Incidental Mutation 'R5527:Fkbp1b'
ID 431941
Institutional Source Beutler Lab
Gene Symbol Fkbp1b
Ensembl Gene ENSMUSG00000020635
Gene Name FK506 binding protein 1b
Synonyms 12.6kDa, calstabin2, FKBP12.6
MMRRC Submission 043085-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.364) question?
Stock # R5527 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 4883174-4891591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4883746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 83 (Y83C)
Ref Sequence ENSEMBL: ENSMUSP00000020964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020964] [ENSMUST00000219880]
AlphaFold Q9Z2I2
Predicted Effect probably damaging
Transcript: ENSMUST00000020964
AA Change: Y83C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020964
Gene: ENSMUSG00000020635
AA Change: Y83C

DomainStartEndE-ValueType
Pfam:FKBP_C 13 105 1.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219880
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.7%
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 the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele display exercise-induced sudden cardiac death. Homozygotes for a second null allele show impaired glucose tolerance and glucose-driven insulin secretion. Homozygotes for a third null allele show Ca2+ dysregulation and male-specific cardiac hypertrophy and hypertension. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,278,842 (GRCm39) Y1051N probably benign Het
Bach1 T C 16: 87,516,433 (GRCm39) S325P probably benign Het
Baz2a T C 10: 127,960,786 (GRCm39) S1529P probably damaging Het
Bicd1 T C 6: 149,396,134 (GRCm39) L168P probably damaging Het
Cat A G 2: 103,303,318 (GRCm39) F153S probably damaging Het
Ccnt2 T C 1: 127,730,401 (GRCm39) M426T probably benign Het
Cdk7 C T 13: 100,866,980 (GRCm39) V38I probably damaging Het
Cenpj T C 14: 56,764,440 (GRCm39) Y1324C probably damaging Het
Cplane2 C A 4: 140,947,303 (GRCm39) A228D probably damaging Het
Ddx47 C A 6: 134,988,657 (GRCm39) A18E probably benign Het
Dnah2 G A 11: 69,328,014 (GRCm39) Q3370* probably null Het
Dnah6 C T 6: 73,136,212 (GRCm39) V976I probably benign Het
Dock7 C T 4: 98,842,105 (GRCm39) probably benign Het
Dpy19l3 A T 7: 35,413,555 (GRCm39) I362N possibly damaging Het
Fam118a A T 15: 84,942,999 (GRCm39) T343S probably benign Het
Fcgbp T A 7: 27,793,060 (GRCm39) D1021E probably benign Het
Flt4 T C 11: 49,525,581 (GRCm39) I709T probably damaging Het
Gga3 G T 11: 115,478,262 (GRCm39) A510D probably damaging Het
Heatr1 T C 13: 12,417,641 (GRCm39) I264T probably damaging Het
Heatr1 T C 13: 12,419,829 (GRCm39) I384T probably benign Het
Hes2 T C 4: 152,244,849 (GRCm39) V106A probably benign Het
Igf1r T A 7: 67,857,569 (GRCm39) M1083K probably damaging Het
Il7r A T 15: 9,513,010 (GRCm39) D166E probably benign Het
Ipo4 G A 14: 55,869,507 (GRCm39) probably null Het
Klk1b26 T C 7: 43,662,187 (GRCm39) I15T probably benign Het
Krt42 T C 11: 100,154,121 (GRCm39) probably benign Het
Lag3 T C 6: 124,885,592 (GRCm39) T263A probably damaging Het
Lilra6 T A 7: 3,917,586 (GRCm39) probably benign Het
Lrrc31 T A 3: 30,745,377 (GRCm39) H90L probably damaging Het
Lvrn G A 18: 47,006,870 (GRCm39) D331N probably damaging Het
Me2 A T 18: 73,924,187 (GRCm39) W342R probably damaging Het
Mob2 A G 7: 141,563,147 (GRCm39) F220S probably damaging Het
Mroh4 A G 15: 74,486,865 (GRCm39) I342T probably damaging Het
Naa15 T C 3: 51,349,368 (GRCm39) Y46H probably damaging Het
Neb A G 2: 52,224,465 (GRCm39) V10A unknown Het
Nlrc5 A G 8: 95,217,044 (GRCm39) H1011R probably damaging Het
Nr1i3 A G 1: 171,041,921 (GRCm39) T2A possibly damaging Het
Nrros T C 16: 31,963,288 (GRCm39) N207S probably damaging Het
Or52m2 A T 7: 102,263,768 (GRCm39) S143T probably benign Het
Or7c70 C T 10: 78,683,609 (GRCm39) V47M probably benign Het
Pcare A T 17: 72,059,635 (GRCm39) V14D probably damaging Het
Ptprz1 C T 6: 23,000,052 (GRCm39) T714I possibly damaging Het
Rp1 T C 1: 4,416,616 (GRCm39) T1499A possibly damaging Het
Rubcn T C 16: 32,647,081 (GRCm39) K771E probably damaging Het
Sbds T C 5: 130,275,247 (GRCm39) E227G possibly damaging Het
Setd1a C T 7: 127,384,801 (GRCm39) P8S probably damaging Het
Sh3tc2 A G 18: 62,144,932 (GRCm39) I1129V probably benign Het
Spef1 T A 2: 131,014,661 (GRCm39) D87V probably damaging Het
Supv3l1 C T 10: 62,265,608 (GRCm39) R644Q probably damaging Het
Thoc6 A G 17: 23,889,769 (GRCm39) F51S probably damaging Het
Tm4sf19 T C 16: 32,226,739 (GRCm39) L176P probably damaging Het
Tma16 A G 8: 66,936,776 (GRCm39) I17T possibly damaging Het
Tpd52l2 G A 2: 181,143,847 (GRCm39) probably null Het
Ube2j1 C T 4: 33,045,164 (GRCm39) P146S probably benign Het
Ubr4 T A 4: 139,208,099 (GRCm39) I4960N possibly damaging Het
Usp13 A G 3: 32,919,987 (GRCm39) D224G probably damaging Het
Uxs1 T C 1: 43,819,240 (GRCm39) T188A probably damaging Het
Vmn2r12 A T 5: 109,234,483 (GRCm39) Y576* probably null Het
Vmn2r73 T C 7: 85,507,575 (GRCm39) D579G possibly damaging Het
Xpr1 T C 1: 155,165,981 (GRCm39) N524D probably benign Het
Xrn2 A T 2: 146,871,675 (GRCm39) I366L probably benign Het
Zfp236 A T 18: 82,676,159 (GRCm39) V386E possibly damaging Het
Zfp292 A T 4: 34,806,261 (GRCm39) L2261Q probably damaging Het
Zpld1 C G 16: 55,046,725 (GRCm39) E415Q probably benign Het
Other mutations in Fkbp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Fkbp1b APN 12 4,883,726 (GRCm39) missense probably damaging 0.96
IGL03375:Fkbp1b APN 12 4,888,220 (GRCm39) splice site probably benign
R0270:Fkbp1b UTSW 12 4,888,229 (GRCm39) splice site probably benign
R5512:Fkbp1b UTSW 12 4,888,183 (GRCm39) missense probably benign 0.09
R8984:Fkbp1b UTSW 12 4,891,401 (GRCm39) missense probably damaging 0.98
R9406:Fkbp1b UTSW 12 4,883,732 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATCAAGAGCCCTACATAGGAGG -3'
(R):5'- TTGGATGAGGCTGAGGCTAC -3'

Sequencing Primer
(F):5'- TACATAGGAGGAGCCGTCC -3'
(R):5'- AGCTAAAGTTTAGTGTGCCCC -3'
Posted On 2016-10-05