Incidental Mutation 'R4516:Ncoa2'
| ID |
332891 |
| 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 |
041760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R4516 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
13209329-13444307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13217130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1380
(D1380G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006037]
[ENSMUST00000068304]
[ENSMUST00000081713]
|
| AlphaFold |
Q61026 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006037
AA Change: D1449G
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886
AA Change: D1449G
| 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 damaging
Transcript: ENSMUST00000068304
AA Change: D1380G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886
AA Change: D1380G
| 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 damaging
Transcript: ENSMUST00000081713
AA Change: D1380G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886
AA Change: D1380G
| 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: ENSMUST00000133232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185275
|
| Meta Mutation Damage Score |
0.0655 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
86% (51/59) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bean1 |
T |
C |
8: 104,941,786 (GRCm39) |
S211P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,949,460 (GRCm39) |
S369P |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,177 (GRCm39) |
S552P |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,400,594 (GRCm39) |
T125A |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,194,952 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,294,227 (GRCm39) |
Y224* |
probably null |
Het |
| Cfap46 |
G |
A |
7: 139,239,998 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
G |
A |
2: 35,017,993 (GRCm39) |
V468I |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,148 (GRCm39) |
V2071I |
possibly damaging |
Het |
| Coq7 |
A |
T |
7: 118,109,130 (GRCm39) |
L306Q |
unknown |
Het |
| D7Ertd443e |
C |
G |
7: 133,895,057 (GRCm39) |
Q591H |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,404,059 (GRCm39) |
V2828M |
probably damaging |
Het |
| Dzank1 |
T |
A |
2: 144,352,042 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
C |
T |
13: 20,467,084 (GRCm39) |
T235I |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,785,326 (GRCm39) |
F492I |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,231,671 (GRCm39) |
S90G |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,986,061 (GRCm39) |
|
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Got1 |
T |
C |
19: 43,493,280 (GRCm39) |
Y243C |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,345 (GRCm39) |
M673K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,628,415 (GRCm39) |
D1502E |
probably damaging |
Het |
| Limk1 |
A |
G |
5: 134,705,640 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,758,745 (GRCm39) |
Y242C |
probably damaging |
Het |
| Naa12 |
G |
A |
18: 80,254,791 (GRCm39) |
M28I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,157,824 (GRCm39) |
V354A |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,057,233 (GRCm39) |
T280S |
probably damaging |
Het |
| Or1e29 |
C |
T |
11: 73,667,866 (GRCm39) |
G96S |
probably benign |
Het |
| Or4c15b |
T |
A |
2: 89,113,187 (GRCm39) |
M118L |
probably benign |
Het |
| Pax7 |
T |
G |
4: 139,508,104 (GRCm39) |
D307A |
probably benign |
Het |
| Pdxdc1 |
G |
A |
16: 13,656,210 (GRCm39) |
Q621* |
probably null |
Het |
| Rab29 |
A |
T |
1: 131,795,469 (GRCm39) |
Y27F |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,548,165 (GRCm39) |
T278A |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc47a1 |
T |
C |
11: 61,235,339 (GRCm39) |
H498R |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,517,200 (GRCm39) |
|
probably benign |
Het |
| Tas2r116 |
T |
C |
6: 132,833,113 (GRCm39) |
L238P |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,782,364 (GRCm39) |
R252* |
probably null |
Het |
| Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
| Tmem106b |
C |
T |
6: 13,075,098 (GRCm39) |
T95I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r174 |
A |
G |
7: 23,453,768 (GRCm39) |
I145V |
probably benign |
Het |
| Vps26a |
T |
C |
10: 62,304,124 (GRCm39) |
M116V |
probably damaging |
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 |
|
R2853: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 |
|
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'- CAGTTGCATTTGCTGTAGGC -3'
(R):5'- AGTGTTTGCAGCCTCCTCTG -3'
Sequencing Primer
(F):5'- CAGGCTGGTCTTAAACTCACAGTG -3'
(R):5'- CTGCCCCATGTGTGCAC -3'
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| Posted On |
2015-08-18 |
Incidental Mutation