Incidental Mutation 'R1652:Fkbp4'
ID 188777
Institutional Source Beutler Lab
Gene Symbol Fkbp4
Ensembl Gene ENSMUSG00000030357
Gene Name FK506 binding protein 4
Synonyms FKBP-52, FKBP52
MMRRC Submission 039688-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # R1652 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 128407066-128415619 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128413637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 2 (I2N)
Ref Sequence ENSEMBL: ENSMUSP00000122087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032508] [ENSMUST00000150387] [ENSMUST00000151796]
AlphaFold P30416
Predicted Effect probably benign
Transcript: ENSMUST00000032508
AA Change: I49N

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032508
Gene: ENSMUSG00000030357
AA Change: I49N

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 noncoding transcript
Transcript: ENSMUST00000139448
SMART Domains Protein: ENSMUSP00000114939
Gene: ENSMUSG00000030357

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 3.8e-33 PFAM
Pfam:FKBP_C 160 250 2.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144745
Predicted Effect probably damaging
Transcript: ENSMUST00000150387
AA Change: I2N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119930
Gene: ENSMUSG00000030357
AA Change: I2N

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 damaging
Transcript: ENSMUST00000151796
AA Change: I2N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122087
Gene: ENSMUSG00000030357
AA Change: I2N

DomainStartEndE-ValueType
Pfam:FKBP_C 1 88 3.7e-31 PFAM
Pfam:FKBP_C 113 187 3.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204081
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 T A 14: 66,314,700 (GRCm39) E37V probably benign Het
Adamts7 A G 9: 90,071,697 (GRCm39) D664G probably damaging Het
Adamtsl5 A G 10: 80,178,011 (GRCm39) V256A probably benign Het
Adrb1 C T 19: 56,711,705 (GRCm39) S301L possibly damaging Het
Akap9 A G 5: 4,127,210 (GRCm39) Y3686C probably damaging Het
Ap3b2 A G 7: 81,123,147 (GRCm39) S456P probably damaging Het
Atp1a4 T C 1: 172,082,470 (GRCm39) Y124C probably damaging Het
Bdkrb1 A T 12: 105,570,502 (GRCm39) T23S probably damaging Het
Cacna1g A G 11: 94,318,230 (GRCm39) Y1468H probably damaging Het
Cep170b A G 12: 112,699,947 (GRCm39) D152G probably damaging Het
Cers4 T A 8: 4,566,908 (GRCm39) probably null Het
Cplane1 G T 15: 8,230,630 (GRCm39) R969L probably damaging Het
Cyp2t4 A T 7: 26,856,815 (GRCm39) D285V possibly damaging Het
Ddx56 A T 11: 6,217,679 (GRCm39) L14Q probably damaging Het
Dennd2d C A 3: 106,394,317 (GRCm39) R63S probably benign Het
Dnah7b T A 1: 46,214,550 (GRCm39) L1105* probably null Het
Eef1e1 A T 13: 38,840,081 (GRCm39) L75I possibly damaging Het
Eif1ad11 T A 12: 87,993,853 (GRCm39) V27E probably benign Het
Fam76b A G 9: 13,747,188 (GRCm39) S191G probably benign Het
Fat1 T A 8: 45,478,215 (GRCm39) Y2420* probably null Het
Fbxw18 T A 9: 109,519,695 (GRCm39) L270F probably benign Het
Fech T A 18: 64,591,269 (GRCm39) H385L probably benign Het
Gda A T 19: 21,378,042 (GRCm39) M339K probably damaging Het
Gdpgp1 T A 7: 79,889,112 (GRCm39) M381K probably benign Het
Glyctk C A 9: 106,034,356 (GRCm39) V173L probably damaging Het
Gtf2ird1 G A 5: 134,424,567 (GRCm39) P393L probably damaging Het
Kat2a T C 11: 100,599,437 (GRCm39) N517D probably damaging Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lama1 G A 17: 68,114,841 (GRCm39) R2330Q probably damaging Het
Lamc1 C T 1: 153,125,392 (GRCm39) G597E probably damaging Het
Lekr1 A T 3: 65,591,508 (GRCm39) S82C probably benign Het
Lgi3 T C 14: 70,768,656 (GRCm39) F51S probably damaging Het
Lrba T C 3: 86,447,245 (GRCm39) S2030P probably damaging Het
Map4k5 A G 12: 69,877,201 (GRCm39) probably null Het
Mcoln2 C A 3: 145,869,390 (GRCm39) R32S possibly damaging Het
Metap1 A T 3: 138,168,151 (GRCm39) F324L probably damaging Het
Moxd2 C T 6: 40,864,337 (GRCm39) R31H probably damaging Het
Ncf4 T A 15: 78,145,234 (GRCm39) M274K possibly damaging Het
Nup205 T G 6: 35,215,901 (GRCm39) V1747G probably benign Het
Or10d3 G A 9: 39,461,591 (GRCm39) T192I probably benign Het
Or52r1c A G 7: 102,735,013 (GRCm39) D91G probably benign Het
Or5ae1 T C 7: 84,565,728 (GRCm39) V247A probably damaging Het
Pbx3 C T 2: 34,114,568 (GRCm39) G122D probably damaging Het
Plcb3 A G 19: 6,932,664 (GRCm39) F1034L probably benign Het
Ppp2r1a G A 17: 21,176,236 (GRCm39) V153I probably benign Het
Prss33 C G 17: 24,054,115 (GRCm39) M30I probably benign Het
Prss33 A T 17: 24,054,116 (GRCm39) M30K probably benign Het
R3hdm2 G A 10: 127,330,960 (GRCm39) S793N probably benign Het
Rab11fip5 C T 6: 85,325,279 (GRCm39) V343M probably damaging Het
Rere A G 4: 150,696,522 (GRCm39) probably benign Het
Rims1 G T 1: 22,363,090 (GRCm39) P52Q probably damaging Het
Scpep1 G T 11: 88,843,260 (GRCm39) S66* probably null Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Shc3 A T 13: 51,626,875 (GRCm39) H129Q probably damaging Het
Slc22a20 A T 19: 6,022,970 (GRCm39) M391K probably damaging Het
Smurf1 A T 5: 144,817,474 (GRCm39) I712K probably damaging Het
Snx25 T A 8: 46,502,510 (GRCm39) I629L probably damaging Het
Supt16 A C 14: 52,414,637 (GRCm39) V425G probably benign Het
Tnik G A 3: 28,658,442 (GRCm39) V576I probably benign Het
Trcg1 A C 9: 57,152,856 (GRCm39) D551A probably damaging Het
Ubald2 A G 11: 116,325,178 (GRCm39) N15S probably damaging Het
Usf1 T C 1: 171,245,317 (GRCm39) I243T probably damaging Het
Vmn2r19 A T 6: 123,292,656 (GRCm39) I233F possibly damaging Het
Vmn2r63 T C 7: 42,577,635 (GRCm39) N301S probably benign Het
Wdr27 A G 17: 15,137,532 (GRCm39) F419L 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
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
R9739:Fkbp4 UTSW 6 128,410,728 (GRCm39) missense probably benign 0.00
Z1177:Fkbp4 UTSW 6 128,410,074 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCGGAGCCTATCTATCCTGCCAAC -3'
(R):5'- AGACCCTGATCTGGTGATCCACTAC -3'

Sequencing Primer
(F):5'- TATCTATCCTGCCAACCCACTAAC -3'
(R):5'- ttttatttttgttttCCCCCAAACAC -3'
Posted On 2014-05-09