Incidental Mutation 'R9739:Fkbp4'
ID 731756
Institutional Source Beutler Lab
Gene Symbol Fkbp4
Ensembl Gene ENSMUSG00000030357
Gene Name FK506 binding protein 4
Synonyms FKBP-52, FKBP52
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # R9739 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 128407066-128415619 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128410728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 234 (R234G)
Ref Sequence ENSEMBL: ENSMUSP00000032508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032508] [ENSMUST00000150387] [ENSMUST00000151796]
AlphaFold P30416
Predicted Effect probably benign
Transcript: ENSMUST00000032508
AA Change: R234G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032508
Gene: ENSMUSG00000030357
AA Change: R234G

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 2.6e-33 PFAM
Pfam:FKBP_C 160 250 1.3e-14 PFAM
TPR 270 303 4.44e1 SMART
TPR 319 352 1.76e-5 SMART
TPR 353 386 2e-4 SMART
low complexity region 419 431 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150387
AA Change: R187G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000119930
Gene: ENSMUSG00000030357
AA Change: R187G

DomainStartEndE-ValueType
Pfam:FKBP_C 1 88 7.8e-31 PFAM
Pfam:FKBP_C 113 203 4.7e-13 PFAM
Blast:TPR 223 256 3e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000151796
AA Change: R187G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000122087
Gene: ENSMUSG00000030357
AA Change: R187G

DomainStartEndE-ValueType
Pfam:FKBP_C 1 88 3.7e-31 PFAM
Pfam:FKBP_C 113 187 3.2e-8 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
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 has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous null males show reproductive tissue defects consistent with androgen insensitivity such as ambiguous external genitalia, dysgenic prostate, malformed seminal gland and cryptorchism. Males also exhibit hypospadia and infertility. Females are sterile due to failure of implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C T 1: 25,592,849 (GRCm39) V313M probably damaging Het
Alg6 G A 4: 99,650,195 (GRCm39) V472I possibly damaging Het
Atp8b2 A G 3: 89,853,403 (GRCm39) V728A probably benign Het
Bach2 T A 4: 32,563,042 (GRCm39) I503N probably damaging Het
Bend3 T C 10: 43,385,847 (GRCm39) L80P possibly damaging Het
Casq1 T C 1: 172,043,051 (GRCm39) D215G possibly damaging Het
Ccdc175 A T 12: 72,186,792 (GRCm39) Y351N probably benign Het
Cd200r4 A T 16: 44,641,142 (GRCm39) probably benign Het
Ctnnal1 T C 4: 56,816,200 (GRCm39) D621G probably damaging Het
Esco1 T A 18: 10,594,218 (GRCm39) H356L probably benign Het
Fhod1 C T 8: 106,064,378 (GRCm39) V191M unknown Het
Fhod3 T C 18: 24,903,566 (GRCm39) L100P probably damaging Het
Flnb A T 14: 7,935,954 (GRCm38) K2265* probably null Het
Fsip2 T C 2: 82,823,896 (GRCm39) F6543S possibly damaging Het
Fyb1 A G 15: 6,670,063 (GRCm39) N594S probably benign Het
Gm17019 G A 5: 15,082,841 (GRCm39) R38* probably null Het
Gm37240 A G 3: 84,417,113 (GRCm39) probably null Het
Gm9195 C T 14: 72,690,264 (GRCm39) D1820N probably damaging Het
Mycbp2 A G 14: 103,520,229 (GRCm39) V729A probably benign Het
Or8g21 G T 9: 38,906,302 (GRCm39) S143* probably null Het
Or9s18 T C 13: 65,300,442 (GRCm39) S135P probably damaging Het
Pde12 T C 14: 26,386,757 (GRCm39) T584A possibly damaging Het
Pfkfb2 T C 1: 130,624,815 (GRCm39) Q515R probably benign Het
Pkhd1 T C 1: 20,420,708 (GRCm39) N2466S probably damaging Het
Plcd1 A G 9: 118,901,195 (GRCm39) V720A possibly damaging Het
Pramel24 T A 4: 143,454,997 (GRCm39) F432I possibly damaging Het
Rapgef6 A G 11: 54,513,189 (GRCm39) T285A probably benign Het
Scyl3 T C 1: 163,771,419 (GRCm39) F255S probably damaging Het
Sfrp5 T A 19: 42,188,247 (GRCm39) M191L probably benign Het
Snrpf C T 10: 93,419,390 (GRCm39) C66Y probably benign Het
Syngr2 T A 11: 117,703,298 (GRCm39) I38N probably damaging Het
Thap1 C T 8: 26,650,990 (GRCm39) H87Y probably benign Het
Tubgcp3 A G 8: 12,699,744 (GRCm39) Y370H probably benign Het
Usp17la A T 7: 104,510,736 (GRCm39) N447I possibly damaging Het
Zfp532 C T 18: 65,757,894 (GRCm39) T609M probably benign Het
Other mutations in Fkbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Fkbp4 APN 6 128,412,754 (GRCm39) missense probably benign 0.28
IGL02215:Fkbp4 APN 6 128,411,433 (GRCm39) splice site probably benign
IGL02607:Fkbp4 APN 6 128,411,433 (GRCm39) splice site probably benign
IGL03186:Fkbp4 APN 6 128,411,763 (GRCm39) missense probably benign
IGL03238:Fkbp4 APN 6 128,411,720 (GRCm39) missense probably damaging 1.00
R0083:Fkbp4 UTSW 6 128,409,370 (GRCm39) unclassified probably benign
R0491:Fkbp4 UTSW 6 128,412,705 (GRCm39) missense probably damaging 1.00
R1652:Fkbp4 UTSW 6 128,413,637 (GRCm39) missense probably damaging 0.97
R1868:Fkbp4 UTSW 6 128,409,453 (GRCm39) missense probably benign 0.00
R2010:Fkbp4 UTSW 6 128,412,765 (GRCm39) missense probably benign 0.01
R2292:Fkbp4 UTSW 6 128,413,625 (GRCm39) missense probably damaging 1.00
R5616:Fkbp4 UTSW 6 128,410,517 (GRCm39) missense probably damaging 0.99
R6478:Fkbp4 UTSW 6 128,410,194 (GRCm39) missense probably damaging 1.00
R7156:Fkbp4 UTSW 6 128,412,787 (GRCm39) missense probably benign 0.31
R9182:Fkbp4 UTSW 6 128,415,382 (GRCm39) missense probably benign
R9445:Fkbp4 UTSW 6 128,413,580 (GRCm39) missense probably damaging 1.00
Z1177:Fkbp4 UTSW 6 128,410,074 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTATGTTGCTCTGCTCCAG -3'
(R):5'- AGTGAGTGCTGAAGGACCAC -3'

Sequencing Primer
(F):5'- GAGCTCATCTCCCAAGACTCCTTG -3'
(R):5'- CCACCTAAATGTGTAATGAAAAGGC -3'
Posted On 2022-11-14