Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Fkbp5'

267573

Institutional Source

Beutler Lab

Gene Symbol

Fkbp5

Ensembl Gene

ENSMUSG00000024222

Gene Name

FK506 binding protein 5

Synonyms

D17Ertd592e, FKBP51, Dit1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28617727-28705123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28634970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 180 (T180A)

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: T180A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: T180A

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: T180A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: T180A

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

noncoding transcript
Transcript: ENSMUST00000143685

Predicted Effect

probably benign
Transcript: ENSMUST00000153744
AA Change: T180A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116466
Gene: ENSMUSG00000024222
AA Change: T180A

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: T180A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: T180A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,592,378 (GRCm39)	E888G	probably damaging	Het
Arhgef10	T	C	8: 15,004,918 (GRCm39)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,396,500 (GRCm39)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,653,055 (GRCm39)	V2A	possibly damaging	Het
Cand1	A	T	10: 119,075,102 (GRCm39)	L15Q	probably benign	Het
Cavin3	C	A	7: 105,130,350 (GRCm39)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,821,830 (GRCm39)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,168,647 (GRCm39)	K161E	probably damaging	Het
Chil4	A	T	3: 106,111,056 (GRCm39)	N279K	probably benign	Het
Chst13	T	G	6: 90,295,245 (GRCm39)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,010,664 (GRCm39)	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,593,319 (GRCm39)	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,713,113 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,657,275 (GRCm39)	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,461,163 (GRCm39)	S182P	probably benign	Het
Flg2	T	A	3: 93,127,334 (GRCm39)	I2082N	unknown	Het
Gm4968	A	G	6: 127,210,725 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 116,761,747 (GRCm39)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,218,251 (GRCm39)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,651,430 (GRCm39)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,483,596 (GRCm39)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,348,511 (GRCm39)	S147R	probably benign	Het
Iqca1l	A	G	5: 24,754,624 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,089 (GRCm39)	A282V	probably null	Het
Jmy	T	C	13: 93,590,558 (GRCm39)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,512,984 (GRCm39)	R64C	probably damaging	Het
Kidins220	T	C	12: 25,040,757 (GRCm39)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,656,133 (GRCm39)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,529,543 (GRCm39)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,389,424 (GRCm39)	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,758,927 (GRCm39)	V222M	probably damaging	Het
Mst1	T	C	9: 107,958,702 (GRCm39)		probably benign	Het
Myo7b	C	A	18: 32,143,132 (GRCm39)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,250,355 (GRCm39)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,785,947 (GRCm39)	D164G	probably damaging	Het
Nol11	C	T	11: 107,064,454 (GRCm39)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 26,196,642 (GRCm39)	N1208D	probably benign	Het
Nup155	C	T	15: 8,186,162 (GRCm39)		probably benign	Het
Or5ak20	A	T	2: 85,183,347 (GRCm39)	C308S	probably benign	Het
Or6c38	A	G	10: 128,929,711 (GRCm39)	I44T	possibly damaging	Het
Or8b47	A	G	9: 38,435,081 (GRCm39)	T18A	probably damaging	Het
Or8b54	A	T	9: 38,687,016 (GRCm39)	D155V	possibly damaging	Het
Phf3	A	G	1: 30,844,684 (GRCm39)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,279,250 (GRCm39)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,085,396 (GRCm39)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,314,335 (GRCm39)		probably null	Het
Ptgfrn	T	C	3: 100,950,718 (GRCm39)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,737,720 (GRCm39)		probably benign	Het
Pygb	G	T	2: 150,670,473 (GRCm39)	V763F	probably benign	Het
Ros1	A	C	10: 51,967,091 (GRCm39)	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,898,027 (GRCm39)	F5L	probably benign	Het
Skint5	A	G	4: 113,614,102 (GRCm39)		probably null	Het
Sntg2	A	G	12: 30,362,566 (GRCm39)	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,762,242 (GRCm39)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,584,603 (GRCm39)	M1R	probably null	Het
Sult1c2	T	C	17: 54,279,043 (GRCm39)	E91G	probably damaging	Het
Themis2	C	G	4: 132,512,906 (GRCm39)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,058 (GRCm39)	L232P	probably benign	Het
Trappc1	T	C	11: 69,215,248 (GRCm39)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,951,708 (GRCm39)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,604,339 (GRCm39)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,640,057 (GRCm39)		probably null	Het
Vmn1r184	T	A	7: 25,967,008 (GRCm39)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,283,544 (GRCm39)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,481,792 (GRCm39)	V233F	probably benign	Het
Vps13a	A	C	19: 16,743,857 (GRCm39)		probably benign	Het
Vwa5b2	A	G	16: 20,420,358 (GRCm39)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,994,538 (GRCm39)		probably null	Het
Wdr86	A	G	5: 24,923,305 (GRCm39)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,576,940 (GRCm39)	L47S	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
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
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'- AATGCAATGGCTTCCCTGC -3'
(R):5'- GACTAGGTGGGCAAAGCTTC -3'

Sequencing Primer
(F):5'- CAAGCAGTCCTTGGTCTTCAGG -3'
(R):5'- GCTTCCAGAAGACACTGTGTG -3'

Posted On

2015-02-18