Incidental Mutation 'R9792:Ncoa2'
ID 734652
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R9792 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 13209329-13444307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 13260355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 107 (Q107K)
Ref Sequence ENSEMBL: ENSMUSP00000006037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006037] [ENSMUST00000068304] [ENSMUST00000081713] [ENSMUST00000145280]
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 possibly damaging
Transcript: ENSMUST00000006037
AA Change: Q107K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886
AA Change: Q107K

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: Q107K

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886
AA Change: Q107K

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: Q107K

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886
AA Change: Q107K

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: ENSMUST00000145280
AA Change: Q107K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116641
Gene: ENSMUSG00000005886
AA Change: Q107K

DomainStartEndE-ValueType
HLH 32 89 2.25e-8 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,719 (GRCm39) D99G unknown Het
Add2 A T 6: 86,078,135 (GRCm39) probably null Het
Afap1l1 T C 18: 61,874,822 (GRCm39) D453G possibly damaging Het
Agrn A G 4: 156,261,129 (GRCm39) V656A probably benign Het
Alpk3 T C 7: 80,750,881 (GRCm39) probably null Het
Ano1 A T 7: 144,175,434 (GRCm39) W495R probably damaging Het
Apc T A 18: 34,447,628 (GRCm39) L1508Q probably damaging Het
Bbs12 C T 3: 37,374,224 (GRCm39) T224I possibly damaging Het
Cald1 A T 6: 34,723,071 (GRCm39) M52L Het
Calhm6 T C 10: 34,002,544 (GRCm39) I180V probably damaging Het
Ccdc9b T C 2: 118,587,784 (GRCm39) S517G unknown Het
Cdk11b T A 4: 155,732,378 (GRCm39) H510Q unknown Het
Cdk12 T A 11: 98,102,051 (GRCm39) D636E unknown Het
Cfap53 A G 18: 74,438,741 (GRCm39) D306G probably benign Het
Cnnm1 T C 19: 43,482,252 (GRCm39) probably null Het
Cnrip1 G A 11: 17,004,812 (GRCm39) A121T probably benign Het
Cntnap5c A T 17: 58,409,192 (GRCm39) T477S probably benign Het
Cyp2c54 G C 19: 40,034,525 (GRCm39) P382A probably damaging Het
Cyp4a30b A G 4: 115,316,167 (GRCm39) T298A probably benign Het
Dmkn A T 7: 30,464,845 (GRCm39) N273Y unknown Het
Dsp A G 13: 38,379,494 (GRCm39) T2080A possibly damaging Het
Ermard T C 17: 15,281,441 (GRCm39) L617P probably damaging Het
Grik3 A G 4: 125,526,315 (GRCm39) T183A probably damaging Het
Gstt1 T C 10: 75,634,391 (GRCm39) probably benign Het
Hao1 T A 2: 134,372,552 (GRCm39) Y152F possibly damaging Het
Hdac7 T C 15: 97,698,671 (GRCm39) T629A possibly damaging Het
Hmcn1 G A 1: 150,608,689 (GRCm39) P1498S possibly damaging Het
Iqcf3 T A 9: 106,434,714 (GRCm39) K41N probably benign Het
Lrriq3 T C 3: 154,893,313 (GRCm39) M338T probably benign Het
Ltbp2 A T 12: 84,876,128 (GRCm39) I493N probably damaging Het
Map1a T C 2: 121,121,304 (GRCm39) probably null Het
Mzf1 T C 7: 12,786,131 (GRCm39) T267A probably benign Het
N4bp2l2 A G 5: 150,584,897 (GRCm39) I19T probably benign Het
Nin A T 12: 70,094,009 (GRCm39) I605N Het
Nr1h4 T G 10: 89,314,651 (GRCm39) T286P probably benign Het
Nsd2 A G 5: 34,003,489 (GRCm39) D213G possibly damaging Het
Nuggc T C 14: 65,847,345 (GRCm39) S131P probably damaging Het
Or4a78 T C 2: 89,497,811 (GRCm39) I140V probably benign Het
Or4f14c T C 2: 111,941,330 (GRCm39) H89R probably benign Het
Or52m1 G A 7: 102,289,788 (GRCm39) V112I probably benign Het
Or5b113 A T 19: 13,342,514 (GRCm39) H174L probably damaging Het
Or8h9 T A 2: 86,789,119 (GRCm39) I228F probably damaging Het
Otud7a C T 7: 63,378,845 (GRCm39) R232W probably damaging Het
Pacsin3 C A 2: 91,094,160 (GRCm39) A363D probably benign Het
Pcdh17 C T 14: 84,770,350 (GRCm39) R943* probably null Het
Pcnx2 A G 8: 126,534,820 (GRCm39) F1270L probably damaging Het
Pds5a T C 5: 65,795,989 (GRCm39) M634V probably benign Het
Pkd1 A G 17: 24,800,172 (GRCm39) T2978A probably benign Het
Pkhd1l1 T C 15: 44,406,983 (GRCm39) S2407P probably benign Het
Polr2i T C 7: 29,932,190 (GRCm39) Y44H probably damaging Het
Ppip5k2 A T 1: 97,671,822 (GRCm39) Y489* probably null Het
Ppp3r1 C A 11: 17,132,117 (GRCm39) A5E probably benign Het
Pramel60 C A 5: 95,339,810 (GRCm39) H110N probably damaging Het
Rasgrp1 T C 2: 117,118,429 (GRCm39) D520G probably benign Het
Rex2 A C 4: 147,142,039 (GRCm39) N176H probably damaging Het
Rsl1d1 T C 16: 11,017,300 (GRCm39) N194S possibly damaging Het
Sidt2 A G 9: 45,850,563 (GRCm39) Y851H probably damaging Het
Slc5a8 T C 10: 88,757,591 (GRCm39) I527T possibly damaging Het
Slc6a7 C A 18: 61,138,866 (GRCm39) R214L probably benign Het
Stx7 T C 10: 24,057,475 (GRCm39) L167P probably damaging Het
Tas2r120 A T 6: 132,634,528 (GRCm39) K203N possibly damaging Het
Tbc1d22a T C 15: 86,119,839 (GRCm39) L81P probably damaging Het
Tert A G 13: 73,792,442 (GRCm39) E903G probably benign Het
Tpm4 A G 8: 72,905,663 (GRCm39) I248V probably benign Het
Trim42 A G 9: 97,245,429 (GRCm39) I457T probably damaging Het
Ttc23l T A 15: 10,537,731 (GRCm39) I180F probably benign Het
Usp9y T C Y: 1,364,679 (GRCm39) M1045V probably benign Het
Vim A G 2: 13,579,598 (GRCm39) D119G probably benign Het
Vmn1r82 A T 7: 12,039,083 (GRCm39) M119L probably benign Het
Vmn2r118 T C 17: 55,899,496 (GRCm39) T803A probably damaging Het
Vwa3a C A 7: 120,383,307 (GRCm39) A636D probably damaging Het
Zbtb7a G A 10: 80,980,378 (GRCm39) A191T probably benign Het
Zfp819 A G 7: 43,261,519 (GRCm39) H62R possibly 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
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
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'- ATACAGAGAATGTTGCTGGGGC -3'
(R):5'- CAGTTGGCTGCACTCTAATTC -3'

Sequencing Primer
(F):5'- GCACAGCAATGTGGATTCTC -3'
(R):5'- GGCTGCACTCTAATTCATTCATAGG -3'
Posted On 2022-11-14