Incidental Mutation 'R5109:Ncoa2'
ID 393706
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 042697-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R5109 (G1)
Quality Score 162
Status Validated
Chromosome 1
Chromosomal Location 13209329-13444307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13257070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 143 (V143A)
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 probably damaging
Transcript: ENSMUST00000006037
AA Change: V143A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006037
Gene: ENSMUSG00000005886
AA Change: V143A

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: V143A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069509
Gene: ENSMUSG00000005886
AA Change: V143A

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: V143A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080413
Gene: ENSMUSG00000005886
AA Change: V143A

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: ENSMUST00000124088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143603
Predicted Effect probably benign
Transcript: ENSMUST00000145280
SMART Domains Protein: ENSMUSP00000116641
Gene: ENSMUSG00000005886

DomainStartEndE-ValueType
HLH 32 89 2.25e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147927
Meta Mutation Damage Score 0.6716 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 95% (78/82)
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
Ankrd17 T C 5: 90,391,395 (GRCm39) S1841G possibly damaging Het
Anxa10 T C 8: 62,516,093 (GRCm39) E193G possibly damaging Het
Ap3d1 T C 10: 80,545,284 (GRCm39) S1056G probably benign Het
Apbb1 T C 7: 105,214,242 (GRCm39) N62D probably damaging Het
Apobec2 A T 17: 48,730,022 (GRCm39) Y215N probably damaging Het
Apobec2 T A 17: 48,730,024 (GRCm39) Y214F probably damaging Het
Appl2 A T 10: 83,436,871 (GRCm39) V630E probably benign Het
Bud23 T C 5: 135,089,877 (GRCm39) probably benign Het
Cacna1b A T 2: 24,580,797 (GRCm39) M683K possibly damaging Het
Cbfa2t2 T A 2: 154,373,293 (GRCm39) D187E probably damaging Het
Cfap54 G T 10: 92,773,753 (GRCm39) F96L probably benign Het
Cimap1a A T 7: 140,429,461 (GRCm39) S197C probably benign Het
Crebbp A G 16: 3,906,295 (GRCm39) probably benign Het
Crocc C T 4: 140,755,722 (GRCm39) R1102Q probably damaging Het
Dcaf12 T C 4: 41,298,329 (GRCm39) D273G possibly damaging Het
Dchs1 T C 7: 105,414,221 (GRCm39) T865A probably benign Het
Dhfr A T 13: 92,491,788 (GRCm39) I8F probably damaging Het
Dnaja2 A T 8: 86,279,887 (GRCm39) F97L possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Doc2b T C 11: 75,667,967 (GRCm39) D261G probably benign Het
Ear1 A G 14: 44,056,485 (GRCm39) Y128H probably benign Het
Elac2 T A 11: 64,883,142 (GRCm39) I171N probably damaging Het
Entpd3 C A 9: 120,395,380 (GRCm39) N454K possibly damaging Het
Flrt3 A G 2: 140,502,663 (GRCm39) S322P possibly damaging Het
Fn1 C T 1: 71,688,394 (GRCm39) C170Y probably damaging Het
Gabbr1 T A 17: 37,382,920 (GRCm39) probably benign Het
Gm7247 T G 14: 51,602,774 (GRCm39) S37A probably damaging Het
Gm8775 T A 3: 4,277,008 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gria4 A C 9: 4,472,168 (GRCm39) N440K probably damaging Het
H2-T22 T A 17: 36,350,113 (GRCm39) R334* probably null Het
Ift172 T C 5: 31,423,330 (GRCm39) D817G probably benign Het
Igkv9-124 T A 6: 67,919,348 (GRCm39) R21S possibly damaging Het
Itgam G A 7: 127,712,390 (GRCm39) V846I probably benign Het
Kif11 T A 19: 37,373,063 (GRCm39) M94K possibly damaging Het
Krtcap2 T C 3: 89,154,085 (GRCm39) V2A probably benign Het
Lrrc47 A G 4: 154,101,933 (GRCm39) D400G probably damaging Het
Man2a1 T A 17: 65,059,443 (GRCm39) V1110E probably benign Het
Mfsd9 T A 1: 40,813,365 (GRCm39) I317F probably damaging Het
Mindy4 A T 6: 55,193,730 (GRCm39) probably null Het
Mrpl53 A G 6: 83,086,541 (GRCm39) T82A probably damaging Het
Myo3b A G 2: 69,925,637 (GRCm39) K35E possibly damaging Het
Nalcn A G 14: 123,515,650 (GRCm39) V1717A possibly damaging Het
Ndufa9 A C 6: 126,809,520 (GRCm39) probably null Het
Or10ag60 G A 2: 87,438,319 (GRCm39) G196R possibly damaging Het
Or10ag60 G A 2: 87,437,755 (GRCm39) A8T possibly damaging Het
Or12e9 A G 2: 87,201,878 (GRCm39) M1V probably null Het
Or5k17 A G 16: 58,746,422 (GRCm39) S171P probably benign Het
Or5p55 T C 7: 107,567,104 (GRCm39) S167P probably benign Het
Or6c202 T C 10: 128,996,106 (GRCm39) Y249C probably damaging Het
Or7g28 A T 9: 19,272,438 (GRCm39) I71N probably damaging Het
Or9g8 G A 2: 85,607,668 (GRCm39) V247M probably damaging Het
Pde4b G T 4: 102,458,741 (GRCm39) A466S probably damaging Het
Pfkfb3 A T 2: 11,491,162 (GRCm39) probably benign Het
Ppp1r21 A G 17: 88,866,268 (GRCm39) K355E probably damaging Het
Psme4 T A 11: 30,741,095 (GRCm39) Y90* probably null Het
Rbms1 G A 2: 60,612,284 (GRCm39) L161F probably damaging Het
Rdh16f2 A G 10: 127,702,672 (GRCm39) D83G probably damaging Het
Sec16b C T 1: 157,392,361 (GRCm39) R910* probably null Het
Sema4c CTGGGCTT C 1: 36,591,381 (GRCm39) probably null Het
Spata31e5 T C 1: 28,816,636 (GRCm39) I465M possibly damaging Het
Stambp A G 6: 83,540,803 (GRCm39) probably null Het
Tcf21 T C 10: 22,695,558 (GRCm39) N82S probably damaging Het
Tlr2 A T 3: 83,745,030 (GRCm39) V351D probably damaging Het
Tmem39a G A 16: 38,411,326 (GRCm39) G359D probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r17 C A 5: 109,577,342 (GRCm39) F464L probably benign Het
Vmn2r49 T A 7: 9,710,204 (GRCm39) T843S probably benign Het
Vmn2r7 T C 3: 64,598,088 (GRCm39) D823G probably null Het
Wrnip1 T A 13: 33,000,319 (GRCm39) L442Q probably damaging Het
Zbtb38 G T 9: 96,569,062 (GRCm39) S674Y probably damaging Het
Zfp639 T G 3: 32,574,585 (GRCm39) 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
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
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'- GGTTGCTGACATGCCTATGAC -3'
(R):5'- CACTTCTATTTCCCCAGAGAACATG -3'

Sequencing Primer
(F):5'- TATGACAGACACAACAGGCTTTACTG -3'
(R):5'- AACATGTGTTCATTGTTTCTGAAGG -3'
Posted On 2016-06-15