Incidental Mutation 'R6703:Fkbp7'
ID 528259
Institutional Source Beutler Lab
Gene Symbol Fkbp7
Ensembl Gene ENSMUSG00000002732
Gene Name FK506 binding protein 7
Synonyms FKBP23
MMRRC Submission 044821-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6703 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 76493378-76503442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76502106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 99 (M99K)
Ref Sequence ENSEMBL: ENSMUSP00000135000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002809] [ENSMUST00000111920] [ENSMUST00000176815]
AlphaFold O54998
Predicted Effect probably damaging
Transcript: ENSMUST00000002809
AA Change: M99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002809
Gene: ENSMUSG00000002732
AA Change: M99K

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: ENSMUST00000111920
SMART Domains Protein: ENSMUSP00000107551
Gene: ENSMUSG00000002733

DomainStartEndE-ValueType
PH 1 95 4.85e-12 SMART
Blast:PH 106 177 5e-13 BLAST
low complexity region 189 203 N/A INTRINSIC
low complexity region 215 224 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147355
Predicted Effect probably damaging
Transcript: ENSMUST00000176815
AA Change: M99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135000
Gene: ENSMUSG00000002732
AA Change: M99K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:FKBP_C 42 123 3.6e-22 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 99% (73/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T A 10: 21,497,558 (GRCm39) Y66* probably null Het
Akap13 T C 7: 75,252,646 (GRCm39) S259P probably damaging Het
Aoc1 A C 6: 48,882,648 (GRCm39) T197P probably damaging Het
Blnk A T 19: 40,950,950 (GRCm39) probably null Het
Ccser1 A T 6: 61,615,495 (GRCm39) K94* probably null Het
Cfap54 T A 10: 92,704,596 (GRCm39) D2828V unknown Het
Clec4n A G 6: 123,212,553 (GRCm39) Q89R probably null Het
Col6a3 T C 1: 90,707,161 (GRCm39) D1984G unknown Het
Col6a3 C T 1: 90,720,184 (GRCm39) R1552Q probably benign Het
Csnk2a1 A G 2: 152,100,608 (GRCm39) T93A probably benign Het
Dna2 T A 10: 62,809,073 (GRCm39) I1055N possibly damaging Het
Dnm3 A G 1: 162,146,256 (GRCm39) F296L probably benign Het
Dock7 T C 4: 98,834,909 (GRCm39) E1822G probably damaging Het
Dpyd A T 3: 118,690,849 (GRCm39) probably null Het
Dyrk4 A T 6: 126,867,045 (GRCm39) I329N probably damaging Het
E4f1 C A 17: 24,666,105 (GRCm39) R231L probably damaging Het
Fat1 A G 8: 45,406,083 (GRCm39) T945A probably benign Het
Flad1 T C 3: 89,315,897 (GRCm39) S222G probably benign Het
H1f7 C A 15: 98,155,153 (GRCm39) probably benign Het
Ighg2b T C 12: 113,268,653 (GRCm39) probably benign Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Itln1 C T 1: 171,358,151 (GRCm39) C199Y probably damaging Het
Kctd3 G A 1: 188,728,726 (GRCm39) R137C probably damaging Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Larp7 C T 3: 127,337,873 (GRCm39) M395I probably damaging Het
Lpcat3 C T 6: 124,640,185 (GRCm39) A5V probably benign Het
Lrrc43 C T 5: 123,637,532 (GRCm39) T233M possibly damaging Het
Map4k1 T G 7: 28,701,821 (GRCm39) S803A possibly damaging Het
Mef2c T A 13: 83,773,525 (GRCm39) C134S possibly damaging Het
Mgst2 T C 3: 51,572,033 (GRCm39) probably null Het
Mug2 T G 6: 122,055,653 (GRCm39) I1112R probably benign Het
Myo15a A G 11: 60,383,818 (GRCm39) I1622V probably benign Het
Ndor1 A G 2: 25,139,902 (GRCm39) F142S possibly damaging Het
Nectin3 A G 16: 46,284,205 (GRCm39) S160P probably damaging Het
Nudt16l2 T C 9: 105,021,758 (GRCm39) Y96C possibly damaging Het
Nynrin A G 14: 56,101,935 (GRCm39) T535A possibly damaging Het
Or2m13 T C 16: 19,226,122 (GRCm39) I215V probably benign Het
Or4k15 A G 14: 50,364,688 (GRCm39) Y218C probably damaging Het
Or4k42 T A 2: 111,320,454 (GRCm39) probably null Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Pcdh10 G A 3: 45,335,734 (GRCm39) V683M possibly damaging Het
Per2 C T 1: 91,355,671 (GRCm39) E696K probably damaging Het
Pif1 T C 9: 65,500,545 (GRCm39) V490A probably damaging Het
Plekhn1 A T 4: 156,309,250 (GRCm39) Y219N probably benign Het
Ppl T G 16: 4,907,328 (GRCm39) E989A probably damaging Het
Prkdc T G 16: 15,488,392 (GRCm39) S505A probably benign Het
Psg16 T C 7: 16,824,321 (GRCm39) L35P probably damaging Het
Ptges A G 2: 30,793,133 (GRCm39) V33A possibly damaging Het
Qser1 G A 2: 104,607,670 (GRCm39) T1416I possibly damaging Het
Rab3a A G 8: 71,209,095 (GRCm39) D77G probably damaging Het
Rtn3 A T 19: 7,412,410 (GRCm39) V788D probably damaging Het
Rtn4r T C 16: 17,969,055 (GRCm39) L161P probably damaging Het
Rtn4rl1 G A 11: 75,156,354 (GRCm39) R262Q probably benign Het
S1pr3 A T 13: 51,573,475 (GRCm39) I219F probably damaging Het
Sec23b A T 2: 144,401,109 (GRCm39) probably null Het
Senp6 A G 9: 80,029,203 (GRCm39) E522G probably damaging Het
Slc27a6 A G 18: 58,742,911 (GRCm39) N533S probably benign Het
Slc39a5 T A 10: 128,233,651 (GRCm39) D282V probably damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx14 A G 9: 88,304,967 (GRCm39) I109T probably damaging Het
Sorl1 A T 9: 41,982,497 (GRCm39) V361E probably damaging Het
Sox5 G T 6: 143,779,191 (GRCm39) S648R probably damaging Het
Sptbn2 G A 19: 4,799,842 (GRCm39) S2161N probably benign Het
Sptbn2 C A 19: 4,799,843 (GRCm39) S2161R probably benign Het
St6galnac2 A G 11: 116,575,213 (GRCm39) S209P probably benign Het
Tmub1 T C 5: 24,651,944 (GRCm39) S7G probably benign Het
Trarg1 A T 11: 76,584,988 (GRCm39) probably null Het
Trpm5 C A 7: 142,623,055 (GRCm39) probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp438 A G 18: 5,214,044 (GRCm39) S305P probably benign Het
Zfp780b T C 7: 27,671,066 (GRCm39) T81A possibly 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
R5495:Fkbp7 UTSW 2 76,493,638 (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'- GTGGACTGTGCTGTTACTGAGAAC -3'
(R):5'- TTCCAGTCTTAAGTAACAAGTGCC -3'

Sequencing Primer
(F):5'- GCTGTTACTGAGAACATAGATATGC -3'
(R):5'- GTCTTAAGTAACAAGTGCCTGAGCTG -3'
Posted On 2018-07-24