Incidental Mutation 'R7565:Ncoa2'
ID 585345
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 045710-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R7565 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 13209329-13444307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13218600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 1410 (S1410G)
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: S1410G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886
AA Change: S1410G

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: S1341G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886
AA Change: S1341G

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: S1341G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886
AA Change: S1341G

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
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,452,750 (GRCm39) Y63F possibly damaging Het
Abi1 A T 2: 22,836,596 (GRCm39) I421N probably benign Het
Ahnak A G 19: 8,993,520 (GRCm39) I4935V probably benign Het
Atg12 A C 18: 46,867,551 (GRCm39) V131G probably damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG 3: 95,795,456 (GRCm39) probably benign Het
BC028528 CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT 3: 95,795,450 (GRCm39) probably benign Het
Bcl3 C T 7: 19,546,419 (GRCm39) V139I probably damaging Het
Bloc1s4 T A 5: 36,905,689 (GRCm39) M101L probably benign Het
Bmp6 C T 13: 38,530,233 (GRCm39) Q109* probably null Het
Cabyr C T 18: 12,877,656 (GRCm39) T28I possibly damaging Het
Catsper3 T C 13: 55,932,538 (GRCm39) S22P probably benign Het
Catsperg2 A T 7: 29,412,406 (GRCm39) C395S probably null Het
Cd101 T C 3: 100,926,108 (GRCm39) T208A probably benign Het
Chaf1a A G 17: 56,371,148 (GRCm39) S678G probably benign Het
Chrna2 A C 14: 66,388,484 (GRCm39) I500L probably benign Het
Cln6 C T 9: 62,758,039 (GRCm39) T266I possibly damaging Het
Col17a1 T A 19: 47,659,963 (GRCm39) T330S possibly damaging Het
Cyp2d40 A G 15: 82,644,975 (GRCm39) V225A unknown Het
Dnah10 A G 5: 124,876,095 (GRCm39) N2645D probably damaging Het
Dph5 T A 3: 115,686,446 (GRCm39) V74D probably benign Het
Dthd1 A T 5: 63,000,435 (GRCm39) I586L probably damaging Het
Elane G A 10: 79,722,879 (GRCm39) R95Q probably benign Het
Fbxw17 A G 13: 50,587,398 (GRCm39) T453A probably damaging Het
Fpr3 C A 17: 18,191,227 (GRCm39) T166K probably damaging Het
Fryl A G 5: 73,191,063 (GRCm39) I2724T probably benign Het
Fsip2 C T 2: 82,779,856 (GRCm39) R201C probably damaging Het
Gm14496 A G 2: 181,642,630 (GRCm39) N767S probably damaging Het
Gm14496 T A 2: 181,633,050 (GRCm39) F11Y possibly damaging Het
Hyal4 T A 6: 24,765,933 (GRCm39) M429K possibly damaging Het
Itgad A T 7: 127,782,187 (GRCm39) T208S probably damaging Het
Itpr3 T G 17: 27,329,862 (GRCm39) L1552R probably benign Het
Kcp C T 6: 29,499,186 (GRCm39) C292Y probably damaging Het
Kdr T C 5: 76,109,503 (GRCm39) K958R probably damaging Het
Klhl22 T A 16: 17,607,148 (GRCm39) W485R probably damaging Het
Ldhb T A 6: 142,438,245 (GRCm39) I271F possibly damaging Het
Lmo7 A G 14: 102,122,737 (GRCm39) R309G probably damaging Het
Marco C A 1: 120,402,395 (GRCm39) C517F probably damaging Het
Mpdz G A 4: 81,221,891 (GRCm39) T1423I probably benign Het
Ncor1 T C 11: 62,292,091 (GRCm39) N283S probably damaging Het
Nlrp14 T A 7: 106,781,094 (GRCm39) L97* probably null Het
Olfm3 T G 3: 114,916,393 (GRCm39) S442A probably damaging Het
Or10p1 A G 10: 129,444,029 (GRCm39) V107A possibly damaging Het
Or14j10 T C 17: 37,935,392 (GRCm39) I45V probably damaging Het
Or2ag12 T C 7: 106,277,333 (GRCm39) Y120C probably damaging Het
Or5a1 T A 19: 12,097,375 (GRCm39) S234C probably benign Het
Or5an10 T C 19: 12,276,212 (GRCm39) T95A probably benign Het
Pank4 G A 4: 155,065,007 (GRCm39) V769I probably benign Het
Pdgfrb G A 18: 61,216,336 (GRCm39) D1065N probably damaging Het
Ppp1r12a G A 10: 108,104,501 (GRCm39) S911N probably benign Het
Prdx6b A G 2: 80,123,334 (GRCm39) T48A probably damaging Het
Pttg1ip A G 10: 77,432,870 (GRCm39) K166E probably damaging Het
Rabgap1l T C 1: 160,078,987 (GRCm39) D9G Het
Rpl13a C T 7: 44,776,466 (GRCm39) G69S probably benign Het
Rps6ka5 T A 12: 100,582,342 (GRCm39) I177F probably damaging Het
Rttn C A 18: 89,078,603 (GRCm39) A1343E probably damaging Het
Ryr2 C T 13: 11,575,539 (GRCm39) V4820I possibly damaging Het
Slc12a7 A G 13: 73,938,891 (GRCm39) I223V possibly damaging Het
Slc9a3 G A 13: 74,305,813 (GRCm39) V277M probably damaging Het
Spata13 A T 14: 60,989,298 (GRCm39) Y988F probably damaging Het
Spata31e2 A T 1: 26,724,351 (GRCm39) N276K probably benign Het
Spo11 A G 2: 172,833,864 (GRCm39) I329V possibly damaging Het
Tcp11l2 A T 10: 84,422,998 (GRCm39) D63V probably damaging Het
Tdrd3 G A 14: 87,744,029 (GRCm39) W659* probably null Het
Thnsl2 T C 6: 71,118,311 (GRCm39) D39G probably benign Het
Thumpd1 A T 7: 119,316,085 (GRCm39) L288* probably null Het
Tram1l1 T C 3: 124,115,556 (GRCm39) Y239H probably damaging Het
Usp38 T A 8: 81,708,601 (GRCm39) E992D probably damaging Het
Usp45 A G 4: 21,784,790 (GRCm39) T159A probably benign Het
Vmn1r218 C T 13: 23,320,830 (GRCm39) T59I probably benign Het
Vmn2r70 T C 7: 85,214,499 (GRCm39) I218V probably benign Het
Xpr1 T C 1: 155,183,488 (GRCm39) I461V probably benign Het
Ydjc T C 16: 16,964,869 (GRCm39) L8P probably damaging Het
Yme1l1 A T 2: 23,050,232 (GRCm39) N21I possibly damaging Het
Zfhx4 T C 3: 5,455,426 (GRCm39) L1140P 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
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'- GGAGTCCTTCCCAATAGTTCC -3'
(R):5'- AGACTGCCTCAGCTTACCATC -3'

Sequencing Primer
(F):5'- CCAATAGTTCCTTCGTCATTAACAAG -3'
(R):5'- AGCTTACCATCAGACTAACTCTGTC -3'
Posted On 2019-10-17