Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Ncoa5'

376948

Institutional Source

Beutler Lab

Gene Symbol

Ncoa5

Ensembl Gene

ENSMUSG00000039804

Gene Name

nuclear receptor coactivator 5

Synonyms

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165000357-165034867 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165002150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 111 (L111P)

Ref Sequence

ENSEMBL: ENSMUSP00000113872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040381] [ENSMUST00000099092] [ENSMUST00000121377] [ENSMUST00000122070] [ENSMUST00000202223] [ENSMUST00000202479] [ENSMUST00000202623]

AlphaFold

Q91W39

Predicted Effect

probably benign
Transcript: ENSMUST00000040381
AA Change: L391P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000046388
Gene: ENSMUSG00000039804
AA Change: L391P

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: ENSMUST00000099092

SMART Domains

Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	77	90	N/A	INTRINSIC
Pfam:AA_permease	102	304	5.2e-22	PFAM
Pfam:AA_permease_2	364	632	1e-17	PFAM
Pfam:AA_permease	389	676	1.9e-42	PFAM
Pfam:SLC12	688	814	2.1e-19	PFAM
Pfam:SLC12	807	959	1.8e-20	PFAM
low complexity region	978	1002	N/A	INTRINSIC
Pfam:SLC12	1009	1115	2.1e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121377
AA Change: L111P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113872
Gene: ENSMUSG00000039804
AA Change: L111P

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

possibly damaging
Transcript: ENSMUST00000122070
AA Change: S399P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113166
Gene: ENSMUSG00000039804
AA Change: S399P

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: ENSMUST00000137302

Predicted Effect

probably benign
Transcript: ENSMUST00000202223

SMART Domains

Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
low complexity region	100	113	N/A	INTRINSIC
Pfam:AA_permease	125	327	1e-19	PFAM
Pfam:AA_permease_2	386	655	4.5e-15	PFAM
Pfam:AA_permease	412	699	3.7e-40	PFAM
Pfam:SLC12	711	837	7.2e-17	PFAM
Pfam:SLC12	830	982	6.2e-18	PFAM
low complexity region	1001	1025	N/A	INTRINSIC
Pfam:SLC12	1030	1133	8.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202479

SMART Domains

Protein: ENSMUSP00000144540
Gene: ENSMUSG00000017740

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	77	90	N/A	INTRINSIC
Pfam:AA_permease	102	176	5.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202623

SMART Domains

Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
low complexity region	100	113	N/A	INTRINSIC
Pfam:AA_permease	125	327	5.3e-22	PFAM
Pfam:AA_permease_2	386	655	1.2e-17	PFAM
Pfam:AA_permease	412	699	2e-42	PFAM
Pfam:SLC12	711	837	2.1e-19	PFAM
Pfam:SLC12	830	982	1.8e-20	PFAM
low complexity region	1001	1025	N/A	INTRINSIC
Pfam:SLC12	1032	1138	2.2e-15	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,324	I22F	possibly damaging	Het
2310009B15Rik	A	C	1: 138,852,165	Y116*	probably null	Het
4930548H24Rik	A	G	5: 31,486,252	I109V	probably benign	Het
Acer3	T	C	7: 98,257,701	T91A	possibly damaging	Het
Adam12	T	C	7: 134,172,821	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,574,614	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,454,378	V98I	probably benign	Het
Alpk1	C	T	3: 127,673,475	G1052R	probably damaging	Het
Anln	A	T	9: 22,380,188	S115T	possibly damaging	Het
Apob	T	A	12: 8,013,099	N3827K	probably damaging	Het
Aqr	G	A	2: 114,150,509	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,532,192	S123G	probably damaging	Het
Arvcf	C	T	16: 18,398,113	R333*	probably null	Het
Brca2	T	A	5: 150,556,937	L2724Q	probably damaging	Het
Btbd11	C	T	10: 85,387,378	T17M	unknown	Het
C2cd6	T	A	1: 59,094,734	T43S	probably benign	Het
Cacna1h	A	G	17: 25,377,287	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,772	I26F	possibly damaging	Het
Card10	A	T	15: 78,781,524	V673E	possibly damaging	Het
Ccar1	A	G	10: 62,753,218	S829P	unknown	Het
Cdc42bpa	T	C	1: 180,144,635	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,520,832	C267Y	probably benign	Het
Cep68	G	A	11: 20,239,239	T591M	probably benign	Het
Chil4	T	C	3: 106,204,144	K218R	probably benign	Het
Cldn14	G	T	16: 93,919,859	T33K	possibly damaging	Het
Copa	T	A	1: 172,092,276	C140S	probably benign	Het
Coq6	T	C	12: 84,372,296	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,872,068	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,497,159	S414A	probably benign	Het
Dpm1	T	C	2: 168,217,759	N139S	probably benign	Het
Dpp7	T	A	2: 25,352,758		probably null	Het
Ednrb	T	C	14: 103,820,011	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Fam135a	G	A	1: 24,024,253	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866	T275A	probably benign	Het
Fbn1	T	A	2: 125,309,774	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,581,961	S587P	unknown	Het
Foxr2	A	G	X: 153,130,316	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,902,416	*124W	probably null	Het
Gm16432	A	G	1: 178,103,949	Y478C	unknown	Het
Gm7535	T	A	17: 17,911,071		probably benign	Het
Gm884	T	C	11: 103,614,872	H2090R	probably benign	Het
Gm996	G	A	2: 25,579,747	R51C	possibly damaging	Het
Herc3	T	C	6: 58,887,499	V706A	probably damaging	Het
Hist1h4a	T	C	13: 23,760,952	D69G	probably damaging	Het
Hivep3	A	G	4: 120,122,934	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,322,650	I382V	probably benign	Het
Ints1	G	T	5: 139,771,156	T467N	possibly damaging	Het
Iqca	G	A	1: 90,045,701	T783M	probably damaging	Het
Kng1	A	G	16: 23,067,698	K131R	possibly damaging	Het
Krt35	T	C	11: 100,093,130	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 102,113,536	C64R	probably damaging	Het
Lilr4b	C	T	10: 51,484,520	A272V	possibly damaging	Het
Ltn1	A	T	16: 87,398,809	C1276*	probably null	Het
Matn1	G	A	4: 130,952,114	A360T	probably benign	Het
Minpp1	G	A	19: 32,498,384	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,546,409		probably benign	Het
Ms4a2	A	G	19: 11,618,429	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,077,103	Y235*	probably null	Het
Myh4	G	T	11: 67,241,054	W113C	probably damaging	Het
Nav2	T	A	7: 49,548,434	C1270*	probably null	Het
Nup107	T	C	10: 117,770,478	Y453C	probably damaging	Het
Oca2	C	T	7: 56,330,358	Q604*	probably null	Het
Olfr116	A	T	17: 37,623,891	V248D	probably damaging	Het
Olfr1339	A	C	4: 118,734,688	H53P	probably benign	Het
Olfr482	T	A	7: 108,095,096	N158I	probably benign	Het
Olfr525	T	C	7: 140,323,101	M134T	probably benign	Het
Olfr952	T	C	9: 39,426,235	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,470,942	G514V	possibly damaging	Het
Pik3cb	A	T	9: 99,101,328	C76S	probably damaging	Het
Plk1	T	C	7: 122,168,605	V411A	probably damaging	Het
Pole	C	T	5: 110,324,753	P1600L	probably damaging	Het
Prr36	T	C	8: 4,210,881	T979A	probably benign	Het
Rdh7	T	A	10: 127,885,721	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,915,113	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,798,694	S947T	probably benign	Het
Rtl1	A	G	12: 109,591,704	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,791,708	M279I	probably damaging	Het
Siae	T	C	9: 37,627,800	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,249,752	V364I	probably benign	Het
Sltm	G	T	9: 70,588,978	V932F	probably damaging	Het
Smad1	A	G	8: 79,349,752	L279P	probably damaging	Het
Spag17	G	T	3: 100,050,831	G935V	probably damaging	Het
Srgap3	A	G	6: 112,746,934	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,809,100	I519V	probably benign	Het
Syt16	A	T	12: 74,129,386	I10F	probably damaging	Het
Trim43b	C	G	9: 89,091,312	G123R	probably damaging	Het
Ubr3	T	C	2: 70,013,131	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,008,665	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,377,986	W303R	probably benign	Het
Wdr93	T	C	7: 79,785,774	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,071,002	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776	C394Y	possibly damaging	Het

Other mutations in Ncoa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02285:Ncoa5	APN	2	165002840	missense	probably damaging	1.00
IGL02624:Ncoa5	APN	2	165013061	missense	probably damaging	0.99
R0383:Ncoa5	UTSW	2	165009390	missense	possibly damaging	0.67
R0835:Ncoa5	UTSW	2	165002794	missense	probably damaging	1.00
R1667:Ncoa5	UTSW	2	165001703	missense	probably damaging	1.00
R2110:Ncoa5	UTSW	2	165012918	missense	possibly damaging	0.59
R5100:Ncoa5	UTSW	2	165009389	missense	probably damaging	0.99
R5631:Ncoa5	UTSW	2	165013121	missense	possibly damaging	0.90
R6616:Ncoa5	UTSW	2	165010563	nonsense	probably null
R6737:Ncoa5	UTSW	2	165002135	missense	probably damaging	1.00
R7015:Ncoa5	UTSW	2	165002081	missense	probably benign	0.02
R7567:Ncoa5	UTSW	2	165004251	missense	possibly damaging	0.83
R7840:Ncoa5	UTSW	2	165012896	missense	possibly damaging	0.66
R8289:Ncoa5	UTSW	2	165013062	missense	possibly damaging	0.90
R8915:Ncoa5	UTSW	2	165013007	missense	possibly damaging	0.90
R9502:Ncoa5	UTSW	2	165012882	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AAATTCTGGTTCTGGGAGCTTC -3'
(R):5'- AGCAATTCTGTTGGGCATTG -3'

Sequencing Primer
(F):5'- AGCTTCCGGTAGCCACTGAG -3'
(R):5'- GGCATTGGGCTGCTCTC -3'

Posted On

2016-03-17