Incidental Mutation 'R2102:Fkbp5'
ID 230627
Institutional Source Beutler Lab
Gene Symbol Fkbp5
Ensembl Gene ENSMUSG00000024222
Gene Name FK506 binding protein 5
Synonyms D17Ertd592e, FKBP51, Dit1
MMRRC Submission 040106-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2102 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 28617727-28705123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28625162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 308 (E308G)
Ref Sequence ENSEMBL: ENSMUSP00000136245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079413] [ENSMUST00000114792] [ENSMUST00000177939]
AlphaFold Q64378
Predicted Effect possibly damaging
Transcript: ENSMUST00000079413
AA Change: E308G

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: E308G

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 7.1e-31 PFAM
Pfam:FKBP_C 158 248 2.1e-14 PFAM
TPR 268 301 9.48e1 SMART
TPR 317 350 1.45e-6 SMART
TPR 351 384 1.23e-4 SMART
low complexity region 421 440 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114792
AA Change: E308G

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: E308G

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 7.1e-31 PFAM
Pfam:FKBP_C 158 248 2.1e-14 PFAM
TPR 268 301 9.48e1 SMART
TPR 317 350 1.45e-6 SMART
TPR 351 384 1.23e-4 SMART
low complexity region 421 440 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143685
Predicted Effect possibly damaging
Transcript: ENSMUST00000177939
AA Change: E308G

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: E308G

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 8.8e-32 PFAM
Pfam:FKBP_C 158 248 1.8e-15 PFAM
TPR 268 301 9.48e1 SMART
TPR 317 350 1.45e-6 SMART
TPR 351 384 1.23e-4 SMART
low complexity region 421 440 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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 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 to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null allele are normal and fertile. Mice homozygous for another knock-out allele exhibit decreased depression-related behavior and increased anxiety-related behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,770,934 (GRCm39) L41P probably damaging Het
Abca8a G T 11: 109,958,878 (GRCm39) P749T probably damaging Het
Acad8 A T 9: 26,896,861 (GRCm39) Y199* probably null Het
Acot12 A T 13: 91,908,096 (GRCm39) I93L probably benign Het
Acsbg3 T A 17: 57,191,949 (GRCm39) Y542* probably null Het
Actn1 C A 12: 80,230,291 (GRCm39) R321L probably benign Het
Ap3s1 A G 18: 46,887,469 (GRCm39) E34G possibly damaging Het
Armh4 A G 14: 50,011,459 (GRCm39) Y83H probably damaging Het
Atp5f1a T C 18: 77,870,017 (GRCm39) S533P probably damaging Het
Bcorl1 T C X: 47,458,081 (GRCm39) V538A probably benign Het
Cdhr4 A G 9: 107,875,206 (GRCm39) T689A probably damaging Het
Cdk19 A T 10: 40,355,726 (GRCm39) probably benign Het
Cobll1 G T 2: 64,928,554 (GRCm39) P923Q probably damaging Het
Cpt1a T C 19: 3,421,585 (GRCm39) S456P probably benign Het
Cst11 T C 2: 148,613,160 (GRCm39) Y55C probably damaging Het
Ctif T G 18: 75,654,452 (GRCm39) D358A probably benign Het
Cyp2d34 T G 15: 82,500,974 (GRCm39) E386A probably benign Het
Dcxr A G 11: 120,617,133 (GRCm39) F104L probably benign Het
Dmbt1 G T 7: 130,703,762 (GRCm39) W1107C probably damaging Het
Dsg1a A T 18: 20,466,830 (GRCm39) I567F probably damaging Het
Ednrb T A 14: 104,058,350 (GRCm39) R318* probably null Het
Exd2 T C 12: 80,527,377 (GRCm39) I36T possibly damaging Het
Fam83b A T 9: 76,399,987 (GRCm39) I372N probably damaging Het
Fbh1 A G 2: 11,763,100 (GRCm39) V518A probably benign Het
Foxl2 A C 9: 98,838,282 (GRCm39) Y190S probably damaging Het
Gab3 TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC X: 74,043,585 (GRCm39) probably benign Het
Galnt17 C T 5: 131,114,831 (GRCm39) R223Q probably damaging Het
Gm14496 G A 2: 181,633,127 (GRCm39) D37N possibly damaging Het
Gpr82 T C X: 13,532,274 (GRCm39) V274A probably benign Het
Hsp90aa1 T C 12: 110,660,566 (GRCm39) N292S probably damaging Het
Ints1 C T 5: 139,741,754 (GRCm39) V1826M possibly damaging Het
Itgb4 A G 11: 115,896,561 (GRCm39) D1440G probably benign Het
Kdm3b A G 18: 34,963,200 (GRCm39) D1552G probably damaging Het
Kel G A 6: 41,663,418 (GRCm39) T702I possibly damaging Het
Klf3 T C 5: 64,979,266 (GRCm39) V36A probably damaging Het
Klhl23 A T 2: 69,659,228 (GRCm39) I418F probably damaging Het
Kndc1 A T 7: 139,510,674 (GRCm39) I1329L probably benign Het
Krtap2-4 T C 11: 99,505,606 (GRCm39) probably benign Het
Krtap9-5 T A 11: 99,840,270 (GRCm39) C324S unknown Het
Lepr T C 4: 101,630,178 (GRCm39) V631A possibly damaging Het
Lifr T C 15: 7,216,404 (GRCm39) I793T probably damaging Het
Mcoln1 G A 8: 3,561,731 (GRCm39) R427H probably damaging Het
Mgat5b G A 11: 116,810,255 (GRCm39) probably benign Het
Mmp12 G A 9: 7,349,802 (GRCm39) V78M probably damaging Het
Mrgprb8 T A 7: 48,038,634 (GRCm39) L102M possibly damaging Het
Mybphl A G 3: 108,282,949 (GRCm39) T246A possibly damaging Het
Myo7b A T 18: 32,133,031 (GRCm39) F439L probably damaging Het
Myom1 A T 17: 71,408,024 (GRCm39) D1088V probably damaging Het
Nrcam T C 12: 44,623,471 (GRCm39) F1004S probably benign Het
Palld A T 8: 61,986,467 (GRCm39) M788K possibly damaging Het
Pappa T A 4: 65,234,465 (GRCm39) Y1423* probably null Het
Pfkm A G 15: 98,027,171 (GRCm39) K615E probably damaging Het
Pkd1l2 G T 8: 117,808,208 (GRCm39) D105E probably damaging Het
Plekha5 G A 6: 140,518,603 (GRCm39) A297T probably damaging Het
Plxnb1 T A 9: 108,944,810 (GRCm39) M2051K probably damaging Het
Ppp6r2 A G 15: 89,162,949 (GRCm39) T524A probably damaging Het
Psg26 T C 7: 18,209,067 (GRCm39) E447G probably damaging Het
Rab3gap2 A G 1: 185,014,586 (GRCm39) D1225G probably benign Het
Rep15 A G 6: 146,934,403 (GRCm39) probably null Het
Rgl2 G A 17: 34,152,314 (GRCm39) probably null Het
Rpl7a T G 2: 26,801,473 (GRCm39) V55G possibly damaging Het
Rtp1 A T 16: 23,250,108 (GRCm39) I158F probably benign Het
Scaper A T 9: 55,819,334 (GRCm39) V127E probably benign Het
Sele T A 1: 163,881,395 (GRCm39) C501S probably damaging Het
Serpina11 C T 12: 103,949,104 (GRCm39) V358I probably benign Het
Slc16a4 A G 3: 107,211,819 (GRCm39) probably null Het
Slco6c1 T C 1: 97,055,656 (GRCm39) I82V probably benign Het
Smarca5 T C 8: 81,431,304 (GRCm39) E971G probably damaging Het
Smr2 T C 5: 88,256,595 (GRCm39) L91P probably damaging Het
Spata31f3 T A 4: 42,868,558 (GRCm39) H355L probably benign Het
Spopfm2 A T 3: 94,082,973 (GRCm39) C279* probably null Het
Srrm2 A G 17: 24,036,722 (GRCm39) probably benign Het
Sting1 A T 18: 35,868,290 (GRCm39) M270K probably damaging Het
Syne1 A G 10: 5,006,514 (GRCm39) W7980R probably damaging Het
Syne2 A G 12: 76,074,853 (GRCm39) T4598A probably benign Het
Tmem171 A T 13: 98,828,851 (GRCm39) F100I probably damaging Het
Tnfrsf10b A G 14: 70,013,546 (GRCm39) T159A probably benign Het
Tph1 A T 7: 46,309,834 (GRCm39) probably null Het
Trim46 A T 3: 89,142,504 (GRCm39) I638N probably damaging Het
Ubl7 G A 9: 57,827,825 (GRCm39) D171N probably damaging Het
Utp20 A G 10: 88,608,779 (GRCm39) Y1514H probably damaging Het
Vmn2r81 A G 10: 79,129,334 (GRCm39) I742V probably damaging Het
Xrcc2 A T 5: 25,897,505 (GRCm39) V148E probably damaging Het
Zbed3 A G 13: 95,472,615 (GRCm39) D13G possibly damaging Het
Zdhhc25 T A 15: 88,484,962 (GRCm39) L99Q probably benign Het
Other mutations in Fkbp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Fkbp5 APN 17 28,620,020 (GRCm39) utr 3 prime probably benign
IGL03104:Fkbp5 APN 17 28,634,946 (GRCm39) missense probably damaging 1.00
R0242:Fkbp5 UTSW 17 28,647,426 (GRCm39) missense probably benign 0.01
R0242:Fkbp5 UTSW 17 28,647,426 (GRCm39) missense probably benign 0.01
R0531:Fkbp5 UTSW 17 28,657,003 (GRCm39) missense probably benign 0.00
R1557:Fkbp5 UTSW 17 28,621,729 (GRCm39) missense probably damaging 0.96
R1853:Fkbp5 UTSW 17 28,648,281 (GRCm39) missense possibly damaging 0.82
R2194:Fkbp5 UTSW 17 28,657,001 (GRCm39) missense probably benign 0.32
R3522:Fkbp5 UTSW 17 28,634,970 (GRCm39) missense probably benign 0.00
R4959:Fkbp5 UTSW 17 28,647,343 (GRCm39) missense probably damaging 1.00
R4973:Fkbp5 UTSW 17 28,647,343 (GRCm39) missense probably damaging 1.00
R5164:Fkbp5 UTSW 17 28,656,964 (GRCm39) critical splice donor site probably null
R6053:Fkbp5 UTSW 17 28,647,440 (GRCm39) missense probably benign 0.00
R6443:Fkbp5 UTSW 17 28,648,253 (GRCm39) missense probably damaging 1.00
R6989:Fkbp5 UTSW 17 28,634,919 (GRCm39) missense probably benign 0.01
R7027:Fkbp5 UTSW 17 28,631,037 (GRCm39) missense probably damaging 1.00
R7454:Fkbp5 UTSW 17 28,634,999 (GRCm39) missense probably damaging 0.97
R7635:Fkbp5 UTSW 17 28,647,335 (GRCm39) missense probably benign 0.00
R7708:Fkbp5 UTSW 17 28,657,071 (GRCm39) missense probably benign
R7862:Fkbp5 UTSW 17 28,631,013 (GRCm39) missense probably damaging 1.00
R7920:Fkbp5 UTSW 17 28,648,213 (GRCm39) missense possibly damaging 0.92
R8435:Fkbp5 UTSW 17 28,621,752 (GRCm39) missense possibly damaging 0.84
R8471:Fkbp5 UTSW 17 28,634,943 (GRCm39) missense probably benign 0.00
R9267:Fkbp5 UTSW 17 28,629,558 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TTATGGCGTCCCAGCTCATG -3'
(R):5'- ATAGAGTGGGGCTGACATGC -3'

Sequencing Primer
(F):5'- GCTCATGCTGACCATAGAGG -3'
(R):5'- CATGCAGAACTATTCCGTGTGAGC -3'
Posted On 2014-09-18