Mutagenetix > Incidental Mutation

Incidental Mutation 'R6989:Fkbp5'

543169

Institutional Source

Beutler Lab

Gene Symbol

Fkbp5

Ensembl Gene

ENSMUSG00000024222

Gene Name

FK506 binding protein 5

Synonyms

D17Ertd592e, FKBP51, Dit1

MMRRC Submission

045095-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6989 (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 28634919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 197 (D197N)

Ref Sequence

ENSEMBL: ENSMUSP00000136245 (fasta)

Gene Model

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

AlphaFold

Q64378

Predicted Effect

probably benign
Transcript: ENSMUST00000079413
AA Change: D197N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: D197N

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: ENSMUST00000114792
AA Change: D197N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: D197N

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 benign
Transcript: ENSMUST00000177939
AA Change: D197N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: D197N

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: 99.3%
20x: 97.4%

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 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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	C	T	11: 3,840,076 (GRCm39)	R107H	probably damaging	Het
4930438A08Rik	T	C	11: 58,178,228 (GRCm39)	V96A	possibly damaging	Het
Abcc2	A	G	19: 43,820,611 (GRCm39)	D1370G	probably damaging	Het
Abcc9	T	A	6: 142,634,707 (GRCm39)	N186Y	probably damaging	Het
Adcy7	T	C	8: 89,035,414 (GRCm39)	V106A	probably benign	Het
Adgra3	A	G	5: 50,164,226 (GRCm39)	F251S	probably damaging	Het
Akr1c6	T	A	13: 4,499,045 (GRCm39)	I33N	probably damaging	Het
Alk	A	C	17: 72,204,947 (GRCm39)	M1075R	probably benign	Het
Amh	A	G	10: 80,641,338 (GRCm39)	Q86R	probably benign	Het
Aox1	T	C	1: 58,124,611 (GRCm39)	Y951H	probably damaging	Het
Arhgap26	G	T	18: 39,232,682 (GRCm39)	R119L	probably damaging	Het
Arl8a	A	G	1: 135,074,735 (GRCm39)	K7R	probably benign	Het
Birc6	T	G	17: 74,937,984 (GRCm39)	S2638A	probably benign	Het
Ccdc162	T	G	10: 41,457,349 (GRCm39)	Q256H	probably damaging	Het
Cenpe	T	A	3: 134,940,888 (GRCm39)	L679Q	probably damaging	Het
Cpa5	T	A	6: 30,625,891 (GRCm39)	H203Q	probably benign	Het
Cpne9	A	T	6: 113,277,544 (GRCm39)	D421V	possibly damaging	Het
Cux1	A	T	5: 136,308,502 (GRCm39)	C1212*	probably null	Het
Dock9	G	A	14: 121,864,791 (GRCm39)	H736Y	probably damaging	Het
Dpp3	A	T	19: 4,971,195 (GRCm39)	V214E	probably damaging	Het
Dtx3	T	C	10: 127,028,746 (GRCm39)	E161G	probably benign	Het
Ect2	A	T	3: 27,156,637 (GRCm39)	Y774*	probably null	Het
Enpep	G	T	3: 129,074,599 (GRCm39)	P717H	probably damaging	Het
Erich3	A	T	3: 154,469,314 (GRCm39)		probably benign	Het
Fbp2	C	T	13: 63,005,991 (GRCm39)	A41T	probably damaging	Het
Fbxl21	T	C	13: 56,674,874 (GRCm39)	V75A	probably damaging	Het
Fsip2	A	G	2: 82,807,298 (GRCm39)	T1206A	probably benign	Het
Ggt7	A	G	2: 155,345,380 (GRCm39)	V156A	probably benign	Het
Gpi1	T	C	7: 33,901,945 (GRCm39)	K156R	probably damaging	Het
Gpx5	T	C	13: 21,471,669 (GRCm39)	D178G	probably damaging	Het
Grm7	G	A	6: 111,184,766 (GRCm39)	E366K	probably damaging	Het
Haao	T	C	17: 84,139,103 (GRCm39)	Q277R	probably damaging	Het
Lama1	T	C	17: 68,060,753 (GRCm39)	S694P		Het
Lrp10	A	G	14: 54,705,950 (GRCm39)	D380G	probably benign	Het
Lrp2	C	A	2: 69,302,799 (GRCm39)	D2977Y	probably damaging	Het
Map2	T	A	1: 66,454,065 (GRCm39)	M985K	probably benign	Het
Met	C	A	6: 17,535,927 (GRCm39)	N784K	possibly damaging	Het
Met	T	A	6: 17,535,928 (GRCm39)	Y65N	probably damaging	Het
Muc6	T	G	7: 141,226,246 (GRCm39)		probably benign	Het
Numbl	T	A	7: 26,980,265 (GRCm39)	W416R	probably damaging	Het
Nup160	G	A	2: 90,537,364 (GRCm39)	S746N	probably benign	Het
Pcca	G	A	14: 122,887,700 (GRCm39)	G102D	probably damaging	Het
Pira13	T	A	7: 3,825,163 (GRCm39)	Y493F	possibly damaging	Het
Psmc2	T	A	5: 22,006,217 (GRCm39)	F243L	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rpn1	G	T	6: 88,076,285 (GRCm39)	V357L	probably benign	Het
Rtn3	A	G	19: 7,433,856 (GRCm39)	F712S	possibly damaging	Het
Scgb1b10	T	A	7: 31,800,574 (GRCm39)	D54E	probably benign	Het
Scn5a	A	G	9: 119,315,395 (GRCm39)	I1771T	probably damaging	Het
Sec14l1	A	G	11: 117,047,220 (GRCm39)	I633V	probably damaging	Het
Slc17a6	T	C	7: 51,311,224 (GRCm39)	Y313H	possibly damaging	Het
Slc18a1	G	A	8: 69,491,514 (GRCm39)	T500I	probably benign	Het
Slx4	G	A	16: 3,813,702 (GRCm39)	A93V	probably damaging	Het
Stat4	T	C	1: 52,107,974 (GRCm39)	S148P	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trav3-3	C	A	14: 53,903,802 (GRCm39)	P40Q	possibly damaging	Het
Trpv6	A	T	6: 41,602,390 (GRCm39)	L332Q	probably damaging	Het
Ube2t	T	G	1: 134,897,033 (GRCm39)	V55G	probably damaging	Het
Ufm1	T	C	3: 53,765,402 (GRCm39)	K69E	probably damaging	Het
Utp20	T	C	10: 88,614,102 (GRCm39)	D1284G	probably benign	Het
Vil1	C	T	1: 74,463,113 (GRCm39)	T432I	probably damaging	Het
Vps13b	T	A	15: 35,448,727 (GRCm39)	I567K	probably benign	Het
Zfp236	A	T	18: 82,646,488 (GRCm39)	V1023D	probably damaging	Het
Zfp429	A	G	13: 67,538,080 (GRCm39)	Y455H	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
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
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'- CAATGCAATGGCTTCCCTGC -3'
(R):5'- AGCTTCCAGAAGACACTGTGTG -3'

Sequencing Primer
(F):5'- TTCCCTGCGCCAACAAGG -3'
(R):5'- ACACTGTGTGTCTTATGAACTGCAG -3'

Posted On

2018-11-28