UTSW	2	164,854,816 (GRCm39)	missense	possibly damaging	0.66
R8289:Ncoa5	UTSW	2	164,854,982 (GRCm39)	missense	possibly damaging	0.90
R8915:Ncoa5	UTSW	2	164,854,927 (GRCm39)	missense	possibly damaging	0.90
R9502:Ncoa5	UTSW	2	164,854,802 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TTAGGCTCAGATAATAACAGTGGGG -3'
(R):5'- AAGCATTACAGTGGCTGTGG -3'

Sequencing Primer
(F):5'- TAACAGTGGGGCAGCCAAGTC -3'
(R):5'- CACCCAAGGTTTTATCTTGATGG -3'

Posted On

2016-06-06