Incidental Mutation 'R5631:Ncoa5'
ID 439840
Institutional Source Beutler Lab
Gene Symbol Ncoa5
Ensembl Gene ENSMUSG00000039804
Gene Name nuclear receptor coactivator 5
Synonyms
MMRRC Submission 043282-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5631 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164842277-164876787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164855041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 27 (D27G)
Ref Sequence ENSEMBL: ENSMUSP00000046388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040381] [ENSMUST00000121377] [ENSMUST00000122070] [ENSMUST00000153905]
AlphaFold Q91W39
Predicted Effect possibly damaging
Transcript: ENSMUST00000040381
AA Change: D27G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046388
Gene: ENSMUSG00000039804
AA Change: D27G

DomainStartEndE-ValueType
low complexity region 46 79 N/A INTRINSIC
low complexity region 82 104 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
coiled coil region 163 190 N/A INTRINSIC
SCOP:d1kmma1 195 287 2e-9 SMART
PDB:1V95|A 197 314 3e-79 PDB
low complexity region 324 340 N/A INTRINSIC
low complexity region 367 376 N/A INTRINSIC
low complexity region 395 427 N/A INTRINSIC
low complexity region 440 460 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121377
SMART Domains Protein: ENSMUSP00000113872
Gene: ENSMUSG00000039804

DomainStartEndE-ValueType
PDB:1V95|A 1 34 2e-15 PDB
low complexity region 44 60 N/A INTRINSIC
low complexity region 87 96 N/A INTRINSIC
low complexity region 115 147 N/A INTRINSIC
low complexity region 160 180 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000122070
AA Change: D27G
SMART Domains Protein: ENSMUSP00000113166
Gene: ENSMUSG00000039804
AA Change: D27G

DomainStartEndE-ValueType
low complexity region 46 79 N/A INTRINSIC
low complexity region 82 104 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
coiled coil region 163 190 N/A INTRINSIC
SCOP:d1kmma1 195 287 1e-8 SMART
PDB:1V95|A 197 314 2e-80 PDB
low complexity region 324 340 N/A INTRINSIC
low complexity region 367 376 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127545
Predicted Effect unknown
Transcript: ENSMUST00000153905
AA Change: D27G
SMART Domains Protein: ENSMUSP00000116778
Gene: ENSMUSG00000039804
AA Change: D27G

DomainStartEndE-ValueType
low complexity region 46 68 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]
PHENOTYPE: Male mice heterozygous for a knock-out allele exhibit infertility, impaired glucose homeostasis, liver dysplasia and HCC. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,067,590 (GRCm39) V567L possibly damaging Het
Abraxas1 T G 5: 100,965,840 (GRCm39) Y68S probably damaging Het
Adamtsl1 C T 4: 86,195,160 (GRCm39) Q543* probably null Het
Anapc1 T C 2: 128,499,137 (GRCm39) Y845C possibly damaging Het
Ap4m1 A G 5: 138,173,051 (GRCm39) *98W probably null Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cramp1 T A 17: 25,204,577 (GRCm39) T275S possibly damaging Het
Dock3 T C 9: 106,832,898 (GRCm39) S1038G probably benign Het
Fancm T C 12: 65,160,617 (GRCm39) V1397A probably damaging Het
Fn1 T C 1: 71,629,355 (GRCm39) T2203A probably damaging Het
Gm57858 G C 3: 36,101,026 (GRCm39) Q49E probably damaging Het
Heatr5a T A 12: 52,002,310 (GRCm39) I209F probably benign Het
Hfm1 A G 5: 107,052,629 (GRCm39) S285P probably damaging Het
Hpx A T 7: 105,244,808 (GRCm39) C126S probably damaging Het
Ipo4 A G 14: 55,869,526 (GRCm39) V378A probably damaging Het
Ipo4 C T 14: 55,870,838 (GRCm39) V265I probably benign Het
Kcnv1 T A 15: 44,972,753 (GRCm39) T377S probably damaging Het
Kmt2a A T 9: 44,731,985 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,900,301 (GRCm39) D67G probably damaging Het
Lrrc71 T A 3: 87,646,456 (GRCm39) M535L probably benign Het
Mfhas1 G A 8: 36,055,573 (GRCm39) R16Q probably damaging Het
Mrc1 A T 2: 14,333,383 (GRCm39) K1355* probably null Het
Mrgprf A G 7: 144,862,283 (GRCm39) I282V probably benign Het
Mvb12b G T 2: 33,717,715 (GRCm39) P142Q probably damaging Het
Naip6 T C 13: 100,436,646 (GRCm39) I626V probably benign Het
Nrap T G 19: 56,342,553 (GRCm39) E780A probably benign Het
Oplah T C 15: 76,189,441 (GRCm39) I228V probably benign Het
Or5w1b A T 2: 87,475,952 (GRCm39) S172T probably benign Het
Pkdrej T C 15: 85,704,638 (GRCm39) M433V probably benign Het
Polr3h T A 15: 81,810,113 (GRCm39) probably benign Het
Ppfibp1 T C 6: 146,898,358 (GRCm39) Y105H probably damaging Het
Rplp2 A C 7: 141,031,172 (GRCm39) probably benign Het
Rps6ka4 T C 19: 6,808,345 (GRCm39) probably benign Het
Rspry1 A T 8: 95,355,706 (GRCm39) M1L possibly damaging Het
Runx1 C A 16: 92,492,451 (GRCm39) R64L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc9a5 C T 8: 106,076,141 (GRCm39) H45Y possibly damaging Het
Smc4 T C 3: 68,937,645 (GRCm39) I890T probably benign Het
Smtnl1 T C 2: 84,649,098 (GRCm39) E52G probably benign Het
Stag3 T A 5: 138,294,139 (GRCm39) I319N probably damaging Het
Stt3b G A 9: 115,083,913 (GRCm39) T421I probably benign Het
Thumpd1 A G 7: 119,319,825 (GRCm39) L47P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b T C 14: 16,409,882 (GRCm38) Y850H probably damaging Het
Trim34a A T 7: 103,897,946 (GRCm39) E158V probably damaging Het
Trp53i13 C A 11: 77,400,419 (GRCm39) probably null Het
Ugt3a1 T C 15: 9,361,971 (GRCm39) V249A probably damaging Het
Vmn1r128 G A 7: 21,083,300 (GRCm39) M1I probably null Het
Yars1 T G 4: 129,103,542 (GRCm39) L297R probably damaging Het
Yju2b G T 8: 84,990,510 (GRCm39) Q41K probably damaging Het
Zkscan3 A G 13: 21,578,703 (GRCm39) L176P probably damaging Het
Other mutations in Ncoa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02285:Ncoa5 APN 2 164,844,760 (GRCm39) missense probably damaging 1.00
IGL02624:Ncoa5 APN 2 164,854,981 (GRCm39) missense probably damaging 0.99
R0383:Ncoa5 UTSW 2 164,851,310 (GRCm39) missense possibly damaging 0.67
R0835:Ncoa5 UTSW 2 164,844,714 (GRCm39) missense probably damaging 1.00
R1667:Ncoa5 UTSW 2 164,843,623 (GRCm39) missense probably damaging 1.00
R2110:Ncoa5 UTSW 2 164,854,838 (GRCm39) missense possibly damaging 0.59
R4887:Ncoa5 UTSW 2 164,844,070 (GRCm39) missense probably damaging 1.00
R5100:Ncoa5 UTSW 2 164,851,309 (GRCm39) missense probably damaging 0.99
R6616:Ncoa5 UTSW 2 164,852,483 (GRCm39) nonsense probably null
R6737:Ncoa5 UTSW 2 164,844,055 (GRCm39) missense probably damaging 1.00
R7015:Ncoa5 UTSW 2 164,844,001 (GRCm39) missense probably benign 0.02
R7567:Ncoa5 UTSW 2 164,846,171 (GRCm39) missense possibly damaging 0.83
R7840:Ncoa5 UTSW 2 164,854,816 (GRCm39) missense possibly damaging 0.66
R8289:Ncoa5 UTSW 2 164,854,982 (GRCm39) missense possibly damaging 0.90
R8915:Ncoa5 UTSW 2 164,854,927 (GRCm39) missense possibly damaging 0.90
R9502:Ncoa5 UTSW 2 164,854,802 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TCCCGAAAATCCCTCAGGTC -3'
(R):5'- CCTTCTAGGCCTAACAAGATGGG -3'

Sequencing Primer
(F):5'- AAAATCCCTCAGGTCCCGGG -3'
(R):5'- GCCTAACAAGATGGGTGATTTCC -3'
Posted On 2016-11-08