Mutagenetix > Incidental Mutation

Incidental Mutation 'R8289:Ncoa5'

638556

Institutional Source

Beutler Lab

Gene Symbol

Ncoa5

Ensembl Gene

ENSMUSG00000039804

Gene Name

nuclear receptor coactivator 5

Synonyms

MMRRC Submission

067711-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164842277-164876787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164854982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 47 (D47N)

Ref Sequence

ENSEMBL: ENSMUSP00000046388 (fasta)

Gene Model

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

AlphaFold

Q91W39

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040381
AA Change: D47N

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046388
Gene: ENSMUSG00000039804
AA Change: D47N

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

unknown
Transcript: ENSMUST00000122070
AA Change: D47N

SMART Domains

Protein: ENSMUSP00000113166
Gene: ENSMUSG00000039804
AA Change: D47N

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

possibly damaging
Transcript: ENSMUST00000153905
AA Change: D47N

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116778
Gene: ENSMUSG00000039804
AA Change: D47N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	C	11: 109,927,515 (GRCm39)		probably benign	Het
Adamts3	C	A	5: 89,923,282 (GRCm39)	D175Y	possibly damaging	Het
Adra1b	G	A	11: 43,726,315 (GRCm39)	P201S	probably damaging	Het
Ahnak2	A	G	12: 112,742,242 (GRCm39)	V610A	possibly damaging	Het
Ap5s1	A	C	2: 131,054,379 (GRCm39)	H62P	probably benign	Het
Apeh	A	G	9: 107,963,444 (GRCm39)	S593P	probably damaging	Het
Arhgap24	T	C	5: 103,028,692 (GRCm39)	V289A	possibly damaging	Het
Atoh1	A	G	6: 64,706,893 (GRCm39)	E196G	probably damaging	Het
Atp1b3	G	A	9: 96,215,602 (GRCm39)	S271L	probably benign	Het
Atp6v0a1	A	G	11: 100,924,931 (GRCm39)	R339G	probably damaging	Het
Calb2	T	C	8: 110,894,690 (GRCm39)	H27R	possibly damaging	Het
Camkk2	A	C	5: 122,894,689 (GRCm39)	L201R	probably damaging	Het
Car15	A	G	16: 17,654,580 (GRCm39)		probably null	Het
Cecr2	A	G	6: 120,735,077 (GRCm39)	N771S	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Csmd1	T	A	8: 16,108,716 (GRCm39)	I1896F	probably damaging	Het
Cubn	C	T	2: 13,491,613 (GRCm39)	V145I	probably benign	Het
Cuedc1	G	A	11: 88,073,381 (GRCm39)	S182N	probably benign	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Cyp7a1	G	A	4: 6,268,295 (GRCm39)	P477S	probably damaging	Het
Dcaf17	T	A	2: 70,885,718 (GRCm39)	W16R		Het
Dhx8	T	A	11: 101,631,571 (GRCm39)	M388K	probably benign	Het
Dnah14	T	A	1: 181,543,780 (GRCm39)	Y2453*	probably null	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,360 (GRCm39)	E148K	probably benign	Het
Hectd4	A	G	5: 121,404,424 (GRCm39)	T434A	possibly damaging	Het
Ide	A	G	19: 37,290,952 (GRCm39)	L368P		Het
Ide	G	C	19: 37,290,953 (GRCm39)	L368V	probably null	Het
Ifi206	T	C	1: 173,308,032 (GRCm39)	I655V		Het
Insrr	A	G	3: 87,721,501 (GRCm39)	M1136V	probably damaging	Het
Kcne2	A	G	16: 92,093,707 (GRCm39)	E78G	probably damaging	Het
Lrrc23	A	T	6: 124,755,267 (GRCm39)	L90H	probably damaging	Het
Magel2	A	C	7: 62,028,875 (GRCm39)	Q593P	unknown	Het
Mrgpra3	G	A	7: 47,239,468 (GRCm39)	H153Y	possibly damaging	Het
Msln	A	G	17: 25,967,880 (GRCm39)	V595A	possibly damaging	Het
Mvb12a	T	C	8: 71,995,703 (GRCm39)		probably null	Het
Myo7a	T	G	7: 97,726,376 (GRCm39)	M966L	probably benign	Het
Neurl4	T	A	11: 69,800,206 (GRCm39)		probably null	Het
Or1e29	T	A	11: 73,667,839 (GRCm39)	M105L	probably benign	Het
Or4d1	T	C	11: 87,805,589 (GRCm39)	T48A	probably benign	Het
Or5p75-ps1	T	A	7: 108,108,125 (GRCm39)	H287Q	unknown	Het
Or8b37	T	A	9: 37,959,000 (GRCm39)	C161S	probably benign	Het
Osbpl7	T	A	11: 96,947,405 (GRCm39)	S480T	probably benign	Het
Podnl1	T	C	8: 84,858,552 (GRCm39)	L484P		Het
Polr3gl	G	T	3: 96,489,228 (GRCm39)		probably benign	Het
Prkaa1	G	T	15: 5,206,563 (GRCm39)	V438L	possibly damaging	Het
Prune2	A	T	19: 17,100,373 (GRCm39)	H1959L	probably benign	Het
Rad50	A	T	11: 53,589,685 (GRCm39)	L172*	probably null	Het
Samsn1	C	A	16: 75,685,684 (GRCm39)	G25W	probably damaging	Het
Sbno1	T	G	5: 124,542,068 (GRCm39)	L362F	probably damaging	Het
Slc26a6	G	A	9: 108,733,230 (GRCm39)	R43H	probably benign	Het
Slc35f5	T	G	1: 125,490,252 (GRCm39)	Y49*	probably null	Het
Slc41a2	T	C	10: 83,137,044 (GRCm39)	I288V	probably benign	Het
Slc9c1	A	G	16: 45,403,344 (GRCm39)	M804V	probably benign	Het
Smc6	T	A	12: 11,324,052 (GRCm39)	S66T	probably benign	Het
Ssh1	T	C	5: 114,080,445 (GRCm39)	D995G	probably benign	Het
Stk11	G	T	10: 79,961,740 (GRCm39)		probably benign	Het
Sycp1	A	G	3: 102,748,353 (GRCm39)	I813T	probably benign	Het
Tmem121b	A	T	6: 120,469,722 (GRCm39)	S332T	possibly damaging	Het
Treml4	A	C	17: 48,581,456 (GRCm39)	I244L	probably benign	Het
Unc13b	T	A	4: 43,172,524 (GRCm39)	C1117*	probably null	Het
Wdr35	A	G	12: 9,058,020 (GRCm39)	I526V	probably benign	Het
Zap70	T	C	1: 36,820,218 (GRCm39)	W500R	probably damaging	Het
Zfr	G	T	15: 12,135,357 (GRCm39)	V49F	noncoding transcript	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
R5100:Ncoa5	UTSW	2	164,851,309 (GRCm39)	missense	probably damaging	0.99
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
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'- ACCTGTACAAAGGGTCTCTGG -3'
(R):5'- CTCTTATACAGAGCTGAAGGGTTGG -3'

Sequencing Primer
(F):5'- GTCATACACAGGGTCTCGATGATC -3'
(R):5'- AGCTGAAGGGTTGGCTACC -3'

Posted On

2020-07-28