Incidental Mutation 'R2437:Ncoa2'
ID 249611
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 040398-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R2437 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 13209329-13444307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13218584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1415 (T1415I)
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 damaging
Transcript: ENSMUST00000006037
AA Change: T1415I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886
AA Change: T1415I

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 possibly damaging
Transcript: ENSMUST00000068304
AA Change: T1346I

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886
AA Change: T1346I

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 possibly damaging
Transcript: ENSMUST00000081713
AA Change: T1346I

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886
AA Change: T1346I

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: ENSMUST00000133232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185275
Meta Mutation Damage Score 0.1435 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,031,075 (GRCm39) *635W probably null Het
Anxa2 A G 9: 69,397,046 (GRCm39) Y317C probably damaging Het
Arhgef26 T C 3: 62,340,002 (GRCm39) S675P probably damaging Het
Bltp1 T A 3: 37,012,834 (GRCm39) probably null Het
Camk2d A G 3: 126,628,277 (GRCm39) N53S probably damaging Het
Carns1 A T 19: 4,215,782 (GRCm39) M800K possibly damaging Het
Ces1f A T 8: 93,996,767 (GRCm39) probably null Het
Chrne T A 11: 70,506,086 (GRCm39) D426V possibly damaging Het
Cntfr T C 4: 41,671,035 (GRCm39) T43A probably damaging Het
Cntn5 A T 9: 10,048,758 (GRCm39) C63* probably null Het
Col12a1 G A 9: 79,599,501 (GRCm39) T884I probably damaging Het
Dnah5 T C 15: 28,307,537 (GRCm39) probably null Het
Dnajc2 A T 5: 21,965,389 (GRCm39) S537R probably benign Het
Dnajc25 T C 4: 59,020,234 (GRCm39) I100T probably damaging Het
Ephx1 C A 1: 180,823,661 (GRCm39) G149C probably damaging Het
Fam163b G T 2: 27,002,698 (GRCm39) P100T probably damaging Het
Fbxl9 A G 8: 106,039,675 (GRCm39) probably null Het
Fgd5 A T 6: 92,039,850 (GRCm39) R1017* probably null Het
Fibin A T 2: 110,192,848 (GRCm39) L98Q probably damaging Het
Fndc3b A T 3: 27,505,481 (GRCm39) L929H probably damaging Het
Frem1 T A 4: 82,918,410 (GRCm39) S512C probably damaging Het
Gm4922 T A 10: 18,659,829 (GRCm39) M298L probably benign Het
Gstm2 G A 3: 107,891,369 (GRCm39) probably benign Het
Gtf3c2 A G 5: 31,317,042 (GRCm39) probably null Het
Ibtk A C 9: 85,590,178 (GRCm39) L1026V probably benign Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Inpp4a T C 1: 37,432,037 (GRCm39) S146P probably damaging Het
Kcnab1 G T 3: 65,264,435 (GRCm39) probably benign Het
Mgat4c T C 10: 102,224,436 (GRCm39) S217P probably damaging Het
Mr1 T C 1: 155,008,277 (GRCm39) M233V probably benign Het
Oasl2 G A 5: 115,049,357 (GRCm39) D486N probably benign Het
Or1j14 A T 2: 36,418,258 (GRCm39) Y278F probably damaging Het
Or9a7 G A 6: 40,521,856 (GRCm39) T19I probably benign Het
Or9s27 T C 1: 92,516,688 (GRCm39) I212T possibly damaging Het
Pcnx4 T C 12: 72,588,587 (GRCm39) F132L probably damaging Het
Pde5a T A 3: 122,636,702 (GRCm39) L717Q probably damaging Het
Peli2 A T 14: 48,465,389 (GRCm39) probably benign Het
Phf14 A G 6: 11,962,657 (GRCm39) S435G probably damaging Het
Plekhg1 T A 10: 3,913,564 (GRCm39) H1095Q probably damaging Het
Plekhh2 A G 17: 84,893,907 (GRCm39) probably null Het
Plekho1 T G 3: 95,899,497 (GRCm39) N99H probably damaging Het
Plxnc1 T A 10: 94,742,395 (GRCm39) K457N probably benign Het
Ppp1r3a T C 6: 14,718,322 (GRCm39) E864G probably benign Het
Prkab2 T A 3: 97,574,715 (GRCm39) L237Q probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptger3 T A 3: 157,273,207 (GRCm39) C185S probably damaging Het
Ptprk T C 10: 28,230,709 (GRCm39) Y267H probably damaging Het
Pum2 A G 12: 8,794,654 (GRCm39) I715V probably benign Het
R3hdm1 T C 1: 128,114,573 (GRCm39) V518A probably damaging Het
Rab3d T C 9: 21,827,147 (GRCm39) I28V probably damaging Het
Rad54b T C 4: 11,606,272 (GRCm39) L560P probably damaging Het
Rgs20 A G 1: 5,140,370 (GRCm39) probably null Het
Sesn1 T A 10: 41,781,315 (GRCm39) L460H probably damaging Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Slco6c1 T A 1: 96,990,201 (GRCm39) H663L probably benign Het
Snx13 T A 12: 35,132,926 (GRCm39) C63S probably benign Het
Spmip4 T A 6: 50,560,959 (GRCm39) D212V probably damaging Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Syncrip A G 9: 88,361,620 (GRCm39) probably benign Het
Taf15 A G 11: 83,395,579 (GRCm39) probably benign Het
Tbc1d8 T C 1: 39,444,368 (GRCm39) probably null Het
Tgm4 T A 9: 122,877,614 (GRCm39) C205* probably null Het
Tmem212 A T 3: 27,940,628 (GRCm39) L63Q possibly damaging Het
Tmem63a G A 1: 180,790,054 (GRCm39) probably null Het
Trpm5 C A 7: 142,636,298 (GRCm39) V525L probably benign Het
Ttn A G 2: 76,537,171 (GRCm39) L34919P probably damaging Het
Ttn T C 2: 76,694,619 (GRCm39) probably benign Het
Tuba4a T C 1: 75,194,069 (GRCm39) I4V possibly damaging Het
Ubr4 A G 4: 139,200,853 (GRCm39) D4679G possibly damaging Het
Usp2 T G 9: 44,003,445 (GRCm39) V448G probably damaging Het
Usp3 A G 9: 66,453,024 (GRCm39) probably null Het
Zfp341 T A 2: 154,470,721 (GRCm39) V246E 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
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'- CCAACATGTTAGCAGCCAGGAG -3'
(R):5'- TCCCACGCTACAGCATGTTC -3'

Sequencing Primer
(F):5'- ATGTTAGCAGCCAGGAGTCCTTC -3'
(R):5'- AGCATGTTCTCACAGCAGTC -3'
Posted On 2014-11-12