Incidental Mutation 'R7635:Fkbp5'
ID 589924
Institutional Source Beutler Lab
Gene Symbol Fkbp5
Ensembl Gene ENSMUSG00000024222
Gene Name FK506 binding protein 5
Synonyms D17Ertd592e, FKBP51, Dit1
MMRRC Submission 045694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7635 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 28617727-28705123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28647335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 167 (T167A)
Ref Sequence ENSEMBL: ENSMUSP00000078382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079413] [ENSMUST00000114792] [ENSMUST00000153744] [ENSMUST00000177939]
AlphaFold Q64378
Predicted Effect probably benign
Transcript: ENSMUST00000079413
AA Change: T167A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: T167A

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 probably benign
Transcript: ENSMUST00000114792
AA Change: T167A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: T167A

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 probably benign
Transcript: ENSMUST00000153744
AA Change: T167A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116466
Gene: ENSMUSG00000024222
AA Change: T167A

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 8e-32 PFAM
internal_repeat_1 138 182 6.75e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000177939
AA Change: T167A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: T167A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A C 9: 108,274,605 (GRCm39) D236A probably damaging Het
Adamts7 C T 9: 90,077,298 (GRCm39) P1322S probably damaging Het
AI661453 A T 17: 47,778,676 (GRCm39) T801S unknown Het
Alpk1 A G 3: 127,489,310 (GRCm39) V123A probably benign Het
Ap2b1 T C 11: 83,280,554 (GRCm39) V827A probably benign Het
Aqp5 T A 15: 99,492,059 (GRCm39) I219N probably benign Het
Astn1 G A 1: 158,495,105 (GRCm39) W1051* probably null Het
Atp8b1 T C 18: 64,706,376 (GRCm39) D211G possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
Bsn A G 9: 107,988,189 (GRCm39) V2521A unknown Het
Car7 T C 8: 105,275,069 (GRCm39) V169A probably damaging Het
Catip T A 1: 74,408,121 (GRCm39) D484E unknown Het
Ccdc18 T C 5: 108,376,915 (GRCm39) probably null Het
Cdyl T C 13: 36,055,634 (GRCm39) V518A probably damaging Het
Cep350 A T 1: 155,754,767 (GRCm39) C1949* probably null Het
Cinp A G 12: 110,850,447 (GRCm39) V18A possibly damaging Het
Clec14a A G 12: 58,315,314 (GRCm39) C103R probably damaging Het
Cplane1 A G 15: 8,256,404 (GRCm39) I1955V probably benign Het
Dnah8 G C 17: 31,004,081 (GRCm39) E3655Q probably damaging Het
Dnajc11 T C 4: 152,053,068 (GRCm39) I164T probably damaging Het
Dnajc13 A T 9: 104,039,566 (GRCm39) M2101K probably benign Het
Ephb4 A G 5: 137,370,365 (GRCm39) D864G probably damaging Het
Fads2b T A 2: 85,330,581 (GRCm39) H242L probably benign Het
Foxf2 C A 13: 31,810,087 (GRCm39) P9T unknown Het
Frmpd2 C A 14: 33,222,920 (GRCm39) H105N possibly damaging Het
Gal3st3 C A 19: 5,357,434 (GRCm39) R270S probably damaging Het
Galnt13 A G 2: 54,747,829 (GRCm39) I237V probably damaging Het
Gata5 G T 2: 179,975,790 (GRCm39) Q125K possibly damaging Het
Gm10036 T A 18: 15,966,346 (GRCm39) F166I possibly damaging Het
Gon4l A G 3: 88,802,413 (GRCm39) N1008S probably benign Het
Got1l1 G A 8: 27,687,962 (GRCm39) L356F probably damaging Het
Gse1 A G 8: 121,299,634 (GRCm39) E888G unknown Het
Hmx1 C A 5: 35,549,583 (GRCm39) P292Q possibly damaging Het
Igkv7-33 A T 6: 70,036,138 (GRCm39) S16T probably benign Het
Itga2b C T 11: 102,352,582 (GRCm39) G424D probably damaging Het
Itga6 A T 2: 71,673,577 (GRCm39) K870N probably benign Het
Lama4 A T 10: 38,968,184 (GRCm39) Q1442L probably benign Het
Lamc1 C T 1: 153,124,806 (GRCm39) R655H probably damaging Het
Lclat1 C T 17: 73,468,931 (GRCm39) S37L probably benign Het
Lrp1b A G 2: 41,013,609 (GRCm39) probably null Het
Map3k20 T C 2: 72,232,348 (GRCm39) S335P probably benign Het
Micu3 A G 8: 40,819,275 (GRCm39) D318G possibly damaging Het
Mmp16 T C 4: 18,054,382 (GRCm39) I296T probably benign Het
Mmp20 A T 9: 7,639,335 (GRCm39) I168L probably benign Het
Mpp3 T C 11: 101,916,209 (GRCm39) K48E probably damaging Het
Muc5ac A T 7: 141,359,490 (GRCm39) T1317S possibly damaging Het
Muc5ac A T 7: 141,359,413 (GRCm39) D1291V probably damaging Het
Myl10 A T 5: 136,729,718 (GRCm39) M119L probably benign Het
Myo5b T A 18: 74,713,467 (GRCm39) V104E probably damaging Het
Nek10 G A 14: 14,850,932 (GRCm38) V326M probably benign Het
Or11l3 T A 11: 58,515,990 (GRCm39) E107D unknown Het
Or6c2 A T 10: 129,362,551 (GRCm39) M152L probably benign Het
Or6z1 G A 7: 6,504,581 (GRCm39) L221F probably benign Het
Pcnx1 A G 12: 81,965,899 (GRCm39) T161A Het
Peg10 T C 6: 4,754,938 (GRCm39) S240P probably damaging Het
Pex6 G A 17: 47,034,943 (GRCm39) V822M probably damaging Het
Pla2r1 T A 2: 60,365,106 (GRCm39) T155S probably benign Het
Pld5 A T 1: 175,821,416 (GRCm39) probably null Het
Plxna4 A G 6: 32,473,676 (GRCm39) V447A probably damaging Het
Pou2af1 T C 9: 51,144,283 (GRCm39) S66P probably benign Het
Pramel26 T C 4: 143,536,987 (GRCm39) E448G probably damaging Het
Prl2c2 T C 13: 13,171,928 (GRCm39) D147G probably damaging Het
Prune1 A G 3: 95,162,596 (GRCm39) L359P probably damaging Het
Rab4b A T 7: 26,875,642 (GRCm39) V13E probably damaging Het
Rbbp6 T G 7: 122,575,231 (GRCm39) V80G possibly damaging Het
Reep5 C T 18: 34,482,853 (GRCm39) G119S possibly damaging Het
Rem1 G C 2: 152,476,585 (GRCm39) R281P probably damaging Het
Rnf215 C T 11: 4,089,989 (GRCm39) R309C probably damaging Het
Scn4a C A 11: 106,215,458 (GRCm39) V1173F probably damaging Het
Serpine3 A T 14: 62,910,464 (GRCm39) I186F possibly damaging Het
Slc7a1 A G 5: 148,289,046 (GRCm39) V67A probably damaging Het
Smco2 A T 6: 146,761,507 (GRCm39) E142V possibly damaging Het
Spata25 G A 2: 164,669,889 (GRCm39) P41S probably benign Het
Specc1l A G 10: 75,112,638 (GRCm39) D955G probably damaging Het
Spns3 C T 11: 72,429,860 (GRCm39) probably null Het
Sptbn2 C T 19: 4,794,235 (GRCm39) R1480C probably damaging Het
Taf1a T C 1: 183,189,253 (GRCm39) probably null Het
Tas2r107 G T 6: 131,636,563 (GRCm39) T162K possibly damaging Het
Tcea1 T C 1: 4,959,774 (GRCm39) S139P probably benign Het
Tecta C T 9: 42,242,283 (GRCm39) V2102I probably benign Het
Tmem131 A T 1: 36,911,629 (GRCm39) I106K probably damaging Het
Tpbpb A G 13: 61,049,925 (GRCm39) V68A probably benign Het
Ttc27 A T 17: 75,025,710 (GRCm39) N61I probably benign Het
Ttn T C 2: 76,580,021 (GRCm39) N23624S probably damaging Het
Tut7 T C 13: 59,947,904 (GRCm39) K806E probably benign Het
Usp2 T C 9: 43,978,519 (GRCm39) probably null Het
Vmn1r10 A G 6: 57,091,026 (GRCm39) H206R probably benign Het
Vmn1r234 T C 17: 21,449,479 (GRCm39) I131T probably damaging Het
Vwf G T 6: 125,659,697 (GRCm39) R2632L Het
Wdr36 T C 18: 32,983,578 (GRCm39) L443P probably benign Het
Zfp143 T C 7: 109,688,025 (GRCm39) V489A probably benign Het
Zfp383 G A 7: 29,614,696 (GRCm39) R317Q probably damaging Het
Zswim8 A G 14: 20,766,368 (GRCm39) T839A probably damaging 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
R2102:Fkbp5 UTSW 17 28,625,162 (GRCm39) missense possibly damaging 0.81
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
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'- ACCAATCCTGAATGACATGTTACC -3'
(R):5'- GAACTGCAGAGTACATCGCTC -3'

Sequencing Primer
(F):5'- ATAACTAAACCCAAACTAGACTTGTG -3'
(R):5'- GCAGAGTACATCGCTCTCATG -3'
Posted On 2019-10-24