Mutagenetix > Incidental Mutation

Incidental Mutation 'R7920:Fkbp5'

648315

Institutional Source

Beutler Lab

Gene Symbol

Fkbp5

Ensembl Gene

ENSMUSG00000024222

Gene Name

FK506 binding protein 5

Synonyms

D17Ertd592e, FKBP51, Dit1

MMRRC Submission

045967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28617727-28705123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28648213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 125 (N125K)

Ref Sequence

ENSEMBL: ENSMUSP00000078382 (fasta)

Gene Model

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

AlphaFold

Q64378

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079413
AA Change: N125K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: N125K

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

possibly damaging
Transcript: ENSMUST00000114792
AA Change: N125K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: N125K

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

possibly damaging
Transcript: ENSMUST00000153744
AA Change: N125K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116466
Gene: ENSMUSG00000024222
AA Change: N125K

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

possibly damaging
Transcript: ENSMUST00000177939
AA Change: N125K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: N125K

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,818,130 (GRCm39)	S9P	probably damaging	Het
AI661453	A	T	17: 47,779,331 (GRCm39)	Q1019L	unknown	Het
Aldh1a1	T	A	19: 20,595,301 (GRCm39)	W77R	probably damaging	Het
Cc2d2a	T	C	5: 43,896,651 (GRCm39)	I1516T	probably benign	Het
Ccdc149	T	A	5: 52,562,436 (GRCm39)	I197F	probably damaging	Het
Cfap119	A	G	7: 127,187,125 (GRCm39)	M46T	probably benign	Het
Cfb	A	G	17: 35,079,867 (GRCm39)	V176A	probably benign	Het
Chordc1	A	G	9: 18,213,397 (GRCm39)	K83E	probably benign	Het
Cic	G	A	7: 24,971,384 (GRCm39)	V372M	probably benign	Het
Coq2	T	A	5: 100,811,741 (GRCm39)		probably benign	Het
Cradd	A	G	10: 95,158,573 (GRCm39)	L58P	probably damaging	Het
Crim1	A	T	17: 78,610,493 (GRCm39)	D316V	probably damaging	Het
Cyb5rl	C	A	4: 106,928,205 (GRCm39)	L114I	possibly damaging	Het
Cyp2c69	T	G	19: 39,866,247 (GRCm39)		probably null	Het
Ddhd1	A	G	14: 45,894,927 (GRCm39)	F181S	probably damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dmrt1	T	C	19: 25,483,383 (GRCm39)	S56P	possibly damaging	Het
Dnah12	A	G	14: 26,578,499 (GRCm39)	E3086G	possibly damaging	Het
Dnah5	A	T	15: 28,453,368 (GRCm39)	M4380L	probably benign	Het
Dph7	A	T	2: 24,861,624 (GRCm39)	M346L	probably benign	Het
Eef1ece2	A	G	16: 20,456,442 (GRCm39)	E428G	possibly damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcna	T	C	2: 25,516,298 (GRCm39)	K112E	probably benign	Het
Foxo3	C	T	10: 42,073,765 (GRCm39)	V251I	possibly damaging	Het
Fryl	T	A	5: 73,259,150 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,781,365 (GRCm39)	E253G	possibly damaging	Het
Gprc6a	T	A	10: 51,491,026 (GRCm39)	T908S	probably benign	Het
Grin2c	A	T	11: 115,144,970 (GRCm39)	F560L	probably benign	Het
Hao1	T	A	2: 134,390,172 (GRCm39)	N56Y	probably damaging	Het
Haus3	T	C	5: 34,325,046 (GRCm39)	I204M	probably benign	Het
Htr3b	C	A	9: 48,848,456 (GRCm39)	C263F	probably damaging	Het
Ica1	A	T	6: 8,742,274 (GRCm39)	C120S	probably benign	Het
Inpp4a	T	A	1: 37,406,886 (GRCm39)	S210T	probably benign	Het
Inpp5d	T	G	1: 87,633,671 (GRCm39)	I699S	probably damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Lcn11	G	A	2: 25,669,343 (GRCm39)	V167M	possibly damaging	Het
Lingo3	C	A	10: 80,670,382 (GRCm39)	R516L	probably benign	Het
Lrmda	T	C	14: 22,646,546 (GRCm39)	V151A	probably damaging	Het
Ly6g5b	A	C	17: 35,333,578 (GRCm39)	I133R	probably damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mroh7	T	C	4: 106,564,773 (GRCm39)	T562A	probably benign	Het
Nlrc4	A	G	17: 74,734,114 (GRCm39)	M933T	probably benign	Het
Or13a25	A	T	7: 140,247,814 (GRCm39)	S198C	possibly damaging	Het
Pkhd1	A	T	1: 20,345,759 (GRCm39)	D2756E	probably damaging	Het
Plekhm2	T	C	4: 141,359,432 (GRCm39)	D445G	probably damaging	Het
Ppp1r12c	C	T	7: 4,486,354 (GRCm39)	G605D	probably benign	Het
Pygb	T	A	2: 150,628,922 (GRCm39)	N45K	possibly damaging	Het
Scn4b	A	G	9: 45,058,069 (GRCm39)	T54A	probably damaging	Het
Scrt1	T	A	15: 76,403,417 (GRCm39)	H191L	unknown	Het
Sdc3	A	G	4: 130,546,507 (GRCm39)	M289V	probably benign	Het
Shb	C	T	4: 45,489,054 (GRCm39)		probably null	Het
Slc1a5	A	G	7: 16,527,795 (GRCm39)	T364A	probably damaging	Het
Slc25a27	A	G	17: 43,960,564 (GRCm39)	V218A	probably benign	Het
Slc39a4	C	T	15: 76,498,285 (GRCm39)	G384D	probably damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Styxl2	T	A	1: 165,927,465 (GRCm39)	N716Y	possibly damaging	Het
Tmem67	A	T	4: 12,089,284 (GRCm39)		probably null	Het
Tonsl	C	T	15: 76,518,787 (GRCm39)	R544H	probably damaging	Het
Trex1	A	G	9: 108,887,157 (GRCm39)	V278A	unknown	Het
Ttn	A	T	2: 76,625,501 (GRCm39)	D15107E	probably damaging	Het
Tubgcp5	A	G	7: 55,466,310 (GRCm39)	T621A	probably benign	Het
Zfhx4	T	C	3: 5,465,515 (GRCm39)	V1916A	possibly damaging	Het
Zfp260	A	T	7: 29,805,017 (GRCm39)	K306*	probably null	Het
Zkscan7	A	T	9: 122,724,974 (GRCm39)	T648S	probably benign	Het
Zscan4c	T	A	7: 10,743,699 (GRCm39)	F433I	possibly damaging	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
R7862:Fkbp5	UTSW	17	28,631,013 (GRCm39)	missense	probably damaging	1.00
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'- GGATATGCCCACTTTGTGCC -3'
(R):5'- CAGTTCTTATGATTTGGCAGATCTG -3'

Sequencing Primer
(F):5'- TGCCAGACACATTTCTAAGAAAG -3'
(R):5'- TTGAAGATTTTCTTTGACAGATTTGG -3'

Posted On

2020-09-15