Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Ncoa2'

24015

Institutional Source

Beutler Lab

Gene Symbol

Ncoa2

Ensembl Gene

ENSMUSG00000005886

Gene Name

nuclear receptor coactivator 2

Synonyms

SRC-2, TIF2, glucocorticoid receptor-interacting protein 1, D1Ertd433e, KAT13C, bHLHe75, TIF2/GRIP-1, TIF-2, Grip1

MMRRC Submission

038440-MU

Accession Numbers

Ncbi RefSeq: NM_008678.2, NM_001077695.1; MGI: 1276533

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

13139105-13374083 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 13186731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006037] [ENSMUST00000006037] [ENSMUST00000068304] [ENSMUST00000068304] [ENSMUST00000068304] [ENSMUST00000068304] [ENSMUST00000081713] [ENSMUST00000081713] [ENSMUST00000145280]

AlphaFold

Q61026

Predicted Effect

probably null
Transcript: ENSMUST00000006037

SMART Domains

Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886

Domain	Start	End	E-Value	Type
HLH	32	89	2.25e-8	SMART
PAS	114	181	4.52e-9	SMART
PAC	334	377	1.13e0	SMART
low complexity region	434	447	N/A	INTRINSIC
Pfam:NCOA_u2	463	587	6.7e-39	PFAM
Pfam:SRC-1	636	709	5.8e-23	PFAM
Pfam:DUF4927	731	816	2.7e-33	PFAM
low complexity region	1021	1037	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1071	1117	6.5e-27	PFAM
low complexity region	1183	1204	N/A	INTRINSIC
low complexity region	1243	1264	N/A	INTRINSIC
DUF1518	1279	1336	5.92e-28	SMART
low complexity region	1409	1420	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000006037

SMART Domains

Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886

Domain	Start	End	E-Value	Type
HLH	32	89	2.25e-8	SMART
PAS	114	181	4.52e-9	SMART
PAC	334	377	1.13e0	SMART
low complexity region	434	447	N/A	INTRINSIC
Pfam:NCOA_u2	463	587	6.7e-39	PFAM
Pfam:SRC-1	636	709	5.8e-23	PFAM
Pfam:DUF4927	731	816	2.7e-33	PFAM
low complexity region	1021	1037	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1071	1117	6.5e-27	PFAM
low complexity region	1183	1204	N/A	INTRINSIC
low complexity region	1243	1264	N/A	INTRINSIC
DUF1518	1279	1336	5.92e-28	SMART
low complexity region	1409	1420	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000068304

SMART Domains

Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886

Domain	Start	End	E-Value	Type
HLH	32	89	2.25e-8	SMART
PAS	114	181	4.52e-9	SMART
PAC	334	377	1.13e0	SMART
low complexity region	434	447	N/A	INTRINSIC
Pfam:SRC-1	636	709	2.2e-28	PFAM
low complexity region	802	813	N/A	INTRINSIC
low complexity region	952	968	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1002	1048	1.3e-25	PFAM
low complexity region	1114	1135	N/A	INTRINSIC
low complexity region	1174	1195	N/A	INTRINSIC
DUF1518	1210	1267	5.92e-28	SMART
low complexity region	1340	1351	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000068304

SMART Domains

Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886

Domain	Start	End	E-Value	Type
HLH	32	89	2.25e-8	SMART
PAS	114	181	4.52e-9	SMART
PAC	334	377	1.13e0	SMART
low complexity region	434	447	N/A	INTRINSIC
Pfam:SRC-1	636	709	2.2e-28	PFAM
low complexity region	802	813	N/A	INTRINSIC
low complexity region	952	968	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1002	1048	1.3e-25	PFAM
low complexity region	1114	1135	N/A	INTRINSIC
low complexity region	1174	1195	N/A	INTRINSIC
DUF1518	1210	1267	5.92e-28	SMART
low complexity region	1340	1351	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000068304

SMART Domains

Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886

Domain	Start	End	E-Value	Type
HLH	32	89	2.25e-8	SMART
PAS	114	181	4.52e-9	SMART
PAC	334	377	1.13e0	SMART
low complexity region	434	447	N/A	INTRINSIC
Pfam:SRC-1	636	709	2.2e-28	PFAM
low complexity region	802	813	N/A	INTRINSIC
low complexity region	952	968	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1002	1048	1.3e-25	PFAM
low complexity region	1114	1135	N/A	INTRINSIC
low complexity region	1174	1195	N/A	INTRINSIC
DUF1518	1210	1267	5.92e-28	SMART
low complexity region	1340	1351	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000068304

SMART Domains

Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886

Domain	Start	End	E-Value	Type
HLH	32	89	2.25e-8	SMART
PAS	114	181	4.52e-9	SMART
PAC	334	377	1.13e0	SMART
low complexity region	434	447	N/A	INTRINSIC
Pfam:SRC-1	636	709	2.2e-28	PFAM
low complexity region	802	813	N/A	INTRINSIC
low complexity region	952	968	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1002	1048	1.3e-25	PFAM
low complexity region	1114	1135	N/A	INTRINSIC
low complexity region	1174	1195	N/A	INTRINSIC
DUF1518	1210	1267	5.92e-28	SMART
low complexity region	1340	1351	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000081713

SMART Domains

Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886

Domain	Start	End	E-Value	Type
HLH	32	89	2.25e-8	SMART
PAS	114	181	4.52e-9	SMART
PAC	334	377	1.13e0	SMART
low complexity region	434	447	N/A	INTRINSIC
Pfam:SRC-1	636	709	2.2e-28	PFAM
low complexity region	802	813	N/A	INTRINSIC
low complexity region	952	968	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1002	1048	1.3e-25	PFAM
low complexity region	1114	1135	N/A	INTRINSIC
low complexity region	1174	1195	N/A	INTRINSIC
DUF1518	1210	1267	5.92e-28	SMART
low complexity region	1340	1351	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000081713

SMART Domains

Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886

Domain	Start	End	E-Value	Type
HLH	32	89	2.25e-8	SMART
PAS	114	181	4.52e-9	SMART
PAC	334	377	1.13e0	SMART
low complexity region	434	447	N/A	INTRINSIC
Pfam:SRC-1	636	709	2.2e-28	PFAM
low complexity region	802	813	N/A	INTRINSIC
low complexity region	952	968	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1002	1048	1.3e-25	PFAM
low complexity region	1114	1135	N/A	INTRINSIC
low complexity region	1174	1195	N/A	INTRINSIC
DUF1518	1210	1267	5.92e-28	SMART
low complexity region	1340	1351	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143603

Predicted Effect

probably benign
Transcript: ENSMUST00000145280

SMART Domains

Protein: ENSMUSP00000116641
Gene: ENSMUSG00000005886

Domain	Start	End	E-Value	Type
HLH	32	89	2.25e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147927

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (85/87)

MGI Phenotype

Strain: 2183803
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mice exhibit a transient postnatal growth deficiency and hypofertility. Male hypofertility is due to defects in spermiogenesis and an age-dependent testicular degeneration preceded by defective lipid metabolism in Sertoli cells. Female hypofertility is due to a placental hypoplasia. [provided by MGI curators]

Allele List at MGI

All alleles(43) : Targeted(4) Gene trapped(39)

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,794,578		probably null	Het
4930522L14Rik	T	C	5: 109,736,847	K382E	probably damaging	Het
Adck1	A	G	12: 88,455,510	E297G	probably damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Aldh3a2	C	T	11: 61,248,888	V473I	probably benign	Het
Arfgef3	A	T	10: 18,647,915	I369K	possibly damaging	Het
Atl2	A	G	17: 79,853,831		probably benign	Het
Atp1b3	T	C	9: 96,338,709	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,378,386	E520G	possibly damaging	Het
Bahcc1	A	T	11: 120,285,074		probably benign	Het
BB019430	A	T	10: 58,704,271		noncoding transcript	Het
BC028528	A	T	3: 95,887,334		probably benign	Het
Btbd1	T	A	7: 81,801,003	Q343L	probably benign	Het
Catsper1	A	G	19: 5,339,475	T473A	possibly damaging	Het
Chmp6	G	A	11: 119,915,523		probably null	Het
D130040H23Rik	T	C	8: 69,302,543	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,364,331		noncoding transcript	Het
Dcaf1	T	A	9: 106,844,145	S379T	possibly damaging	Het
Dcaf4	G	A	12: 83,535,988		probably benign	Het
Dhx58	T	C	11: 100,695,324	I624V	probably benign	Het
Disp3	T	C	4: 148,254,251	E821G	probably damaging	Het
Dlc1	T	A	8: 36,599,440	E464V	probably damaging	Het
Dnah10	G	A	5: 124,783,834	V2151I	probably damaging	Het
Dnah6	C	T	6: 73,188,535		probably benign	Het
Dnah8	G	A	17: 30,748,665	G2617D	probably benign	Het
Dnah9	C	A	11: 65,918,804	E872*	probably null	Het
Dock9	T	C	14: 121,597,665	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,716,646	I310F	probably damaging	Het
Fggy	A	T	4: 95,837,654	I137F	probably damaging	Het
Gli2	A	G	1: 118,890,283		probably benign	Het
Gm14421	A	T	2: 177,056,722		noncoding transcript	Het
Gm5689	T	A	18: 42,173,543	D58E	probably damaging	Het
Grin2a	A	G	16: 9,994,821		probably null	Het
Grin2b	A	G	6: 135,778,648		probably benign	Het
Incenp	A	G	19: 9,894,879	S72P	probably benign	Het
Ipo11	A	G	13: 106,910,194		probably benign	Het
Klc3	T	A	7: 19,394,926	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,247,505	S88P	probably benign	Het
Lrrc49	G	A	9: 60,680,600	T93I	probably benign	Het
Ltn1	G	A	16: 87,405,519		probably benign	Het
Mlycd	A	T	8: 119,407,641	Q294L	probably damaging	Het
Mmrn1	T	A	6: 60,975,815		probably benign	Het
Mrpl22	T	A	11: 58,171,821	I19N	probably benign	Het
Msh3	T	A	13: 92,349,209	K202N	probably damaging	Het
N4bp2	T	C	5: 65,803,573		probably benign	Het
Ncam1	C	T	9: 49,568,409	D90N	probably damaging	Het
Nckap5	A	T	1: 126,024,407	D1405E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nlrp1b	A	T	11: 71,164,099	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,469,150	N168K	possibly damaging	Het
Olfr1446	A	G	19: 12,890,445	L44P	probably damaging	Het
Ost4	T	C	5: 30,907,459	H26R	probably damaging	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Otogl	A	T	10: 107,874,530	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,470,186	S282P	probably damaging	Het
Prkcg	G	A	7: 3,329,119	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,887,089		probably null	Het
Rnf157	A	G	11: 116,354,810		probably benign	Het
Scmh1	T	C	4: 120,529,865		probably benign	Het
Sgo2b	T	C	8: 63,938,383	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,829,037	T5P	probably damaging	Het
Skint6	A	T	4: 112,991,236		probably benign	Het
Slfn10-ps	T	C	11: 83,035,302		noncoding transcript	Het
Sspo	T	A	6: 48,494,194		probably benign	Het
Tcp1	T	A	17: 12,922,747		probably benign	Het
Tdp2	A	G	13: 24,838,239	M214V	probably damaging	Het
Tenm4	T	G	7: 96,729,340		probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Tmem204	A	G	17: 25,058,350	I187T	probably damaging	Het
Tmem208	T	G	8: 105,334,694	D117E	probably benign	Het
Tnks1bp1	C	T	2: 85,059,221	P631S	possibly damaging	Het
Tomm70a	T	C	16: 57,147,821	V517A	probably damaging	Het
Ttc7	T	C	17: 87,379,895	V801A	probably damaging	Het
Txndc5	A	T	13: 38,507,953	C146S	probably damaging	Het
Ubac2	A	G	14: 122,008,917		probably benign	Het
Ube4b	G	T	4: 149,360,324	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008	Y504N	probably benign	Het
Ugt1a6a	T	C	1: 88,139,270	V266A	possibly damaging	Het
Ugt1a6b	T	A	1: 88,107,467	C176S	probably damaging	Het
Ulk3	T	A	9: 57,590,686	I90N	probably damaging	Het
Unc13c	T	C	9: 73,694,892	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r114	A	G	17: 23,309,826		probably null	Het
Vmn2r91	A	C	17: 18,106,137	N228T	probably benign	Het
Wdr43	T	G	17: 71,631,997		probably benign	Het
Wisp1	T	C	15: 66,919,210	L287P	probably damaging	Het
Zbtb6	G	T	2: 37,429,588	Y109*	probably null	Het
Zfp980	A	G	4: 145,701,997	D432G	probably benign	Het

Other mutations in Ncoa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Ncoa2	APN	1	13149079	missense	possibly damaging	0.91
IGL01469:Ncoa2	APN	1	13186869	missense	probably benign	0.02
IGL01735:Ncoa2	APN	1	13164903	missense	probably benign	0.01
IGL01799:Ncoa2	APN	1	13152375	splice site	probably benign
IGL02023:Ncoa2	APN	1	13174854	missense	probably damaging	1.00
IGL02115:Ncoa2	APN	1	13152817	missense	probably damaging	1.00
IGL02263:Ncoa2	APN	1	13174763	missense	probably damaging	1.00
IGL03131:Ncoa2	APN	1	13177174	missense	probably damaging	0.98
IGL03189:Ncoa2	APN	1	13190136	missense	probably damaging	1.00
IGL03240:Ncoa2	APN	1	13177092	missense	probably damaging	1.00
Swatch	UTSW	1	13181297	missense	probably damaging	0.99
R0017:Ncoa2	UTSW	1	13174752	missense	probably damaging	1.00
R0056:Ncoa2	UTSW	1	117516497	critical splice donor site	probably null
R0158:Ncoa2	UTSW	1	13152384	missense	probably benign	0.05
R0164:Ncoa2	UTSW	1	13186731	critical splice donor site	probably null
R0684:Ncoa2	UTSW	1	13224651	missense	probably damaging	0.99
R0788:Ncoa2	UTSW	1	13166889	splice site	probably benign
R1433:Ncoa2	UTSW	1	13148378	missense	probably benign	0.01
R1517:Ncoa2	UTSW	1	13165057	missense	probably benign	0.33
R1799:Ncoa2	UTSW	1	13162293	splice site	probably null
R1959:Ncoa2	UTSW	1	13160252	missense	probably damaging	1.00
R2034:Ncoa2	UTSW	1	13164983	missense	probably benign	0.00
R2175:Ncoa2	UTSW	1	13224613	missense	probably damaging	0.96
R2437:Ncoa2	UTSW	1	13148360	missense	probably damaging	0.98
R2851:Ncoa2	UTSW	1	13186889	missense	probably damaging	1.00
R2853:Ncoa2	UTSW	1	13186889	missense	probably damaging	1.00
R4334:Ncoa2	UTSW	1	13174963	missense	possibly damaging	0.77
R4365:Ncoa2	UTSW	1	13180547	missense	probably damaging	0.96
R4386:Ncoa2	UTSW	1	13177165	missense	probably damaging	0.99
R4516:Ncoa2	UTSW	1	13146906	missense	probably damaging	0.99
R5109:Ncoa2	UTSW	1	13186846	missense	probably damaging	1.00
R5162:Ncoa2	UTSW	1	13175172	missense	possibly damaging	0.79
R5183:Ncoa2	UTSW	1	13174366	missense	probably damaging	1.00
R5250:Ncoa2	UTSW	1	13224689	missense	probably damaging	1.00
R5514:Ncoa2	UTSW	1	13181221	missense	probably damaging	1.00
R5691:Ncoa2	UTSW	1	13180550	missense	probably damaging	0.99
R5837:Ncoa2	UTSW	1	13224706	utr 5 prime	probably benign
R6003:Ncoa2	UTSW	1	13167030	missense	possibly damaging	0.81
R6134:Ncoa2	UTSW	1	13174371	missense	probably damaging	1.00
R6559:Ncoa2	UTSW	1	13150617	splice site	probably null
R6623:Ncoa2	UTSW	1	13181297	missense	probably damaging	0.99
R6949:Ncoa2	UTSW	1	13156501	missense	possibly damaging	0.92
R7090:Ncoa2	UTSW	1	13186838	missense	probably damaging	1.00
R7251:Ncoa2	UTSW	1	13148375	missense	probably benign	0.01
R7389:Ncoa2	UTSW	1	13186825	missense	possibly damaging	0.62
R7565:Ncoa2	UTSW	1	13148376	missense	probably benign	0.03
R7602:Ncoa2	UTSW	1	13177126	missense	possibly damaging	0.95
R7661:Ncoa2	UTSW	1	13174537	missense	probably damaging	1.00
R7735:Ncoa2	UTSW	1	13148437	missense	probably benign	0.31
R8366:Ncoa2	UTSW	1	13180606	missense	probably damaging	1.00
R8824:Ncoa2	UTSW	1	13177185	missense	probably benign	0.34
R9028:Ncoa2	UTSW	1	13152855	missense	probably benign	0.00
R9084:Ncoa2	UTSW	1	13174429	missense	probably damaging	1.00
RF021:Ncoa2	UTSW	1	13149109	critical splice acceptor site	probably benign
X0063:Ncoa2	UTSW	1	13175238	missense	possibly damaging	0.82
X0066:Ncoa2	UTSW	1	13148449	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCTTTTGATGGCAGGCGAGAAGC -3'
(R):5'- TGTGAACCTGGAAGGCAGTGTG -3'

Sequencing Primer
(F):5'- TATAACAAACCCTCCTGCTAGTTG -3'
(R):5'- AAGGCAGTGTGGTGTTCG -3'

Posted On

2013-04-16