Mutagenetix > Incidental Mutation

Incidental Mutation 'R4959:Fkbp5'

382210

Institutional Source

Beutler Lab

Gene Symbol

Fkbp5

Ensembl Gene

ENSMUSG00000024222

Gene Name

FK506 binding protein 5

Synonyms

D17Ertd592e, FKBP51, Dit1

MMRRC Submission

042556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28617727-28705123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28647343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 164 (E164G)

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: E164G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: E164G

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: E164G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: E164G

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

possibly damaging
Transcript: ENSMUST00000153744
AA Change: E164G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116466
Gene: ENSMUSG00000024222
AA Change: E164G

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: E164G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: E164G

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

0.5315

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.6%
20x: 89.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
6820408C15Rik	T	A	2: 152,282,808 (GRCm39)	I221K	possibly damaging	Het
Aadacl3	A	T	4: 144,183,656 (GRCm39)	C136S	probably benign	Het
Abhd16a	T	A	17: 35,321,318 (GRCm39)	S498T	probably benign	Het
Acrv1	G	A	9: 36,605,996 (GRCm39)		probably null	Het
Adamts18	G	A	8: 114,463,357 (GRCm39)	R830*	probably null	Het
Art3	A	G	5: 92,551,478 (GRCm39)	Y279C	probably damaging	Het
Atm	A	T	9: 53,426,601 (GRCm39)	D552E	probably benign	Het
Ccdc154	T	C	17: 25,389,888 (GRCm39)	L508P	probably damaging	Het
Ccser2	A	T	14: 36,662,753 (GRCm39)	S144T	probably benign	Het
Cgn	C	T	3: 94,685,564 (GRCm39)	A320T	probably benign	Het
Cklf	A	G	8: 104,988,184 (GRCm39)	K106E	probably benign	Het
Clec12a	C	A	6: 129,330,628 (GRCm39)	T70K	probably benign	Het
CN725425	G	A	15: 91,129,904 (GRCm39)	A256T	possibly damaging	Het
Crb2	G	T	2: 37,680,482 (GRCm39)	R470L	probably damaging	Het
Csn1s1	T	G	5: 87,821,120 (GRCm39)	S33A	probably benign	Het
D630045J12Rik	C	T	6: 38,125,302 (GRCm39)	V1571M	possibly damaging	Het
Deup1	G	A	9: 15,523,310 (GRCm39)	Q58*	probably null	Het
Dph2	T	A	4: 117,748,527 (GRCm39)	D82V	probably damaging	Het
Dsp	C	T	13: 38,375,686 (GRCm39)	A1157V	probably benign	Het
Evi5l	G	T	8: 4,255,406 (GRCm39)	V477L	probably benign	Het
Fam187b	T	A	7: 30,681,687 (GRCm39)	H131Q	probably damaging	Het
Fam193b	A	G	13: 55,691,097 (GRCm39)	I259T	probably damaging	Het
Fam91a1	A	G	15: 58,303,059 (GRCm39)	T323A	probably benign	Het
Fat4	T	G	3: 39,037,195 (GRCm39)	S3616A	probably benign	Het
Fbxo38	A	T	18: 62,655,578 (GRCm39)	N369K	probably benign	Het
Fitm1	T	A	14: 55,813,831 (GRCm39)		probably null	Het
Fpr-rs3	T	C	17: 20,844,211 (GRCm39)	Y310C	possibly damaging	Het
Fryl	A	T	5: 73,192,401 (GRCm39)	M2678K	probably benign	Het
Fsip2	T	C	2: 82,815,169 (GRCm39)	I3634T	probably benign	Het
Gm3233	T	C	10: 77,595,399 (GRCm39)		probably benign	Het
Gzmd	T	G	14: 56,369,955 (GRCm39)	T9P	unknown	Het
Htr2b	A	T	1: 86,027,813 (GRCm39)	I231N	probably damaging	Het
Il2ra	A	G	2: 11,681,664 (GRCm39)	T90A	possibly damaging	Het
Kbtbd2	A	G	6: 56,758,943 (GRCm39)	F60S	probably benign	Het
Kif21b	G	A	1: 136,076,108 (GRCm39)	C299Y	possibly damaging	Het
Lsm5	A	T	6: 56,680,309 (GRCm39)	D44E	probably damaging	Het
Mapk1	T	A	16: 16,836,170 (GRCm39)	M106K	probably damaging	Het
Mpp2	A	G	11: 101,954,117 (GRCm39)	V193A	probably damaging	Het
Muc4	T	C	16: 32,575,437 (GRCm39)	S1398P	possibly damaging	Het
Ndufs2	A	G	1: 171,065,578 (GRCm39)	Y282H	probably damaging	Het
Nes	T	A	3: 87,882,983 (GRCm39)	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,675,122 (GRCm39)		probably null	Het
Ngef	A	G	1: 87,431,070 (GRCm39)	F159S	possibly damaging	Het
Nlrx1	T	C	9: 44,165,448 (GRCm39)	H816R	possibly damaging	Het
Or10v5	A	G	19: 11,806,300 (GRCm39)	L30P	probably benign	Het
Or1e22	A	T	11: 73,376,893 (GRCm39)	Y252*	probably null	Het
Or2f1	T	C	6: 42,721,621 (GRCm39)	S217P	probably damaging	Het
Or4c106	T	C	2: 88,682,516 (GRCm39)	V74A	possibly damaging	Het
Or4f17-ps1	T	A	2: 111,357,969 (GRCm39)	F103L	probably damaging	Het
Or4p7	T	A	2: 88,221,674 (GRCm39)	L28I	probably benign	Het
Or7g35	A	G	9: 19,496,504 (GRCm39)	T224A	probably benign	Het
Pcgf2	A	T	11: 97,582,515 (GRCm39)	Y7N	possibly damaging	Het
Pdlim5	G	A	3: 142,017,740 (GRCm39)		probably benign	Het
Pdzd2	A	G	15: 12,375,734 (GRCm39)	V1467A	probably damaging	Het
Pigp	C	A	16: 94,160,006 (GRCm39)	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,789,657 (GRCm39)	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,754,750 (GRCm39)	E265K	probably benign	Het
Prl3c1	G	T	13: 27,386,471 (GRCm39)		probably null	Het
Ptpn4	A	T	1: 119,692,826 (GRCm39)	Y110*	probably null	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
Rd3l	C	T	12: 111,946,578 (GRCm39)		probably null	Het
Rpl37	G	A	15: 5,147,128 (GRCm39)	R56Q	possibly damaging	Het
Rttn	A	T	18: 89,060,292 (GRCm39)	H998L	probably damaging	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Simc1	T	G	13: 54,673,131 (GRCm39)	V493G	possibly damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,003,101 (GRCm39)		probably benign	Het
Slc25a46	A	T	18: 31,735,807 (GRCm39)	I144N	possibly damaging	Het
Smtn	A	T	11: 3,477,825 (GRCm39)	M1K	probably null	Het
Snd1	C	A	6: 28,884,250 (GRCm39)	Y766*	probably null	Het
Spata31d1d	C	T	13: 59,875,102 (GRCm39)	G811D	probably damaging	Het
Spta1	A	C	1: 174,074,174 (GRCm39)	D2371A	probably damaging	Het
Stard6	A	C	18: 70,631,631 (GRCm39)	D74A	possibly damaging	Het
Stim2	G	T	5: 54,262,712 (GRCm39)	R318L	probably benign	Het
Sufu	C	T	19: 46,463,991 (GRCm39)	T401I	possibly damaging	Het
Suz12	G	A	11: 79,920,057 (GRCm39)	G539D	probably damaging	Het
Sytl2	C	G	7: 90,025,245 (GRCm39)	S411C	probably damaging	Het
Taf6	G	A	5: 138,181,465 (GRCm39)	Q156*	probably null	Het
Tead4	T	C	6: 128,247,950 (GRCm39)	D29G	probably damaging	Het
Thada	T	C	17: 84,751,611 (GRCm39)	Y455C	probably damaging	Het
Tlr6	G	C	5: 65,111,002 (GRCm39)	T635S	possibly damaging	Het
Tlr9	A	G	9: 106,101,876 (GRCm39)	D389G	probably benign	Het
Tmem54	A	T	4: 129,002,073 (GRCm39)	H40L	probably damaging	Het
Trappc9	G	T	15: 72,808,905 (GRCm39)	N540K	probably damaging	Het
Trbv28	C	T	6: 41,248,788 (GRCm39)	S106F	probably damaging	Het
Trrap	A	T	5: 144,793,770 (GRCm39)	H3384L	probably damaging	Het
Usp16	T	A	16: 87,277,802 (GRCm39)	M684K	probably damaging	Het
Vat1	G	A	11: 101,351,426 (GRCm39)	T305M	probably damaging	Het
Vmn2r85	A	G	10: 130,257,302 (GRCm39)	S544P	probably damaging	Het
Vps8	T	C	16: 21,278,536 (GRCm39)	S267P	probably damaging	Het
Ylpm1	T	A	12: 85,096,719 (GRCm39)	V1242E	probably damaging	Het
Zfp267	C	T	3: 36,218,285 (GRCm39)	R102C	possibly damaging	Het
Zfp322a	T	C	13: 23,541,052 (GRCm39)	Y230C	probably damaging	Het
Zfp352	T	A	4: 90,112,376 (GRCm39)	V172E	probably benign	Het
Zfp936	A	T	7: 42,839,034 (GRCm39)	H167L	probably damaging	Het
Zkscan14	A	G	5: 145,132,302 (GRCm39)	Y410H	probably benign	Het
Zkscan17	A	G	11: 59,394,538 (GRCm39)	M21T	probably damaging	Het
Zswim4	G	T	8: 84,938,852 (GRCm39)	A1010D	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
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'- ACCAATCCTGAATGACATGTTACC -3'
(R):5'- GCAGAGTACATCGCTCTCATG -3'

Sequencing Primer
(F):5'- ATAACTAAACCCAAACTAGACTTGTG -3'
(R):5'- GAGTACATCGCTCTCATGTCCCAC -3'

Posted On

2016-04-27