Incidental Mutation 'R2853:Ncoa2'
| ID |
252363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa2
|
| Ensembl Gene |
ENSMUSG00000005886 |
| Gene Name |
nuclear receptor coactivator 2 |
| Synonyms |
TIF2/GRIP-1, Grip1, KAT13C, SRC-2, TIF-2, glucocorticoid receptor-interacting protein 1, TIF2, bHLHe75, D1Ertd433e |
| MMRRC Submission |
040446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R2853 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
13209329-13444307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13257113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 129
(V129I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006037]
[ENSMUST00000068304]
[ENSMUST00000081713]
[ENSMUST00000145280]
|
| AlphaFold |
Q61026 |
| PDB Structure |
Human Estrogen Receptor alpha Ligand-binding Domain in Complex with (R,R)-5,11-cis-diethyl-5,6,11,12-tetrahydrochrysene-2,8-diol and a Glucocorticoid Receptor Interacting Protein 1 NR box II Peptide [X-RAY DIFFRACTION]
STRUCTURAL BASIS FOR BILE ACID BINDING AND ACTIVATION OF THE NUCLEAR RECEPTOR FXR [X-RAY DIFFRACTION]
PPARgamma in complex with a 2-BABA compound [X-RAY DIFFRACTION]
Crystal Structure of Estrogen Receptor alpha Complexed to a B-N Substituted Ligand [X-RAY DIFFRACTION]
Crystal Structure of Estrogen Receptor Alpha mutant 537S Complexed with 4-(6-hydroxy-1H-indazol-3-yl)benzene-1,3-diol [X-RAY DIFFRACTION]
Crystal Structure of the Estrogen Receptor Alpha Ligand Binding Domain Mutant 537S Complexed with Genistein [X-RAY DIFFRACTION]
Crystal Structure of Estrogen Receptor Alpha Ligand Binding Domain Mutant 537S Complexed with an Ethyl Indazole Compound [X-RAY DIFFRACTION]
Crystal Structure of the Estrogen Receptor Alpha Ligand Binding Domain Complexed to an Ether Estradiol Compound [X-RAY DIFFRACTION]
Crystal Structure of the Estrogen Receptor Alpha Ligand Binding Domain Complexed with a Chloro-Indazole Compound [X-RAY DIFFRACTION]
Crystal Structure of the Estrogen Receptor Alpha Ligand Binding Domain Complexed with an Oxabicyclic diarylethylene Compound [X-RAY DIFFRACTION]
>> 8 additional structures at PDB <<
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006037
AA Change: V129I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886
AA Change: V129I
| 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 |
possibly damaging
Transcript: ENSMUST00000068304
AA Change: V129I
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886
AA Change: V129I
| 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 |
possibly damaging
Transcript: ENSMUST00000081713
AA Change: V129I
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886
AA Change: V129I
| 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 |
0.3892 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
C |
16: 8,418,832 (GRCm39) |
K142T |
probably damaging |
Het |
| Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
| Angptl7 |
T |
C |
4: 148,584,736 (GRCm39) |
E4G |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,764 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
T |
C |
11: 97,383,420 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Atosb |
A |
G |
4: 43,036,293 (GRCm39) |
L146P |
probably benign |
Het |
| Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,754,288 (GRCm39) |
S67P |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,435,645 (GRCm39) |
V1104I |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,907,355 (GRCm39) |
I644V |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Ids |
G |
T |
X: 69,396,776 (GRCm39) |
T329K |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,427,003 (GRCm39) |
I1107T |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mtm1 |
T |
G |
X: 70,345,389 (GRCm39) |
I437S |
probably damaging |
Het |
| Ncs1 |
T |
C |
2: 31,177,329 (GRCm39) |
F169L |
probably damaging |
Het |
| Ndst2 |
T |
C |
14: 20,779,964 (GRCm39) |
E92G |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,124 (GRCm39) |
V164A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
| Scgb1b20 |
A |
C |
7: 33,072,949 (GRCm39) |
K52N |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,809,597 (GRCm39) |
L612Q |
probably damaging |
Het |
| Srprb |
G |
A |
9: 103,076,038 (GRCm39) |
Q800* |
probably null |
Het |
| Ss18l1 |
A |
G |
2: 179,699,914 (GRCm39) |
Y258C |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,063,386 (GRCm39) |
K1567R |
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,622,967 (GRCm39) |
F122S |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
|
| Other mutations in Ncoa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Ncoa2
|
APN |
1 |
13,219,303 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01469:Ncoa2
|
APN |
1 |
13,257,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01735:Ncoa2
|
APN |
1 |
13,235,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01799:Ncoa2
|
APN |
1 |
13,222,599 (GRCm39) |
splice site |
probably benign |
|
|
IGL02023:Ncoa2
|
APN |
1 |
13,245,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02115:Ncoa2
|
APN |
1 |
13,223,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02263:Ncoa2
|
APN |
1 |
13,244,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03131:Ncoa2
|
APN |
1 |
13,247,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03189:Ncoa2
|
APN |
1 |
13,260,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Ncoa2
|
APN |
1 |
13,247,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Swatch
|
UTSW |
1 |
13,251,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0017:Ncoa2
|
UTSW |
1 |
13,244,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0056:Ncoa2
|
UTSW |
1 |
117,516,497 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0158:Ncoa2
|
UTSW |
1 |
13,222,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0164:Ncoa2
|
UTSW |
1 |
13,256,955 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0164:Ncoa2
|
UTSW |
1 |
13,256,955 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0684:Ncoa2
|
UTSW |
1 |
13,294,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0788:Ncoa2
|
UTSW |
1 |
13,237,113 (GRCm39) |
splice site |
probably benign |
|
|
R1433:Ncoa2
|
UTSW |
1 |
13,218,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1517:Ncoa2
|
UTSW |
1 |
13,235,281 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1799:Ncoa2
|
UTSW |
1 |
13,232,517 (GRCm39) |
splice site |
probably null |
|
|
R1959:Ncoa2
|
UTSW |
1 |
13,230,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Ncoa2
|
UTSW |
1 |
13,235,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2175:Ncoa2
|
UTSW |
1 |
13,294,837 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2437:Ncoa2
|
UTSW |
1 |
13,218,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2851:Ncoa2
|
UTSW |
1 |
13,257,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Ncoa2
|
UTSW |
1 |
13,245,187 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4365:Ncoa2
|
UTSW |
1 |
13,250,771 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4386:Ncoa2
|
UTSW |
1 |
13,247,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4516:Ncoa2
|
UTSW |
1 |
13,217,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5109:Ncoa2
|
UTSW |
1 |
13,257,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Ncoa2
|
UTSW |
1 |
13,245,396 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5183:Ncoa2
|
UTSW |
1 |
13,244,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Ncoa2
|
UTSW |
1 |
13,294,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Ncoa2
|
UTSW |
1 |
13,251,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5691:Ncoa2
|
UTSW |
1 |
13,250,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5837:Ncoa2
|
UTSW |
1 |
13,294,930 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6003:Ncoa2
|
UTSW |
1 |
13,237,254 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6134:Ncoa2
|
UTSW |
1 |
13,244,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6559:Ncoa2
|
UTSW |
1 |
13,220,841 (GRCm39) |
splice site |
probably null |
|
|
R6623:Ncoa2
|
UTSW |
1 |
13,251,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6949:Ncoa2
|
UTSW |
1 |
13,226,725 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7090:Ncoa2
|
UTSW |
1 |
13,257,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7251:Ncoa2
|
UTSW |
1 |
13,218,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7389:Ncoa2
|
UTSW |
1 |
13,257,049 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7565:Ncoa2
|
UTSW |
1 |
13,218,600 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7602:Ncoa2
|
UTSW |
1 |
13,247,350 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7661:Ncoa2
|
UTSW |
1 |
13,244,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Ncoa2
|
UTSW |
1 |
13,218,661 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8366:Ncoa2
|
UTSW |
1 |
13,250,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Ncoa2
|
UTSW |
1 |
13,247,409 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9028:Ncoa2
|
UTSW |
1 |
13,223,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9084:Ncoa2
|
UTSW |
1 |
13,244,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Ncoa2
|
UTSW |
1 |
13,245,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Ncoa2
|
UTSW |
1 |
13,260,355 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9793:Ncoa2
|
UTSW |
1 |
13,260,355 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
RF021:Ncoa2
|
UTSW |
1 |
13,219,333 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
X0063:Ncoa2
|
UTSW |
1 |
13,245,462 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0066:Ncoa2
|
UTSW |
1 |
13,218,673 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATCCACTGACATTTACCC -3'
(R):5'- TCTGGCAGGTTAACAGACTTC -3'
Sequencing Primer
(F):5'- GACATTTACCCATGGACTTTGGCAG -3'
(R):5'- GGCAGGTTAACAGACTTCATGTTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation