Incidental Mutation 'R4407:Fkbp3'
ID 327727
Institutional Source Beutler Lab
Gene Symbol Fkbp3
Ensembl Gene ENSMUSG00000020949
Gene Name FK506 binding protein 3
Synonyms FKBP25, 25kDa
MMRRC Submission 041689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4407 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 65109206-65120712 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65116778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 53 (T53A)
Ref Sequence ENSEMBL: ENSMUSP00000152766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021332] [ENSMUST00000220730] [ENSMUST00000221166] [ENSMUST00000221913]
AlphaFold Q62446
Predicted Effect possibly damaging
Transcript: ENSMUST00000021332
AA Change: T53A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021332
Gene: ENSMUSG00000020949
AA Change: T53A

DomainStartEndE-ValueType
PDB:2KFV|A 1 73 2e-45 PDB
low complexity region 91 100 N/A INTRINSIC
Pfam:FKBP_C 121 221 3.9e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220730
AA Change: T53A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220957
Predicted Effect unknown
Transcript: ENSMUST00000220983
AA Change: T45A
Predicted Effect probably damaging
Transcript: ENSMUST00000221166
AA Change: T53A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000221608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221706
Predicted Effect silent
Transcript: ENSMUST00000221913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222467
Meta Mutation Damage Score 0.2759 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830035A12Rik T C 11: 107,422,881 (GRCm39) noncoding transcript Het
Bbs10 A G 10: 111,135,720 (GRCm39) T278A probably benign Het
Bcl6b A G 11: 70,116,929 (GRCm39) L450P probably damaging Het
Braf T G 6: 39,592,654 (GRCm39) K674Q probably damaging Het
Cep112 C T 11: 108,410,027 (GRCm39) T481I possibly damaging Het
Cep135 T A 5: 76,772,514 (GRCm39) M633K probably benign Het
Cpped1 T C 16: 11,623,285 (GRCm39) Y278C probably damaging Het
Depdc5 T A 5: 33,061,878 (GRCm39) probably null Het
Dolpp1 C T 2: 30,286,464 (GRCm39) A128V possibly damaging Het
E2f5 T A 3: 14,668,823 (GRCm39) D238E probably benign Het
Fat4 A T 3: 39,012,689 (GRCm39) D2328V probably benign Het
Fbln1 T A 15: 85,115,757 (GRCm39) probably null Het
Flg2 G T 3: 93,122,176 (GRCm39) G1449C unknown Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Glyctk A T 9: 106,034,307 (GRCm39) probably benign Het
Gm6430 T C 1: 96,953,297 (GRCm39) noncoding transcript Het
Golga1 C A 2: 38,909,653 (GRCm39) probably null Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
L3mbtl3 A G 10: 26,189,782 (GRCm39) V494A unknown Het
Lama2 AATCAGACAGGAG A 10: 27,088,124 (GRCm39) probably benign Het
Lemd3 A T 10: 120,761,335 (GRCm39) L907Q possibly damaging Het
Lrp2 A T 2: 69,332,861 (GRCm39) V1552D probably damaging Het
Map3k12 T C 15: 102,413,837 (GRCm39) T45A probably damaging Het
Mycbp2 A T 14: 103,524,664 (GRCm39) D665E probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Or4p7 A T 2: 88,222,427 (GRCm39) M279L probably benign Het
Pcdhac2 G T 18: 37,277,499 (GRCm39) V160L probably benign Het
Pcnt T C 10: 76,210,704 (GRCm39) E2473G possibly damaging Het
Pitpnm2 T A 5: 124,290,678 (GRCm39) I3L possibly damaging Het
Prkd3 C A 17: 79,290,987 (GRCm39) W176L probably damaging Het
Prpf39 C T 12: 65,103,040 (GRCm39) A438V probably damaging Het
Rpgrip1 T A 14: 52,384,856 (GRCm39) F655I probably damaging Het
Rrp12 T C 19: 41,880,990 (GRCm39) Y147C probably damaging Het
Sec23b A T 2: 144,416,638 (GRCm39) N429Y possibly damaging Het
Slc2a10 T A 2: 165,356,684 (GRCm39) S115T probably damaging Het
Spg11 A C 2: 121,905,813 (GRCm39) D1277E probably benign Het
Sspo A G 6: 48,437,454 (GRCm39) D1279G probably damaging Het
St18 T C 1: 6,898,061 (GRCm39) I621T probably benign Het
Tbc1d31 T A 15: 57,783,438 (GRCm39) D112E possibly damaging Het
Tdpoz6 C A 3: 93,599,419 (GRCm39) V317L probably benign Het
Tgm4 A T 9: 122,885,595 (GRCm39) D379V probably damaging Het
Thyn1 A T 9: 26,914,893 (GRCm39) D15V possibly damaging Het
Timd6 A G 11: 46,468,207 (GRCm39) T94A probably damaging Het
Tm4sf19 T C 16: 32,226,712 (GRCm39) V167A possibly damaging Het
Trim38 A C 13: 23,975,474 (GRCm39) Q471P probably benign Het
Trmt1 T A 8: 85,424,384 (GRCm39) probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp9y T C Y: 1,336,375 (GRCm39) I1500V probably benign Het
Vgll4 C T 6: 114,867,573 (GRCm39) probably null Het
Vmn1r173 T A 7: 23,402,441 (GRCm39) N225K probably damaging Het
Vmn2r22 C T 6: 123,614,913 (GRCm39) G226R probably damaging Het
Wnk3 C A X: 150,016,209 (GRCm39) P555Q probably benign Het
Yes1 T G 5: 32,797,929 (GRCm39) Y83D possibly damaging Het
Zdhhc15 G A X: 103,604,294 (GRCm39) R322* probably null Het
Other mutations in Fkbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02670:Fkbp3 APN 12 65,115,877 (GRCm39) nonsense probably null
R0632:Fkbp3 UTSW 12 65,120,692 (GRCm39) missense probably benign 0.03
R5742:Fkbp3 UTSW 12 65,116,812 (GRCm39) missense probably benign 0.04
R6027:Fkbp3 UTSW 12 65,120,692 (GRCm39) missense possibly damaging 0.94
R7929:Fkbp3 UTSW 12 65,116,812 (GRCm39) unclassified probably benign
R9130:Fkbp3 UTSW 12 65,112,567 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CCTTGCTTGATATAACAAAGCCC -3'
(R):5'- GCAGCTAGCACAGAAAGATTGTTTC -3'

Sequencing Primer
(F):5'- GCTTGATATAACAAAGCCCAATTATC -3'
(R):5'- AGACAGGGTCTCATGTATCTCAGC -3'
Posted On 2015-07-07