Incidental Mutation 'R7251:Ncoa2'
ID 563896
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 045313-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R7251 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 13209329-13444307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13218599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 1410 (S1410N)
Ref Sequence ENSEMBL: ENSMUSP00000006037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006037] [ENSMUST00000068304] [ENSMUST00000081713]
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 benign
Transcript: ENSMUST00000006037
AA Change: S1410N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886
AA Change: S1410N

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000068304
AA Change: S1341N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886
AA Change: S1341N

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000081713
AA Change: S1341N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886
AA Change: S1341N

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Adamts19 A T 18: 58,970,974 (GRCm39) D186V probably damaging Het
Agrn T C 4: 156,259,063 (GRCm39) D884G probably damaging Het
Akr1c6 T A 13: 4,497,019 (GRCm39) C154S probably damaging Het
Apob T C 12: 8,057,037 (GRCm39) Y1840H probably damaging Het
Arfgef1 T C 1: 10,269,200 (GRCm39) E399G possibly damaging Het
Arg2 G A 12: 79,197,572 (GRCm39) G197S probably damaging Het
Arhgap32 T C 9: 32,119,481 (GRCm39) V308A probably damaging Het
Atcay A T 10: 81,046,366 (GRCm39) C319* probably null Het
Bend4 C G 5: 67,584,876 (GRCm39) R16P unknown Het
Braf A G 6: 39,654,504 (GRCm39) probably null Het
Camsap1 T C 2: 25,828,898 (GRCm39) E942G probably damaging Het
Cdpf1 C T 15: 85,693,494 (GRCm39) G11D probably damaging Het
Cgn T C 3: 94,683,509 (GRCm39) E382G possibly damaging Het
Cndp1 T A 18: 84,640,322 (GRCm39) E294D probably benign Het
Cnn1 T A 9: 22,019,513 (GRCm39) Y294N unknown Het
Cyp2ab1 A G 16: 20,134,646 (GRCm39) F104S possibly damaging Het
Cyp2t4 G A 7: 26,857,144 (GRCm39) V336M possibly damaging Het
D430041D05Rik T A 2: 104,051,511 (GRCm39) D782V probably damaging Het
Ddx39b A G 17: 35,472,464 (GRCm39) *429W probably null Het
Dgkb T C 12: 38,031,985 (GRCm39) S16P possibly damaging Het
Dll4 T C 2: 119,162,773 (GRCm39) C465R probably damaging Het
Dsp A G 13: 38,377,524 (GRCm39) I1770V probably benign Het
Fbxw11 A G 11: 32,681,370 (GRCm39) N250S probably benign Het
Fsip2 G A 2: 82,809,425 (GRCm39) V1915M possibly damaging Het
Greb1l G A 18: 10,515,319 (GRCm39) V704M probably damaging Het
Hgf T A 5: 16,798,942 (GRCm39) N323K possibly damaging Het
Hhatl A T 9: 121,614,116 (GRCm39) probably null Het
Hip1r T C 5: 124,132,813 (GRCm39) S204P probably damaging Het
Igsf10 T A 3: 59,226,875 (GRCm39) N2266I probably damaging Het
Krtap15-1 A G 16: 88,625,982 (GRCm39) probably null Het
Lrp1 T C 10: 127,408,423 (GRCm39) D1751G probably damaging Het
Madd A T 2: 90,992,521 (GRCm39) D1050E probably benign Het
Man1c1 C T 4: 134,308,147 (GRCm39) G323R probably damaging Het
Mgll A G 6: 88,800,357 (GRCm39) E252G probably benign Het
Muc2 A G 7: 141,278,965 (GRCm39) N145S possibly damaging Het
Nek10 A G 14: 14,853,965 (GRCm38) T384A probably benign Het
Nexn T C 3: 151,952,832 (GRCm39) E310G probably damaging Het
Nol10 T C 12: 17,452,108 (GRCm39) L354P probably damaging Het
Npy4r T C 14: 33,868,872 (GRCm39) R139G probably damaging Het
Nup160 A G 2: 90,530,518 (GRCm39) E463G probably damaging Het
Or14c44 T C 7: 86,062,209 (GRCm39) V213A probably benign Het
Or52a33 C T 7: 103,288,909 (GRCm39) G146D probably damaging Het
Or8j3c G A 2: 86,253,940 (GRCm39) L27F probably benign Het
Pdzd8 A T 19: 59,289,077 (GRCm39) N774K possibly damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pot1a T C 6: 25,752,497 (GRCm39) probably null Het
Ppip5k1 T A 2: 121,178,052 (GRCm39) E283D probably benign Het
Ptpn2 A C 18: 67,808,862 (GRCm39) I318R possibly damaging Het
Raph1 A G 1: 60,529,027 (GRCm39) F745L unknown Het
Rgs19 C T 2: 181,331,541 (GRCm39) V88I probably benign Het
Ripk4 A G 16: 97,544,449 (GRCm39) S733P probably benign Het
Rprd1b T A 2: 157,870,899 (GRCm39) W29R probably damaging Het
Rtkn A G 6: 83,112,943 (GRCm39) N5S probably damaging Het
Sh3bp5l A T 11: 58,232,128 (GRCm39) Q131L probably damaging Het
Slain2 T A 5: 73,131,891 (GRCm39) F461I possibly damaging Het
Stk24 A T 14: 121,545,434 (GRCm39) L108Q probably damaging Het
Syne3 TC T 12: 104,927,830 (GRCm39) probably null Het
Tapbpl A T 6: 125,203,558 (GRCm39) V374E probably damaging Het
Tax1bp1 A G 6: 52,698,341 (GRCm39) I18V possibly damaging Het
Tecta T A 9: 42,299,048 (GRCm39) I233F probably damaging Het
Tet3 A G 6: 83,381,038 (GRCm39) S377P probably benign Het
Uty A G Y: 1,154,262 (GRCm39) S721P probably benign Het
Wnk4 C A 11: 101,155,979 (GRCm39) T412K possibly damaging Het
Zdhhc11 G T 13: 74,140,216 (GRCm39) V336L probably benign Het
Zfp605 T A 5: 110,275,826 (GRCm39) S315T probably damaging Het
Zfp746 A G 6: 48,041,811 (GRCm39) L305P probably damaging Het
Other mutations in Ncoa2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACATGTTAGCAGCCAGGAGTC -3'
(R):5'- GACTAACTCTGTCTCCCACG -3'

Sequencing Primer
(F):5'- CCAATAGTTCCTTCGTCATTAACAAG -3'
(R):5'- GCTACAGCATGTTCTCACAGCAG -3'
Posted On 2019-06-26