Mutagenetix > Incidental Mutation

Incidental Mutation 'R7862:Fkbp5'

607614

Institutional Source

Beutler Lab

Gene Symbol

Fkbp5

Ensembl Gene

ENSMUSG00000024222

Gene Name

FK506 binding protein 5

Synonyms

D17Ertd592e, FKBP51, Dit1

MMRRC Submission

045915-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7862 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28617727-28705123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28631013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 251 (E251K)

Ref Sequence

ENSEMBL: ENSMUSP00000078382 (fasta)

Gene Model

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

AlphaFold

Q64378

Predicted Effect

probably damaging
Transcript: ENSMUST00000079413
AA Change: E251K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: E251K

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: E251K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: E251K

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: E251K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: E251K

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: 99.9%
10x: 99.6%
20x: 98.8%

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 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	C	3: 145,649,624 (GRCm39)	*181S	probably null	Het
Abcc10	G	T	17: 46,626,458 (GRCm39)	S661*	probably null	Het
Abtb2	C	T	2: 103,532,626 (GRCm39)	R475W	probably damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chaf1b	T	C	16: 93,684,983 (GRCm39)	M144T	possibly damaging	Het
Chd8	T	C	14: 52,451,734 (GRCm39)	D1372G	probably damaging	Het
Chmp6	G	A	11: 119,807,836 (GRCm39)		probably null	Het
Cst12	T	C	2: 148,631,495 (GRCm39)	V72A	probably damaging	Het
D1Pas1	G	A	1: 186,700,349 (GRCm39)	G93R	probably damaging	Het
Dhx34	C	A	7: 15,944,448 (GRCm39)	V589F	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dmrta1	C	A	4: 89,576,561 (GRCm39)	H6N	probably benign	Het
Dop1b	T	C	16: 93,546,851 (GRCm39)	L285P	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Ehbp1l1	C	T	19: 5,770,851 (GRCm39)	R230Q	probably benign	Het
Ep300	T	G	15: 81,534,954 (GRCm39)	V2337G	probably damaging	Het
Fh1	A	T	1: 175,442,400 (GRCm39)	V150E	probably damaging	Het
Fkbp11	G	A	15: 98,624,389 (GRCm39)	R122*	probably null	Het
Fmnl1	A	G	11: 103,071,756 (GRCm39)	K88E	probably damaging	Het
Frrs1	T	C	3: 116,685,529 (GRCm39)	V300A	possibly damaging	Het
Glud1	T	G	14: 34,047,479 (GRCm39)	L198V	possibly damaging	Het
Gsdmc	A	T	15: 63,649,845 (GRCm39)	W349R	possibly damaging	Het
Hacd1	T	C	2: 14,050,013 (GRCm39)	H64R	probably damaging	Het
Haus2	T	A	2: 120,443,570 (GRCm39)	D75E	probably benign	Het
Hmcn1	A	T	1: 150,682,172 (GRCm39)	F459L	probably damaging	Het
Ighe	A	T	12: 113,235,428 (GRCm39)	V272E		Het
Iqgap1	C	T	7: 80,393,636 (GRCm39)	R647H	probably benign	Het
Jmy	T	C	13: 93,635,703 (GRCm39)	I38V	possibly damaging	Het
Kcnh1	G	T	1: 191,873,167 (GRCm39)		probably benign	Het
Kctd20	C	T	17: 29,181,849 (GRCm39)	A167V	probably damaging	Het
Klhl38	A	T	15: 58,178,395 (GRCm39)	V525E	probably damaging	Het
Krit1	A	G	5: 3,862,788 (GRCm39)	D259G	probably damaging	Het
Med1	A	T	11: 98,052,036 (GRCm39)	C443S	probably benign	Het
Mllt6	T	C	11: 97,556,631 (GRCm39)	V107A	probably benign	Het
Myl7	A	G	11: 5,847,157 (GRCm39)	M132T	probably benign	Het
Myo10	T	C	15: 25,666,522 (GRCm39)	V11A	probably damaging	Het
Nipbl	T	C	15: 8,355,236 (GRCm39)	I1642V	probably benign	Het
Or4a47	T	C	2: 89,665,468 (GRCm39)	T274A	probably benign	Het
Or6c214	T	C	10: 129,591,224 (GRCm39)	T32A	probably benign	Het
Or7g25	C	A	9: 19,160,736 (GRCm39)		probably benign	Het
Or8b3b	C	T	9: 38,584,624 (GRCm39)	V39M	probably benign	Het
Pcdhb2	C	T	18: 37,429,113 (GRCm39)	A362V	probably benign	Het
Pnp2	A	T	14: 51,201,016 (GRCm39)	D167V	possibly damaging	Het
Rasa1	G	A	13: 85,403,530 (GRCm39)	T282I	probably damaging	Het
Rp1l1	A	G	14: 64,265,476 (GRCm39)	D354G	probably damaging	Het
Rpap1	C	T	2: 119,605,893 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Shank3	A	G	15: 89,389,648 (GRCm39)	D415G	possibly damaging	Het
Slc12a1	A	G	2: 125,003,014 (GRCm39)	I182V	probably damaging	Het
Slc6a13	A	G	6: 121,312,589 (GRCm39)	Y441C	probably damaging	Het
Sltm	G	T	9: 70,479,446 (GRCm39)	E193*	probably null	Het
Spag9	T	C	11: 94,002,892 (GRCm39)	I1134T	possibly damaging	Het
Spta1	G	A	1: 174,025,351 (GRCm39)		probably null	Het
Stk3	A	G	15: 35,115,732 (GRCm39)	V29A	possibly damaging	Het
Tgfbr1	A	T	4: 47,403,489 (GRCm39)	I365F	probably damaging	Het
Thpo	C	T	16: 20,547,540 (GRCm39)	V24I	probably benign	Het
Tle1	A	C	4: 72,117,552 (GRCm39)	L36R	probably damaging	Het
Togaram2	T	C	17: 71,996,168 (GRCm39)	V57A	probably benign	Het
Ttll9	C	T	2: 152,848,895 (GRCm39)	A459V	probably benign	Het
Ush1c	T	C	7: 45,870,848 (GRCm39)	I330V	probably damaging	Het
Usp34	T	C	11: 23,414,718 (GRCm39)	M2906T		Het
Vmn2r28	A	T	7: 5,493,613 (GRCm39)	M111K	probably benign	Het
Vmn2r97	T	C	17: 19,167,416 (GRCm39)	C557R	probably damaging	Het
Zfp873	T	A	10: 81,896,109 (GRCm39)	I280K	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
R7027:Fkbp5	UTSW	17	28,631,037 (GRCm39)	missense	probably damaging	1.00
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
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'- GAACACGATGCAGCAGGTCTC -3'

Posted On

2019-12-20