Incidental Mutation 'R8191:Fkbp1a'
ID 635133
Institutional Source Beutler Lab
Gene Symbol Fkbp1a
Ensembl Gene ENSMUSG00000032966
Gene Name FK506 binding protein 1a
Synonyms FKBP12, Fkbp1, Fkbp
MMRRC Submission 067614-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8191 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 151384403-151403611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 151399356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 98 (P98S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044011]
AlphaFold P26883
Predicted Effect probably damaging
Transcript: ENSMUST00000044011
AA Change: P46S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037206
Gene: ENSMUSG00000032966
AA Change: P46S

DomainStartEndE-ValueType
Pfam:FKBP_C 13 105 1.3e-35 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000118725
Gene: ENSMUSG00000032966
AA Change: P98S

DomainStartEndE-ValueType
Pfam:FKBP_C 77 158 1.2e-30 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the immunophilin family. The encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, and is associated with immunoregulation, protein folding, receptor signaling, protein trafficking and T-cell activation. It may modulate the calcium release activity of the ryanodine receptor Ryr1. It also interacts with the type I TGF-beta receptor. Disruption of this gene in mouse causes severe ventricular defects. Pseudogenes of this gene have been defined on chromosomes 4, 10, 14, and 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a null allele display embryonic and neonatal lethality and dilated cardiomyopathy associated with ventricular septal defects, myocardial noncompaction, a thin ventricular wall, hypertrophic trabeculae, and liver hemorrhage and necrosis; about 9% show neural tube closure defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik G A 16: 3,724,918 (GRCm39) R49W probably damaging Het
Adamts4 T C 1: 171,080,292 (GRCm39) S282P Het
Aqp4 A G 18: 15,531,222 (GRCm39) S180P probably benign Het
Armc2 T G 10: 41,839,747 (GRCm39) E406A probably benign Het
Atp13a3 A T 16: 30,168,598 (GRCm39) Y464N probably damaging Het
B3gnt3 C A 8: 72,146,122 (GRCm39) V136L probably benign Het
Cacna1s C T 1: 136,035,893 (GRCm39) H1378Y probably damaging Het
Ccnk A T 12: 108,159,933 (GRCm39) E138D probably benign Het
Cenpe A G 3: 134,957,375 (GRCm39) K1878E probably benign Het
Cep57l1 T A 10: 41,616,955 (GRCm39) I111L probably damaging Het
Cfap298 G T 16: 90,727,889 (GRCm39) N100K probably damaging Het
Copg2 T C 6: 30,790,665 (GRCm39) I509V probably benign Het
Cux2 T A 5: 122,012,217 (GRCm39) D406V probably benign Het
Cyp2a12 G T 7: 26,730,529 (GRCm39) A165S probably benign Het
Dnaaf5 T G 5: 139,167,250 (GRCm39) S719A probably benign Het
Dnah7c A G 1: 46,646,618 (GRCm39) I1220V possibly damaging Het
Dnai3 G T 3: 145,800,066 (GRCm39) P158H probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dusp10 T A 1: 183,769,749 (GRCm39) D238E possibly damaging Het
Dync1li1 C A 9: 114,538,253 (GRCm39) D203E probably benign Het
Ecpas A T 4: 58,872,587 (GRCm39) probably null Het
Eif5b T C 1: 38,075,283 (GRCm39) S587P probably damaging Het
Ephb2 G A 4: 136,386,256 (GRCm39) T832I probably damaging Het
Exoc1 T A 5: 76,707,674 (GRCm39) probably null Het
Fam193a T A 5: 34,597,917 (GRCm39) N571K probably damaging Het
Fem1a T A 17: 56,565,356 (GRCm39) I483N probably damaging Het
Fgf20 C A 8: 40,761,361 (GRCm39) probably benign Het
Gpsm3 A T 17: 34,809,451 (GRCm39) D19V probably benign Het
Ido2 C A 8: 25,023,696 (GRCm39) G381W probably damaging Het
Ifi204 T C 1: 173,579,226 (GRCm39) T540A possibly damaging Het
Isl1 A T 13: 116,441,954 (GRCm39) M93K probably benign Het
Map3k10 T A 7: 27,362,671 (GRCm39) S472C probably damaging Het
Mcrs1 A T 15: 99,141,206 (GRCm39) V432E probably damaging Het
Metap2 A G 10: 93,701,267 (GRCm39) probably null Het
Muc5b A G 7: 141,421,421 (GRCm39) S4304G probably benign Het
Myef2l G T 3: 10,153,914 (GRCm39) V228F probably damaging Het
Nell1 T C 7: 50,098,622 (GRCm39) V308A unknown Het
Or10g1b A G 14: 52,627,987 (GRCm39) V81A probably benign Het
Or4d5 A T 9: 40,012,767 (GRCm39) H6Q probably benign Het
Plxna4 C A 6: 32,493,885 (GRCm39) V244F possibly damaging Het
Pnpla6 T C 8: 3,592,382 (GRCm39) S1224P probably benign Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rnpep T C 1: 135,200,172 (GRCm39) E261G possibly damaging Het
Robo1 C A 16: 72,730,142 (GRCm39) S194R probably damaging Het
Rpusd1 C G 17: 25,947,611 (GRCm39) Y99* probably null Het
Scarf1 T C 11: 75,413,065 (GRCm39) M437T probably benign Het
Sh3tc2 G T 18: 62,106,429 (GRCm39) D153Y probably damaging Het
Siglec1 T C 2: 130,927,599 (GRCm39) Y69C probably damaging Het
Slc25a34 T C 4: 141,347,895 (GRCm39) Y262C probably damaging Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
St6galnac2 T C 11: 116,572,748 (GRCm39) Y236C probably damaging Het
Stac3 T A 10: 127,344,068 (GRCm39) I322N probably damaging Het
Tcaf1 T C 6: 42,652,190 (GRCm39) Q764R probably damaging Het
Tcf20 G A 15: 82,737,606 (GRCm39) R1282* probably null Het
Tlr2 T A 3: 83,743,821 (GRCm39) K754M probably damaging Het
Tlr2 T G 3: 83,743,822 (GRCm39) K754Q probably damaging Het
Tnn C T 1: 159,953,088 (GRCm39) V651M probably damaging Het
Ttn T C 2: 76,701,083 (GRCm39) H9622R unknown Het
Tubgcp6 C T 15: 89,004,843 (GRCm39) G259S probably damaging Het
Ubr5 C A 15: 38,006,751 (GRCm39) C1174F Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Vit C T 17: 78,853,828 (GRCm39) H25Y probably benign Het
Vmn1r177 G A 7: 23,565,736 (GRCm39) Q47* probably null Het
Vmn2r104 A T 17: 20,250,465 (GRCm39) V602D possibly damaging Het
Vmn2r115 A G 17: 23,578,530 (GRCm39) T668A probably damaging Het
Vmn2r125 T G 4: 156,703,709 (GRCm39) C362W probably damaging Het
Vwa7 A G 17: 35,238,712 (GRCm39) T267A probably damaging Het
Xpa C A 4: 46,183,225 (GRCm39) R188L possibly damaging Het
Zfp143 C T 7: 109,676,364 (GRCm39) T249I probably damaging Het
Zfp607a A G 7: 27,578,868 (GRCm39) E646G possibly damaging Het
Zfp729a A T 13: 67,769,838 (GRCm39) S130R probably benign Het
Zswim3 C A 2: 164,662,128 (GRCm39) Q203K probably damaging Het
Other mutations in Fkbp1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7033:Fkbp1a UTSW 2 151,399,420 (GRCm39) critical splice donor site probably null
RF011:Fkbp1a UTSW 2 151,384,619 (GRCm39) start codon destroyed probably null
RF046:Fkbp1a UTSW 2 151,384,618 (GRCm39) start codon destroyed probably null
RF060:Fkbp1a UTSW 2 151,384,619 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- CCAAGATGAGATGCCTGACCAG -3'
(R):5'- CAAGGAAAGTAGATTTGTGCGC -3'

Sequencing Primer
(F):5'- AGGCATACTGACGCTGCTG -3'
(R):5'- TCTAGTTCCAGGGAATCCAGAGTC -3'
Posted On 2020-07-13