Incidental Mutation 'R9084:Ncoa2'
ID 690438
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 068903-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R9084 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 13209329-13444307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 13244653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 682 (S682A)
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: S682A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886
AA Change: S682A

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 damaging
Transcript: ENSMUST00000068304
AA Change: S682A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886
AA Change: S682A

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 damaging
Transcript: ENSMUST00000081713
AA Change: S682A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886
AA Change: S682A

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: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,892,016 (GRCm39) K93E probably damaging Het
Adam21 T C 12: 81,606,160 (GRCm39) Y534C probably damaging Het
Add1 A G 5: 34,763,186 (GRCm39) T125A probably damaging Het
Ank3 T C 10: 69,786,879 (GRCm39) V981A probably benign Het
Ankrd34b T A 13: 92,575,720 (GRCm39) D317E probably benign Het
Arhgap9 T C 10: 127,158,114 (GRCm39) S44P possibly damaging Het
Atg7 T C 6: 114,678,896 (GRCm39) S370P probably damaging Het
Atp1b2 T C 11: 69,492,388 (GRCm39) D224G probably damaging Het
C1qtnf6 T C 15: 78,409,283 (GRCm39) Y188C probably damaging Het
Col22a1 T C 15: 71,691,929 (GRCm39) D1297G unknown Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Csmd1 T C 8: 16,138,325 (GRCm39) I1576V probably benign Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dusp6 T C 10: 99,099,692 (GRCm39) S47P probably benign Het
Fam163a T A 1: 155,955,730 (GRCm39) I21F probably damaging Het
Fer1l5 A G 1: 36,429,619 (GRCm39) D457G probably benign Het
Fyn C T 10: 39,402,845 (GRCm39) R206C probably damaging Het
Git2 G T 5: 114,902,515 (GRCm39) H172Q probably damaging Het
Gm21698 T A 5: 26,190,244 (GRCm39) H151L probably damaging Het
Gm4924 T A 10: 82,213,953 (GRCm39) C584S unknown Het
Hspb8 A G 5: 116,560,492 (GRCm39) L16P probably benign Het
Ipo9 T C 1: 135,334,563 (GRCm39) H282R probably benign Het
Kcnn1 GTCCTCCTCCTCCTCCTCCTC GTCCTCCTCCTCCTCCTC 8: 71,307,810 (GRCm39) probably benign Het
Kmt2a T C 9: 44,740,130 (GRCm39) D1871G unknown Het
Lrrk2 A T 15: 91,634,469 (GRCm39) Q1411L Het
Med13 A G 11: 86,191,621 (GRCm39) S914P probably damaging Het
Med15 T C 16: 17,471,072 (GRCm39) H706R probably damaging Het
Mfsd2a T C 4: 122,843,994 (GRCm39) Y325C probably damaging Het
Mrpl9 T A 3: 94,354,558 (GRCm39) probably benign Het
Nfe2l1 A T 11: 96,710,957 (GRCm39) M424K probably damaging Het
Nid1 T C 13: 13,652,925 (GRCm39) probably null Het
Or1f19 T G 16: 3,410,617 (GRCm39) M119R probably damaging Het
Or4f7 A G 2: 111,644,996 (GRCm39) L25P probably damaging Het
Or4k15b T C 14: 50,271,916 (GRCm39) I315V probably benign Het
Or6c69c A T 10: 129,910,941 (GRCm39) M221L probably benign Het
Or6c69c G C 10: 129,910,969 (GRCm39) S230T probably benign Het
Or6d15 C T 6: 116,559,232 (GRCm39) R225H probably benign Het
Or8g33 A T 9: 39,337,521 (GRCm39) V282E probably damaging Het
Pcnt T C 10: 76,235,826 (GRCm39) D1385G probably benign Het
Pcx A G 19: 4,669,868 (GRCm39) Y846C probably damaging Het
Prune2 A G 19: 17,097,741 (GRCm39) M1082V probably damaging Het
Ptprm A C 17: 67,263,948 (GRCm39) V433G possibly damaging Het
Pvr G T 7: 19,650,937 (GRCm39) Q196K possibly damaging Het
Reck A G 4: 43,922,809 (GRCm39) probably benign Het
Ripk2 T C 4: 16,123,795 (GRCm39) D460G probably damaging Het
Ryr2 T C 13: 11,616,724 (GRCm39) D3898G probably damaging Het
Skint8 A G 4: 111,794,210 (GRCm39) H200R probably benign Het
Slamf1 A T 1: 171,602,522 (GRCm39) D83V probably damaging Het
Snx25 T C 8: 46,521,203 (GRCm39) *143W probably null Het
Spata31d1c A G 13: 65,182,959 (GRCm39) D167G probably benign Het
Sting1 A T 18: 35,869,155 (GRCm39) I178N probably damaging Het
Syne1 T A 10: 5,289,240 (GRCm39) D1420V probably benign Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tmem116 A G 5: 121,627,387 (GRCm39) S211G Het
Tmprss6 C T 15: 78,338,417 (GRCm39) V310M probably damaging Het
Ttn A G 2: 76,612,722 (GRCm39) I17119T probably damaging Het
Tubb1 T A 2: 174,299,197 (GRCm39) M293K possibly damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Uncx T C 5: 139,529,753 (GRCm39) M2T possibly damaging Het
Washc4 T C 10: 83,422,499 (GRCm39) F943L possibly damaging Het
Xkr9 G A 1: 13,742,733 (GRCm39) C6Y probably benign Het
Zfp458 A T 13: 67,407,633 (GRCm39) V74E probably benign 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
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
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'- TGTCCAGTCGCTCGAGTTTG -3'
(R):5'- AATGATTCCAGCATGCCCCAG -3'

Sequencing Primer
(F):5'- GGGGTTATTTCCGGTAAACCAATATC -3'
(R):5'- CAGCGGGGACAGGGCTG -3'
Posted On 2021-12-30