Incidental Mutation 'R5495:Fkbp7'
ID 432271
Institutional Source Beutler Lab
Gene Symbol Fkbp7
Ensembl Gene ENSMUSG00000002732
Gene Name FK506 binding protein 7
Synonyms FKBP23
MMRRC Submission 043056-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5495 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 76493378-76503442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76493638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 185 (Y185C)
Ref Sequence ENSEMBL: ENSMUSP00000002809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002809] [ENSMUST00000099986] [ENSMUST00000176815]
AlphaFold O54998
Predicted Effect probably damaging
Transcript: ENSMUST00000002809
AA Change: Y185C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002809
Gene: ENSMUSG00000002732
AA Change: Y185C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:FKBP_C 42 138 7e-31 PFAM
EFh 145 173 1.83e1 SMART
EFh 189 217 5.38e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099986
SMART Domains Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267

DomainStartEndE-ValueType
Pfam:Gasdermin 1 278 7.9e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154097
Predicted Effect probably benign
Transcript: ENSMUST00000176815
SMART Domains Protein: ENSMUSP00000135000
Gene: ENSMUSG00000002732

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:FKBP_C 42 123 3.6e-22 PFAM
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
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 belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T C 7: 27,335,594 (GRCm39) probably null Het
Arhgap29 T G 3: 121,808,578 (GRCm39) M844R probably damaging Het
Atp1a1 T G 3: 101,498,741 (GRCm39) D184A probably benign Het
Bcl11a T A 11: 24,115,042 (GRCm39) V795E possibly damaging Het
Casp12 T A 9: 5,353,797 (GRCm39) I277N possibly damaging Het
Ccdc59 A G 10: 105,681,239 (GRCm39) K164E probably damaging Het
D630003M21Rik C T 2: 158,062,431 (GRCm39) G30S possibly damaging Het
Dgkd A G 1: 87,854,594 (GRCm39) D632G probably damaging Het
Efr3a A G 15: 65,687,258 (GRCm39) K56E possibly damaging Het
Egflam T A 15: 7,280,722 (GRCm39) R434S probably damaging Het
Fancl C G 11: 26,347,801 (GRCm39) A51G probably damaging Het
Galc A G 12: 98,197,673 (GRCm39) probably null Het
Galnt15 A G 14: 31,751,774 (GRCm39) S109G probably damaging Het
Gramd2b T C 18: 56,615,694 (GRCm39) I163T probably damaging Het
Impa1 A G 3: 10,391,230 (GRCm39) V80A probably benign Het
Itga10 T C 3: 96,554,687 (GRCm39) M56T possibly damaging Het
Larp1b G T 3: 40,990,257 (GRCm39) R135I probably damaging Het
Lgals12 C T 19: 7,581,495 (GRCm39) A71T probably damaging Het
Lmbr1 A T 5: 29,551,851 (GRCm39) L78* probably null Het
Lrat C A 3: 82,804,289 (GRCm39) M229I probably benign Het
Mug2 A T 6: 122,056,609 (GRCm39) M1185L probably damaging Het
Naprt T C 15: 75,765,696 (GRCm39) probably null Het
Nfat5 A G 8: 108,095,079 (GRCm39) I1107V probably benign Het
Nr4a2 T C 2: 57,002,387 (GRCm39) Y22C probably damaging Het
Ogfod1 C A 8: 94,790,906 (GRCm39) Q526K probably benign Het
Or2d4 C A 7: 106,543,699 (GRCm39) G170* probably null Het
Or3a10 G A 11: 73,935,611 (GRCm39) T163I probably damaging Het
Or4p21 T C 2: 88,276,401 (GRCm39) T294A probably benign Het
Or8g36 T C 9: 39,422,441 (GRCm39) T192A probably benign Het
Parp10 T G 15: 76,127,366 (GRCm39) I24L probably benign Het
Pcdha11 A G 18: 37,144,079 (GRCm39) T57A probably benign Het
Prdm8 A G 5: 98,333,165 (GRCm39) E244G possibly damaging Het
Prl6a1 T C 13: 27,496,654 (GRCm39) S3P possibly damaging Het
Rab11fip3 T A 17: 26,235,117 (GRCm39) T18S probably damaging Het
Rfc4 T C 16: 22,941,004 (GRCm39) probably benign Het
Rubcnl G T 14: 75,279,777 (GRCm39) V387F possibly damaging Het
S100a7l2 A T 3: 90,997,602 (GRCm39) L38M possibly damaging Het
Serpinb12 T C 1: 106,884,151 (GRCm39) L299P probably damaging Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Taar4 A T 10: 23,837,181 (GRCm39) I264F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Thsd7b T A 1: 129,523,570 (GRCm39) H124Q probably damaging Het
Ugt1a6a A T 1: 88,066,746 (GRCm39) Q184L probably benign Het
Vnn1 T A 10: 23,774,462 (GRCm39) F168L probably damaging Het
Zan A G 5: 137,468,670 (GRCm39) L267P probably damaging Het
Zswim8 A G 14: 20,772,354 (GRCm39) S1621G probably damaging Het
Other mutations in Fkbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Fkbp7 APN 2 76,503,252 (GRCm39) nonsense probably null
R0384:Fkbp7 UTSW 2 76,496,168 (GRCm39) splice site probably benign
R0627:Fkbp7 UTSW 2 76,503,188 (GRCm39) missense probably damaging 1.00
R3981:Fkbp7 UTSW 2 76,493,601 (GRCm39) missense probably damaging 1.00
R4232:Fkbp7 UTSW 2 76,493,661 (GRCm39) missense possibly damaging 0.64
R4679:Fkbp7 UTSW 2 76,502,032 (GRCm39) splice site probably benign
R6703:Fkbp7 UTSW 2 76,502,106 (GRCm39) missense probably damaging 1.00
R7296:Fkbp7 UTSW 2 76,502,108 (GRCm39) missense possibly damaging 0.84
R8839:Fkbp7 UTSW 2 76,497,581 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TTCTCACAAGGGAAAACAGGTATAACC -3'
(R):5'- TCCTTGCCCCATAAACAATTAGATC -3'

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