Mutagenetix > Incidental Mutation

Incidental Mutation 'R7027:Fkbp5'

546082

Institutional Source

Beutler Lab

Gene Symbol

Fkbp5

Ensembl Gene

ENSMUSG00000024222

Gene Name

FK506 binding protein 5

Synonyms

D17Ertd592e, FKBP51, Dit1

MMRRC Submission

045128-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28617727-28705123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28631037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 243 (Y243H)

Ref Sequence

ENSEMBL: ENSMUSP00000136245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079413] [ENSMUST00000114792] [ENSMUST00000153744] [ENSMUST00000177939]

AlphaFold

Q64378

Predicted Effect

probably damaging
Transcript: ENSMUST00000079413
AA Change: Y243H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: Y243H

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	43	135	7.1e-31	PFAM
Pfam:FKBP_C	158	248	2.1e-14	PFAM
TPR	268	301	9.48e1	SMART
TPR	317	350	1.45e-6	SMART
TPR	351	384	1.23e-4	SMART
low complexity region	421	440	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114792
AA Change: Y243H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: Y243H

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	43	135	7.1e-31	PFAM
Pfam:FKBP_C	158	248	2.1e-14	PFAM
TPR	268	301	9.48e1	SMART
TPR	317	350	1.45e-6	SMART
TPR	351	384	1.23e-4	SMART
low complexity region	421	440	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153744

SMART Domains

Protein: ENSMUSP00000116466
Gene: ENSMUSG00000024222

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	43	135	8e-32	PFAM
internal_repeat_1	138	182	6.75e-5	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000177939
AA Change: Y243H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: Y243H

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	43	135	8.8e-32	PFAM
Pfam:FKBP_C	158	248	1.8e-15	PFAM
TPR	268	301	9.48e1	SMART
TPR	317	350	1.45e-6	SMART
TPR	351	384	1.23e-4	SMART
low complexity region	421	440	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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 is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null allele are normal and fertile. Mice homozygous for another knock-out allele exhibit decreased depression-related behavior and increased anxiety-related behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	T	2: 127,852,003 (GRCm39)	M102L	probably benign	Het
Adcy10	A	G	1: 165,345,815 (GRCm39)	E288G	probably damaging	Het
Agap1	A	G	1: 89,816,444 (GRCm39)	H748R	probably benign	Het
Ahsg	T	C	16: 22,711,007 (GRCm39)	L48P	probably damaging	Het
Ankrd27	A	G	7: 35,311,951 (GRCm39)	T394A	probably benign	Het
Apc	T	G	18: 34,445,129 (GRCm39)	V657G	probably damaging	Het
Arl2	T	C	19: 6,191,119 (GRCm39)	T5A	probably benign	Het
B020011L13Rik	A	G	1: 117,729,180 (GRCm39)	Y229C	probably benign	Het
B3gnt5	T	A	16: 19,588,740 (GRCm39)	S320T	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
BC107364	T	G	3: 96,348,057 (GRCm39)	R77S	unknown	Het
Brox	G	A	1: 183,065,750 (GRCm39)	P206L	possibly damaging	Het
Ccrl2	T	C	9: 110,884,953 (GRCm39)	K182E	probably benign	Het
Cd19	A	G	7: 126,009,671 (GRCm39)	V465A	possibly damaging	Het
Chrdl2	A	T	7: 99,671,240 (GRCm39)	Q126H	probably damaging	Het
Cnbd1	G	A	4: 18,862,063 (GRCm39)	P376S	probably benign	Het
Cobll1	A	G	2: 64,919,847 (GRCm39)	S1194P	probably benign	Het
Col6a4	T	C	9: 105,944,213 (GRCm39)	Y1087C	probably damaging	Het
Col9a2	G	A	4: 120,901,216 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,763,289 (GRCm39)	S341P	possibly damaging	Het
Dnah7a	T	A	1: 53,670,665 (GRCm39)	Y529F	probably benign	Het
Eif3b	C	T	5: 140,411,043 (GRCm39)	R165W	probably damaging	Het
Erlec1	C	A	11: 30,900,790 (GRCm39)	C126F	probably damaging	Het
Fads2b	A	G	2: 85,315,871 (GRCm39)	Y440H	probably damaging	Het
Fat2	T	C	11: 55,160,259 (GRCm39)	T3285A	probably benign	Het
Fat2	G	A	11: 55,172,677 (GRCm39)	R2679*	probably null	Het
Fbxo31	T	C	8: 122,305,224 (GRCm39)	T91A	probably damaging	Het
Flcn	C	T	11: 59,686,632 (GRCm39)	V374M	probably damaging	Het
Fndc5	A	G	4: 129,033,316 (GRCm39)	M128V	probably benign	Het
Gal3st1	A	G	11: 3,949,002 (GRCm39)	D403G	probably damaging	Het
Garem1	T	C	18: 21,263,051 (GRCm39)	N588D	probably benign	Het
Gas1	T	C	13: 60,324,047 (GRCm39)	T196A	probably damaging	Het
Gcn1	T	C	5: 115,754,605 (GRCm39)		probably null	Het
Gprc5d	T	G	6: 135,093,646 (GRCm39)	Q87P	probably damaging	Het
Grm1	A	G	10: 10,595,339 (GRCm39)	L763P	probably damaging	Het
Hivep2	G	T	10: 14,025,321 (GRCm39)	K2378N	probably damaging	Het
Hivep2	G	T	10: 14,025,322 (GRCm39)	D2379Y	probably damaging	Het
Itgad	A	G	7: 127,782,161 (GRCm39)	Y199C	probably damaging	Het
Itm2c	A	G	1: 85,834,206 (GRCm39)	I174V	probably benign	Het
Khdrbs2	A	G	1: 32,453,997 (GRCm39)	S128G	probably benign	Het
Map3k9	T	C	12: 81,777,398 (GRCm39)	T528A	probably benign	Het
Mmp11	G	A	10: 75,768,230 (GRCm39)		probably benign	Het
Mycbpap	T	A	11: 94,405,440 (GRCm39)	I30F	probably damaging	Het
Nfya	T	C	17: 48,696,340 (GRCm39)	T335A	probably benign	Het
Npat	T	A	9: 53,481,216 (GRCm39)	S1008T	possibly damaging	Het
Or10al5	G	A	17: 38,063,300 (GRCm39)	C185Y	probably damaging	Het
Or12e10	A	G	2: 87,641,060 (GRCm39)	T299A	possibly damaging	Het
Or5p69	A	T	7: 107,967,557 (GRCm39)	M287L	probably damaging	Het
Or6c219	C	T	10: 129,781,041 (GRCm39)	A297T	possibly damaging	Het
Osbpl10	T	C	9: 115,052,766 (GRCm39)	V613A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,164 (GRCm39)	W407R	probably benign	Het
Pcdhgb4	A	G	18: 37,854,415 (GRCm39)	D270G	probably damaging	Het
Pde2a	A	C	7: 101,160,804 (GRCm39)	E918D	probably damaging	Het
Plekhg5	A	G	4: 152,198,431 (GRCm39)	D873G	probably benign	Het
Pno1	A	T	11: 17,158,880 (GRCm39)	S173T	possibly damaging	Het
Ppfia3	A	G	7: 45,004,160 (GRCm39)	I494T	possibly damaging	Het
Prkrip1	C	A	5: 136,210,267 (GRCm39)		probably benign	Het
Psma5	A	G	3: 108,172,484 (GRCm39)	I67V	probably benign	Het
Reep6	G	A	10: 80,169,799 (GRCm39)		probably null	Het
Rtl1	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	12: 109,557,848 (GRCm39)		probably benign	Het
Scyl2	C	G	10: 89,481,323 (GRCm39)		probably null	Het
Sdk1	T	A	5: 142,082,481 (GRCm39)		probably null	Het
Senp5	C	A	16: 31,808,113 (GRCm39)	K380N	probably benign	Het
Slc22a14	A	T	9: 119,060,281 (GRCm39)		probably null	Het
Slc26a5	T	A	5: 22,021,972 (GRCm39)	T485S	possibly damaging	Het
Slc44a5	T	C	3: 153,959,356 (GRCm39)	I349T	probably benign	Het
Smarca5	T	C	8: 81,463,355 (GRCm39)	E71G	probably benign	Het
Smok2a	A	T	17: 13,444,666 (GRCm39)	H81L	probably damaging	Het
Snrnp200	A	G	2: 127,059,192 (GRCm39)	D388G	probably benign	Het
Tank	T	C	2: 61,483,766 (GRCm39)	V404A	probably benign	Het
Tek	A	G	4: 94,753,747 (GRCm39)	D1063G	probably damaging	Het
Tfap2a	C	T	13: 40,887,150 (GRCm39)	C16Y	probably benign	Het
Tmc1	A	G	19: 20,918,267 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,902,826 (GRCm39)	F1484L	probably benign	Het
Tnfsf13	T	A	11: 69,575,958 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,624,444 (GRCm39)	S919T	probably damaging	Het
Trim17	C	A	11: 58,859,442 (GRCm39)	Q219K	probably benign	Het
Trim5	T	A	7: 103,914,875 (GRCm39)	H389L	probably benign	Het
Trio	T	A	15: 27,805,740 (GRCm39)	M583L	possibly damaging	Het
Ttll10	A	T	4: 156,120,258 (GRCm39)	H389Q	possibly damaging	Het
Usp24	T	C	4: 106,219,441 (GRCm39)	S546P	probably benign	Het
Vmn1r19	T	A	6: 57,381,475 (GRCm39)	Y9*	probably null	Het
Vmn2r50	T	A	7: 9,781,539 (GRCm39)	D402V	probably damaging	Het
Vmn2r93	C	A	17: 18,533,548 (GRCm39)	A484E	probably benign	Het
Vps13a	T	C	19: 16,642,028 (GRCm39)	T2200A	probably benign	Het
Wdr36	T	A	18: 32,974,958 (GRCm39)	H103Q	probably benign	Het
Zfp534	G	A	4: 147,759,667 (GRCm39)	T334I	possibly damaging	Het
Zfp804b	C	T	5: 6,820,372 (GRCm39)	S897N	probably benign	Het

Other mutations in Fkbp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Fkbp5	APN	17	28,620,020 (GRCm39)	utr 3 prime	probably benign
IGL03104:Fkbp5	APN	17	28,634,946 (GRCm39)	missense	probably damaging	1.00
R0242:Fkbp5	UTSW	17	28,647,426 (GRCm39)	missense	probably benign	0.01
R0242:Fkbp5	UTSW	17	28,647,426 (GRCm39)	missense	probably benign	0.01
R0531:Fkbp5	UTSW	17	28,657,003 (GRCm39)	missense	probably benign	0.00
R1557:Fkbp5	UTSW	17	28,621,729 (GRCm39)	missense	probably damaging	0.96
R1853:Fkbp5	UTSW	17	28,648,281 (GRCm39)	missense	possibly damaging	0.82
R2102:Fkbp5	UTSW	17	28,625,162 (GRCm39)	missense	possibly damaging	0.81
R2194:Fkbp5	UTSW	17	28,657,001 (GRCm39)	missense	probably benign	0.32
R3522:Fkbp5	UTSW	17	28,634,970 (GRCm39)	missense	probably benign	0.00
R4959:Fkbp5	UTSW	17	28,647,343 (GRCm39)	missense	probably damaging	1.00
R4973:Fkbp5	UTSW	17	28,647,343 (GRCm39)	missense	probably damaging	1.00
R5164:Fkbp5	UTSW	17	28,656,964 (GRCm39)	critical splice donor site	probably null
R6053:Fkbp5	UTSW	17	28,647,440 (GRCm39)	missense	probably benign	0.00
R6443:Fkbp5	UTSW	17	28,648,253 (GRCm39)	missense	probably damaging	1.00
R6989:Fkbp5	UTSW	17	28,634,919 (GRCm39)	missense	probably benign	0.01
R7454:Fkbp5	UTSW	17	28,634,999 (GRCm39)	missense	probably damaging	0.97
R7635:Fkbp5	UTSW	17	28,647,335 (GRCm39)	missense	probably benign	0.00
R7708:Fkbp5	UTSW	17	28,657,071 (GRCm39)	missense	probably benign
R7862:Fkbp5	UTSW	17	28,631,013 (GRCm39)	missense	probably damaging	1.00
R7920:Fkbp5	UTSW	17	28,648,213 (GRCm39)	missense	possibly damaging	0.92
R8435:Fkbp5	UTSW	17	28,621,752 (GRCm39)	missense	possibly damaging	0.84
R8471:Fkbp5	UTSW	17	28,634,943 (GRCm39)	missense	probably benign	0.00
R9267:Fkbp5	UTSW	17	28,629,558 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTGTTGTGTCAGCTTCCCAC -3'
(R):5'- ACTGTCCTAGGGAGTACAGG -3'

Sequencing Primer
(F):5'- CGCTCGGAGCAGAAGTGTG -3'
(R):5'- AGGAACTGTGCGCCTGC -3'

Posted On

2019-05-13