Incidental Mutation 'R2034:Ncoa2'
ID 224255
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 040041-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R2034 (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 13235207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 909 (S909G)
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: S909G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886
AA Change: S909G

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
SMART Domains Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886

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
SMART Domains Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886

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 noncoding transcript
Transcript: ENSMUST00000143603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147927
Meta Mutation Damage Score 0.0705 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (71/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T C 11: 69,791,385 (GRCm39) I65V probably benign Het
Abca13 A G 11: 9,242,628 (GRCm39) N1497S possibly damaging Het
Afmid C A 11: 117,726,061 (GRCm39) N184K probably benign Het
Ampd2 A T 3: 107,984,679 (GRCm39) I459N possibly damaging Het
Anapc1 T C 2: 128,490,378 (GRCm39) D1018G possibly damaging Het
Ano9 T A 7: 140,688,048 (GRCm39) I223F probably damaging Het
B3gnt6 A G 7: 97,843,225 (GRCm39) L245P possibly damaging Het
Bag6 G A 17: 35,363,668 (GRCm39) R784Q probably damaging Het
Brca1 C G 11: 101,380,675 (GRCm39) S1786T probably benign Het
Btbd3 T G 2: 138,120,903 (GRCm39) S26A probably benign Het
Cacna1d C A 14: 29,811,820 (GRCm39) V1277L probably damaging Het
Casp12 C T 9: 5,346,491 (GRCm39) T6I probably damaging Het
Col7a1 T C 9: 108,792,075 (GRCm39) V1262A unknown Het
Crh C A 3: 19,748,262 (GRCm39) G127C probably damaging Het
D5Ertd579e A T 5: 36,770,882 (GRCm39) L64* probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddc T A 11: 11,830,456 (GRCm39) I63L probably benign Het
Eif3a C T 19: 60,750,568 (GRCm39) probably benign Het
Fsip2 T A 2: 82,819,838 (GRCm39) N5190K probably benign Het
Gm5420 A G 10: 21,567,512 (GRCm39) noncoding transcript Het
Grb14 A G 2: 64,753,873 (GRCm39) probably benign Het
Gsap A T 5: 21,475,593 (GRCm39) I545F probably damaging Het
Hectd1 A T 12: 51,803,899 (GRCm39) probably null Het
Helz2 G A 2: 180,874,371 (GRCm39) P2041L probably damaging Het
Herc1 G A 9: 66,349,254 (GRCm39) A2038T probably benign Het
Il10 C A 1: 130,951,922 (GRCm39) Q152K probably benign Het
Klrg1 A G 6: 122,256,596 (GRCm39) probably null Het
Lrig2 T C 3: 104,401,408 (GRCm39) T160A probably benign Het
Mmd2 A T 5: 142,560,939 (GRCm39) probably null Het
Mmp2 C T 8: 93,563,540 (GRCm39) S338F probably damaging Het
Nalcn T G 14: 123,521,015 (GRCm39) D1630A probably benign Het
Neb A T 2: 52,170,623 (GRCm39) M1683K possibly damaging Het
Nfe2l3 A G 6: 51,435,350 (GRCm39) I637V possibly damaging Het
Npw G A 17: 24,877,242 (GRCm39) S53F probably damaging Het
Nrbf2 A T 10: 67,111,343 (GRCm39) probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Nup188 T A 2: 30,200,097 (GRCm39) probably benign Het
Or4k15c T C 14: 50,321,440 (GRCm39) M233V probably benign Het
Or5b21 T A 19: 12,839,151 (GRCm39) M4K possibly damaging Het
Parp4 A T 14: 56,871,720 (GRCm39) I1133F probably damaging Het
Pcdhb11 T C 18: 37,555,546 (GRCm39) V292A probably benign Het
Pcnx2 A G 8: 126,545,406 (GRCm39) probably null Het
Phf2 A G 13: 48,971,206 (GRCm39) S489P unknown Het
Pik3r5 T A 11: 68,384,403 (GRCm39) N598K probably damaging Het
Pikfyve A T 1: 65,261,516 (GRCm39) E432D probably damaging Het
Pink1 T C 4: 138,045,343 (GRCm39) I274V possibly damaging Het
Pkhd1 G A 1: 20,270,893 (GRCm39) T3220I probably damaging Het
Plxna2 A G 1: 194,462,902 (GRCm39) I890V probably benign Het
Pomgnt1 T C 4: 116,015,124 (GRCm39) V492A possibly damaging Het
Prp2 G T 6: 132,572,947 (GRCm39) probably null Het
Rabl6 T C 2: 25,475,444 (GRCm39) E543G possibly damaging Het
Rgp1 T A 4: 43,581,605 (GRCm39) probably null Het
Rps6kb2 T C 19: 4,211,106 (GRCm39) T140A probably damaging Het
S100a11 T C 3: 93,433,429 (GRCm39) I91T probably benign Het
Serpine2 A G 1: 79,774,569 (GRCm39) L230P probably damaging Het
Sh3tc2 A G 18: 62,120,737 (GRCm39) D370G probably damaging Het
Sim2 A C 16: 93,886,801 (GRCm39) I43L probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc14a2 A G 18: 78,226,798 (GRCm39) L419P probably damaging Het
Srgap1 C T 10: 121,628,651 (GRCm39) E817K probably damaging Het
Stag3 A G 5: 138,296,263 (GRCm39) E442G possibly damaging Het
Sulf1 A G 1: 12,890,645 (GRCm39) N361S probably damaging Het
Tmco6 A G 18: 36,870,909 (GRCm39) probably null Het
Tmem104 T A 11: 115,134,373 (GRCm39) I303N probably benign Het
Ttll6 G T 11: 96,026,352 (GRCm39) D86Y probably damaging Het
Tut4 C T 4: 108,369,392 (GRCm39) R651W probably damaging Het
Vmn1r120 T G 7: 20,786,883 (GRCm39) E276A possibly damaging Het
Vmn1r64 A G 7: 5,886,988 (GRCm39) M185T probably benign Het
Vmn2r85 A T 10: 130,262,242 (GRCm39) probably benign Het
Vwa3a A T 7: 120,381,868 (GRCm39) K568* probably null 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
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
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'- AACAAGCCCATGGTCAAGTTC -3'
(R):5'- GCTACAGGAGACATTTTCCCTAAAC -3'

Sequencing Primer
(F):5'- CTACCATTTTGATGTGGACGAACAC -3'
(R):5'- GGAGACATTTTCCCTAAACACTAC -3'
Posted On 2014-08-25